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
WFDC8	90199	broad.mit.edu	37	20	44207873	44207873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:44207873C>T	uc002xow.3	-	0	93	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	WFDC8_uc002xox.3_Missense_Mutation_p.R5Q	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	5						extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TCCTTCAGTTCGGACAGTCCA	0.562000														63			40		0	0	0.014410	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418538	105418539	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:105418538_105418539CC>TT	uc010axc.1	-	6	3369_3370	c.3249_3250GG>AA	c.(3247-3252)aaggtg>aaAAtg	p.V1084M	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.V984M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1084						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCATCTCCACCTTGGGCAAGT	0.619000														125			53		0	0	0.004672	0	0
OR2M2	391194	broad.mit.edu	37	1	248343737	248343737	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:248343737C>T	uc010pzf.2	+	0	450	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W149L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTCCTGGATCCTGGGCTCTA	0.438000														78			92		0	0	0.014410	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367788	99367788	+	Missense_Mutation	SNP	C	T	T	rs72552799		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:99367788C>T	uc003urv.2	-	4	496	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	CYP3A4_uc003urw.2_Missense_Mutation_p.R130Q|CYP3A4_uc011kiz.2_Intron	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	130			R -> Q (in allele CYP3A4*8).		alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CAGCAATGATCGTAATCTCTT	0.388000														52			7		0	0	0.004482	0	0
NDST1	3340	broad.mit.edu	37	5	149931403	149931403	+	Missense_Mutation	SNP	G	A	A	rs150060318		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:149931403G>A	uc003lsk.4	+	13	3017	c.2515G>A	c.(2515-2517)Gag>Aag	p.E839K	NDST1_uc011dcj.2_Missense_Mutation_p.E782K	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	839	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAATATCCCGAGATGGACTT	0.498000														35			6		0	0	0.001168	0	0
USP26	83844	broad.mit.edu	37	X	132162238	132162238	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:132162238A>C	uc011mvf.2	-	0	63	c.11T>G	c.(10-12)cTa>cGa	p.L4R	USP26_uc010nrm.1_Missense_Mutation_p.L4R	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	4					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ACGTAGGAATAGGGCAGCCAT	0.363000														33			11		0	0	0.008291	0	0
MGAM	8972	broad.mit.edu	37	7	141736006	141736006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:141736006C>T	uc003vwy.3	+	16	2051	c.1997C>T	c.(1996-1998)cCt>cTt	p.P666L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	666	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGGACACCCCTGAGGAGCTC	0.498000														17			3		0	0	0.009096	0	0
DCC	1630	broad.mit.edu	37	18	50705432	50705432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr18:50705432G>A	uc002lfe.2	+	8	2135	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	DCC_uc010xdr.1_Missense_Mutation_p.E355K|DCC_uc010dpf.2_Missense_Mutation_p.E162K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	507	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGCTTACAATGAATGGGGACC	0.483000														25			10		0	0	0.006214	0	0
COL4A1	1282	broad.mit.edu	37	13	110839489	110839489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:110839489G>A	uc001vqw.4	-	24	1846	c.1724C>T	c.(1723-1725)tCg>tTg	p.S575L		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	575	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.G574R(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACATACCGGCGAGCCCTTGGG	0.488000														82			29		0	0	0.013726	0	0
MCTP1	79772	broad.mit.edu	37	5	94275821	94275821	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:94275821G>A	uc003kkx.2	-	4	1140	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	MCTP1_uc003kkv.2_Silent_p.I159I|MCTP1_uc003kkw.2_Silent_p.I159I|MCTP1_uc003kkz.2_Silent_p.I41I	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	380					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TAGGGGTAAGGATGACTGAGA	0.448000														109			12		0	0	0.003163	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573103	140573103	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:140573103C>T	uc003lix.3	+	0	1152	c.978C>T	c.(976-978)ggC>ggT	p.G326G		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	326	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGTGGAGGCCTTTCTGCAA	0.378000														52			15		0	0	0.003163	0	0
PCDP1	200373	broad.mit.edu	37	2	120373205	120373205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:120373205C>T	uc002tmb.3	+	14	1584	c.472C>T	c.(472-474)Cct>Tct	p.P158S	PCDP1_uc010yyq.2_Missense_Mutation_p.P288S	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	444						cilium	calmodulin binding					Colorectal(110;0.196)					GGAATTTCATCCTACTTTTGA	0.353000														9			4		0	0	0.009096	0	0
MUC16	94025	broad.mit.edu	37	19	9060891	9060891	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9060891G>A	uc002mkp.3	-	2	26759	c.26555C>T	c.(26554-26556)cCt>cTt	p.P8852L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8854	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGATGGAGGGCTAGTTTT	0.522000														54			26		0	0	0.006320	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175685	143175685	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:143175685C>T	uc003wdc.1	+	0	720	c.720C>T	c.(718-720)ctC>ctT	p.L240L	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	240					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCTCCTTCCTCATTCTTTATG	0.512000														54			18		0	0	0.006122	0	0
ST18	9705	broad.mit.edu	37	8	53079421	53079421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:53079421G>A	uc003xqz.2	-	5	1351	c.1195C>T	c.(1195-1197)Ccc>Tcc	p.P399S	ST18_uc011ldq.1_Missense_Mutation_p.P46S|ST18_uc011ldr.1_Missense_Mutation_p.P364S|ST18_uc011lds.1_Missense_Mutation_p.P304S|ST18_uc003xra.2_Missense_Mutation_p.P399S|ST18_uc003xrb.2_Missense_Mutation_p.P399S	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	399						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTTTCCAGGGGAACCCGCACT	0.547000														75			19		0	0	0.014323	0	0
TCHH	7062	broad.mit.edu	37	1	152081564	152081564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:152081564G>A	uc009wne.1	-	2	4401	c.4129C>T	c.(4129-4131)Ctc>Ttc	p.L1377F	TCHH_uc001ezp.2_Missense_Mutation_p.L1377F	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1377	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCTCGAGGAATTTTCTC	0.597000														55			60		0	0	0.014410	0	0
DGKG	1608	broad.mit.edu	37	3	186015888	186015888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:186015888G>A	uc003fqa.3	-	3	812	c.275C>T	c.(274-276)aCg>aTg	p.T92M	DGKG_uc003fqb.3_Missense_Mutation_p.T92M|DGKG_uc003fqc.3_Missense_Mutation_p.T92M|DGKG_uc011brx.2_Missense_Mutation_p.T92M	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	92					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.T92M(2)|p.P91P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GGCTCCCTCCGTCGGGTGGTC	0.617000														46			16		0	0	0.008871	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6078276	6078276	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:6078276G>A	uc003spp.3	-	9	1292	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	EIF2AK1_uc003spq.3_Silent_p.I381I|EIF2AK1_uc011jwm.1_Silent_p.I258I	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA.	382	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GCTGCATCTGGATGTGCAGCA	0.512000														57			19		0	0	0.007413	0	0
DLG2	1740	broad.mit.edu	37	11	83810091	83810091	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:83810091C>T	uc001paj.2	-	5	613	c.310_splice	c.e5-1	p.G104_splice	DLG2_uc001pai.2_Splice_Site_p.G53_splice|DLG2_uc010rsy.1_Splice_Site_p.G71_splice|DLG2_uc021qof.1_Splice_Site_p.G143_splice|DLG2_uc010rsz.1_Splice_Site_p.G104_splice|DLG2_uc010rta.1_Splice_Site_p.G104_splice|DLG2_uc001pak.2_Splice_Site_p.G209_splice|DLG2_uc010rtb.1_Splice_Site_p.G71_splice|DLG2_uc001pal.1_Splice_Site_p.G104_splice|DLG2_uc001pam.2_Splice_Site_p.G143_splice	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	104	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CAGAATTCCCCTATAGAAACA	0.413000														12			10		0	0	0.010729	0	0
MUC16	94025	broad.mit.edu	37	19	9048855	9048855	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9048855C>G	uc002mkp.3	-	4	32980	c.32776G>C	c.(32776-32778)Gtt>Ctt	p.V10926L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10928	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGTGAAACAGTTGGAGTT	0.478000														62			7		0	0	0.003080	0	0
PCDH15	65217	broad.mit.edu	37	10	55566538	55566539	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:55566538_55566539GG>AA	uc010qhq.2	-	34	5238_5239	c.4843_4844CC>TT	c.(4843-4845)cct>TTt	p.P1615F	PCDH15_uc010qhr.2_Missense_Mutation_p.P1610F	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACAGGGCAAGGGGCAAATGTA	0.455000										HNSCC(58;0.16)				83			62		0	0	0.004672	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516577	140516577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:140516577G>A	uc003liq.3	+	0	1778	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	521	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.Y520Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGACTACGAGGCCCTGCA	0.701000														51			9		0	0	0.006214	0	0
C12orf51	283450	broad.mit.edu	37	12	112622448	112622448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:112622448G>A	uc021reb.1	-	60	10316	c.9920C>T	c.(9919-9921)aCc>aTc	p.T3307I		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TGGCTTCTTGGTGTCTTCTTC	0.622000														48			24		0	0	0.002780	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37488708	37488708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:37488708G>A	uc021ppc.1	+	29	2701	c.2602G>A	c.(2602-2604)Gat>Aat	p.D868N	ANKRD30A_uc001iza.1_Missense_Mutation_p.D868N	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	924						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATTCTTGGGATTCTGAGGT	0.299000														7			4		0	0	0.009096	0	0
MUC16	94025	broad.mit.edu	37	19	9085534	9085534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9085534G>A	uc002mkp.3	-	0	6485	c.6281C>T	c.(6280-6282)tCa>tTa	p.S2094L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2094	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATGCAGCTGAAAAGAGTGG	0.473000														109			21		0	0	0.012319	0	0
RP1	6101	broad.mit.edu	37	8	55533884	55533884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:55533884G>A	uc003xsd.1	+	1	506	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	RP1_uc011ldy.1_Missense_Mutation_p.A120T	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	120					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTGGACAAAGCCCGTCGGCG	0.716000														48			19		0	0	0.012319	0	0
NAE1	8883	broad.mit.edu	37	16	66839687	66839687	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:66839687G>A	uc002eqf.3	-	18	1565	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	NAE1_uc002eqe.3_Silent_p.F490F|NAE1_uc002eqg.3_Silent_p.F407F|NAE1_uc010cdv.3_Silent_p.F499F	NM_003905	NP_001018170	Q13564	ULA1_HUMAN	Homo sapiens NEDD8 activating enzyme E1 subunit 1 (NAE1), transcript variant 1, mRNA.	496					DNA replication|apoptosis|cell cycle|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	CACCCCCCAAGAATGCAGCAA	0.398000														22			11		0	0	0.013537	0	0
TPTE	7179	broad.mit.edu	37	21	10910313	10910313	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr21:10910313G>A	uc002yip.1	-	21	1811	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.F463F|TPTE_uc002yir.1_Silent_p.F443F|TPTE_uc010gkv.1_Silent_p.F343F	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	481	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCACCGAATAGAAAAACTGCA	0.368000														103			11		0	0	0.003163	0	0
ZNF98	148198	broad.mit.edu	37	19	22605023	22605023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:22605023G>A	uc002nqt.2	-	0	126	c.4C>T	c.(4-6)Cca>Tca	p.P2S		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M1I(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGGGGTCCTGGCATCTTAGCT	0.597000														60			11		0	0	0.003163	0	0
VSTM1	284415	broad.mit.edu	37	19	54545422	54545422	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:54545422C>T	uc002qcw.4	-	6	691	c.515_splice	c.e6+1	p.R172_splice	VSTM1_uc021vbe.1_Splice_Site|VSTM1_uc021vbf.1_Splice_Site_p.R84_splice|VSTM1_uc002qcx.4_Splice_Site_p.R141_splice|VSTM1_uc010erb.3_Intron|VSTM1_uc021vbg.1_Splice_Site_p.R52_splice	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	172						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CAAGCATCTACCTCTTGGTGG	0.512000														68			22		0	0	0.004656	0	0
SLC36A2	153201	broad.mit.edu	37	5	150701699	150701699	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:150701699T>C	uc003lty.3	-	8	1218	c.1088A>G	c.(1087-1089)gAa>gGa	p.E363G	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.E165G|SLC36A2_uc010jhv.2_Missense_Mutation_p.E363G	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	363					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGATGATTTCTGCAGGGAC	0.552000														19			12		0	0	0.010729	0	0
GNL3	26354	broad.mit.edu	37	3	52721361	52721361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:52721361G>A	uc003dfd.3	+	2	345	c.172G>A	c.(172-174)Gag>Aag	p.E58K	PBRM1_uc003dey.2_5'Flank|GNL3_uc011beh.1_Non-coding_Transcript|GNL3_uc003dfe.3_Missense_Mutation_p.E46K|GNL3_uc003dff.3_Missense_Mutation_p.E46K|SNORD19_uc003dfg.1_5'Flank	NM_014366	NP_996562	Q9BVP2	GNL3_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar) (GNL3), transcript variant 1, mRNA.	58					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TCCCTTTAAGGAGGCTCTTCT	0.428000														65			18		0	0	0.008871	0	0
UBE4A	9354	broad.mit.edu	37	11	118239488	118239488	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:118239488C>T	uc001psw.3	+	2	399	c.264C>T	c.(262-264)atC>atT	p.I88I	UBE4A_uc001psv.3_Silent_p.I88I	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	88					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ATCACATGATCCAAAGGATCT	0.433000														90			16		0	0	0.004990	0	0
DAZL	1618	broad.mit.edu	37	3	16635245	16635245	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:16635245C>T	uc003cba.3	-	8	1000	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	DAZL_uc003cbb.3_Missense_Mutation_p.E218K	NM_001190811	NP_001177740	Q92904	DAZL_HUMAN	Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 1, mRNA.	218					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						GGATCAACTTCATTACAGTGG	0.343000														21			7		0	0	0.004482	0	0
CATSPER2P1	440278	broad.mit.edu	37	15	44029095	44029095	+	RNA	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr15:44029095G>A	uc001zss.3	-	3		c.686C>T								Homo sapiens cation channel, sperm associated 2 pseudogene 1 (CATSPER2P1), non-coding RNA.																		AGAAAAGTTGGATAGCCACTT	0.433000														40			6		0	0	0.010729	0	0
ZNF274	10782	broad.mit.edu	37	19	58718259	58718259	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:58718259C>T	uc002qrq.1	+	4	888	c.429C>T	c.(427-429)ccC>ccT	p.P143P	ZNF274_uc010yhu.1_Non-coding_Transcript|ZNF274_uc010yhv.1_Non-coding_Transcript|ZNF274_uc002qrr.1_Silent_p.P111P|ZNF274_uc002qrs.1_Silent_p.P38P|ZNF274_uc010eum.1_5'UTR	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	143					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CAGATGCCCCCAGTGAGCAGG	0.607000														10			4		0	0	0.009096	0	0
SLC39A1	27173	broad.mit.edu	37	1	153932900	153932900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:153932900G>A	uc001fdl.3	-	4	1115	c.649C>T	c.(649-651)Cac>Tac	p.H217Y	CRTC2_uc021pab.1_5'Flank|SLC39A1_uc001fdi.3_Missense_Mutation_p.H217Y|SLC39A1_uc001fdj.3_Missense_Mutation_p.H217Y|SLC39A1_uc001fdk.3_Missense_Mutation_p.H217Y|SLC39A1_uc010pee.2_Missense_Mutation_p.H115Y	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA.	217						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		ATGCCCTTGTGGAGCAGCAAA	0.652000														30			8		0	0	0.003080	0	0
SNAP91	9892	broad.mit.edu	37	6	84366578	84366578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:84366578G>A	uc021zcf.1	-	5	583	c.553C>T	c.(553-555)Cca>Tca	p.P185S	SNAP91_uc003pka.3_Missense_Mutation_p.P185S|SNAP91_uc011dze.2_Missense_Mutation_p.P185S|SNAP91_uc003pkc.3_Missense_Mutation_p.P185S|SNAP91_uc003pkd.3_Missense_Mutation_p.P185S|SNAP91_uc003pkb.3_Missense_Mutation_p.P150S|SNAP91_uc011dzf.1_Missense_Mutation_p.P66S	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	185					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGTTCATTTGGATGCACCTAG	0.284000														6			11		0	0	0.010729	0	0
FGB	2244	broad.mit.edu	37	4	155487751	155487751	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:155487751G>A	uc003ioa.4	+	2	456	c.417G>A	c.(415-417)caG>caA	p.Q139Q	FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc010ipv.3_Silent_p.Q80Q	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	139				SQ -> QS (in Ref. 11; AA sequence and 12; AA sequence).	platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTGTTTCCCAGACCTCCTCTT	0.423000														57			15		0	0	0.003163	0	0
IQCF3	401067	broad.mit.edu	37	3	51864710	51864710	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:51864710C>T	uc021wyy.1	+	6	1146	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Nonsense_Mutation_p.Q120*	NM_001085479	NP_001193952	P0C7M6	IQCF3_HUMAN	Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA.	120										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGCTTGTTCCAGGTCCCAGA	0.532000														30			15		0	0	0.002450	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596750	142596750	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:142596750C>T	uc004fbw.3	-	1	408	c.320G>A	c.(319-321)gGa>gAa	p.G107E		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	107										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTGAAGGTCCTTCACATGG	0.473000														52			30		0	0	0.008361	0	0
COL20A1	57642	broad.mit.edu	37	20	61947958	61947958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:61947958C>T	uc011aau.2	+	20	2678	c.2578C>T	c.(2578-2580)Cgg>Tgg	p.R860W	COL20A1_uc011aav.2_Missense_Mutation_p.R681W	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	860	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGCGTCCATCCGGGGCGTGGC	0.637000														0			3		0	0	0.009096	0	0
KCNH5	27133	broad.mit.edu	37	14	63417236	63417236	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:63417236G>A	uc001xfx.3	-	6	1035	c.984C>T	c.(982-984)ctC>ctT	p.L328L	KCNH5_uc001xfy.3_Silent_p.L328L|KCNH5_uc001xfz.1_Silent_p.L270L|KCNH5_uc001xga.3_Silent_p.L270L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	328					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.R327L(1)|p.R327C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCAGTCGTAAGAGACGCACCA	0.453000														25			16		0	0	0.006122	0	0
GOLGA6L10	647042	broad.mit.edu	37	15	82635163	82635163	+	Silent	SNP	C	G	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr15:82635163C>G	uc021ssn.1	-	8	1507	c.1407G>C	c.(1405-1407)gcG>gcC	p.A469A		NM_001164465	NP_001157937	A6NI86	GG6LA_HUMAN	Homo sapiens golgin A6 family-like 10 (GOLGA6L10), mRNA.	469								p.A469A(15)		endometrium(1)|kidney(4)	5						CCCTGTTCTCCGCAGCCCGAA	0.478000														2			5		0	0	0.000602	0	0
TRMT11	60487	broad.mit.edu	37	6	126332563	126332563	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:126332563C>T	uc003qam.3	+	9	1046	c.925_splice	c.e9+1	p.P309_splice	TRMT11_uc003qan.3_Splice_Site|TRMT11_uc010kev.3_Splice_Site_p.P309_splice	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN	Homo sapiens tRNA methyltransferase 11 homolog (S. cerevisiae) (TRMT11), mRNA.	309					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		CATTACTGATCGTAAGTTTAT	0.328000														11			7		0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9000207	9000207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9000207G>A	uc002mkp.3	-	54	40754	c.40550C>T	c.(40549-40551)cCt>cTt	p.P13517L	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.P334L|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13519	SEA 10.				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						CTTGAACACAGGCCTGAGCTG	0.577000														24			10		0	0	0.013537	0	0
TRIM36	55521	broad.mit.edu	37	5	114462242	114462242	+	Silent	SNP	T	C	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:114462242T>C	uc003kqs.3	-	9	2654	c.2145A>G	c.(2143-2145)gaA>gaG	p.E715E	TRIM36_uc011cwc.2_Silent_p.E703E|TRIM36_uc003kqt.3_Silent_p.E560E	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	715	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CTGTGATGGGTTCTTCAAGCT	0.408000														25			5		0	0	0.001984	0	0
CCDC97	90324	broad.mit.edu	37	19	41825596	41825596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:41825596C>T	uc002oqg.3	+	2	742	c.620C>T	c.(619-621)cCc>cTc	p.P207L		NM_052848	NP_443080	Q96F63	CCD97_HUMAN	Homo sapiens coiled-coil domain containing 97 (CCDC97), mRNA.	207										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						ACCCACCAGCCCCCCAAGCCC	0.652000														38			7		0	0	0.003080	0	0
IGSF10	285313	broad.mit.edu	37	3	151164727	151164727	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:151164727C>T	uc011bod.2	-	3	3042	c.3042G>A	c.(3040-3042)agG>agA	p.R1014R		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1014					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)			CGCCAATTTTCCTCTGCCTCC	0.493000														36			19		0	0	0.007413	0	0
WDR88	126248	broad.mit.edu	37	19	33623137	33623137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:33623137C>T	uc002nui.3	+	0	140	c.62C>T	c.(61-63)cCc>cTc	p.P21L		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	21										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TTGCCGCCACCCTCCGCCCCC	0.701000														30			6		0	0	0.001984	0	0
CADM4	199731	broad.mit.edu	37	19	44130962	44130962	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:44130962C>T	uc002oxc.1	-	3	522	c.473G>A	c.(472-474)tGg>tAg	p.W158*		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	Homo sapiens cell adhesion molecule 4 (CADM4), mRNA.	158	Ig-like C2-type 1.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GTCCCGGTACCAGCGCAGGGT	0.647000														59			26		0	0	0.005443	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142499826	142499826	+	RNA	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:142499826C>T	uc003wbe.4	+	3		c.496C>T			TCRBV3S1_uc022anx.1_Non-coding_Transcript|TCRBV3S1_uc003wbi.4_Non-coding_Transcript|TCRBV3S1_uc022any.1_Non-coding_Transcript|TCRBV3S1_uc003wbm.4_Non-coding_Transcript|TCRBV3S1_uc003wbn.4_Non-coding_Transcript|TCRBV3S1_uc010los.3_Non-coding_Transcript					Human TCR Cbeta1 chain cDNA.																		CCACCATCCTCTATGAGATCT	0.567000														39			19		0	0	0.010504	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140799340	140799340	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:140799340C>T	uc003lkn.2	+	0	2081	c.1914C>T	c.(1912-1914)gtC>gtT	p.V638V	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_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Silent_p.V638V|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	640	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACTCGGTCCGCCAGCGCC	0.632000														24			14		0	0	0.004990	0	0
ULK3	25989	broad.mit.edu	37	15	75131034	75131034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr15:75131034G>A	uc010ulq.1	-	9	1088	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	ULK3_uc010ulp.1_Missense_Mutation_p.S261F|ULK3_uc010ulr.1_Missense_Mutation_p.S234F|ULK3_uc010bkf.1_Missense_Mutation_p.S351F|ULK3_uc002ayv.2_Missense_Mutation_p.S351F|ULK3_uc010uls.1_Missense_Mutation_p.S234F	NM_001099436	NP_001092906	Q6PHR2	ULK3_HUMAN	Homo sapiens unc-51-like kinase 3 (C. elegans) (ULK3), mRNA.	351						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						GGCCTGATTGGAAGAGGAGAC	0.647000														8			7		0	0	0.006214	0	0
OR4D10	390197	broad.mit.edu	37	11	59245552	59245552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:59245552C>T	uc001nnz.1	+	0	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCTGGTGTCCTACATAGTC	0.483000														28			13		0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179542556	179542556	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:179542556C>T	uc021vsy.1	-	142	30576	c.30351G>A	c.(30349-30351)gaG>gaA	p.E10117E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.E6778E|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11044	Glu-rich.						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)			GTAGAACTTCCTCTTCAGGAA	0.428000														66			20		0	0	0.007413	0	0
FCRL6	343413	broad.mit.edu	37	1	159779289	159779289	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:159779289C>T	uc001fud.4	+	4	744	c.702C>T	c.(700-702)tcC>tcT	p.S234S	FCRL6_uc001fuc.2_Silent_p.S241S|FCRL6_uc009wsz.1_Silent_p.S139S|FCRL6_uc009wta.3_Silent_p.S234S	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	234	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGAGGGGCTCCCCTCCGATCC	0.597000														31			11		0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179640923	179640923	+	Missense_Mutation	SNP	G	A	A	rs146496197	byFrequency	TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:179640923G>A	uc021vsy.1	-	27	5893	c.5668C>T	c.(5668-5670)Cgc>Tgc	p.R1890C	TTN_uc021vsz.1_Missense_Mutation_p.R1844C|TTN_uc021vta.1_Missense_Mutation_p.R1844C|TTN_uc021vtb.1_Missense_Mutation_p.R1844C|TTN_uc002unb.2_Missense_Mutation_p.R1890C|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1890	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R1844C(3)|p.R1890C(2)		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)			CCATCATAGCGAACTCTGAAC	0.498000														104			21		0	0	0.012319	0	0
LARP1	23367	broad.mit.edu	37	5	154173508	154173508	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:154173508C>T	uc003lvo.3	+	5	810	c.786C>T	c.(784-786)ggC>ggT	p.G262G	LARP1_uc021ygh.1_Silent_p.G134G|LARP1_uc021ygi.1_Silent_p.G339G|LARP1_uc010jie.1_Silent_p.G134G	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	339							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTTCCGTGGCCGTGGACGGG	0.682000														21			24		0	0	0.003330	0	0
DMBT1	1755	broad.mit.edu	37	10	124352087	124352087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:124352087G>A	uc001lgk.1	+	19	2582	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	DMBT1_uc001lgl.1_Missense_Mutation_p.E816K|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.E826K|DMBT1_uc021qag.1_Missense_Mutation_p.E816K|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.E826K|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.E439K	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	826	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCCATCATGAAGATGCTGG	0.537000														33			17		0	0	0.006122	0	0
KCNMB2	10242	broad.mit.edu	37	3	178546031	178546031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:178546031C>T	uc003fjd.3	+	3	636	c.293C>T	c.(292-294)tCc>tTc	p.S98F	AF279780_uc003fjb.1_Intron|AF279780_uc003fjc.1_Intron|KCNMB2_uc003fje.3_Missense_Mutation_p.S98F|KCNMB2_uc003fjf.3_Missense_Mutation_p.S98F|KCNMB2_uc011bqa.2_Intron|KCNMB2_uc011bqb.2_Intron	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 2 (KCNMB2), transcript variant 1, mRNA.	98					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			TTTAATTGCTCCTTCAGCTGT	0.522000														37			5		0	0	0.001168	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634438	156634438	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:156634438G>A	uc003iov.3	+	7	1811	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	GUCY1A3_uc010iqc.2_Silent_p.L425L|GUCY1A3_uc010iqd.3_Silent_p.L424L|GUCY1A3_uc003iow.3_Silent_p.L425L|GUCY1A3_uc003iox.3_Silent_p.L425L|GUCY1A3_uc010iqe.3_Silent_p.L190L|GUCY1A3_uc003ioy.3_Silent_p.L425L|GUCY1A3_uc003ioz.3_Silent_p.L190L|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Silent_p.L425L	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	425					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AAGATGGCCTGAAGAAGAGGC	0.512000														35			11		0	0	0.001855	0	0
PID1	55022	broad.mit.edu	37	2	229890460	229890460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:229890460G>A	uc002vpr.4	-	2	679	c.641C>T	c.(640-642)gCc>gTc	p.A214V	PID1_uc002vps.4_Missense_Mutation_p.A212V|PID1_uc002vpt.4_Missense_Mutation_p.A181V|PID1_uc002vpu.4_Missense_Mutation_p.A132V	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	214	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CTCCATCATGGCGTGGGCCAG	0.572000														37			11		0	0	0.008291	0	0
UBR4	23352	broad.mit.edu	37	1	19437238	19437238	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:19437238G>A	uc001bbi.3	-	78	11894	c.11890C>T	c.(11890-11892)Ctg>Ttg	p.L3964L		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3964					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CGGCTCACCAGATCGGGGTTG	0.587000														77			13		0	0	0.004007	0	0
SV2C	22987	broad.mit.edu	37	5	75587119	75587119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:75587119G>A	uc003kei.1	+	6	1345	c.1211G>A	c.(1210-1212)aGg>aAg	p.R404K		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	404					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		ACATGGTATAGGAGGTGTTTT	0.403000														17			4		0	0	0.000602	0	0
CD69	969	broad.mit.edu	37	12	9907752	9907752	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:9907752A>G	uc001qwk.3	-	2	374	c.293T>C	c.(292-294)tTt>tCt	p.F98S	CD69_uc010sgu.2_Missense_Mutation_p.F98S|CD69_uc010sgv.1_Missense_Mutation_p.F98S	NM_001781	NP_001772	Q07108	CD69_HUMAN	Homo sapiens CD69 molecule (CD69), transcript variant 1, mRNA.	98	C-type lectin.					integral to plasma membrane	sugar binding|transmembrane receptor activity			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						AGTAGAAATAAAGTAGCATTT	0.438000														51			38		0	0	0.004878	0	0
CYP2J2	1573	broad.mit.edu	37	1	60366725	60366725	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:60366725C>T	uc001czq.3	-	7	1247	c.1242G>A	c.(1240-1242)gaG>gaA	p.E414E		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	414					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					GGGTGGCCCACTCTGTGGGGT	0.493000														43			20		0	0	0.012319	0	0
DNAH10	196385	broad.mit.edu	37	12	124401149	124401149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:124401149G>A	uc001uft.4	+	61	10539	c.10514G>A	c.(10513-10515)gGa>gAa	p.G3505E		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3505	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTCTCCCAAGGACGGCAGTTT	0.438000														18			16		0	0	0.004007	0	0
MYH4	4622	broad.mit.edu	37	17	10355546	10355546	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:10355546G>A	uc002gmn.3	-	26	3561	c.3450C>T	c.(3448-3450)atC>atT	p.I1150I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1150					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCTCTCACTGATCTCCTCCA	0.612000														73			65		0	0	0.014410	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967308	142967308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:142967308C>T	uc004fca.3	+	0	136	c.106C>T	c.(106-108)Cat>Tat	p.H36Y		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	36							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCGTTATTTTCATGTGGTCAT	0.498000														45			28		0	0	0.006320	0	0
RHOU	58480	broad.mit.edu	37	1	228879481	228879481	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:228879481C>T	uc001htf.3	+	2	1437	c.771C>T	c.(769-771)ttC>ttT	p.F257F	RHOU_uc021pkj.1_Non-coding_Transcript	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA.	257					regulation of small GTPase mediated signal transduction	Golgi membrane|cell projection|cytosol|focal adhesion|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				ACTGCTGTTTCGTATGATGCT	0.408000														29			9		0	0	0.006214	0	0
ZBTB17	7709	broad.mit.edu	37	1	16268534	16268535	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:16268534_16268535CC>TT	uc001axl.4	-	15	2580_2581	c.2341_2342GG>AA	c.(2341-2343)ggg>AAg	p.G781K	ZBTB17_uc010obs.2_Missense_Mutation_p.G705K|ZBTB17_uc010obq.2_Missense_Mutation_p.G699K|ZBTB17_uc010obr.2_Missense_Mutation_p.G788K	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	Homo sapiens zinc finger and BTB domain containing 17 (ZBTB17), transcript variant 2, mRNA.	781	Interaction with HCFC1.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCTCAGCCCCGTCGCGAGGG	0.658000														50			12		0	0	0.004672	0	0
SCN11A	11280	broad.mit.edu	37	3	38938387	38938387	+	Silent	SNP	T	G	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:38938387T>G	uc021wvy.1	-	13	2551	c.2352A>C	c.(2350-2352)tcA>tcC	p.S784S	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	784					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	CACACAATGATGATGATGCAT	0.398000														27			5		0	0	0.001984	0	0
IL36G	56300	broad.mit.edu	37	2	113737642	113737642	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:113737642G>A	uc002tio.1	+	3	286	c.217G>A	c.(217-219)Gat>Aat	p.D73N	IL36G_uc010fkr.1_Missense_Mutation_p.D38N	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	Homo sapiens interleukin 36, gamma (IL36G), mRNA.	73					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						AGGCAGAGGGGATCCCATTTA	0.418000														27			4		0	0	0.009096	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36096368	36096368	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:36096368T>G	uc001wtj.3	-	32	5658	c.5267A>C	c.(5266-5268)cAa>cCa	p.Q1756P	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Missense_Mutation_p.Q1756P|RALGAPA1_uc010tpv.2_Missense_Mutation_p.Q1769P|RALGAPA1_uc010tpw.1_Missense_Mutation_p.Q1803P	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1756	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGAGGTTTTTGAGGTATTGG	0.338000														32			13		0	0	0.008871	0	0
PLXNA4	91584	broad.mit.edu	37	7	131913112	131913112	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:131913112T>A	uc003vra.4	-	5	1950	c.1721A>T	c.(1720-1722)aAc>aTc	p.N574I		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	574						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TACCAGCACGTTGTACTGAGA	0.592000														35			4		0	0	0.000602	0	0
RIT1	6016	broad.mit.edu	37	1	155870363	155870364	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:155870363_155870364GG>AA	uc001fmh.1	-	5	662_663	c.475_476CC>TT	c.(475-477)ccc>TTc	p.P159F	RIT1_uc010pgr.1_Missense_Mutation_p.P123F	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Homo sapiens Ras-like without CAAX 1 (RIT1), mRNA.	159					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CTCAAAAAAGGGACAGCTGAAT	0.431000														78			11		0	0	0.004672	0	0
DUOX1	53905	broad.mit.edu	37	15	45437255	45437255	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr15:45437255T>C	uc001zus.1	+	18	2645	c.2299T>C	c.(2299-2301)Ttt>Ctt	p.F767L	DUOX1_uc001zut.1_Missense_Mutation_p.F767L|DUOX1_uc010bee.1_Missense_Mutation_p.F147L|DUOX1_uc001zuu.3_5'Flank	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	767					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCTGGAGACCTTTTTCAGGCA	0.587000														44			3		0	0	0.009096	0	0
UGT2A1	10941	broad.mit.edu	37	4	70504997	70504997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:70504997C>T	uc011caq.2	-	2	1081	c.965G>A	c.(964-966)gGa>gAa	p.G322E	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.G121E|UGT2A1_uc021xox.1_Missense_Mutation_p.G121E|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	112					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAGAAGTTTTCCTAGTTCTTT	0.363000														40			27		0	0	0.006320	0	0
PREX2	80243	broad.mit.edu	37	8	69058471	69058471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:69058471G>A	uc003xxv.1	+	33	4142	c.4115G>A	c.(4114-4116)gGa>gAa	p.G1372E		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1372					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAAGCAGAAGGAAGTCGGCAA	0.328000														18			9		0	0	0.004482	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182636	140182636	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:140182636G>A	uc003lhf.2	+	0	1854	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.A618A	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	630	Cadherin 6.				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)			CCGGCGGTGCGCGCATCCCGT	0.672000														19			5		0	0	0.001168	0	0
MPPED2	744	broad.mit.edu	37	11	30439175	30439175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:30439175G>A	uc001msr.3	-	3	663	c.542C>T	c.(541-543)cCg>cTg	p.P181L	MPPED2_uc001msq.3_Missense_Mutation_p.P181L|MPPED2_uc009yji.3_Missense_Mutation_p.P55L	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	Homo sapiens metallophosphoesterase domain containing 2 (MPPED2), transcript variant 1, mRNA.	181					nervous system development		hydrolase activity|metal ion binding	p.P181Q(3)|p.P181S(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ATTAAACCACGGGGTCCTTTG	0.527000														18			14		0	0	0.003163	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121995289	121995290	+	Silent	DNP	GG	AA	AA			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:121995289_121995290GG>AA	uc002tmx.3	-	9	1005_1006	c.912_913CC>TT	c.(910-915)cacctg>caTTtg	p.304_305HL>HL	TFCP2L1_uc010flr.3_Silent_p.304_305HL>HL	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	304					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.L305M(2)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GATGGGAGCAGGTGCTGTGAGC	0.609000														23			8		0	0	0.004672	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					47			15		0	0	0.004007	0	0
NEK5	341676	broad.mit.edu	37	13	52660478	52660478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:52660478C>T	uc001vge.3	-	15	1554	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	472							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.Q472*(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGGCGTATTTCCTCTAACTGC	0.358000														28			17		0	0	0.010504	0	0
AHNAK	79026	broad.mit.edu	37	11	62295721	62295721	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:62295721G>A	uc001ntl.3	-	4	6468	c.6168C>T	c.(6166-6168)ttC>ttT	p.F2056F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2056					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGGCATGCTGAACTTGGGCA	0.512000														205			44		0	0	0.014410	0	0
PNCK	139728	broad.mit.edu	37	X	152939616	152939616	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:152939616G>A	uc011myu.2	-	0	201	c.15C>T	c.(13-15)ttC>ttT	p.F5F	PNCK_uc011myt.2_5'Flank|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_Silent_p.F5F|PNCK_uc011myv.2_5'Flank|PNCK_uc011myw.2_Intron	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	0						cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACTTGCCCGAAAGCAGCCT	0.667000														29			4		0	0	0.001168	0	0
PAPLN	89932	broad.mit.edu	37	14	73730438	73730438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:73730438C>T	uc010ttx.2	+	18	2972	c.2809C>T	c.(2809-2811)Ccg>Tcg	p.P937S	PAPLN_uc001xnw.4_Missense_Mutation_p.P910S|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.P921S|PAPLN_uc010arm.3_Missense_Mutation_p.P136S|PAPLN_uc010arn.3_Missense_Mutation_p.P137S	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	937	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CGACACTGCCCCGGAATCCCA	0.642000														18			10		0	0	0.006214	0	0
KCTD16	57528	broad.mit.edu	37	5	143853596	143853596	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:143853596C>T	uc003lnm.1	+	3	1835	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	KCTD16_uc003lnn.1_Silent_p.F402F	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	402						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TCCAGGATTTCCTAAAAATCA	0.428000														57			7		0	0	0.003080	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563998	176563998	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:176563998C>A	uc001gkz.3	+	2	2422	c.1258C>A	c.(1258-1260)Cgt>Agt	p.R420S	PAPPA2_uc001gky.1_Missense_Mutation_p.R420S|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	420					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCACTATTTCCGTGGACACCT	0.567000														70			12		9.31168e-06	2.24666e-05	0.001855	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576414	158576414	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:158576414C>T	uc010pio.2	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGTACCTCTTCCTTTCCTTCC	0.517000														146			22		0	0	0.003330	0	0
C18orf34	374864	broad.mit.edu	37	18	30969504	30969504	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr18:30969504C>T	uc010xbr.1	-	4	350	c.208_splice	c.e4+1	p.G70_splice	C18orf34_uc002kxn.2_Splice_Site_p.G70_splice|C18orf34_uc010dmf.1_Splice_Site_p.G70_splice|C18orf34_uc002kxo.2_Splice_Site_p.G70_splice|C18orf34_uc002kxp.3_Splice_Site_p.G70_splice	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	70										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CAGTCCTCACCTTCAGTATTT	0.284000														46			5		0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9056855	9056855	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9056855C>T	uc002mkp.3	-	2	30795	c.30591G>A	c.(30589-30591)caG>caA	p.Q10197Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10199	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.Q10197H(1)|p.Q5830H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTTGGAACTCTGTAAAAGGT	0.463000														36			15		0	0	0.006122	0	0
OR5P3	120066	broad.mit.edu	37	11	7847265	7847265	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:7847265G>A	uc010rbg.2	-	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTTCCTTAGGAAGCTCATGA	0.507000														31			28		0	0	0.005443	0	0
GLI2	2736	broad.mit.edu	37	2	121740439	121740439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:121740439C>T	uc010flp.3	+	9	1696	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	GLI2_uc002tmq.1_Missense_Mutation_p.R228C|GLI2_uc002tmr.1_Missense_Mutation_p.R211C|GLI2_uc002tmt.4_Missense_Mutation_p.R228C|GLI2_uc002tmu.4_Missense_Mutation_p.R211C|GLI2_uc002tmw.1_Missense_Mutation_p.R539C	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	556					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCACCAGAATCGCACCCACTC	0.627000														31			4		0	0	0.000602	0	0
CACNA1B	774	broad.mit.edu	37	9	140777324	140777324	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr9:140777324C>T	uc004cog.3	+	2	664	c.519C>T	c.(517-519)gtC>gtT	p.V173V	AK128414_uc004cof.1_Non-coding_Transcript|CACNA1B_uc022bqn.1_Silent_p.V173V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	173					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACTTCGTGGTCGTCCTCACAG	0.607000														120			35		0	0	0.004878	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	A	A	rs121913499		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma									45			7		0	0	0.006214	0	0
TPTE2	93492	broad.mit.edu	37	13	20000571	20000571	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:20000571G>A	uc001umd.3	-	18	1600	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Silent_p.F352F|TPTE2_uc001ume.3_Silent_p.F386F|TPTE2_uc009zzm.3_Silent_p.F134F|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Silent_p.F134F	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	463	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCACCGAAGAGAAAAACTGCA	0.358000														74			4		0	0	0.001168	0	0
FCRL5	83416	broad.mit.edu	37	1	157494241	157494241	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:157494241G>A	uc009wsm.3	-	9	2225	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	FCRL5_uc001fqu.3_Silent_p.I689I|FCRL5_uc010phv.1_Silent_p.I689I|FCRL5_uc010phw.1_Silent_p.I604I	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	689	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACCAGTACAGGATTGGGGAGG	0.577000														29			26		0	0	0.004656	0	0
GIGYF1	64599	broad.mit.edu	37	7	100281648	100281648	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:100281648G>A	uc003uwg.1	-	14	2872	c.1863C>T	c.(1861-1863)ccC>ccT	p.P621P		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	621										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGCACCTGGGGGGTTTGAGCG	0.652000														17			12		0	0	0.001855	0	0
WFIKKN1	117166	broad.mit.edu	37	16	683960	683960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:683960G>A	uc002cht.1	+	1	1792	c.1550G>A	c.(1549-1551)gGc>gAc	p.G517D	AK128777_uc002chs.1_3'UTR|AK301549_uc010uuk.2_5'Flank	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 (WFIKKN1), mRNA.	517	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				CTGGACGCCGGCAGCTACGTC	0.687000														5			4		0	0	0.009096	0	0
PZP	5858	broad.mit.edu	37	12	9317861	9317861	+	Silent	SNP	A	G	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:9317861A>G	uc001qvl.3	-	18	2390	c.2361T>C	c.(2359-2361)tcT>tcC	p.S787S	PZP_uc009zgl.3_Silent_p.S656S|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Silent_p.S119S	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.									p.S787Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGGCAGTGGAAGAGATACCAA	0.562000														42			13		0	0	0.002450	0	0
ALPK2	115701	broad.mit.edu	37	18	56202246	56202246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr18:56202246C>T	uc002lhj.4	-	4	5387	c.5173G>A	c.(5173-5175)Gag>Aag	p.E1725K	ALPK2_uc002lhk.1_Missense_Mutation_p.E1056K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1725							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTTACTCCCTCAGCTAAATGT	0.502000														32			11		0	0	0.008291	0	0
BAI3	577	broad.mit.edu	37	6	69653823	69653823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:69653823G>A	uc010kak.3	+	4	1408	c.1132G>A	c.(1132-1134)Gga>Aga	p.G378R	BAI3_uc003pev.4_Missense_Mutation_p.G378R	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	378	TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G378*(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCCTCAGTATGGAGGAAGGCC	0.453000														32			42		0	0	0.010771	0	0
NPY5R	4889	broad.mit.edu	37	4	164271499	164271499	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:164271499C>G	uc003iqn.3	+	3	256	c.74C>G	c.(73-75)tCt>tGt	p.S25C	NPY5R_uc021xtw.1_Missense_Mutation_p.S25C	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	25					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ACTCGGAATTCTGATTTCCCA	0.388000														45			13		0	0	0.001855	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450353	105450353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:105450353C>T	uc022cca.1	+	0	928	c.928C>T	c.(928-930)Cct>Tct	p.P310S	MUM1L1_uc004emg.2_Missense_Mutation_p.P310S|MUM1L1_uc004emf.2_Missense_Mutation_p.P310S	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	310										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCAGCATGCCCTGGGAGTTG	0.458000														6			7		0	0	0.003080	0	0
RBM25	58517	broad.mit.edu	37	14	73566103	73566103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:73566103C>T	uc010ttu.2	+	8	1021	c.745C>T	c.(745-747)Cca>Tca	p.P249S	RBM25_uc001xnn.4_Missense_Mutation_p.P249S|RBM25_uc001xno.3_Missense_Mutation_p.P249S|RBM25_uc001xnp.3_Missense_Mutation_p.P44S	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	249					RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CCGCAGATTTCCAGTGGCCCC	0.358000														38			25		0	0	0.007291	0	0
FAM188B	84182	broad.mit.edu	37	7	30951842	30951842	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:30951842C>T	uc003tbv.2	+	0	428	c.318C>T	c.(316-318)atC>atT	p.I106I	FAM188B_uc011kac.1_Silent_p.I166I	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGGGGCCATCGTCGCCACCG	0.642000														75			30		0	0	0.003271	0	0
C19orf18	147685	broad.mit.edu	37	19	58485503	58485503	+	Silent	SNP	A	G	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:58485503A>G	uc002qqv.3	-	1	292	c.190T>C	c.(190-192)Ttg>Ctg	p.L64L		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA.	64						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		ATCCCAGGCAACTGGGTTTTA	0.468000														49			18		0	0	0.010504	0	0
CD2	914	broad.mit.edu	37	1	117311214	117311214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:117311214C>T	uc001egu.4	+	4	894	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	289	Pro-rich.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACCTGGTCATCGTTCCCAGGC	0.587000														23			8		0	0	0.003080	0	0
SIRPB1	10326	broad.mit.edu	37	20	1600559	1600559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:1600559G>A	uc010gai.3	-	0	131	c.32C>T	c.(31-33)cCt>cTt	p.P11L	SIRPB1_uc002wfk.4_Missense_Mutation_p.P11L|SIRPB1_uc002wfl.4_Missense_Mutation_p.P11L	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	11					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GAAAGGACTAGGAAGGTGGGG	0.572000														30			5		0	0	0.003080	0	0
PTPRT	11122	broad.mit.edu	37	20	41076885	41076885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:41076885G>A	uc002xkg.3	-	8	1719	c.1535C>T	c.(1534-1536)aCc>aTc	p.T512I	PTPRT_uc010ggj.3_Missense_Mutation_p.T512I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	512	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GACCCCATTGGTCTCATTGGG	0.493000														128			20		0	0	0.014323	0	0
DSCAM	1826	broad.mit.edu	37	21	41684189	41684189	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr21:41684189C>T	uc002yyq.1	-	8	2333	c.1881G>A	c.(1879-1881)acG>acA	p.T627T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	627	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.I626V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCCAGGTGATCGTGATGGGTA	0.532000														18			7		0	0	0.001984	0	0
FOLH1B	219595	broad.mit.edu	37	11	89424676	89424676	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:89424676C>T	uc001pda.3	+	11	1552	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	342					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCGAGAGACTCCAGGACTTTG	0.274000														32			8		0	0	0.003080	0	0
KCNK13	56659	broad.mit.edu	37	14	90651046	90651046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:90651046C>T	uc001xye.1	+	1	1368	c.926C>T	c.(925-927)tCa>tTa	p.S309L		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	309						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CTCTTGCGATCACGCAGGAAC	0.577000														34			29		0	0	0.010818	0	0
FAM149A	25854	broad.mit.edu	37	4	187074901	187074901	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:187074901C>G	uc003iyt.4	+	4	768	c.189C>G	c.(187-189)tgC>tgG	p.C63W	FAM149A_uc011cla.1_Missense_Mutation_p.C63W|FAM149A_uc010isj.2_Missense_Mutation_p.C63W|FAM149A_uc010isk.2_Non-coding_Transcript|FAM149A_uc010isl.3_Missense_Mutation_p.C63W|FAM149A_uc011clb.2_Missense_Mutation_p.C63W	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	354										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TCAGTGCCTGCGGACACAGCA	0.468000														98			40		0	0	0.008740	0	0
TTN	7273	broad.mit.edu	37	2	179577224	179577224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:179577224G>A	uc021vsy.1	-	91	23918	c.23693C>T	c.(23692-23694)tCg>tTg	p.S7898L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4559L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8825	Ig-like 61.						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)			CCAGGTAACCGAAATGGGAGG	0.423000														12			4		0	0	0.009096	0	0
IFNW1	3467	broad.mit.edu	37	9	21141108	21141108	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr9:21141108C>T	uc003zol.1	-	0	1037	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	154					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCTTCTCTTTCAGGTAGACAC	0.473000														25			11		0	0	0.008291	0	0
abParts	0	broad.mit.edu	37	14	106641552	106641552	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:106641552C>T	uc021ser.1	-	1494		c.29831_splice	c.e1494+1							Parts of antibodies, mostly variable regions.																		TGTGGGTTTTCACACTGTGTC	0.498000														65			42		0	0	0.013114	0	0
DNAH5	1767	broad.mit.edu	37	5	13776634	13776634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:13776634C>T	uc003jfd.2	-	54	9329	c.9287G>A	c.(9286-9288)cGa>cAa	p.R3096Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3096	AAA 4 (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)					AGCTCTGTTTCGAAATTTCTC	0.478000									Kartagener syndrome					44			10		0	0	0.006214	0	0
CACNA1A	773	broad.mit.edu	37	19	13418658	13418658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:13418658C>T	uc002mwy.3	-	14	2160	c.1924G>A	c.(1924-1926)Gat>Aat	p.D642N	CACNA1A_uc010dzc.2_Missense_Mutation_p.D168N|CACNA1A_uc010xnd.2_Missense_Mutation_p.D642N|CACNA1A_uc021ups.1_Missense_Mutation_p.D642N|CACNA1A_uc010xne.2_Missense_Mutation_p.D642N|CACNA1A_uc010dze.2_Missense_Mutation_p.D642N|CACNA1A_uc021upt.1_Missense_Mutation_p.D643N	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	643					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTCCCTTCATCGAAATTAAAC	0.547000														63			19		0	0	0.012319	0	0
OR4A5	81318	broad.mit.edu	37	11	51412063	51412063	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:51412063G>A	uc001nhi.2	-	0	386	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F111L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CCACCAGAAGGAAGACCTCAG	0.453000														37			6		0	0	0.001168	0	0
TPTE	7179	broad.mit.edu	37	21	10920142	10920142	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr21:10920142T>C	uc002yip.1	-	18	1480	c.1112A>G	c.(1111-1113)gAa>gGa	p.E371G	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.E353G|TPTE_uc002yir.1_Missense_Mutation_p.E333G|TPTE_uc010gkv.1_Missense_Mutation_p.E233G	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	371	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTTCGCCTTTCTCCAAAATA	0.373000														76			6		0	0	0.004482	0	0
IL36RN	26525	broad.mit.edu	37	2	113820076	113820076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:113820076G>A	uc002tis.3	+	4	423	c.290G>A	c.(289-291)aGc>aAc	p.S97N	IL36RN_uc002tit.3_Missense_Mutation_p.S97N	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA.	97						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAATCCAAGAGCTTCACCTTC	0.627000														19			11		0	0	0.013537	0	0
RGPD3	653489	broad.mit.edu	37	2	107049684	107049684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:107049684C>T	uc010ywi.1	-	15	2320	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	755					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTATAGTTTTCGAGTTCCTGC	0.368000														220			31		0	0	0.003755	0	0
SLC7A14	57709	broad.mit.edu	37	3	170219037	170219037	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:170219037G>A	uc003fgz.2	-	2	718	c.402C>T	c.(400-402)ttC>ttT	p.F134F	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	134						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCCAGCCAATGAAAAATGCCA	0.537000														17			7		0	0	0.003080	0	0
PCSK6	5046	broad.mit.edu	37	15	101906451	101906451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr15:101906451G>A	uc002bxa.2	-	13	2119	c.1805C>T	c.(1804-1806)aCc>aTc	p.T602I	PCSK6_uc010bpd.3_Missense_Mutation_p.T399I|PCSK6_uc002bwy.3_Missense_Mutation_p.T602I|PCSK6_uc010bpe.3_Missense_Mutation_p.T599I|PCSK6_uc002bxb.2_Missense_Mutation_p.T602I|PCSK6_uc002bxc.1_Missense_Mutation_p.T602I|PCSK6_uc002bxd.1_Missense_Mutation_p.T602I|PCSK6_uc002bxe.3_Missense_Mutation_p.T602I	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	603	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GATTTCCAAGGTCCACTGCCC	0.502000														15			8		0	0	0.004482	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997268	146997268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:146997268C>T	uc003weu.2	+	8	1900	c.1384C>T	c.(1384-1386)Cgc>Tgc	p.R462C	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	462	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCACGAGGTTCGCTTCCTAGC	0.403000										HNSCC(39;0.1)				55			27		0	0	0.010818	0	0
UNC45B	146862	broad.mit.edu	37	17	33507649	33507649	+	Missense_Mutation	SNP	G	A	A	rs34242925	byFrequency	TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:33507649G>A	uc002hja.3	+	17	2430	c.2333G>A	c.(2332-2334)cGg>cAg	p.R778Q	UNC45B_uc002hjb.3_Missense_Mutation_p.R776Q|UNC45B_uc002hjc.3_Missense_Mutation_p.R776Q|UNC45B_uc010cto.3_Missense_Mutation_p.R697Q	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	778					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GATCAGCTGCGGCAGGCGGCC	0.572000														44			6		0	0	0.001168	0	0
SEMA3A	10371	broad.mit.edu	37	7	83689791	83689791	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:83689791G>A	uc003uhz.3	-	4	852	c.537C>T	c.(535-537)tcC>tcT	p.S179S		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	179	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTATTAAAAGGGATGCTGTCA	0.348000														92			60		0	0	0.014410	0	0
SPTA1	6708	broad.mit.edu	37	1	158581126	158581126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:158581126C>T	uc001fst.1	-	51	7387	c.7188G>A	c.(7186-7188)atG>atA	p.M2396I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2396					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)					CCCGTGGGTCCATATATTGCT	0.433000														44			11		0	0	0.001855	0	0
UNC79	57578	broad.mit.edu	37	14	94048633	94048633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:94048633C>T	uc001ybv.1	+	16	2298	c.2215C>T	c.(2215-2217)Cct>Tct	p.P739S	UNC79_uc001ybs.1_Missense_Mutation_p.P739S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	916						integral to membrane		p.V738V(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGAGGAGAATCCTGCAAGCAA	0.572000														28			6		0	0	0.001168	0	0
CIR1	9541	broad.mit.edu	37	2	175260318	175260318	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:175260318C>T	uc002uim.3	-	0	126	c.33G>A	c.(31-33)aaG>aaA	p.K11K	CIR1_uc002uin.3_5'UTR|SCRN3_uc002uiq.3_5'Flank|SCRN3_uc010zen.2_5'Flank|SCRN3_uc010zeo.2_5'Flank|SCRN3_uc002uir.1_5'Flank	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	Homo sapiens corepressor interacting with RBPJ, 1 (CIR1), mRNA.	11	Interaction with RBPJ.				RNA splicing|mRNA processing|negative regulation of transcription, DNA-dependent	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						GAAAGTCTTTCTTGCACATGA	0.502000														108			23		0	0	0.006320	0	0
PTH2R	5746	broad.mit.edu	37	2	209302514	209302514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:209302514G>A	uc010zjb.2	+	3	638	c.352G>A	c.(352-354)Gga>Aga	p.G118R	PTH2R_uc002vdb.3_Missense_Mutation_p.G107R	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	107						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TAACCCCAATGGAACATGGGA	0.408000														27			5		0	0	0.000602	0	0
CD93	22918	broad.mit.edu	37	20	23065357	23065358	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:23065357_23065358CC>TT	uc002wsv.3	-	0	1620_1621	c.1472_1473GG>AA	c.(1471-1473)ggg>gAA	p.G491E		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	491					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.E490K(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCACGGTGCTCCCTTCTTTCTC	0.634000														45			8		0	0	0.004672	0	0
GDF5OS	554250	broad.mit.edu	37	20	34022112	34022112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:34022112C>T	uc002xcj.3	+	1	598	c.523C>T	c.(523-525)Ctt>Ttt	p.L175F	GDF5_uc010gfc.1_Silent_p.K367K|GDF5_uc002xck.1_Silent_p.K367K					Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds.									p.K367N(1)		cervix(1)|endometrium(4)|lung(4)	9						CATACACGGTCTTATCGTCCT	0.597000														100			23		0	0	0.007291	0	0
ZBED2	79413	broad.mit.edu	37	3	111312497	111312497	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:111312497C>T	uc003dxy.3	-	1	1453	c.552G>A	c.(550-552)gtG>gtA	p.V184V	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Silent_p.V184V	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	184							DNA binding|metal ion binding	p.E183V(1)		large_intestine(3)|lung(1)|skin(2)	6						TGGCCCTTTCCACCTCCTCCA	0.582000														25			14		0	0	0.002450	0	0
STAB2	55576	broad.mit.edu	37	12	104056642	104056642	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:104056642G>A	uc001tjw.3	+	17	2074	c.1888G>A	c.(1888-1890)Gat>Aat	p.D630N		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	630	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCTGGCAAATGATGTGGCAAT	0.453000														34			30		0	0	0.010818	0	0
HEATR1	55127	broad.mit.edu	37	1	236749560	236749560	+	Silent	SNP	T	C	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:236749560T>C	uc001hyd.2	-	14	2060	c.1908A>G	c.(1906-1908)ctA>ctG	p.L636L		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	636					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCCTCTTAATAGAGGGTGCA	0.318000														17			17		0	0	0.004990	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390336	8390336	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:8390336C>T	uc001apb.3	+	3	783	c.783C>T	c.(781-783)gcC>gcT	p.A261A	SLC45A1_uc001apc.3_5'UTR	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	261					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGGAGGGCCCTGGGGGGAC	0.617000														44			6		0	0	0.003080	0	0
ZNF812	729648	broad.mit.edu	37	19	9801452	9801452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9801452G>A	uc021uop.1	-	5	1373	c.727C>T	c.(727-729)Cat>Tat	p.H243Y	ZNF812_uc010xkx.2_Missense_Mutation_p.H139Y	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTCCTTTATGAATTTTCACA	0.333000														23			8		0	0	0.006214	0	0
RYR1	6261	broad.mit.edu	37	19	38991538	38991538	+	Missense_Mutation	SNP	C	T	T	rs118192178		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:38991538C>T	uc002oit.3	+	46	7652	c.7522C>T	c.(7522-7524)Cgt>Tgt	p.R2508C	RYR1_uc002oiu.3_Missense_Mutation_p.R2508C|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2508	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTTCCTGGACCGTGTGTATGG	0.622000														16			12		0	0	0.013537	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382809	56382810	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:56382809_56382810GG>AA	uc002ivx.4	-	28	6242_6243	c.5371_5372CC>TT	c.(5371-5373)ccc>TTc	p.P1791F	BZRAP1_uc002ivv.3_5'Flank|BZRAP1_uc002ivw.3_Missense_Mutation_p.P23F|BZRAP1_uc010dcs.3_Missense_Mutation_p.P1731F|BZRAP1_uc010wnt.2_Missense_Mutation_p.P1782F	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1791	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCCGGAAGGGCAGCTCTGCC	0.579000														29			34		0	0	0.004672	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459295	92459295	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr15:92459295T>C	uc002bqx.2	+	1	454	c.253T>C	c.(253-255)Ttc>Ctc	p.F85L	SLCO3A1_uc002bqy.2_Missense_Mutation_p.F85L|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.F27L	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	85					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CGCTAGCAGCTTCGAGATCGG	0.647000														25			9		0	0	0.004482	0	0
FAT4	79633	broad.mit.edu	37	4	126412372	126412372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:126412372C>T	uc003ifj.4	+	16	14395	c.14395C>T	c.(14395-14397)Cgc>Tgc	p.R4799C	FAT4_uc011cgp.2_Missense_Mutation_p.R3040C|FAT4_uc003ifi.1_Missense_Mutation_p.R2276C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4799					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAACACACCTCGCCCTAGAAA	0.532000														57			15		0	0	0.004007	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88307670	88307670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr9:88307670C>T	uc011lte.2	-	1	314	c.247G>A	c.(247-249)Gag>Aag	p.E83K	AGTPBP1_uc011ltd.2_Missense_Mutation_p.E31K|AGTPBP1_uc010mqc.3_Missense_Mutation_p.E31K	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	31					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TCTGAAGGCTCAGCATTGATC	0.393000														34			12		0	0	0.010729	0	0
RYR2	6262	broad.mit.edu	37	1	237789083	237789083	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:237789083G>C	uc001hyl.1	+	39	6265	c.6145G>C	c.(6145-6147)Gag>Cag	p.E2049Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2049	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAACCAGTTGAGAGTGACTC	0.433000														14			13		0	0	0.013537	0	0
MIB2	142678	broad.mit.edu	37	1	1560564	1560564	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:1560564C>T	uc001agg.3	+	6	1111	c.1066_splice	c.e6+1	p.G356_splice	MIB2_uc001agh.3_Splice_Site_p.G342_splice|MIB2_uc001agi.3_Splice_Site_p.G356_splice|MIB2_uc001agj.3_Splice_Site_p.G140_splice|MIB2_uc001agk.3_Intron|MIB2_uc001agl.2_Splice_Site_p.G255_splice|MIB2_uc001agm.3_Intron|MIB2_uc010nyq.2_Splice_Site_p.G255_splice|MIB2_uc009vkh.3_Splice_Site_p.G140_splice|MIB2_uc001agn.3_Splice_Site	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	299					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCCCAAGGCTCGGTATGAGGC	0.642000														23			5		0	0	0.001168	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														38			4		0	0	0.000602	0	0
LRRC61	65999	broad.mit.edu	37	7	150034155	150034155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:150034155G>A	uc003wgz.4	+	0	205	c.205G>A	c.(205-207)Ggc>Agc	p.G69S	LRRC61_uc003wgv.3_Missense_Mutation_p.G69S|LRRC61_uc003wgx.3_Missense_Mutation_p.G69S|LRRC61_uc003wgw.3_Missense_Mutation_p.G69S	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	Homo sapiens leucine rich repeat containing 61 (LRRC61), transcript variant 2, mRNA.	69										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CACCCACCTGGGCCCGCTGGC	0.642000														67			7		0	0	0.004482	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696144	222696144	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:222696144C>T	uc001hnh.1	-	8	2032	c.1974G>A	c.(1972-1974)caG>caA	p.Q658Q		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	658					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.Q658*(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAGACAAACCCTGGGCTGGGC	0.488000														195			120		0	0	0.014410	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	157008	157008	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:157008C>T	uc003jak.2	+	8	1451	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	467					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)		TGGCGTCACTCCTGGAAGGGA	0.632000														14			6		0	0	0.001168	0	0
SPOCK1	6695	broad.mit.edu	37	5	136448179	136448179	+	Missense_Mutation	SNP	G	A	A	rs148446530		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:136448179G>A	uc003lbo.3	-	3	610	c.419C>T	c.(418-420)cCc>cTc	p.P140L	SPOCK1_uc003lbp.3_Missense_Mutation_p.P140L	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	140	Kazal-like.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGTGCCACGGGACAGGGCTT	0.463000														31			8		0	0	0.004482	0	0
ULBP3	79465	broad.mit.edu	37	6	150385816	150385816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:150385816G>A	uc003qns.3	-	3	743	c.662C>T	c.(661-663)cCc>cTc	p.P221L	ULBP3_uc011eej.1_Missense_Mutation_p.P96L	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	Homo sapiens UL16 binding protein 3 (ULBP3), mRNA.	221					antigen processing and presentation|immune response|natural killer cell activation	MHC class I protein complex|anchored to membrane	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TATGGCTTTGGGTTGAGCTAA	0.527000														22			31		0	0	0.013726	0	0
UCP1	7350	broad.mit.edu	37	4	141489766	141489767	+	Missense_Mutation	DNP	GG	AA	AA	rs150067245	byFrequency	TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:141489766_141489767GG>AA	uc011chj.2	-	0	193_194	c.117_118CC>TT	c.(115-120)gtccgg>gtTTgg	p.R40W	UCP1_uc011chk.2_Missense_Mutation_p.R40W	NM_021833	NP_068605	P25874	UCP1_HUMAN	Homo sapiens uncoupling protein 1 (mitochondrial, proton carrier) (UCP1), nuclear gene encoding mitochondrial protein, mRNA.	40					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					ACCTGGAGCCGGACTTTGGCCG	0.594000														20			14		0	0	0.004672	0	0
MYBPHL	343263	broad.mit.edu	37	1	109839752	109839752	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:109839752G>T	uc001dxk.1	-	3	540	c.490C>A	c.(490-492)Ctg>Atg	p.L164M	MYBPHL_uc010ovh.1_Missense_Mutation_p.L141M|MYBPHL_uc001dxl.3_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	Homo sapiens myosin binding protein H-like (MYBPHL), mRNA.	164	Fibronectin type-III.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GTCCATTCCAGTGTAGCGCTG	0.577000														217			35		2.87052e-16	6.97516e-16	0.005524	1	0
DGKQ	1609	broad.mit.edu	37	4	959282	959282	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:959282G>A	uc003gbw.3	-	13	1689	c.1615C>T	c.(1615-1617)Caa>Taa	p.Q539*	DGKQ_uc010ibn.3_Intron	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	539					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCTCACCTTGGGAGGAGTAG	0.647000														10			9		0	0	0.008291	0	0
XIRP2	129446	broad.mit.edu	37	2	168101641	168101641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:168101641C>T	uc002udx.3	+	8	3828	c.3739C>T	c.(3739-3741)Cca>Tca	p.P1247S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P1072S|XIRP2_uc010fpq.3_Missense_Mutation_p.P1025S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1072					actin cytoskeleton organization	cell junction	actin binding	p.P1247Q(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAAAACCAACCAATTGATAA	0.343000														22			8		0	0	0.003080	0	0
CECR2	27443	broad.mit.edu	37	22	18022561	18022561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr22:18022561C>T	uc010gqw.1	+	14	2657	c.2657C>T	c.(2656-2658)cCc>cTc	p.P886L	CECR2_uc010gqv.1_Missense_Mutation_p.P747L|CECR2_uc002zml.2_Missense_Mutation_p.P747L	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	930					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCTGCACACCCCCGTTTACCT	0.637000														37			34		0	0	0.007835	0	0
EIF4G1	1981	broad.mit.edu	37	3	184040934	184040934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:184040934G>A	uc003fnp.3	+	13	2264	c.1993G>A	c.(1993-1995)Gac>Aac	p.D665N	EIF4G1_uc003fno.2_Missense_Mutation_p.D606N|EIF4G1_uc010hxw.2_Missense_Mutation_p.D501N|EIF4G1_uc010hxx.3_Missense_Mutation_p.D672N|EIF4G1_uc003fnt.3_Missense_Mutation_p.D376N|EIF4G1_uc010hxy.3_Missense_Mutation_p.D672N|EIF4G1_uc003fnq.3_Missense_Mutation_p.D578N|EIF4G1_uc003fnr.3_Missense_Mutation_p.D501N|EIF4G1_uc003fns.3_Missense_Mutation_p.D625N|EIF4G1_uc003fnv.4_Missense_Mutation_p.D665N|EIF4G1_uc003fnw.3_Missense_Mutation_p.D672N|EIF4G1_uc003fnx.3_Missense_Mutation_p.D469N|SNORD66_uc003fnz.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	665	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGTGGCCCAGACTTCACTCC	0.597000														58			14		0	0	0.002450	0	0
CSNK2B	1460	broad.mit.edu	37	6	31636405	31636405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:31636405C>T	uc003nvr.1	+	3	605	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F	GPANK1_uc021yuu.1_5'Flank|GPANK1_uc003nvo.4_5'Flank|GPANK1_uc003nvp.4_5'Flank|GPANK1_uc003nvq.3_5'Flank|CSNK2B_uc010jta.1_3'UTR|CSNK2B_uc021yuv.1_Missense_Mutation_p.L89F|LY6G5B_uc003nvt.1_5'Flank	NM_001320	NP_001311	P67870	CSK2B_HUMAN	Homo sapiens casein kinase 2, beta polypeptide (CSNK2B), mRNA.	89					Wnt receptor signaling pathway|adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding	p.L89P(1)		central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						CCGCTACATCCTTACCAACCG	0.532000														158			46		0	0	0.014410	0	0
OCEL1	79629	broad.mit.edu	37	19	17338717	17338717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:17338717G>A	uc002nfp.3	+	3	523	c.521G>A	c.(520-522)gGa>gAa	p.G174E		NM_024578	NP_078854	Q9H607	OCEL1_HUMAN	Homo sapiens occludin/ELL domain containing 1 (OCEL1), mRNA.	174										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						GACCAGTACGGAGAGTTCTTG	0.612000														42			20		0	0	0.012319	0	0
GLYR1	84656	broad.mit.edu	37	16	4862212	4862212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:4862212G>A	uc002cxx.4	-	12	1194	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Missense_Mutation_p.P300L|GLYR1_uc002cya.2_Missense_Mutation_p.P380L|GLYR1_uc010uxv.1_Missense_Mutation_p.P305L	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	386					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCCTGAGACGGGGGCTTCCAG	0.592000														13			7		0	0	0.004482	0	0
UPF2	26019	broad.mit.edu	37	10	12043749	12043749	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:12043749A>C	uc001ila.3	-	4	2054	c.1580T>G	c.(1579-1581)aTt>aGt	p.I527S	UPF2_uc001ilb.3_Missense_Mutation_p.I527S|UPF2_uc001ilc.3_Missense_Mutation_p.I527S|UPF2_uc009xiz.2_Missense_Mutation_p.I527S	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	527					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GTCATCATTAATTTCTAGATT	0.353000														248			66		0	0	0.014410	0	0
TRPC6	7225	broad.mit.edu	37	11	101342876	101342876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:101342876C>T	uc001pgk.4	-	7	2622	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	TRPC6_uc009ywy.3_Missense_Mutation_p.E617K|TRPC6_uc009ywz.1_Missense_Mutation_p.E678K	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	733					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.E733K(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACCTCAATTTCCTGGAATGAA	0.343000														38			31		0	0	0.013726	0	0
VWA5A	4013	broad.mit.edu	37	11	123993680	123993680	+	Silent	SNP	A	G	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:123993680A>G	uc001pzu.3	+	7	983	c.774A>G	c.(772-774)ggA>ggG	p.G258G	VWA5A_uc001pzr.3_Silent_p.G258G|VWA5A_uc001pzs.3_Silent_p.G258G|VWA5A_uc010sae.2_Silent_p.G274G|VWA5A_uc001pzt.3_Silent_p.G258G	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	258										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATTTGATGGGAGATCCATCTG	0.393000														26			9		0	0	0.008291	0	0
PKD1L1	168507	broad.mit.edu	37	7	47869151	47869151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:47869151G>A	uc003tny.2	-	43	6641	c.6607C>T	c.(6607-6609)Cac>Tac	p.H2203Y	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2203					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTAAAAAAGTGGTTGTCAGCT	0.488000														144			39		0	0	0.006999	0	0
ALPK2	115701	broad.mit.edu	37	18	56203078	56203078	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr18:56203078G>A	uc002lhj.4	-	4	4555	c.4341C>T	c.(4339-4341)atC>atT	p.I1447I	ALPK2_uc002lhk.1_Silent_p.I778I	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1447							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGGCCGGCTGGATTTCCGCTT	0.527000														41			24		0	0	0.004656	0	0
DPP3	10072	broad.mit.edu	37	11	66262851	66262851	+	Missense_Mutation	SNP	C	T	T	rs145692426		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:66262851C>T	uc001oig.1	+	13	1530	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	DPP3_uc001oif.1_Missense_Mutation_p.R490W|DPP3_uc010rpe.1_Missense_Mutation_p.R479W|BBS1_uc001oih.1_5'Flank	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	490					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GAGCTGGTATCGGAGCGGGGA	0.622000														12			4		0	0	0.009096	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811688	5811688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:5811688G>A	uc010ndi.3	-	6	2196	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S	NLGN4X_uc004crp.3_Missense_Mutation_p.P561S|NLGN4X_uc010ndh.3_Missense_Mutation_p.P541S|NLGN4X_uc004crq.3_Missense_Mutation_p.P541S|NLGN4X_uc004crr.3_Missense_Mutation_p.P541S|NLGN4X_uc010ndj.3_Missense_Mutation_p.P541S	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	541					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTATCCTGAGGAACTGGTTGA	0.403000														30			25		0	0	0.005443	0	0
C6orf10	10665	broad.mit.edu	37	6	32261093	32261093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:32261093C>T	uc021yvt.1	-	22	1530	c.1357G>A	c.(1357-1359)Gga>Aga	p.G453R	C6orf10_uc011dpx.2_Missense_Mutation_p.G444R|C6orf10_uc021yvs.1_Missense_Mutation_p.G370R|C6orf10_uc011dpz.2_Missense_Mutation_p.G451R|C6orf10_uc021yvu.1_Missense_Mutation_p.G451R|C6orf10_uc021yvv.1_Missense_Mutation_p.G437R	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	453						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						GATTCTGGTCCTTTCAGTACA	0.463000														200			44		0	0	0.013114	0	0
CDH13	1012	broad.mit.edu	37	16	83712035	83712035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:83712035G>A	uc010vns.2	+	10	1912	c.1648G>A	c.(1648-1650)Gac>Aac	p.D550N	CDH13_uc002fgx.3_Missense_Mutation_p.D503N|CDH13_uc010vnt.2_Missense_Mutation_p.D249N|CDH13_uc010vnu.2_Missense_Mutation_p.D464N	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	503	Cadherin 4.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GAATGCCACGGACCCCGACTC	0.602000														10			6		0	0	0.001168	0	0
CHIA	27159	broad.mit.edu	37	1	111857977	111857977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:111857977G>A	uc001eas.3	+	5	557	c.400G>A	c.(400-402)Ggg>Agg	p.G134R	CHIA_uc001ear.3_Missense_Mutation_p.G26R|CHIA_uc001eaq.3_Missense_Mutation_p.G26R|CHIA_uc009wgc.3_Missense_Mutation_p.G26R|CHIA_uc001eat.3_Intron|CHIA_uc001eav.3_5'UTR|CHIA_uc001eau.3_Intron|CHIA_uc009wgd.3_Intron	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	134					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TGAGTTTGACGGGCTGGACTT	0.547000														34			24		0	0	0.004656	0	0
DNAH3	55567	broad.mit.edu	37	16	20994192	20994192	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:20994192C>T	uc010vbe.2	-	48	7710	c.7710G>A	c.(7708-7710)ggG>ggA	p.G2570G	DNAH3_uc010vbd.2_Silent_p.G5G	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2570	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAAGGCATCCCCTATTGGAC	0.522000														33			21		0	0	0.002780	0	0
PRB4	5545	broad.mit.edu	37	12	11461475	11461475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:11461475C>T	uc001qzf.1	-	2	476	c.442G>A	c.(442-444)Gga>Aga	p.G148R	PRB4_uc001qzt.3_Missense_Mutation_p.G148R	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	211	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGGTTACCTCCTTGTGGGGGT	0.607000										HNSCC(22;0.051)				99			64		0	0	0.014410	0	0
RASAL3	64926	broad.mit.edu	37	19	15564263	15564263	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:15564263G>A	uc002nbe.2	-	14	2411	c.2325C>T	c.(2323-2325)ctC>ctT	p.L775L	RASAL3_uc002nbd.3_Silent_p.L115L	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	775					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TGTGCTTGGGGAGGTCCCGGG	0.687000														8			5		0	0	0.000602	0	0
HERC5	51191	broad.mit.edu	37	4	89384699	89384699	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:89384699C>T	uc003hrt.3	+	4	858	c.705C>T	c.(703-705)tcC>tcT	p.S235S		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	235					ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ATGATCCATCCCTTATTGAAG	0.438000														63			9		0	0	0.008291	0	0
NLRP8	126205	broad.mit.edu	37	19	56466505	56466505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:56466505G>A	uc002qmh.3	+	2	1152	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	NLRP8_uc010etg.3_Missense_Mutation_p.E361K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	361	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TAATACGATGGAAAAAATCAA	0.463000														43			18		0	0	0.008871	0	0
INPP5B	3633	broad.mit.edu	37	1	38351420	38351420	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:38351420G>A	uc001ccf.1	-	6	754	c.717C>T	c.(715-717)gcC>gcT	p.A239A	INPP5B_uc009vvk.1_Silent_p.A344A|INPP5B_uc001ccg.1_Silent_p.A403A|INPP5B_uc010oij.1_Intron	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	483					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTCAATGTGGGCTGCCAAGT	0.507000														69			36		0	0	0.004878	0	0
KCTD7	154881	broad.mit.edu	37	7	66104188	66104188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:66104188C>T	uc003tve.3	+	3	1023	c.839C>T	c.(838-840)cCc>cTc	p.P280L	RABGEF1_uc003tvf.3_Intron|KCTD7_uc003tvd.4_Missense_Mutation_p.P280L	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 7 (KCTD7), transcript variant 1, mRNA.	280						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R279H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGCAAGCGCCCCATCTATGAG	0.587000														36			14		0	0	0.001855	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303172	151303172	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:151303172C>T	uc022cgz.1	-	0	921	c.921G>A	c.(919-921)agG>agA	p.R307R	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.R307R|MAGEA10_uc004ffm.2_Silent_p.R307R|MAGEA10_uc004ffl.3_Silent_p.R307R	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	307	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GACTCATCTTCCTAATTTCAG	0.498000														59			40		0	0	0.007835	0	0
OR13G1	441933	broad.mit.edu	37	1	247836167	247836167	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:247836167G>A	uc001idi.1	-	0	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F59L(4)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGTCAGAAGGAAAACATACA	0.418000														23			4		0	0	0.009096	0	0
MECOM	2122	broad.mit.edu	37	3	168833529	168833529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:168833529G>A	uc011bpj.1	-	7	2534	c.2131C>T	c.(2131-2133)Cct>Tct	p.P711S	MECOM_uc010hwk.1_Missense_Mutation_p.P546S|MECOM_uc003ffj.3_Missense_Mutation_p.P588S|MECOM_uc003ffi.3_Missense_Mutation_p.P523S|MECOM_uc011bpi.1_Missense_Mutation_p.P524S|MECOM_uc003ffn.3_Missense_Mutation_p.P523S|MECOM_uc003ffk.2_Missense_Mutation_p.P523S|MECOM_uc003ffl.2_Missense_Mutation_p.P683S|MECOM_uc011bpk.1_Missense_Mutation_p.P523S|MECOM_uc010hwn.2_Missense_Mutation_p.P711S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.M711V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCTCTATCAGGAAATGGGTAC	0.453000														35			7		0	0	0.001984	0	0
PDE4D	5144	broad.mit.edu	37	5	58489357	58489357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:58489357C>T	uc003jsa.2	-	2	825	c.653G>A	c.(652-654)gGa>gAa	p.G218E	PDE4D_uc003jrx.2_Missense_Mutation_p.G82E|PDE4D_uc003jry.3_5'UTR|PDE4D_uc003jrz.3_Missense_Mutation_p.G154E|PDE4D_uc003jsb.3_Missense_Mutation_p.G157E|PDE4D_uc003jsc.3_Missense_Mutation_p.G154E|PDE4D_uc003jrv.2_Missense_Mutation_p.G88E|PDE4D_uc003jrw.2_Missense_Mutation_p.G96E|PDE4D_uc010iwi.1_Missense_Mutation_p.G50E	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	218					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CAAGTCATCTCCGTGTCTGAA	0.398000														16			5		0	0	0.001984	0	0
A2M	2	broad.mit.edu	37	12	9243923	9243923	+	Silent	SNP	A	G	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:9243923A>G	uc001qvk.1	-	18	2456	c.2343T>C	c.(2341-2343)tcT>tcC	p.S781S	A2M_uc009zgk.1_Silent_p.S631S	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	781					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AGGCAGTGGAAGAGATACCAA	0.567000														108			5		0	0	0.003080	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834404	125834404	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:125834404G>A	uc001uhe.1	+	1	467	c.459G>A	c.(457-459)acG>acA	p.T153T	TMEM132B_uc021rgl.1_Silent_p.T43T	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	153						integral to membrane		p.T153T(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTGACCTTACGGAAGATCTAC	0.552000														80			20		0	0	0.008871	0	0
NHS	4810	broad.mit.edu	37	X	17710501	17710501	+	Silent	SNP	C	T	T	rs143119491	byFrequency	TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:17710501C>T	uc011mix.2	+	2	1103	c.765C>T	c.(763-765)ccC>ccT	p.P255P	NHS_uc004cxx.3_Silent_p.P255P|NHS_uc004cxy.3_Silent_p.P78P|NHS_uc004cxz.3_Silent_p.P78P|NHS_uc004cya.3_5'UTR	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	255						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGCTGCCCCCCTTTCCATTG	0.517000														37			15		0	0	0.004007	0	0
CYP2A6	1548	broad.mit.edu	37	19	41350574	41350574	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:41350574T>C	uc002opl.4	-	7	1286	c.1265A>G	c.(1264-1266)cAg>cGg	p.Q422R		NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	422					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CTTCTTAAACTGCCCCTTCTC	0.557000														89			27		0	0	0.004656	0	0
CD4	920	broad.mit.edu	37	12	6925279	6925279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:6925279C>T	uc001qqv.2	+	5	923	c.665C>T	c.(664-666)tCc>tTc	p.S222F	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_3'UTR|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_Missense_Mutation_p.S43F|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	222	Ig-like C2-type 2.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				GTGGAGTTCTCCTTCCCACTC	0.562000														43			28		0	0	0.005443	0	0
LRRC43	254050	broad.mit.edu	37	12	122685332	122685332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:122685332G>A	uc009zxm.3	+	9	1685	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	LRRC43_uc001ubw.4_Missense_Mutation_p.E369K|LRRC43_uc009zxn.3_Missense_Mutation_p.E315K|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	554										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCCGCCCAAGGAGCTCCGGCA	0.672000														53			7		0	0	0.001984	0	0
CCNA1	8900	broad.mit.edu	37	13	37011836	37011836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:37011836C>T	uc001uvr.4	+	2	718	c.368C>T	c.(367-369)cCt>cTt	p.P123L	CCNA1_uc010teo.2_Missense_Mutation_p.P79L|CCNA1_uc010abq.3_Missense_Mutation_p.P79L|CCNA1_uc010abp.3_Missense_Mutation_p.P79L|CCNA1_uc001uvs.4_Missense_Mutation_p.P122L|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	123					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	p.L122L(1)|p.P123>S(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AAAGCACTCCCTGACTGTGGG	0.493000														38			33		0	0	0.010818	0	0
LPHN2	23266	broad.mit.edu	37	1	82409292	82409292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:82409292C>T	uc001dit.4	+	5	1218	c.1037C>T	c.(1036-1038)aCc>aTc	p.T346I	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.T346I|LPHN2_uc001div.3_Missense_Mutation_p.T346I|LPHN2_uc009wcd.3_Missense_Mutation_p.T346I	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	346	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATTTATAATACCCGATTAAAC	0.378000														59			20		0	0	0.010504	0	0
AMBRA1	55626	broad.mit.edu	37	11	46419286	46419286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:46419286G>A	uc001ncv.2	-	19	3934	c.3620C>T	c.(3619-3621)tCc>tTc	p.S1207F	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.S1175F|AMBRA1_uc001ncu.1_Missense_Mutation_p.S1114F|AMBRA1_uc010rgu.1_Missense_Mutation_p.S1204F|AMBRA1_uc001ncw.2_Missense_Mutation_p.S1085F|AMBRA1_uc001ncx.2_Missense_Mutation_p.S1144F	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1204					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTGGGGTGAGGAGGTGTGGGC	0.667000														15			5		0	0	0.001984	0	0
C1orf173	127254	broad.mit.edu	37	1	75038026	75038026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:75038026C>T	uc001dgg.3	-	13	3587	c.3368G>A	c.(3367-3369)gGa>gAa	p.G1123E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1123	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGCATCAGATCCCATTTCATT	0.448000														37			16		0	0	0.003163	0	0
ZNF385B	151126	broad.mit.edu	37	2	180409647	180409647	+	Silent	SNP	G	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:180409647G>T	uc002unn.4	-	3	907	c.303C>A	c.(301-303)acC>acA	p.T101T	ZNF385B_uc002unj.3_5'UTR|ZNF385B_uc002unl.3_5'UTR|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Silent_p.T25T	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	101						nucleus	nucleic acid binding|zinc ion binding	p.P100S(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCATCATCAGGGTAGGTGTGC	0.433000														68			21		1.00905e-13	2.4461e-13	0.008871	1	0
FAM47C	442444	broad.mit.edu	37	X	37027900	37027900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:37027900C>T	uc004ddl.2	+	0	1469	c.1417C>T	c.(1417-1419)Cat>Tat	p.H473Y		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	473										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGGAGTGTCCCATCTCTGCCC	0.637000														15			13		0	0	0.001855	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904193	21904193	+	RNA	SNP	C	G	G	rs9904221	by1000genomes	TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:21904193C>G	uc002gza.2	+	0		c.132C>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		cagcctcaggcctgccaggac	0.672000														19			3		0	0	0.009096	0	0
CNST	163882	broad.mit.edu	37	1	246811154	246811154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:246811154C>T	uc001ibp.3	+	8	2029	c.1651C>T	c.(1651-1653)Ctt>Ttt	p.L551F	CNST_uc001ibo.4_Missense_Mutation_p.L551F	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	551					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TTTGAACAGCCTTTTAGAAGG	0.428000														70			15		0	0	0.004990	0	0
MIR520F	574464	broad.mit.edu	37	19	54185498	54185498	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:54185498G>A	uc021uzp.1	+	1		c.87_splice	c.e1+1		MIR515-1_uc010yea.2_5'Flank					Homo sapiens microRNA 520f (MIR520F), microRNA.																		TACCGTTTGGGAAAAGCAATG	0.443000														22			12		0	0	0.013537	0	0
DGKK	139189	broad.mit.edu	37	X	50129463	50129463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:50129463G>A	uc010njr.2	-	14	2284	c.2240C>T	c.(2239-2241)cCc>cTc	p.P747L		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	747					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGGAATGAAGGGCTTCCTATC	0.473000														28			20		0	0	0.007413	0	0
ERBB4	2066	broad.mit.edu	37	2	212587181	212587181	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:212587181G>A	uc002veg.1	-	6	918	c.820C>T	c.(820-822)Caa>Taa	p.Q274*	ERBB4_uc002veh.1_Nonsense_Mutation_p.Q274*|ERBB4_uc010zji.1_Nonsense_Mutation_p.Q274*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.Q274*|ERBB4_uc010fut.1_Nonsense_Mutation_p.Q274*	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	274	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGCTCCAGTTGAAAGGTGGTT	0.388000										TSP Lung(8;0.080)				18			8		0	0	0.004482	0	0
CELSR3	1951	broad.mit.edu	37	3	48669205	48669205	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:48669205G>A	uc003cuf.1	-	42	10995	c.10995C>T	c.(10993-10995)ccC>ccT	p.P3665P	CELSR3_uc003cug.3_Silent_p.P239P|CELSR3_uc011bbp.2_Silent_p.P224P|CELSR3_uc010hke.3_Silent_p.P111P|CELSR3_uc003cuk.3_Silent_p.P153P|CELSR3_uc003cuh.3_Silent_p.P260P|CELSR3_uc003cui.3_Silent_p.P260P|CELSR3_uc003cuj.3_Silent_p.P260P	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTTGCTCTGGGGCAGCTTCC	0.627000														46			11		0	0	0.010729	0	0
GPR77	27202	broad.mit.edu	37	19	47844445	47844445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:47844445C>T	uc002pgk.1	+	1	460	c.389C>T	c.(388-390)gCc>gTc	p.A130V	GPR77_uc010ela.1_Missense_Mutation_p.A130V|GPR77_uc021uwn.1_Missense_Mutation_p.A130V	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	130					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		GCTCTCAGTGCCGACCTCTGC	0.677000														58			24		0	0	0.003954	0	0
IGSF1	3547	broad.mit.edu	37	X	130416470	130416470	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:130416470C>T	uc004ewe.4	-	6	1477	c.1194G>A	c.(1192-1194)tgG>tgA	p.W398*	IGSF1_uc004ewd.3_Nonsense_Mutation_p.W398*|IGSF1_uc022cdv.1_Nonsense_Mutation_p.W389*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.W378*	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	398	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGGAGGTCTTCCAGGTGAGAA	0.408000														29			23		0	0	0.003330	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202469393	202469393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:202469393C>T	uc002uyf.3	-	1	311	c.259G>A	c.(259-261)Gat>Aat	p.D87N	ALS2CR11_uc002uye.3_Missense_Mutation_p.D87N|ALS2CR11_uc010fti.3_Missense_Mutation_p.D87N|ALS2CR11_uc021vvc.1_Missense_Mutation_p.D87N	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	87										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TCTTCACTATCAGACTCTTTA	0.328000														66			13		0	0	0.002450	0	0
RGPD4	285190	broad.mit.edu	37	2	108488640	108488640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:108488640C>T	uc010ywk.2	+	19	4262	c.4180C>T	c.(4180-4182)Cgt>Tgt	p.R1394C	RGPD4_uc002tdu.3_Missense_Mutation_p.R581C|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1394	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TAAGCAAGTTCGTATAGTGAT	0.358000														141			33		0	0	0.006999	0	0
FAM134A	79137	broad.mit.edu	37	2	220047114	220047114	+	Silent	SNP	C	T	T	rs139810951		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:220047114C>T	uc002vjw.4	+	8	1531	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S	FAM134A_uc010fwc.3_Silent_p.S258S|FAM134A_uc002vjx.3_Intron	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	465						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCCCCTTCCATTCTCCCAC	0.627000														50			12		0	0	0.003163	0	0
MAP2K3	5606	broad.mit.edu	37	17	21215555	21215556	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:21215555_21215556CC>TT	uc002gys.3	+	9	1141_1142	c.876_877CC>TT	c.(874-879)gaccgt>gaTTgt	p.R293C	MAP2K3_uc002gyt.3_Missense_Mutation_p.R264C|MAP2K3_uc021tsq.1_Missense_Mutation_p.R264C|MAP2K3_uc021tsr.1_Missense_Mutation_p.R264C	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	293	Protein kinase.		R -> H (in dbSNP:rs35206134).		MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TCCCAGCCGACCGTTTCTCCCC	0.644000														15			6		0	0	0.004672	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904810	73904811	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:73904810_73904811GG>AA	uc011dyh.2	+	14	2876_2877	c.2529_2530GG>AA	c.(2527-2532)aaggac>aaAAac	p.D844N	KCNQ5_uc011dyi.2_Missense_Mutation_p.D835N|KCNQ5_uc010kat.3_Missense_Mutation_p.D816N|KCNQ5_uc003pgk.3_Missense_Mutation_p.D825N|KCNQ5_uc011dyj.2_Missense_Mutation_p.D715N|KCNQ5_uc011dyk.2_Missense_Mutation_p.D575N	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	825					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGGTGCCGAAGGACTTGGGCAA	0.490000														29			22		0	0	0.004672	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964105	7964105	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:7964105C>A	uc002mir.3	+	2	799	c.698C>A	c.(697-699)gCc>gAc	p.A233D		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	233						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CAAGCCAAAGCCCTGTTTGAG	0.547000														26			8		0.000157383	0.000378831	0.003080	1	0
MYH8	4626	broad.mit.edu	37	17	10312747	10312747	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:10312747C>T	uc002gmm.2	-	15	1841	c.1746G>A	c.(1744-1746)ctG>ctA	p.L582L	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	582	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATAGTGAATCAGAGAGAAGT	0.517000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					38			48		0	0	0.014410	0	0
KPTN	11133	broad.mit.edu	37	19	47986621	47986621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:47986621C>T	uc002pgy.3	-	2	429	c.325G>A	c.(325-327)Ggc>Agc	p.G109S	KPTN_uc010xys.2_Non-coding_Transcript|LOC100505681_uc021uwo.1_5'Flank	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	Homo sapiens kaptin (actin binding protein) (KPTN), mRNA.	109					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		AAGGGGCTGCCCTTGTCCCCT	0.622000											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			7		0	0	0.003080	0	0
SAMD9	54809	broad.mit.edu	37	7	92734749	92734749	+	Missense_Mutation	SNP	C	G	G	rs148603551		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:92734749C>G	uc003umf.3	-	2	932	c.662G>C	c.(661-663)cGa>cCa	p.R221P	SAMD9_uc003umg.3_Missense_Mutation_p.R221P|SAMD9_uc022ahg.1_Missense_Mutation_p.R221P	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	221						cytoplasm		p.R221L(2)|p.R221*(2)|p.R221R(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAAGCAAATCGGAAAACCTC	0.398000														105			11		0	0	0.010729	0	0
LY6H	4062	broad.mit.edu	37	8	144239719	144239719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:144239719G>A	uc003yxt.3	-	2	1232	c.485C>T	c.(484-486)gCc>gTc	p.A162V	LY6H_uc011lka.2_Missense_Mutation_p.A124V|LY6H_uc011lkb.2_Missense_Mutation_p.A145V|LY6H_uc011lkc.2_Missense_Mutation_p.A145V			O94772	LY6H_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus H (LY6H), transcript variant 3, mRNA.	124					nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAGCCCCCCGGCCAGGGCCCA	0.652000														20			12		0	0	0.013537	0	0
PSG7	5676	broad.mit.edu	37	19	43441196	43441196	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:43441196C>T	uc002ovl.4	-	0	135	c.33G>A	c.(31-33)caG>caA	p.Q11Q	PSG3_uc002ouf.3_5'Flank|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.Q11Q	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	11					female pregnancy	extracellular region							Prostate(69;0.00682)				AGGTTATATGCTGTGTGCAGG	0.572000														47			27		0	0	0.013726	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524938	10524938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:10524938C>T	uc002czw.3	+	1	620	c.461C>T	c.(460-462)tCc>tTc	p.S154F	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.S154F|ATF7IP2_uc002czv.3_Missense_Mutation_p.S154F|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						GTAACAAGATCCCTTTTTGAG	0.448000														49			14		0	0	0.002450	0	0
NEUROD1	4760	broad.mit.edu	37	2	182542991	182542991	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:182542991C>T	uc021vto.1	-	0	597	c.597G>A	c.(595-597)caG>caA	p.Q199Q	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Silent_p.Q199Q|NEUROD1_uc021vtn.1_Silent_p.Q199Q	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	199					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGTCCTGGTTCTGCTCAGGCA	0.612000											OREG0005603	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NEUROD1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		172			40		0	0	0.011902	0	0
AK302879	0	broad.mit.edu	37	15	76074470	76074470	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr15:76074470A>G	uc010umm.1	+	7	649	c.572A>G	c.(571-573)cAg>cGg	p.Q191R	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;									p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000														14			4		0	0	0.000602	0	0
PLXNA4	91584	broad.mit.edu	37	7	131913184	131913184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:131913184C>T	uc003vra.4	-	5	1878	c.1649G>A	c.(1648-1650)aGg>aAg	p.R550K		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	550	PSI 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGAGGCAAACCTGCGGGGCTC	0.607000														34			8		0	0	0.003080	0	0
SHROOM4	57477	broad.mit.edu	37	X	50351041	50351041	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:50351041G>A	uc004dpe.2	-	5	3127	c.3101C>T	c.(3100-3102)tCa>tTa	p.S1034L	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1034					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGTTTCCTCTGATTTTTTCAA	0.522000														11			13		0	0	0.013537	0	0
DNAH3	55567	broad.mit.edu	37	16	20996554	20996554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:20996554C>T	uc010vbe.2	-	47	7510	c.7510G>A	c.(7510-7512)Gac>Aac	p.D2504N	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2504	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATGTTGATGTCCTCCACGAAT	0.517000														29			17		0	0	0.006122	0	0
OR4M1	441670	broad.mit.edu	37	14	20249141	20249141	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:20249141C>T	uc010tku.2	+	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTATGCCTTCCTTCTGGCCT	0.473000														73			37		0	0	0.008740	0	0
ZNF562	54811	broad.mit.edu	37	19	9764378	9764378	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9764378G>A	uc002mly.3	-	5	744	c.528C>T	c.(526-528)tcC>tcT	p.S176S	ZNF562_uc010xks.2_Silent_p.S176S|ZNF562_uc002mlx.3_Silent_p.S104S|ZNF562_uc010xkt.2_Silent_p.S139S|ZNF562_uc010xku.2_Silent_p.S107S|ZNF562_uc010xkv.1_Silent_p.S175S|ZNF562_uc010xkw.1_Silent_p.S60S	NM_001130031	NP_001123504	Q6V9R5	ZN562_HUMAN	Homo sapiens zinc finger protein 562 (ZNF562), transcript variant 1, mRNA.	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						GATTAAATTTGGAAAGTTCTT	0.413000														57			5		0	0	0.001168	0	0
FAM55D	54827	broad.mit.edu	37	11	114453715	114453715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:114453715G>A	uc001ppc.3	-	2	306	c.125C>T	c.(124-126)tCc>tTc	p.S42F	FAM55D_uc001ppd.3_5'UTR	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	42						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		GTAATGGAGGGAGATGGATAA	0.383000														78			16		0	0	0.004990	0	0
C10orf27	219793	broad.mit.edu	37	10	72537079	72537079	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:72537079C>T	uc010qjm.1	-	6	913	c.523G>A	c.(523-525)Gag>Aag	p.E175K	C10orf27_uc001jrj.1_Missense_Mutation_p.E174K|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Missense_Mutation_p.E173K|C10orf27_uc009xqi.1_Non-coding_Transcript|C10orf27_uc010qjo.1_Missense_Mutation_p.E194K	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	174					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						AGAGGCTCCTCCTTCTGCTCC	0.657000														13			14		0	0	0.004007	0	0
C1orf173	127254	broad.mit.edu	37	1	75037958	75037958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:75037958C>T	uc001dgg.3	-	13	3655	c.3436G>A	c.(3436-3438)Gaa>Aaa	p.E1146K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1146	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGTGAATCTTCTCCTAGAAGC	0.468000														38			17		0	0	0.004990	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573667	140573667	+	Silent	SNP	C	T	T	rs17844573		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:140573667C>T	uc003lix.3	+	0	1716	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	514	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCTGTTCGCCCTCAGGT	0.701000														96			14		0	0	0.010504	0	0
UTP6	55813	broad.mit.edu	37	17	30207772	30207772	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:30207772G>A	uc002hgr.3	-	11	869	c.786_splice	c.e11-1	p.D262_splice	UTP6_uc002hgq.3_Splice_Site_p.D78_splice|UTP6_uc010wbw.1_Splice_Site_p.D262_splice	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	Homo sapiens UTP6, small subunit (SSU) processome component, homolog (yeast) (UTP6), mRNA.	262					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGAGCCTGAAGGCTGAAAAAT	0.403000														53			8		0	0	0.004482	0	0
MARCH10	162333	broad.mit.edu	37	17	60802403	60802403	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:60802403C>A	uc010dds.3	-	7	2399	c.2114G>T	c.(2113-2115)gGt>gTt	p.G705V	MARCH10_uc010ddr.3_Missense_Mutation_p.G667V|MARCH10_uc002jag.4_Missense_Mutation_p.G667V|MARCH10_uc002jah.2_Missense_Mutation_p.G666V|BC037347_uc002jaj.1_Intron|BC037347_uc002jak.3_Intron	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	667							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCTTGGGGAACCCCCGGCTAT	0.542000														27			20		2.89027e-11	6.98994e-11	0.014323	1	0
TMEM168	64418	broad.mit.edu	37	7	112424596	112424596	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:112424596G>A	uc003vgn.3	-	1	677	c.285C>T	c.(283-285)tcC>tcT	p.S95S	TMEM168_uc010lju.3_Silent_p.S95S|TMEM168_uc011kmr.2_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	Homo sapiens transmembrane protein 168 (TMEM168), mRNA.	95						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ACCAAAGATTGGAGAGACTTA	0.318000														39			19		0	0	0.012319	0	0
IFNA16	3449	broad.mit.edu	37	9	21217122	21217122	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr9:21217122G>A	uc003zor.1	-	0	189	c.183C>T	c.(181-183)ttC>ttT	p.F61F	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	61					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.G60E(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCTCCTGGGGGAATCCGAAAT	0.498000														42			29		0	0	0.013726	0	0
HLTF	6596	broad.mit.edu	37	3	148793736	148793736	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:148793736G>A	uc003ewq.1	-	2	545	c.327C>T	c.(325-327)ggC>ggT	p.G109G	HLTF_uc003ewr.1_Silent_p.G109G|HLTF_uc003ews.1_Silent_p.G109G|HLTF_uc010hve.1_Silent_p.G109G	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	109					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCTTTAAATGGCCAACTTGAT	0.318000														20			18		0	0	0.004990	0	0
UNC79	57578	broad.mit.edu	37	14	94079186	94079186	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:94079186C>T	uc001ybv.1	+	24	3416	c.3333C>T	c.(3331-3333)ctC>ctT	p.L1111L	UNC79_uc001ybs.1_Silent_p.L1089L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1266						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGGACCTGCTCCCAGAAGACG	0.502000														46			4		0	0	0.009096	0	0
RP1	6101	broad.mit.edu	37	8	55539179	55539179	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:55539179C>T	uc003xsd.1	+	3	2885	c.2737C>T	c.(2737-2739)Caa>Taa	p.Q913*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	913					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCATTCAATTCAAAATTATAT	0.333000														37			13		0	0	0.003163	0	0
CCDC102B	79839	broad.mit.edu	37	18	66721290	66721290	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr18:66721290C>T	uc002lkk.2	+	9	1681	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	CCDC102B_uc002lki.2_Silent_p.I486I	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	486										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGAATCAGATCCGTAAGCTCC	0.363000														47			15		0	0	0.004007	0	0
VN1R10P	387316	broad.mit.edu	37	6	27293089	27293089	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:27293089A>T	uc010jqt.3	+	0	550	c.28A>T	c.(28-30)Acc>Tcc	p.T10S		NM_032030	NP_114419			SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b;																		CACCGTAGCCACCAGCAAATC	0.358000														105			74		0	0	0.014410	0	0
G6PD	2539	broad.mit.edu	37	X	153760655	153760655	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:153760655T>A	uc004fly.1	-	10	1423	c.1310A>T	c.(1309-1311)tAc>tTc	p.Y437F	G6PD_uc004flx.1_Missense_Mutation_p.Y467F	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	437					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGGCGCTCGTAGGCGTCAGG	0.662000														14			12		0	0	0.010729	0	0
LRAT	9227	broad.mit.edu	37	4	155665867	155665867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:155665867C>T	uc003iom.1	+	0	716	c.389C>T	c.(388-390)tCc>tTc	p.S130F	DQ266889_uc003iol.3_Intron|LRAT_uc003ion.1_Missense_Mutation_p.S130F	NM_004744	NP_004735	O95237	LRAT_HUMAN	Homo sapiens lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) (LRAT), mRNA.	130					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CTGGACGAGTCCCTCCAGAAA	0.582000														28			7		0	0	0.004482	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265799	3265799	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:3265799C>T	uc010uwv.2	+	0	238	c.90C>T	c.(88-90)ctC>ctT	p.L30L						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		ACTTCTTCCTCAGCAACATGT	0.542000														27			8		0	0	0.006214	0	0
PKD1L2	114780	broad.mit.edu	37	16	81167204	81167204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:81167204C>T	uc002fgh.1	-	34	5818	c.5818G>A	c.(5818-5820)Gaa>Aaa	p.E1940K	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1941					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCTTTCTGTTCCTTGAGGTGG	0.542000														16			9		0	0	0.004482	0	0
MUT	4594	broad.mit.edu	37	6	49408038	49408038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:49408038G>A	uc003ozg.4	-	10	2102	c.1837C>T	c.(1837-1839)Cgc>Tgc	p.R613C		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	613					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	p.G612S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGAGGTCTGCGACCTTCACGT	0.353000														65			18		0	0	0.007413	0	0
TMEM74B	55321	broad.mit.edu	37	20	1162129	1162129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:1162129C>T	uc002weq.1	-	1	806	c.134G>A	c.(133-135)aGa>aAa	p.R45K	TMEM74B_uc010gaa.1_Missense_Mutation_p.R45K	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	Homo sapiens transmembrane protein 74B (TMEM74B), mRNA.	45						integral to membrane	protein binding										GGGAGCTGATCTCCTTGGGGC	0.617000														25			13		0	0	0.002450	0	0
CACNA1C	775	broad.mit.edu	37	12	2721143	2721143	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:2721143G>A	uc009zdu.1	+	29	4165	c.3852G>A	c.(3850-3852)gtG>gtA	p.V1284V	CACNA1C_uc001qkc.2_Silent_p.V1264V|CACNA1C_uc001qjz.2_Silent_p.V1264V|CACNA1C_uc001qkd.2_Silent_p.V1264V|CACNA1C_uc001qke.2_Silent_p.V1264V|CACNA1C_uc001qkf.2_Silent_p.V1264V|CACNA1C_uc009zdw.1_Silent_p.V1264V|CACNA1C_uc001qkg.2_Silent_p.V1264V|CACNA1C_uc001qkh.2_Silent_p.V1264V|CACNA1C_uc001qkl.2_Silent_p.V1284V|CACNA1C_uc001qkj.2_Silent_p.V1264V|CACNA1C_uc001qkk.2_Silent_p.V1264V|CACNA1C_uc001qkn.2_Silent_p.V1264V|CACNA1C_uc001qkm.2_Silent_p.V1264V|CACNA1C_uc001qko.2_Silent_p.V1284V|CACNA1C_uc001qkp.2_Silent_p.V1264V|CACNA1C_uc001qkq.2_Silent_p.V1264V|CACNA1C_uc001qku.2_Silent_p.V1264V|CACNA1C_uc001qkr.2_Silent_p.V1264V|CACNA1C_uc001qks.2_Silent_p.V1264V|CACNA1C_uc001qkt.2_Silent_p.V1264V|CACNA1C_uc009zdv.1_Silent_p.V1261V|CACNA1C_uc001qkb.2_Silent_p.V1264V|CACNA1C_uc001qka.1_Silent_p.V799V|CACNA1C_uc001qki.1_Silent_p.V1000V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1284					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCTTCACCGTGGAGATGATCC	0.552000														18			5		0	0	0.001984	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028181	170028181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:170028181G>A	uc003isa.1	-	10	2650	c.2315C>T	c.(2314-2316)tCc>tTc	p.S772F		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	772						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CACAGGGCAGGAGCCTGCCCT	0.662000														27			4		0	0	0.009096	0	0
ARID2	196528	broad.mit.edu	37	12	46230641	46230641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:46230641C>T	uc001ros.1	+	7	890	c.890C>T	c.(889-891)tCc>tTc	p.S297F	ARID2_uc001ror.3_Missense_Mutation_p.S297F|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	297					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAAATCTTTCCTTTGAGGAG	0.398000			"""N, S, F"""		hepatocellular carcinoma									26			23		0	0	0.003954	0	0
CDCA2	157313	broad.mit.edu	37	8	25340941	25340941	+	Silent	SNP	T	C	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:25340941T>C	uc003xep.1	+	8	1536	c.1059T>C	c.(1057-1059)gaT>gaC	p.D353D	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Silent_p.D353D|CDCA2_uc003xeq.1_Silent_p.D338D|CDCA2_uc003xer.1_Silent_p.D16D	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	353					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TCTATGATGATGATGGGACTC	0.328000														16			22		0	0	0.002780	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83400549	83400549	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:83400549C>T	uc004eej.2	-	5	474	c.438G>A	c.(436-438)ggG>ggA	p.G146G	RPS6KA6_uc011mqt.2_Silent_p.G146G|RPS6KA6_uc011mqu.2_Silent_p.G43G|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	146	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AGTACAGTTTCCCTTCAGTCT	0.289000														13			4		0	0	0.000602	0	0
USP35	57558	broad.mit.edu	37	11	77920580	77920580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:77920580C>T	uc021qny.1	+	9	2035	c.1679C>T	c.(1678-1680)gCc>gTc	p.A560V	USP35_uc001oze.2_Missense_Mutation_p.A316V|USP35_uc001ozc.3_Missense_Mutation_p.A128V|USP35_uc010rsp.2_5'UTR|USP35_uc001ozd.3_Missense_Mutation_p.A171V|USP35_uc001ozf.3_Missense_Mutation_p.A291V	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	560					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GAGCCCCCGGCCCCAAGTTCA	0.597000														14			14		0	0	0.002450	0	0
MOG	4340	broad.mit.edu	37	6	29627428	29627428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:29627428G>A	uc003nnf.3	+	1	650	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	MOG_uc003qzk.2_Missense_Mutation_p.E141K|MOG_uc010kle.2_Intron|MOG_uc010klf.2_Intron|MOG_uc003nmy.2_Missense_Mutation_p.E141K|MOG_uc003nna.3_Intron|MOG_uc011dlt.2_Missense_Mutation_p.E71K|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Missense_Mutation_p.E141K|MOG_uc003nng.3_Missense_Mutation_p.E141K|MOG_uc003nni.3_Missense_Mutation_p.E141K|MOG_uc003nnh.3_Missense_Mutation_p.E141K|MOG_uc003nnj.3_Missense_Mutation_p.E141K|MOG_uc003nnk.3_Missense_Mutation_p.E141K	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	141	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.E141K(2)|p.E141A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGCAGCAATGGAATTGAAAGT	0.438000														16			8		0	0	0.003080	0	0
SERINC3	10955	broad.mit.edu	37	20	43139984	43139985	+	Missense_Mutation	DNP	GG	AA	AA	rs11559232		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:43139984_43139985GG>AA	uc002xme.3	-	3	554_555	c.420_421CC>TT	c.(418-423)gccctt>gcTTtt	p.L141F	SERINC3_uc002xmf.1_Missense_Mutation_p.L141F|SERINC3_uc010ggs.1_Missense_Mutation_p.L134F|SERINC3_uc010zwp.1_Missense_Mutation_p.L86F	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Homo sapiens serine incorporator 3 (SERINC3), transcript variant 2, mRNA.	141						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ATTCCAATAAGGGCAGCAATTT	0.351000														32			9		0	0	0.004672	0	0
DSG2	1829	broad.mit.edu	37	18	29101112	29101112	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr18:29101112A>C	uc002kwu.4	+	4	617	c.429A>C	c.(427-429)ttA>ttC	p.L143F		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	143	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGAAACCCTTAGAGCTACGCA	0.378000														38			6		0	0	0.001168	0	0
FILIP1L	11259	broad.mit.edu	37	3	99643115	99643115	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:99643115C>T	uc003dtm.3	-	3	1027	c.564G>A	c.(562-564)aaG>aaA	p.K188K	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Silent_p.K188K	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	188						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						ATTCATCACTCTTCTCCATGT	0.428000														81			7		0	0	0.001984	0	0
SLC44A3	126969	broad.mit.edu	37	1	95310896	95310896	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:95310896C>T	uc001dqv.4	+	8	1055	c.948C>T	c.(946-948)ttC>ttT	p.F316F	SLC44A3_uc001dqx.4_Silent_p.F316F|SLC44A3_uc010otq.2_Silent_p.F248F|SLC44A3_uc010otr.2_Silent_p.F280F|SLC44A3_uc001dqw.4_Silent_p.F268F|SLC44A3_uc010ots.2_Silent_p.F236F|SLC44A3_uc009wds.3_Silent_p.F219F|SLC44A3_uc010ott.2_Silent_p.F236F|SLC44A3_uc010otu.1_Non-coding_Transcript	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	316						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TTGAGCTTTTCCAAATCACAA	0.438000														51			20		0	0	0.008871	0	0
MYOZ2	51778	broad.mit.edu	37	4	120079242	120079242	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:120079242C>T	uc003icp.4	+	3	525	c.312C>T	c.(310-312)gcC>gcT	p.A104A		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	104							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CGCAGCAAGCCCCCTTGACTC	0.453000														69			23		0	0	0.003330	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679199	37679199	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:37679199C>T	uc001uwm.1	-	0	603	c.195G>A	c.(193-195)acG>acA	p.T65T		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	65	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.T65T(2)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CTTGAAGAATCGTGTAGAGTT	0.532000														65			16		0	0	0.006122	0	0
NFKBID	84807	broad.mit.edu	37	19	36387124	36387124	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:36387124G>A	uc002oci.1	-	7	1027	c.453C>T	c.(451-453)ttC>ttT	p.F151F	NFKBID_uc002och.1_5'UTR	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta (NFKBID), mRNA.	151					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						ACTTACCCTCGAAGTCTCTGG	0.617000														48			21		0	0	0.002780	0	0
UTP14C	9724	broad.mit.edu	37	13	52604412	52604413	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:52604412_52604413CC>TT	uc001vgb.3	+	1	2034_2035	c.1472_1473CC>TT	c.(1471-1473)gcc>gTT	p.A491V	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Missense_Mutation_p.A491V	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	491					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GAGGAACCTGCCCCAGAAGAAG	0.465000														104			28		0	0	0.004672	0	0
FMN2	56776	broad.mit.edu	37	1	240370323	240370323	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:240370323G>A	uc010pye.2	+	5	2448	c.2223G>A	c.(2221-2223)agG>agA	p.R741R	FMN2_uc010pyd.2_Silent_p.R737R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	737					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGCATCATAGGATTTTAGAGG	0.567000														20			6		0	0	0.001984	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657681	72657681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:72657681G>A	uc003txs.1	-	12	2231	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		gcgattttgggaatgtagttc	0.483000														79			44		0	0	0.014410	0	0
OR9A4	130075	broad.mit.edu	37	7	141619403	141619403	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:141619403C>T	uc003vwu.1	+	0	728	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ACTTGTGCCTCCCACTTCACC	0.502000														59			20		0	0	0.012319	0	0
CD1E	913	broad.mit.edu	37	1	158323823	158323823	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:158323823G>A	uc001fse.3	+	0	338	c.45G>A	c.(43-45)ggG>ggA	p.G15G	CD1E_uc010pid.2_Intron|CD1E_uc010pie.2_Silent_p.G15G|CD1E_uc001fsh.3_Silent_p.G15G|CD1E_uc001fry.3_Silent_p.G15G|CD1E_uc001fsf.3_Silent_p.G15G|CD1E_uc001fsg.3_Silent_p.G15G|CD1E_uc009wsv.3_Silent_p.G15G|CD1E_uc001fsj.3_Silent_p.G15G|CD1E_uc001fsk.3_Silent_p.G15G|CD1E_uc001fsa.3_Silent_p.G15G|CD1E_uc001fsd.3_Silent_p.G15G|CD1E_uc001frz.3_Silent_p.G15G|CD1E_uc010pig.2_Silent_p.G15G|CD1E_uc001fsc.3_Silent_p.G15G|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	15			G -> E (in dbSNP:rs3180089).		antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCTGTCCTGGGGAAAATACAG	0.542000														26			11		0	0	0.002450	0	0
CLRN1	7401	broad.mit.edu	37	3	150645783	150645783	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:150645783G>A	uc021xfs.1	-	3	969	c.678C>T	c.(676-678)ttC>ttT	p.F226F	CLRN1-AS1_uc011bny.1_Intron|CLRN1_uc021xfq.1_Intron|CLRN1_uc021xfr.1_Intron|CLRN1_uc003eyj.3_Intron|CLRN1_uc003eyk.1_Silent_p.F213F	NM_001195794	NP_001182723	P58418	CLRN1_HUMAN	Homo sapiens clarin 1 (CLRN1), transcript variant 5, mRNA.	213					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTGCAAAAGGGAACTGAAATC	0.368000														51			11		0	0	0.008291	0	0
STXBP5L	9515	broad.mit.edu	37	3	120952497	120952497	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:120952497G>A	uc003eec.4	+	11	1286	c.1146G>A	c.(1144-1146)ctG>ctA	p.L382L	STXBP5L_uc011bji.2_Silent_p.L382L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	382					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGGTACTTCTGGAGAAAGATC	0.284000														18			5		0	0	0.001984	0	0
APOF	319	broad.mit.edu	37	12	56755494	56755494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:56755494G>A	uc001sle.1	-	1	550	c.496C>T	c.(496-498)Ctc>Ttc	p.L166F		NM_001638	NP_001629	Q13790	APOF_HUMAN	Homo sapiens apolipoprotein F (APOF), mRNA.	166					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						TCTGTCGGGAGGGAGCGCCCG	0.582000														5			3		0	0	0.004672	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751506	140751506	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:140751506C>T	uc003ljw.2	+	0	1545	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	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_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.F515F|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	517	Cadherin 5.				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)			GGGTGGTGTTCGCGCAGCGAG	0.672000														27			10		0	0	0.006214	0	0
TAS1R2	80834	broad.mit.edu	37	1	19184070	19184070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:19184070C>T	uc001bba.1	-	1	239	c.238G>A	c.(238-240)Gag>Aag	p.E80K		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	80					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TTGATCTCCTCCACCGCAAAG	0.542000														26			17		0	0	0.007413	0	0
RIMS2	9699	broad.mit.edu	37	8	104922429	104922429	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:104922429G>A	uc003yls.3	+	3	1267	c.1026_splice	c.e3+1	p.L342_splice	RIMS2_uc003ylp.3_Splice_Site_p.L564_splice|RIMS2_uc003ylw.2_Splice_Site_p.L372_splice|RIMS2_uc003ylq.3_Splice_Site_p.L372_splice|RIMS2_uc003ylr.3_Intron|RIMS2_uc003ylt.3_5'Flank	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	642					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAATGTCTTTGGTGAGACATG	0.368000										HNSCC(12;0.0054)				58			23		0	0	0.014323	0	0
MIXL1	83881	broad.mit.edu	37	1	226413370	226413370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:226413370G>A	uc010pvm.2	+	1	556	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K		NM_031944	NP_114150	Q9H2W2	MIXL1_HUMAN	Homo sapiens Mix paired-like homeobox (MIXL1), mRNA.	186					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		CTGCCTGCCCGAACCAAACGG	0.527000														39			8		0	0	0.003080	0	0
PCLO	27445	broad.mit.edu	37	7	82546172	82546172	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:82546172G>A	uc003uhx.2	-	6	11419	c.11130C>T	c.(11128-11130)acC>acT	p.T3710T	PCLO_uc003uhv.2_Silent_p.T3710T|PCLO_uc010lec.3_Silent_p.T675T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3641					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGATGTCATGGTTTGAGAAC	0.333000														67			39		0	0	0.009718	0	0
PARM1	25849	broad.mit.edu	37	4	75937662	75937662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:75937662C>T	uc003hih.2	+	1	324	c.71C>T	c.(70-72)tCa>tTa	p.S24L		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	24					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CTGCCTACATCAGCTCCTTTG	0.463000														26			24		0	0	0.005443	0	0
FAM170A	340069	broad.mit.edu	37	5	118969690	118969690	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:118969690C>T	uc003ksm.2	+	2	457	c.247C>T	c.(247-249)Caa>Taa	p.Q83*	FAM170A_uc003ksl.2_Nonsense_Mutation_p.Q83*|FAM170A_uc003ksn.3_Nonsense_Mutation_p.Q83*|FAM170A_uc003kso.3_Nonsense_Mutation_p.Q36*	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	83						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CCCCCAGCCTCAATCACCCCT	0.522000														21			12		0	0	0.010729	0	0
ZNF560	147741	broad.mit.edu	37	19	9578502	9578502	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9578502T>C	uc002mlp.1	-	9	1331	c.1121A>G	c.(1120-1122)aAa>aGa	p.K374R	ZNF560_uc010dwr.1_Missense_Mutation_p.K268R	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTTATAAGGTTTTATCCCAAT	0.403000														46			14		0	0	0.004990	0	0
RBPJL	11317	broad.mit.edu	37	20	43945438	43945438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:43945438C>T	uc002xns.3	+	11	1465	c.1393C>T	c.(1393-1395)Ctc>Ttc	p.L465F	RBPJL_uc002xnt.3_Missense_Mutation_p.A468V	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	465	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CGCCGACGGGCTCTTCTACCC	0.706000														36			6		0	0	0.001168	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671662	31671662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:31671662C>T	uc010zue.2	+	2	674	c.659C>T	c.(658-660)aCt>aTt	p.T220I		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	220	Gly-rich.					cytoplasm|extracellular region	lipid binding										ATCCTCAGCACTGTGCAAGGC	0.637000														34			14		0	0	0.004990	0	0
ZNF185	7739	broad.mit.edu	37	X	152100264	152100265	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:152100264_152100265CC>TT	uc011myg.2	+	12	1011_1012	c.963_964CC>TT	c.(961-966)ctccag>ctTTag	p.Q322*	ZNF185_uc011myi.2_Nonsense_Mutation_p.Q293*|ZNF185_uc011myj.2_Nonsense_Mutation_p.Q263*|ZNF185_uc011myh.2_Nonsense_Mutation_p.Q293*|ZNF185_uc011myk.2_Nonsense_Mutation_p.Q323*|ZNF185_uc010ntv.2_Nonsense_Mutation_p.Q322*|ZNF185_uc004fgw.4_Nonsense_Mutation_p.Q101*|ZNF185_uc004fgu.3_Intron|ZNF185_uc004fgv.3_Nonsense_Mutation_p.Q19*	NM_001178106	NP_001171577	O15231	ZN185_HUMAN	Homo sapiens zinc finger protein 185 (LIM domain) (ZNF185), transcript variant 1, mRNA.	322						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGAGAGCTCCAGAGGGACTT	0.550000														12			7		0	0	0.004672	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64511204	64511204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:64511204C>T	uc003jtp.3	-	18	3197	c.2383G>A	c.(2383-2385)Gaa>Aaa	p.E795K	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.E416K	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	795	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GATTCTGGTTCATCAGTTGGT	0.408000														35			18		0	0	0.007413	0	0
TCR-alpha	0	broad.mit.edu	37	14	22433746	22433746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:22433746C>T	uc021rpm.1	+	0	49	c.11C>T	c.(10-12)tCc>tTc	p.S4F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron					SubName: Full=V-alpha; Flags: Fragment;																		ATGATGAAATCCTTGAGAGTT	0.348000														34			12		0	0	0.006122	0	0
GH2	2689	broad.mit.edu	37	17	61958457	61958457	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:61958457G>A	uc002jcl.1	-	2	285	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	GH2_uc002jcn.1_Nonsense_Mutation_p.Q60*|GH2_uc002jco.1_Nonsense_Mutation_p.Q75*|GH2_uc002jcm.1_Nonsense_Mutation_p.Q75*	NM_022557	NP_072051	P01242	SOM2_HUMAN	Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.	75						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						AGGGAGGTCTGGGGGTTCTGC	0.532000														170			13		0	0	0.003163	0	0
GPR98	84059	broad.mit.edu	37	5	89990343	89990343	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:89990343C>T	uc003kju.3	+	32	7866	c.7770C>T	c.(7768-7770)tcC>tcT	p.S2590S	GPR98_uc003kjt.3_Silent_p.S296S|GPR98_uc003kjv.3_Silent_p.S190S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2590					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAATACTTCCGAAGATGGCT	0.453000														160			16		0	0	0.004007	0	0
RLF	6018	broad.mit.edu	37	1	40703534	40703534	+	Missense_Mutation	SNP	C	T	T	rs142953276		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:40703534C>T	uc001cfc.4	+	7	3191	c.3160C>T	c.(3160-3162)Ccc>Tcc	p.P1054S	RLF_uc001cfd.4_Missense_Mutation_p.P745S	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	1054					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTCTAAAAGGCCCTGTACAGA	0.398000														39			9		0	0	0.008291	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813728	100813728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:100813728G>A	uc010svi.2	+	11	1874	c.1561G>A	c.(1561-1563)Gga>Aga	p.G521R	SLC17A8_uc009ztx.3_Missense_Mutation_p.G471R	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	521					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GGAGAAATGTGGAATCATTGA	0.483000														24			17		0	0	0.004990	0	0
ODZ2	57451	broad.mit.edu	37	5	167631411	167631411	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:167631411C>T	uc010jjd.3	+	18	3582	c.3582C>T	c.(3580-3582)ttC>ttT	p.F1194F	ODZ2_uc003lzr.4_Silent_p.F971F|ODZ2_uc003lzt.4_Silent_p.F567F|ODZ2_uc010jje.3_Silent_p.F465F	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AAAACCAGTTCCTGACCCAGC	0.572000														8			7		0	0	0.001984	0	0
BOD1L1	259282	broad.mit.edu	37	4	13616102	13616102	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:13616102T>A	uc003gmz.1	-	3	1009	c.892A>T	c.(892-894)Aat>Tat	p.N298Y	BOD1L1_uc010idr.1_5'UTR|BOD1L1_uc010ids.1_Non-coding_Transcript	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	298							DNA binding										ATTAAATTATTATGCTCTTTT	0.393000														26			12		0	0	0.001855	0	0
SLC30A10	55532	broad.mit.edu	37	1	220100441	220100441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:220100441G>A	uc001hlw.3	-	1	858	c.647C>T	c.(646-648)tCc>tTc	p.S216F	RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Non-coding_Transcript|SLC30A10_uc001hlx.3_5'UTR	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA.	216					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GGTGTTGAAGGAATCACCTGC	0.333000														37			9		0	0	0.006214	0	0
TMC7	79905	broad.mit.edu	37	16	19058495	19058495	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:19058495G>A	uc002dfp.2	+	11	1794	c.1664G>A	c.(1663-1665)tGg>tAg	p.W555*	TMC7_uc002dfq.3_Nonsense_Mutation_p.W555*|TMC7_uc010vap.2_Nonsense_Mutation_p.W445*	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	555						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ACCATCTGCTGGATCGGAGCC	0.507000														184			76		0	0	0.014410	0	0
GJA8	2703	broad.mit.edu	37	1	147380190	147380191	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:147380190_147380191CC>TT	uc021ovm.1	+	0	108_109	c.108_109CC>TT	c.(106-111)atcctt>atTTtt	p.L37F	GJA8_uc001epu.2_Missense_Mutation_p.L37F	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	37					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGATCCTCATCCTTGGCACGGC	0.584000														37			18		0	0	0.004672	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618277	28618277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:28618277C>T	uc002dqn.3	-	7	1359	c.767G>A	c.(766-768)gGa>gAa	p.G256E	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.G165E|SULT1A1_uc002dqi.3_Missense_Mutation_p.G165E|SULT1A1_uc002dqk.3_Missense_Mutation_p.G165E|SULT1A1_uc002dql.3_Missense_Mutation_p.G165E|SULT1A1_uc002dqm.3_Missense_Mutation_p.G87E|SULT1A1_uc002dqp.3_Missense_Mutation_p.G165E	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	165					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CCCACCTTCTCCGACCATGAA	0.567000														59			8		0	0	0.004482	0	0
SETBP1	26040	broad.mit.edu	37	18	42530081	42530081	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr18:42530081C>T	uc010dni.3	+	3	1072	c.776C>T	c.(775-777)tCc>tTc	p.S259F		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	259						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCGTGGCTTCCTTTGCAAAG	0.537000									Schinzel-Giedion syndrome					51			14		0	0	0.003163	0	0
mir-34	0	broad.mit.edu	37	1	9211837	9211837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:9211837G>A	uc009vmq.3	-	1	444	c.338C>T	c.(337-339)cCg>cTg	p.P113L	mir-34_uc021ofw.1_5'Flank					Homo sapiens microRNA mir-34.																		ACAGCTGGCCGGTCCACGGCA	0.542000														37			13		0	0	0.002450	0	0
HELLS	3070	broad.mit.edu	37	10	96333840	96333840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:96333840C>T	uc009xuo.3	+	7	706	c.601C>T	c.(601-603)Cca>Tca	p.P201S	HELLS_uc001kjs.3_Missense_Mutation_p.P185S|HELLS_uc001kjt.3_Missense_Mutation_p.P201S|HELLS_uc009xul.3_Missense_Mutation_p.P201S|HELLS_uc009xum.3_Missense_Mutation_p.P201S|HELLS_uc009xun.3_Missense_Mutation_p.P77S|HELLS_uc001kju.3_5'UTR|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Missense_Mutation_p.P63S|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	201					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		CTTTTTTGACCCAGTCCGGAA	0.398000														43			23		0	0	0.004656	0	0
C7orf58	79974	broad.mit.edu	37	7	120907270	120907270	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:120907270G>A	uc003vjq.4	+	21	3081	c.2634_splice	c.e21-1	p.R878_splice		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	878						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					CTCATTCAGGGAAAATTTACT	0.303000														33			8		0	0	0.004482	0	0
ASH1L	55870	broad.mit.edu	37	1	155491015	155491015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:155491015G>A	uc009wqq.3	-	1	776	c.296C>T	c.(295-297)cCt>cTt	p.P99L	ASH1L_uc001fkt.3_Missense_Mutation_p.P99L|ASH1L_uc009wqr.1_Missense_Mutation_p.P99L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	99					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.K98K(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTTCTTTGGAGGTTTTTTAGT	0.373000														118			18		0	0	0.006122	0	0
GALNT3	2591	broad.mit.edu	37	2	166616016	166616016	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:166616016G>A	uc010fph.1	-	4	1290	c.903C>T	c.(901-903)gtC>gtT	p.V301V	GALNT3_uc010fpi.1_Silent_p.V301V	NM_004482	NP_004473	Q14435	GALT3_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.	301					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CTGGACTTACGACAGCCGTGT	0.398000														24			11		0	0	0.013537	0	0
COL11A1	1301	broad.mit.edu	37	1	103345354	103345354	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:103345354C>T	uc001dum.3	-	65	5513	c.5195G>A	c.(5194-5196)tGg>tAg	p.W1732*	COL11A1_uc001duk.3_Nonsense_Mutation_p.W916*|COL11A1_uc001dul.3_Nonsense_Mutation_p.W1720*|COL11A1_uc001dun.3_Nonsense_Mutation_p.W1681*|COL11A1_uc009weh.3_Nonsense_Mutation_p.W1604*	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1720	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CACATCATACCAGGCTGCTGA	0.423000														32			14		0	0	0.001855	0	0
OTOGL	283310	broad.mit.edu	37	12	80771790	80771790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:80771790C>T	uc001szd.3	+	57	7003	c.6997C>T	c.(6997-6999)Ctc>Ttc	p.L2333F	OTOGL_uc021rba.1_Missense_Mutation_p.L352F|OTOGL_uc009zsg.2_Missense_Mutation_p.L213F	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TATGTACACTCTCCAGGAACC	0.413000														6			5		0	0	0.000602	0	0
SLC6A20	54716	broad.mit.edu	37	3	45804443	45804443	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:45804443C>T	uc011bai.2	-	8	1549	c.1425G>A	c.(1423-1425)gtG>gtA	p.V475V	SLC6A20_uc003cow.3_Silent_p.V125V|SLC6A20_uc011baj.2_Silent_p.V438V	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	475					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.V475L(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CAATCGTCTCCACCAGCACGA	0.582000														58			14		0	0	0.003163	0	0
NXN	64359	broad.mit.edu	37	17	704267	704267	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:704267C>T	uc002fsa.3	-	7	1310	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V	NXN_uc010vqd.2_Silent_p.V101V|NXN_uc010vqe.2_Silent_p.V302V	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.	410					Wnt receptor signaling pathway|cell differentiation|cell redox homeostasis|multicellular organismal development	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TGATCTCCTCCACGTCCATCA	0.592000														13			20		0	0	0.007413	0	0
SPDYA	245711	broad.mit.edu	37	2	29072765	29072765	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:29072765G>A	uc002rmj.3	+	7	1106	c.900G>A	c.(898-900)aaG>aaA	p.K300K	SPDYA_uc002rmk.3_Silent_p.K300K|TRMT61B_uc002rmm.3_3'UTR	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	Homo sapiens speedy homolog A (Xenopus laevis) (SPDYA), transcript variant 1, mRNA.	300					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					ATTTCTTGAAGAAAGACAAAT	0.294000														24			5		0	0	0.001984	0	0
EHHADH	1962	broad.mit.edu	37	3	184922264	184922264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:184922264G>A	uc003fpf.3	-	5	926	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	EHHADH_uc011brs.2_Missense_Mutation_p.P188S	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	284	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	p.P284P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GCTCCGGAGGGAGTTGACCAC	0.493000														58			24		0	0	0.003954	0	0
TCN1	6947	broad.mit.edu	37	11	59620483	59620483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:59620483C>T	uc001noj.2	-	8	1365	c.1267G>A	c.(1267-1269)Gga>Aga	p.G423R		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	423					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGTTTTCTCCATTGCGGACA	0.413000														56			36		0	0	0.004289	0	0
MAP1B	4131	broad.mit.edu	37	5	71411610	71411610	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:71411610C>T	uc003kbw.4	+	1	511	c.270C>T	c.(268-270)ttC>ttT	p.F90F	MAP1B_uc010iyw.1_Silent_p.F90F|MAP1B_uc010iyx.1_5'UTR	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	90						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGCAAGATTCTCTCCTGAAG	0.468000														57			4		0	0	0.001984	0	0
CHRNA2	1135	broad.mit.edu	37	8	27321275	27321275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:27321275C>T	uc010lur.3	-	5	1294	c.685G>A	c.(685-687)Ggc>Agc	p.G229S	CHRNA2_uc011lal.2_Missense_Mutation_p.G214S|CHRNA2_uc010lus.3_Missense_Mutation_p.G31S	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	229						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GCCCACTCGCCGCTCTCCCAG	0.572000														45			6		0	0	0.001984	0	0
HECTD1	25831	broad.mit.edu	37	14	31614085	31614085	+	Silent	SNP	A	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:31614085A>T	uc001wrc.1	-	15	3048	c.2559T>A	c.(2557-2559)cgT>cgA	p.R853R	HECTD1_uc001wrd.1_Silent_p.R368R	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	853					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCACTACTCCACGAGGCATGC	0.353000														25			4		0	0	0.009096	0	0
ODZ1	10178	broad.mit.edu	37	X	123870877	123870877	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:123870877T>C	uc010nqy.3	-	3	770	c.706A>G	c.(706-708)Acc>Gcc	p.T236A	ODZ1_uc011muj.2_Missense_Mutation_p.T236A|ODZ1_uc004euj.3_Missense_Mutation_p.T236A	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	236	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TGCGTGCTGGTTGGGGGAGCT	0.562000														92			12		0	0	0.001855	0	0
C1orf168	199920	broad.mit.edu	37	1	57258455	57258455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:57258455C>T	uc001cym.4	-	1	437	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.E11K	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	11										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCTCGAAGTTCCTTGAAGTTT	0.378000														94			37		0	0	0.005524	0	0
ZNF160	90338	broad.mit.edu	37	19	53571608	53571608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:53571608G>A	uc010eqk.3	-	6	2595	c.2179C>T	c.(2179-2181)Cat>Tat	p.H727Y	ZNF160_uc002qaq.4_Missense_Mutation_p.H727Y|ZNF160_uc002qar.4_Missense_Mutation_p.H727Y	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	727					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTCCCAGTATGGATTGCCTGA	0.443000														55			14		0	0	0.004007	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546929	37546929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:37546929G>A	uc002xje.3	+	10	1513	c.1324G>A	c.(1324-1326)Ggg>Agg	p.G442R	PPP1R16B_uc010ggc.3_Missense_Mutation_p.G400R	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	442					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GCTGGCCAACGGGGATGTCTG	0.607000														90			54		0	0	0.014410	0	0
FRAS1	80144	broad.mit.edu	37	4	79399128	79399128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:79399128G>A	uc003hlb.2	+	54	8451	c.8011G>A	c.(8011-8013)Gag>Aag	p.E2671K		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2666	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAACGATACCGAGGATGAACC	0.458000														15			4		0	0	0.009096	0	0
PAX8	7849	broad.mit.edu	37	2	113999231	113999231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:113999231G>A	uc010yxt.2	-	6	840	c.674C>T	c.(673-675)aCg>aTg	p.T225M	PAX8_uc010yxu.2_Missense_Mutation_p.T225M|PAX8_uc002tjm.3_Missense_Mutation_p.T225M|PAX8_uc002tjn.3_Missense_Mutation_p.T225M|PAX8_uc010fku.1_Missense_Mutation_p.T225M|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	225					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GAAGGCATCCGTGCGAAGGTG	0.617000			T	PPARG	follicular thyroid		Thyroid dysgenesis							30			8		0	0	0.003080	0	0
MYH11	4629	broad.mit.edu	37	16	15835634	15835634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:15835634C>T	uc002ddx.3	-	21	2763	c.2656G>A	c.(2656-2658)Gaa>Aaa	p.E886K	MYH11_uc002ddv.3_Missense_Mutation_p.E886K|MYH11_uc002ddw.3_Missense_Mutation_p.E879K|MYH11_uc002ddy.3_Missense_Mutation_p.E879K|MYH11_uc010bvg.3_Missense_Mutation_p.E711K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	879					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGCTTCTGTTCCAGCTCCTTA	0.612000			T	CBFB	AML									95			31		0	0	0.003271	0	0
WDR49	151790	broad.mit.edu	37	3	167319957	167319957	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:167319957G>A	uc003fev.1	-	2	514	c.210C>T	c.(208-210)ttC>ttT	p.F70F	WDR49_uc011bpd.1_Silent_p.F123F|WDR49_uc003few.1_Silent_p.F411F	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	70										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTTCCACAAAGAATTGGACGG	0.398000														48			7		0	0	0.001984	0	0
FCGR1B	2210	broad.mit.edu	37	1	120927157	120927157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:120927157C>T	uc001eip.3	-	4	873	c.823G>A	c.(823-825)Gag>Aag	p.E275K	FCGR1B_uc010oxl.2_Non-coding_Transcript|FCGR1B_uc001eiq.3_Missense_Mutation_p.E183K	NM_001017986	NP_001017986	Q92637	FCGRB_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ib, receptor (CD64) (FCGR1B), transcript variant 1, mRNA.	275					interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCCTGGGGCTCCTTCCGGTGC	0.547000														39			8		0	0	0.010729	0	0
COL4A1	1282	broad.mit.edu	37	13	110845189	110845189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:110845189G>A	uc001vqw.4	-	22	1575	c.1453C>T	c.(1453-1455)Ccg>Tcg	p.P485S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	485	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ATTTCTCCCGGGGGTCCCTGT	0.488000														48			21		0	0	0.003954	0	0
ZNF366	167465	broad.mit.edu	37	5	71756238	71756238	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:71756238C>T	uc003kce.1	-	1	1272	c.1086G>A	c.(1084-1086)ggG>ggA	p.G362G		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGTTCTCGCGCCCACTGGCGT	0.657000														23			5		0	0	0.001168	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989716	15989716	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:15989716C>T	uc002nbs.1	-	12	1478	c.1428G>A	c.(1426-1428)gcG>gcA	p.A476A	CYP4F2_uc010xot.1_Silent_p.A327A	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	476					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.A476A(2)|p.A476V(1)|p.M475K(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCTTCATCTCCGCCATCGCGA	0.672000														22			6		0	0	0.001984	0	0
OR4C13	283092	broad.mit.edu	37	11	49974376	49974376	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:49974376G>A	uc010rhz.2	+	0	434	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CCACCGTCATGAAGCAGCATG	0.463000														25			22		0	0	0.003954	0	0
ACSM1	116285	broad.mit.edu	37	16	20648710	20648710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:20648710G>A	uc002dhm.1	-	7	1248	c.1180C>T	c.(1180-1182)Cca>Tca	p.P394S	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.P394S	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	394					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCGTAGGGTGGAGTGGCCTTC	0.537000														84			26		0	0	0.009535	0	0
ZNF136	7695	broad.mit.edu	37	19	12298662	12298662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:12298662C>T	uc002mti.3	+	3	1616	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	ZNF136_uc010xmh.2_Missense_Mutation_p.S424F	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	490					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TCTTCTAGTTCCTTTCGACTA	0.428000														32			14		0	0	0.002450	0	0
SETDB2	83852	broad.mit.edu	37	13	50055134	50055134	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:50055134C>T	uc001vcz.3	+	8	1980	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N	SETDB2_uc010adg.2_Silent_p.N334N|SETDB2_uc010adh.2_Silent_p.N346N|SETDB2_uc001vda.3_Silent_p.N346N|SETDB2_uc021rjn.1_Silent_p.N275N	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	358	Pre-SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TGTGTCAAAACCGAGTTGTCC	0.413000														50			12		0	0	0.001855	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724535	38724535	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:38724535G>A	uc001wum.1	-	0	1040	c.693C>T	c.(691-693)atC>atT	p.I231I		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	231						integral to membrane	sugar binding	p.E230K(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AGCGAGCGCCGATTTCGTCCG	0.632000														98			21		0	0	0.002780	0	0
BVES	11149	broad.mit.edu	37	6	105563561	105563561	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:105563561G>A	uc003pqw.3	-	7	1115	c.958_splice	c.e7+1	p.H320_splice	BVES_uc003pqx.3_Splice_Site_p.H320_splice|BVES_uc003pqy.3_Splice_Site_p.H320_splice	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	320					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GATAACTTACGAAGAGAGGAC	0.443000														25			43		0	0	0.014410	0	0
OR2L1P	26247	broad.mit.edu	37	1	248154310	248154310	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:248154310G>A	uc001idv.1	+	0	742	c.498G>A	c.(496-498)gtG>gtA	p.V166V	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						TCACTGTAGTGACTTTCTACT	0.517000														57			17		0	0	0.006122	0	0
ITGA4	3676	broad.mit.edu	37	2	182396441	182396441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:182396441G>A	uc002unu.3	+	24	3485	c.2722G>A	c.(2722-2724)Gaa>Aaa	p.E908K	ITGA4_uc002unv.3_Missense_Mutation_p.E153K	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	908					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGGGAAAATGGAAAGTGGAAA	0.348000														61			8		0	0	0.004482	0	0
SELL	6402	broad.mit.edu	37	1	169672429	169672429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:169672429C>T	uc010pls.2	-	3	887	c.778G>A	c.(778-780)Gga>Aga	p.G260R	C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Missense_Mutation_p.G320R|SELL_uc001ggl.2_Missense_Mutation_p.G320R	NM_000655	NP_000646	P14151	LYAM1_HUMAN	Homo sapiens selectin L (SELL), transcript variant 1, mRNA.	307	Sushi 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GACCAGATTCCAGATGATTCA	0.428000														25			5		0	0	0.001168	0	0
GRXCR1	389207	broad.mit.edu	37	4	43032468	43032468	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:43032468C>T	uc003gwt.3	+	3	785	c.784C>T	c.(784-786)Cga>Tga	p.R262*		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	262					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.R262*(2)|p.R262L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTCCATGTTTCGAAACTGCTT	0.473000														81			42		0	0	0.014410	0	0
ADC	113451	broad.mit.edu	37	1	33583706	33583707	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:33583706_33583707CC>TT	uc009vug.3	+	7	1365_1366	c.1293_1294CC>TT	c.(1291-1296)tcccgg>tcTTgg	p.R432W	ADC_uc001bwr.3_Missense_Mutation_p.R412W|ADC_uc001bws.3_Missense_Mutation_p.R412W|ADC_uc009vue.3_Missense_Mutation_p.R412W|ADC_uc001bwt.1_Missense_Mutation_p.R317W|ADC_uc001bwu.3_Missense_Mutation_p.R317W|ADC_uc001bwv.3_Missense_Mutation_p.R317W|ADC_uc001bwx.1_Missense_Mutation_p.R389W	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	412					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	ATGCCATGTCCCGGGTGGCCTG	0.569000														21			12		0	0	0.004672	0	0
MYO16	23026	broad.mit.edu	37	13	109793613	109793613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:109793613C>T	uc010agk.2	+	31	5675	c.5053C>T	c.(5053-5055)Ccc>Tcc	p.P1685S	MYO16_uc001vqt.1_Missense_Mutation_p.P1663S	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1663					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity	p.P1663T(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTACAGCCCTCCCAGCTCCAG	0.667000														22			5		0	0	0.000602	0	0
ATP1A2	477	broad.mit.edu	37	1	160098511	160098511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:160098511G>A	uc001fvc.3	+	8	1219	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	ATP1A2_uc001fvb.2_Missense_Mutation_p.E363K|ATP1A2_uc010piz.1_Missense_Mutation_p.E208K|ATP1A2_uc001fvd.3_Missense_Mutation_p.E99K|ATP1A2_uc009wtg.1_Missense_Mutation_p.E51K	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	363					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGAGGCGGTGGAGACGCTGGG	0.577000														49			6		0	0	0.001168	0	0
RQCD1	9125	broad.mit.edu	37	2	219449406	219449406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:219449406C>T	uc010zkh.2	+	3	392	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RQCD1_uc002vih.1_Missense_Mutation_p.P131L|RQCD1_uc010zki.2_Missense_Mutation_p.P131L	NM_005444	NP_005435	Q92600	RCD1_HUMAN	Homo sapiens RCD1 required for cell differentiation1 homolog (S. pombe) (RQCD1), mRNA.	131					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAACACGTCCCTTTGAGTAT	0.423000														119			18		0	0	0.012319	0	0
GP5	2814	broad.mit.edu	37	3	194118415	194118415	+	Silent	SNP	A	G	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:194118415A>G	uc003ftv.1	-	1	628	c.597T>C	c.(595-597)ctT>ctC	p.L199L	GP5_uc021xiz.1_Silent_p.L199L	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	199					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AGTGGAGCAGAAGTCTCTCGA	0.557000														36			15		0	0	0.002450	0	0
PLCH1	23007	broad.mit.edu	37	3	155200041	155200041	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:155200041G>A	uc021xge.1	-	22	4075	c.3798C>T	c.(3796-3798)acC>acT	p.T1266T	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.T1228T	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1266					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)			CATGTTTGGTGGTCTCAGAAC	0.468000														80			10		0	0	0.008291	0	0
AUTS2	26053	broad.mit.edu	37	7	70228046	70228046	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:70228046G>A	uc003tvw.4	+	6	1668	c.933G>A	c.(931-933)acG>acA	p.T311T	AUTS2_uc003tvx.4_Silent_p.T311T	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	311								p.Q310K(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGCCGCAGACGGAGCCCCAAC	0.617000														30			10		0	0	0.008291	0	0
NFIX	4784	broad.mit.edu	37	19	13184817	13184817	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:13184817C>T	uc010xmx.2	+	4	872	c.819C>T	c.(817-819)tcC>tcT	p.S273S	NFIX_uc002mwd.3_Silent_p.S265S|NFIX_uc002mwe.3_Silent_p.S257S|NFIX_uc002mwf.3_Silent_p.S268S|NFIX_uc002mwg.2_Silent_p.S264S			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	265					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GGCGGCGGTCCATCACCTCCC	0.627000														54			22		0	0	0.003330	0	0
PTPN9	5780	broad.mit.edu	37	15	75798234	75798234	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr15:75798234G>A	uc002bal.3	-	6	1258	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	250						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGGGTAGGAACTGGAAAT	0.537000														29			8		0	0	0.003080	0	0
CD5L	922	broad.mit.edu	37	1	157804505	157804505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:157804505C>T	uc001frk.4	-	3	553	c.410G>A	c.(409-411)gGt>gAt	p.G137D		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	137					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGCCTGACACCCTCTGGGAC	0.597000														25			17		0	0	0.004990	0	0
HCAR1	27198	broad.mit.edu	37	12	123214635	123214635	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:123214635C>T	uc001ucz.3	-	0	495	c.252G>A	c.(250-252)ggG>ggA	p.G84G	HCAR1_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.	84					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						AGGGAATGTCCCCAAAAGCCC	0.532000														16			4		0	0	0.009096	0	0
EPHA2	1969	broad.mit.edu	37	1	16456733	16456733	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:16456733T>C	uc001aya.2	-	14	2812	c.2657A>G	c.(2656-2658)gAc>gGc	p.D886G		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	886	Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGGGTCAAAGTCAGCCAGGGT	0.582000														27			12		0	0	0.010729	0	0
SQRDL	58472	broad.mit.edu	37	15	45965929	45965929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr15:45965929C>T	uc001zvu.3	+	5	777	c.584C>T	c.(583-585)cCa>cTa	p.P195L	SQRDL_uc001zvv.3_Missense_Mutation_p.P195L	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	195							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TTCACCTTCCCAAATACTCCA	0.463000														34			5		0	0	0.000602	0	0
SYCE1	93426	broad.mit.edu	37	10	135372393	135372393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:135372393C>T	uc001lno.2	-	3	364	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_5'UTR|SYCE1_uc009ybn.2_Missense_Mutation_p.E87K|SYCE1_uc001lnn.2_Missense_Mutation_p.E51K	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	87					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GAGTCCAGTTCCTTCTGCAGG	0.522000														11			6		0	0	0.003080	0	0
CSMD1	64478	broad.mit.edu	37	8	3565960	3565960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:3565960C>T	uc022aqr.1	-	6	1375	c.985G>A	c.(985-987)Gat>Aat	p.D329N		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	329						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGCTTCCATCCTTGCTGGGC	0.453000														40			11		0	0	0.013537	0	0
TNK2	10188	broad.mit.edu	37	3	195610038	195610038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:195610038G>A	uc003fvu.1	-	4	1142	c.599C>T	c.(598-600)cCc>cTc	p.P200L	TNK2_uc003fvs.1_Missense_Mutation_p.P232L|TNK2_uc003fvt.1_Missense_Mutation_p.P263L|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Missense_Mutation_p.P30L|TNK2_uc010hzx.1_Missense_Mutation_p.P214L	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	200	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATCTTCATGGGCGGCGTGAG	0.627000														18			4		0	0	0.009096	0	0
OR11H12	440153	broad.mit.edu	37	14	19378035	19378035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:19378035C>T	uc010tkp.2	+	0	442	c.442C>T	c.(442-444)Cct>Tct	p.P148S		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGCTCTATCCTAATATCAT	0.448000														189			8		0	0	0.002780	0	0
COL4A6	1288	broad.mit.edu	37	X	107431209	107431209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:107431209C>T	uc004enw.4	-	21	1742	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	COL4A6_uc004env.4_Missense_Mutation_p.E546K|COL4A6_uc011msn.2_Missense_Mutation_p.E546K|COL4A6_uc010npk.3_Missense_Mutation_p.E546K	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	547	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.P547Q(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGAATTGGTTCCCCCTTCTTT	0.512000									Alport syndrome with Diffuse Leiomyomatosis					38			22		0	0	0.003330	0	0
RAVER1	125950	broad.mit.edu	37	19	10432267	10432267	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:10432267G>A	uc002moa.3	-	6	1332	c.1252C>T	c.(1252-1254)Ctg>Ttg	p.L418L		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	401	Pro-rich.					cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			AGGGCGCCCAGGGGTGAGTCT	0.682000														28			9		0	0	0.008291	0	0
KCNAB2	8514	broad.mit.edu	37	1	6155618	6155618	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:6155618G>A	uc009vlv.2	+	12	1281	c.738G>A	c.(736-738)ctG>ctA	p.L246L	KCNAB2_uc001alv.2_Silent_p.L246L|KCNAB2_uc001alw.2_Silent_p.L232L|KCNAB2_uc001alx.2_Silent_p.L246L|KCNAB2_uc001aly.2_Silent_p.L294L|KCNAB2_uc009vlw.2_Silent_p.L179L|KCNAB2_uc001alu.3_Silent_p.L246L	NM_001199861	NP_001186790	Q13303	KCAB2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 2 (KCNAB2), transcript variant 4, mRNA.	246						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCCCCTCTGGCCTGTGGCA	0.647000														65			10		0	0	0.013537	0	0
ANGEL1	23357	broad.mit.edu	37	14	77255601	77255601	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:77255601G>A	uc001xsv.3	-	9	2096	c.1983C>T	c.(1981-1983)gcC>gcT	p.A661A	AK125727_uc001xsu.1_5'Flank	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	661										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCCCGAAGCTGGCTAGCAGGC	0.567000														56			34		0	0	0.004289	0	0
DFNA5	1687	broad.mit.edu	37	7	24789247	24789247	+	Silent	SNP	G	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:24789247G>T	uc010kus.1	-	1	235	c.147C>A	c.(145-147)ccC>ccA	p.P49P	DFNA5_uc003sxa.1_Silent_p.P49P|DFNA5_uc010kut.1_Intron	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	49					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						ACTGGTACTTGGGTCTCTGCC	0.418000														167			7		0.00198382	0.00476396	0.001984	1	0
TRANK1	9881	broad.mit.edu	37	3	36898673	36898673	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:36898673G>A	uc003cgj.3	-	11	2656	c.2408C>T	c.(2407-2409)tCt>tTt	p.S803F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	803					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TACCTTACTAGACAGCTTCTT	0.517000														115			45		0	0	0.014410	0	0
IPO11	51194	broad.mit.edu	37	5	61779893	61779893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:61779893C>T	uc011cqr.2	+	10	1328	c.1198C>T	c.(1198-1200)Cct>Tct	p.P400S	IPO11_uc003jtc.3_Missense_Mutation_p.P360S	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	360						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CTTCACATATCCTACTTTGAC	0.353000														46			6		0	0	0.001168	0	0
RAB27B	5874	broad.mit.edu	37	18	52551645	52551645	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr18:52551645C>T	uc002lfr.3	+	3	564	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	107					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		AACAGAGCTTCTTAAATGTCA	0.468000														54			25		0	0	0.006320	0	0
TECPR2	9895	broad.mit.edu	37	14	102918804	102918804	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:102918804C>T	uc001ylw.2	+	15	3706	c.3480C>T	c.(3478-3480)ccC>ccT	p.P1160P	TECPR2_uc010awl.3_Silent_p.P1160P|TECPR2_uc010txx.2_Silent_p.P323P	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	1160							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						AGTCGCGGCCCTCCACGGTGC	0.652000														11			9		0	0	0.008291	0	0
SLC34A2	10568	broad.mit.edu	37	4	25674773	25674773	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:25674773C>T	uc003grr.3	+	9	1194	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	SLC34A2_uc003grs.3_Silent_p.L370L|SLC34A2_uc010iev.3_Silent_p.L370L	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	371					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.I370L(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGCTCATACTCTCCCTGCTGG	0.517000			T	ROS1	NSCLC									78			36		0	0	0.004289	0	0
KANSL1L	151050	broad.mit.edu	37	2	210888825	210888825	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:210888825G>A	uc002vds.3	-	13	2873	c.2665C>T	c.(2665-2667)Ctt>Ttt	p.L889F	KANSL1L_uc002vdt.3_Missense_Mutation_p.L847F	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	Homo sapiens chromosome 2 open reading frame 67 (C2orf67), mRNA.	889																	TCTGAAGGAAGCCCAGGAGGA	0.398000														18			10		0	0	0.006214	0	0
CLCA1	1179	broad.mit.edu	37	1	86961235	86961235	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:86961235A>G	uc001dlt.3	+	11	2250	c.1990A>G	c.(1990-1992)Act>Gct	p.T664A		NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	664					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GTATTTCACAACTTATGACAC	0.448000														37			5		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179642222	179642222	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:179642222C>T	uc021vsy.1	-	25	4795	c.4570G>A	c.(4570-4572)Gat>Aat	p.D1524N	TTN_uc021vsz.1_Missense_Mutation_p.D1478N|TTN_uc021vta.1_Missense_Mutation_p.D1478N|TTN_uc021vtb.1_Missense_Mutation_p.D1478N|TTN_uc002unb.2_Missense_Mutation_p.D1524N|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1524	Ig-like 6.						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)			TCCCCAGAATCACTGGGTGTG	0.378000														13			5		0	0	0.000602	0	0
ATG7	10533	broad.mit.edu	37	3	11389359	11389359	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:11389359C>T	uc003bwc.3	+	11	1251	c.1134C>T	c.(1132-1134)ggC>ggT	p.G378G	ATG7_uc003bwd.3_Silent_p.G378G|ATG7_uc011aum.2_Silent_p.G339G	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	378					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	p.G378G(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGGGTTGGGGCGTGAGACACA	0.463000														16			17		0	0	0.007413	0	0
IL7	3574	broad.mit.edu	37	8	79710399	79710399	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:79710399G>A	uc003ybg.3	-	1	656	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	IL7_uc022awh.1_Silent_p.L19L|IL7_uc022awi.1_Silent_p.L19L|IL7_uc022awj.1_Silent_p.L19L|IL7_uc003ybh.3_Non-coding_Transcript|IL7_uc003ybi.3_Non-coding_Transcript	NM_000880	NP_000871	P13232	IL7_HUMAN	Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.	19					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						ACTGGCAACAGAACAAGGATC	0.343000														31			10		0	0	0.006214	0	0
SCAND3	114821	broad.mit.edu	37	6	28542663	28542663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:28542663C>T	uc003nlo.3	-	2	2437	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	607					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CATTCTTTTTCACAAACTACA	0.418000														25			19		0	0	0.006122	0	0
ASIC2	40	broad.mit.edu	37	17	31350947	31350947	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:31350947C>T	uc002hht.3	-	5	2154	c.1281G>A	c.(1279-1281)gtG>gtA	p.V427V	ASIC2_uc002hhu.3_Silent_p.V376V	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	376					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TGGGGATCTTCACCATGGAGA	0.478000														34			31		0	0	0.013726	0	0
FMO3	2328	broad.mit.edu	37	1	171083326	171083326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:171083326C>T	uc001ghi.3	+	6	1118	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	FMO3_uc001ghh.3_Missense_Mutation_p.P336L|FMO3_uc010pmb.2_Missense_Mutation_p.P316L|FMO3_uc010pmc.2_Missense_Mutation_p.P273L	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	336					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTGCCTACCCCTTCCTTGAT	0.403000														34			32		0	0	0.003271	0	0
TBC1D1	23216	broad.mit.edu	37	4	38055922	38055922	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:38055922C>T	uc003gtb.3	+	11	2371	c.2013C>T	c.(2011-2013)acC>acT	p.T671T	TBC1D1_uc011byd.2_Silent_p.T765T|TBC1D1_uc010ifd.3_Silent_p.T458T|TBC1D1_uc011byf.1_Silent_p.T542T	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	671						nucleus	Rab GTPase activator activity	p.A670T(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GAGTAGCCACCCCGCAGAAGG	0.542000														84			31		0	0	0.003271	0	0
MMP25	64386	broad.mit.edu	37	16	3100339	3100339	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:3100339G>A	uc002cth.3	+	3	690	c.453G>A	c.(451-453)atG>atA	p.M151I	MMP25_uc002cti.1_Missense_Mutation_p.M87I	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA.	151					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CCTGGGGCATGGAGTCAGGCC	0.637000														28			17		0	0	0.004007	0	0
PLK1S1	55857	broad.mit.edu	37	20	21142942	21142942	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:21142942G>A	uc002wsb.3	+	4	969	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	PLK1S1_uc010zsh.2_Missense_Mutation_p.R176Q|PLK1S1_uc010zsi.2_Missense_Mutation_p.R146Q|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	279					spindle organization	centrosome	protein kinase binding										TCCCCGTTACGGGAAAGATTA	0.428000														76			22		0	0	0.004656	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283910	151283910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:151283910C>T	uc004ffj.3	-	2	275	c.103G>A	c.(103-105)Gag>Aag	p.E35K	MAGEA5_uc022cgy.1_Missense_Mutation_p.E35K	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.	35	MAGE.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCCTGCTCCTCAGTAGTG	0.632000														24			17		0	0	0.004990	0	0
PTPRT	11122	broad.mit.edu	37	20	40735467	40735467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:40735467G>A	uc002xkg.3	-	23	3533	c.3349C>T	c.(3349-3351)Cgt>Tgt	p.R1117C	PTPRT_uc010ggj.3_Missense_Mutation_p.R1136C|PTPRT_uc010ggi.3_Missense_Mutation_p.R320C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1117	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGGAGCTCACGCACGCAGTTG	0.582000														51			16		0	0	0.004007	0	0
FAT4	79633	broad.mit.edu	37	4	126369700	126369700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:126369700C>T	uc003ifj.4	+	8	7529	c.7529C>T	c.(7528-7530)tCt>tTt	p.S2510F	FAT4_uc011cgp.2_Missense_Mutation_p.S808F|FAT4_uc003ifi.1_5'UTR	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2510	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTAGAAATTCTGAAAAATTT	0.418000														41			28		0	0	0.005443	0	0
USH2A	7399	broad.mit.edu	37	1	215972273	215972273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:215972273C>T	uc001hku.1	-	49	10321	c.9934G>A	c.(9934-9936)Gga>Aga	p.G3312R		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3312					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.E3311D(1)|p.G3312E(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACACCACTCCTTCTTCTCCA	0.502000										HNSCC(13;0.011)				37			24		0	0	0.003954	0	0
CCR7	1236	broad.mit.edu	37	17	38712013	38712014	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:38712013_38712014CC>TT	uc002huw.3	-	2	192_193	c.117_118GG>AA	c.(115-120)gtggac>gtAAac	p.D40N		NM_001838	NP_001829	P32248	CCR7_HUMAN	Homo sapiens chemokine (C-C motif) receptor 7 (CCR7), mRNA.	40					T cell costimulation|cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AAAGTGTAGTCCACTGTGGTGT	0.495000														51			5		0	0	0.004672	0	0
SUN1	23353	broad.mit.edu	37	7	882989	882989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:882989G>A	uc021zym.1	+	4	510	c.490G>A	c.(490-492)Gct>Act	p.A164T	SUN1_uc021zyl.1_Missense_Mutation_p.A164T|SUN1_uc010ksa.1_Missense_Mutation_p.A185T|SUN1_uc003sje.1_Missense_Mutation_p.A164T|SUN1_uc011jvq.2_Intron|SUN1_uc003sjf.3_Missense_Mutation_p.A114T|SUN1_uc003sjg.3_5'UTR	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	164					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGAAATAAAGCTGCCATTCA	0.473000														71			32		0	0	0.012213	0	0
TNXB	7148	broad.mit.edu	37	6	32037516	32037516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:32037516C>T	uc003nzl.2	-	14	5603	c.5401G>A	c.(5401-5403)Ggc>Agc	p.G1801S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1883	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCAAACTGGCCCTCAGGGACT	0.647000														173			134		0	0	0.014410	0	0
GPR63	81491	broad.mit.edu	37	6	97246563	97246563	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:97246563A>T	uc010kcl.3	-	2	1523	c.1045T>A	c.(1045-1047)Ttt>Att	p.F349I	GPR63_uc003pou.3_Missense_Mutation_p.F349I|GPR63_uc021zcy.1_Missense_Mutation_p.F349I	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	349						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.N348I(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ATCTCAAAAAAGTTGTGCTGA	0.433000														28			20		0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9067222	9067222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9067222G>A	uc002mkp.3	-	2	20428	c.20224C>T	c.(20224-20226)Cct>Tct	p.P6742S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6744	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCCAAGAGGAGGACCTGTT	0.502000														144			26		0	0	0.006320	0	0
FSTL5	56884	broad.mit.edu	37	4	162508617	162508617	+	Silent	SNP	G	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:162508617G>A	uc003iqh.3	-	7	1441	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	FSTL5_uc003iqi.3_Silent_p.F334F|FSTL5_uc010iqv.3_Silent_p.F334F	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	335	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CATTCACTTGGAAGATGTGAG	0.373000														35			25		0	0	0.006320	0	0
UGP2	7360	broad.mit.edu	37	2	64118256	64118256	+	Silent	SNP	A	G	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:64118256A>G	uc010ypx.2	+	9	1456	c.1449A>G	c.(1447-1449)ggA>ggG	p.G483G	UGP2_uc002scl.3_Silent_p.G463G|UGP2_uc002scm.3_Silent_p.G474G	NM_001001521	NP_001001521	Q16851	UGPA_HUMAN	Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 2, mRNA.	474	Oligomerization (By similarity).				UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycogen biosynthetic process|phosphorylation|xenobiotic metabolic process	cytosol	UTP:glucose-1-phosphate uridylyltransferase activity|metal ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TCACTTAGGGAACGGTTATCA	0.368000														27			8		0	0	0.003080	0	0
MMP16	4325	broad.mit.edu	37	8	89128865	89128865	+	Silent	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:89128865C>T	uc003yeb.4	-	5	1236	c.954G>A	c.(952-954)agG>agA	p.R318R		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	318					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGTCATTTTTCCTTGGGTCAG	0.527000														101			37		0	0	0.006230	0	0
CD4	920	broad.mit.edu	37	12	6927668	6927668	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:6927668G>C	uc001qqv.2	+	7	1496	c.1238G>C	c.(1237-1239)gGg>gCg	p.G413A	CD4_uc010sfj.2_Missense_Mutation_p.G140A|CD4_uc009zfc.2_Missense_Mutation_p.G234A|CD4_uc010sfl.2_Missense_Mutation_p.G140A|CD4_uc010sfk.2_Missense_Mutation_p.G140A|CD4_uc010sfm.1_Missense_Mutation_p.G140A	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	413					T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CTTTTCATTGGGCTAGGCATC	0.607000														40			5		0	0	0.001168	0	0
KIAA0232	9778	broad.mit.edu	37	4	6860184	6860184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:6860184C>T	uc003gjr.4	+	5	932	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	KIAA0232_uc003gjq.4_Missense_Mutation_p.P157S	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	157							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGAGGGGTCTCCCTCTCCAGA	0.328000														21			7		0	0	0.003080	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430903	37430903	+	Missense_Mutation	SNP	G	A	A	rs77379875		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:37430903G>A	uc021ppc.1	+	6	1009	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E304K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACACCTAGGGAAATTACGAG	0.443000														17			21		0	0	0.012319	0	0
INPP4A	3631	broad.mit.edu	37	2	99189310	99189310	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:99189310delC	uc002syy.3	+	23	2959	c.2566delC	c.(2566-2568)ccafs	p.P856fs	INPP4A_uc010yvj.1_Frame_Shift_Del_p.P817fs|INPP4A_uc010yvk.2_Frame_Shift_Del_p.P817fs|INPP4A_uc002syx.3_Frame_Shift_Del_p.P851fs|INPP4A_uc010fik.3_Frame_Shift_Del_p.P185fs	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	856					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GACGTGCCTGCCAGAGCTGCT	0.592													---	4	---	---	2	---					
MTTP	4547	broad.mit.edu	37	4	100516025	100516025	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:100516025delT	uc011cej.2	+	6	988	c.975delT	c.(973-975)tgtfs	p.C325fs	MTTP_uc003hvc.4_Frame_Shift_Del_p.C298fs	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	298	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGAGCCACTGTAAAGGATGTC	0.433													---	64	---	---	29	---					
UBQLN1	29979	broad.mit.edu	37	9	86322554	86322554	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr9:86322554delT	uc004amv.3	-	0	615	c.41delA	c.(40-42)cagfs	p.Q14fs	UBQLN1_uc004amw.3_Frame_Shift_Del_p.Q14fs|AK300656_uc004amx.3_5'Flank	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	Homo sapiens ubiquilin 1 (UBQLN1), transcript variant 1, mRNA.	14					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GGCGCTATCCTGGGAGCCCGG	0.692													---	4	---	---	2	---					
PTEN	5728	broad.mit.edu	37	10	89720711	89720712	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:89720711_89720712insA	uc001kfb.3	+	7	1894_1895	c.862_863insA	c.(862-864)gaafs	p.E288fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	288	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.E288fs*3(11)|p.R55fs*1(5)|p.E288*(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.S287fs*8(2)|p.W274_F341del(2)|p.S287fs*1(2)|p.E288K(2)|p.E288fs*9(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.E288fs*8(1)|p.S287fs*4(1)|p.S287*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAACCTCAGAAAAAGTAGAA	0.312		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	30	---	---	12	---					
AHNAK	79026	broad.mit.edu	37	11	62293194	62293205	+	In_Frame_Del	DEL	TTTTCATCTTGG	-	-			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:62293194_62293205delTTTTCATCTTGG	uc001ntl.3	-	4	8984_8995	c.8684_8695delCCAAGATGAAAA	c.(8683-8697)cccaagatgaaaatg>ctg	p.2895_2899PKMKM>L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2895					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AACTTGGGCATTTTCATCTTGGGCATCTTCAG	0.524													---	156	---	---	20	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													---	4	---	---	3	---					
WRAP53	55135	broad.mit.edu	37	17	7606722	7606722	+	Frame_Shift_Del	DEL	C	-	-	rs7640	byFrequency	TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:7606722delC	uc010vuh.2	+	10	1720	c.1565delC	c.(1564-1566)gcgfs	p.A522fs	WRAP53_uc010vui.2_Frame_Shift_Del_p.A522fs|WRAP53_uc002gip.3_Frame_Shift_Del_p.A522fs|WRAP53_uc002gir.3_Frame_Shift_Del_p.A522fs|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Frame_Shift_Del_p.A489fs|EFNB3_uc002gis.3_5'Flank	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	522			A -> G (in dbSNP:rs7640).		positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding	p.A522G(2)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TGTGGGGGGGCGCCAGACTCC	0.582													---	86	---	---	7	---					
MLL2	8085	broad.mit.edu	37	19	36215596	36215596	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:36215596delT	uc021usv.1	+	8	3393	c.3393delT	c.(3391-3393)cctfs	p.P1131fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	893	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.Y1131*(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCCTGCAGCCTGTGTTGCAGC	0.637			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			---	4	---	---	2	---					
SIGLEC6	946	broad.mit.edu	37	19	52034107	52034107	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:52034107delG	uc002pwy.3	-	2	742	c.534delC	c.(532-534)cccfs	p.P178fs	SIGLEC6_uc002pwz.3_Frame_Shift_Del_p.P178fs|SIGLEC6_uc010ydb.2_Frame_Shift_Del_p.P142fs|SIGLEC6_uc010ydc.2_Frame_Shift_Del_p.P178fs|SIGLEC6_uc002pxa.3_Frame_Shift_Del_p.P178fs|SIGLEC6_uc010eoz.2_Frame_Shift_Del_p.P167fs|SIGLEC6_uc010epa.2_Frame_Shift_Del_p.P167fs|SIGLEC6_uc010epb.2_Frame_Shift_Del_p.P131fs	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	178	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGAGAAGATGGGGGGCGTCC	0.662													---	56	---	---	15	---					
