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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
USP29	57663	broad.mit.edu	37	19	57641458	57641458	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:57641458C>A	ENST00000254181.4	+	4	1869	c.1415C>A	c.(1414-1416)tCt>tAt	p.S472Y	USP29_ENST00000598197.1_Missense_Mutation_p.S472Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	472					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTCAGAATTCTTTAGATCTT	0.383000													6	100					0.0215528	0.0217485	1	1	0
TXNRD3NB	645840	broad.mit.edu	37	3	126291279	126291279	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:126291279G>A	ENST00000383572.2	-	3	586	c.108C>T	c.(106-108)tgC>tgT	p.C36C	TXNRD3NB_ENST00000404489.2_Silent_p.C36C	NM_001039783.1	NP_001034872.1	Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	36										endometrium(1)|large_intestine(2)|skin(2)	5						TGTGGGAGCAGCAGCAAGCCA	0.577000													4	67					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287863	46287863	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:46287863G>A	ENST00000378966.3	+	2	1011	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	SPERT_ENST00000310521.1_Missense_Mutation_p.A235T			Q8NA61	SPERT_HUMAN	spermatid associated	235						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGACCACGTCGCCCTGCAGGT	0.677000													23	26					0	0	1	0	0
SHOX	6473	broad.mit.edu	37	X	591741	591741	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:591741G>A	ENST00000381578.1	+	2	800	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	SHOX_ENST00000381575.1_Missense_Mutation_p.E37K|SHOX_ENST00000334060.3_Missense_Mutation_p.E37K|SHOX_ENST00000554971.1_Missense_Mutation_p.E37K	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	37					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TACGTACCGGGAAGTTTTGGA	0.612000													99	127					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99370309	99370309	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:99370309A>C	ENST00000336411.2	-	4	405	c.222T>G	c.(220-222)ttT>ttG	p.F74L	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	74					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)	GACCATCATAAAAGCTGTGTG	0.418000													43	60					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2597859	2597859	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:2597859C>A	ENST00000358864.1	+	16	2097	c.2082C>A	c.(2080-2082)ttC>ttA	p.F694L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	694						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCAACAACTTCTACATGGGCC	0.602000													34	39					6.50621e-10	7.30476e-10	1	1	0
CUX1	1523	broad.mit.edu	37	7	101839971	101839971	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:101839971C>T	ENST00000360264.3	+	15	1333	c.1313C>T	c.(1312-1314)cCg>cTg	p.P438L	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.P427L|CUX1_ENST00000292535.7_Missense_Mutation_p.P427L|CUX1_ENST00000550008.2_Missense_Mutation_p.P427L|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000546411.2_Intron|CUX1_ENST00000292538.4_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	427					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGATCTTTGCCGGCCCCCCCT	0.562000													52	54					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11572925	11572925	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:11572925C>T	ENST00000262442.4	+	17	3235	c.3167C>T	c.(3166-3168)tCt>tTt	p.S1056F	DNAH9_ENST00000454412.2_Missense_Mutation_p.S1056F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCCTCCTTTCTCAGTTTAAA	0.483000													58	68					0	0	1	0	0
NPM3	10360	broad.mit.edu	37	10	103543034	103543034	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:103543034G>T	ENST00000370110.5	-	1	136	c.114C>A	c.(112-114)ttC>ttA	p.F38L	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	38							nucleic acid binding	p.F38L(1)		large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TAATACCGAAGAAAAAACTGT	0.622000													30	41					3.90053e-15	4.69772e-15	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41741077	41741077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:41741077G>A	ENST00000400454.1	-	4	1081	c.604C>T	c.(604-606)Cga>Tga	p.R202*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	202	Ig-like C2-type 2.				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			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)				CCGGTGTATCGATGCCGCGTG	0.428000													23	31					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092728	147092728	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:147092728G>T	ENST00000361727.3	+	10	2042	c.1526G>T	c.(1525-1527)aGt>aTt	p.S509I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	509	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)			AATAACTCAAGTCACTCTGTC	0.408000										HNSCC(39;0.1)			66	93					7.7325e-45	1.09557e-44	1	1	0
KLRK1	22914	broad.mit.edu	37	12	10525817	10525817	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:10525817C>T	ENST00000240618.6	-	8	687	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	KLRC4-KLRK1_ENST00000539300.1_3'UTR|KLRK1_ENST00000540818.1_Missense_Mutation_p.E183K|RP11-277P12.20_ENST00000500682.1_RNA	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	183	C-type lectin.				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TTCTGCATTTCAATTATTGTT	0.348000													45	34					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106901537	106901537	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:106901537A>G	ENST00000286398.7	+	25	3823	c.3535A>G	c.(3535-3537)Att>Gtt	p.I1179V	SMC2_ENST00000374793.3_Missense_Mutation_p.I1179V|SMC2_ENST00000374787.3_Missense_Mutation_p.I1179V	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1179					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAATGGAAAGATTTCAAAGGA	0.343000													14	48					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183072544	183072544	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:183072544G>A	ENST00000258341.4	+	2	757	c.500G>A	c.(499-501)cGg>cAg	p.R167Q		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	167	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGCGCACACGGGAAGACGGG	0.542000													51	69					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32916532	32916532	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:32916532G>T	ENST00000361627.3	+	4	1178	c.456G>T	c.(454-456)aaG>aaT	p.K152N	ARHGAP11A_ENST00000543522.1_5'UTR|ARHGAP11A_ENST00000565905.1_5'UTR|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.K152N|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.K152N	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	152	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CAGAGGAAAAGAATAAAGCTA	0.413000													41	53					3.76604e-16	4.60966e-16	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20685674	20685674	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:20685674G>T	ENST00000404938.2	+	9	1546	c.894G>T	c.(892-894)atG>atT	p.M298I		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	480	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ACTTCTTTATGAATGGAACCT	0.378000													34	32					7.61165e-28	1.03159e-27	1	1	0
CLDN22	53842	broad.mit.edu	37	4	184241024	184241024	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:184241024C>T	ENST00000323319.5	-	1	903	c.348G>A	c.(346-348)agG>agA	p.R116R	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	116					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TCAGCAGTCGCCTCTTGAGAT	0.552000													30	40					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89891741	89891741	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:89891741G>A	ENST00000435811.1	-	7	1235	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C	GABRR1_ENST00000369451.3_Missense_Mutation_p.R191C|GABRR1_ENST00000454853.2_Missense_Mutation_p.R278C	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	278					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATGTGGCGACGCAACGTGAAA	0.488000													45	58					0	0	1	0	0
PMCH	5367	broad.mit.edu	37	12	102590926	102590926	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:102590926G>T	ENST00000329406.4	-	2	347	c.273C>A	c.(271-273)ttC>ttA	p.F91L	PARPBP_ENST00000378128.3_3'UTR|PARPBP_ENST00000327680.2_3'UTR|PARPBP_ENST00000535811.1_3'UTR	NM_002674.2	NP_002665.2	P20382	MCH_HUMAN	pro-melanin-concentrating hormone	91					cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						CATGATTTAAGAAATTATGTT	0.358000													14	19					2.32078e-09	2.58765e-09	1	1	0
FNDC3B	64778	broad.mit.edu	37	3	171969146	171969146	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:171969146G>A	ENST00000336824.4	+	6	704	c.605G>A	c.(604-606)cGc>cAc	p.R202H	FNDC3B_ENST00000415807.2_Missense_Mutation_p.R202H|FNDC3B_ENST00000416957.1_Missense_Mutation_p.R202H	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	202						endoplasmic reticulum|integral to membrane		p.R202L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CAGATCGATCGCCAGAACCGC	0.478000													20	28					0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18895847	18895847	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:18895847G>T	ENST00000542601.2	-	15	2063	c.1674C>A	c.(1672-1674)gtC>gtA	p.V558V	COMP_ENST00000222271.2_Silent_p.V591V|COMP_ENST00000425807.1_Silent_p.V538V			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	591	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGTCATCCGTGACCGTGTTCA	0.557000													56	83					1.60974e-12	1.86869e-12	1	1	0
EPG5	57724	broad.mit.edu	37	18	43497741	43497741	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:43497741G>A	ENST00000282041.5	-	17	3176	c.3142C>T	c.(3142-3144)Ctg>Ttg	p.L1048L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1048					autophagy			p.L1048L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GACTGGACCAGAATTCCCAAT	0.413000													28	39					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700155	136700155	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:136700155T>A	ENST00000445907.2	+	3	1071	c.543T>A	c.(541-543)ttT>ttA	p.F181L	CHRM2_ENST00000397608.3_Missense_Mutation_p.F181L|CHRM2_ENST00000401861.1_Missense_Mutation_p.F181L|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.F181L|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.F181L|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.F181L|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	181					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TTCAGTTTTTTTCCAATGCTG	0.493000													47	52					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529441	5529441	+	Missense_Mutation	SNP	C	C	A	rs2234453	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:5529441C>A	ENST00000311659.4	-	2	1495	c.1348G>T	c.(1348-1350)Gat>Tat	p.D450Y	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	450								p.D450Y(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGCAGAATCTCCCAGCCCC	0.547000													6	75					0.0215528	0.0217485	1	1	0
CRYAA	1409	broad.mit.edu	37	21	44590650	44590650	+	Silent	SNP	C	C	T	rs61735855	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:44590650C>T	ENST00000291554.2	+	2	305	c.213C>T	c.(211-213)ttC>ttT	p.F71F	CRYAA_ENST00000398132.1_Silent_p.F34F|CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398133.1_Silent_p.F51F	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	71					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GGGACAAGTTCGTCATCTTCC	0.607000													53	36					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1026380	1026380	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:1026380G>T	ENST00000421673.2	-	20	2543	c.2493C>A	c.(2491-2493)ttC>ttA	p.F831L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	831					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGACCCCCGAGAACTCACATG	0.647000													15	15					4.7546e-09	5.27048e-09	1	1	0
NUP205	23165	broad.mit.edu	37	7	135290899	135290899	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:135290899A>C	ENST00000285968.6	+	20	2856	c.2830A>C	c.(2830-2832)Agt>Cgt	p.S944R		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	944					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCAGAGTATAAGTCAGAAACT	0.318000													5	131					0	0	1	0	0
MIR381HG	378881	broad.mit.edu	37	14	101515974	101515974	+	RNA	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:101515974T>G	ENST00000553692.1	+	0	28				MIR655_ENST00000362159.2_RNA	NR_104192.1																						TCTTTTTGAATATCAGACTCT	0.507000													15	25					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104103841	104103841	+	Missense_Mutation	SNP	G	G	A	rs145502597		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:104103841G>A	ENST00000369983.3	+	4	457	c.197G>A	c.(196-198)cGa>cAa	p.R66Q		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	66					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GTATTCCTTCGACCTTTTCTG	0.428000													38	52					0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132859900	132859900	+	RNA	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:132859900T>C	ENST00000434551.1	+	0	472					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TCTTTCCTGGTTCTTTTCTGT	0.423000													30	48					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61414086	61414086	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:61414086C>T	ENST00000395348.3	-	5	1334	c.698G>A	c.(697-699)aGt>aAt	p.S233N	SLC16A9_ENST00000395347.1_Missense_Mutation_p.S233N	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	233					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TTCCTCACTACTGTAGCTCTT	0.378000													76	131					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543247	28543247	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:28543247T>G	ENST00000452236.2	-	3	1852	c.1235A>C	c.(1234-1236)aAa>aCa	p.K412T		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	412	Integrase catalytic.				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						CGTAGGCCTTTTAGACTTTAA	0.378000													42	27					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44682288	44682288	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:44682288G>T	ENST00000243964.3	+	20	2717	c.2619G>T	c.(2617-2619)aaG>aaT	p.K873N	SLC12A5_ENST00000454036.2_Missense_Mutation_p.K896N	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	896					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGATGAAGAAGGATCTGACCA	0.547000													58	78					3.89483e-19	4.93493e-19	1	1	0
LANCL2	55915	broad.mit.edu	37	7	55499001	55499001	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:55499001G>A	ENST00000254770.2	+	9	1919	c.1341G>A	c.(1339-1341)tcG>tcA	p.S447S		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	447					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TTGACTCTTCGAAGAGGGATT	0.453000													19	30					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94830721	94830721	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:94830721C>T	ENST00000358746.2	-	35	3935	c.3637G>A	c.(3637-3639)Gga>Aga	p.G1213R		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1213							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ACAACACCTCCCTAGAACAGA	0.313000													33	47					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34931660	34931660	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:34931660A>C	ENST00000356577.4	+	5	6921	c.6446A>C	c.(6445-6447)aAa>aCa	p.K2149T	SON_ENST00000290239.6_Missense_Mutation_p.K2149T|SON_ENST00000300278.4_Missense_Mutation_p.K2149T|SON_ENST00000381692.2_Missense_Mutation_p.K177T	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2149					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGTGAACCCAAACCTATTTTT	0.323000													41	68					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086313	56086313	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:56086313C>A	ENST00000312711.1	+	1	531	c.531C>A	c.(529-531)ttC>ttA	p.F177L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTAGTCATTTCTACTGTGACA	0.348000													35	36					2.68265e-12	3.10203e-12	1	1	0
CXorf67	340602	broad.mit.edu	37	X	51150190	51150190	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:51150190G>A	ENST00000342995.2	+	1	424	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CAGTCCTCACGAAGTTTTTGG	0.657000													13	7					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55050380	55050380	+	Missense_Mutation	SNP	C	C	T	rs150203501		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:55050380C>T	ENST00000371316.3	+	2	168	c.86C>T	c.(85-87)gCg>gTg	p.A29V	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.A29V	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	29	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GCCTTACGTGCGGGGAACGAC	0.637000													29	44					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35631843	35631843	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:35631843C>T	ENST00000287272.2	+	15	2318	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	UNC5D_ENST00000416672.1_Silent_p.F840F|UNC5D_ENST00000453357.2_Silent_p.F830F|UNC5D_ENST00000449677.1_Silent_p.F411F|UNC5D_ENST00000420357.1_Silent_p.F768F|UNC5D_ENST00000404895.2_Silent_p.F835F			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	835					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCACTTTCTTCGCACAAGAGG	0.433000													33	48					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13811853	13811853	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:13811853C>T	ENST00000265104.4	-	44	7414	c.7310G>A	c.(7309-7311)cGc>cAc	p.R2437H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2437	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2437H(1)		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)					GATACAGAAGCGATACAAGTC	0.453000									Kartagener syndrome				26	33					0	0	1	0	0
CHUK	1147	broad.mit.edu	37	10	101964407	101964407	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:101964407G>A	ENST00000370397.7	-	13	1449	c.1363C>T	c.(1363-1365)Ctt>Ttt	p.L455F		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	455	Leucine-zipper.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		TATCTAAGAAGACTTAACCTA	0.289000													17	11					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61985557	61985557	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:61985557G>A	ENST00000409186.1	-	5	4780	c.2675C>T	c.(2674-2676)gCt>gTt	p.A892V	PCDH20_ENST00000409204.4_Missense_Mutation_p.A892V			Q8N6Y1	PCD20_HUMAN	protocadherin 20	865					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TACAGACAGAGCTACTAAGGT	0.418000													16	2					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73042889	73042889	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:73042889C>A	ENST00000604411.1	+	0	30850				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCAAAAGAATCTTTTTTTTAT	0.299000													22	5					3.62473e-10	4.08079e-10	1	1	0
REG3G	130120	broad.mit.edu	37	2	79255352	79255352	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:79255352G>T	ENST00000272324.5	+	6	662	c.478G>T	c.(478-480)Gat>Tat	p.D160Y	REG3G_ENST00000409471.1_Missense_Mutation_p.D114Y|REG3G_ENST00000393897.2_Missense_Mutation_p.D160Y	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	160	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAAGTGGAAAGATTATAACTG	0.493000													20	42					8.10497e-08	8.84284e-08	1	1	0
PHF21A	51317	broad.mit.edu	37	11	46100684	46100684	+	Splice_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:46100684C>A	ENST00000257821.4	-	4	711		c.e4+1		PHF21A_ENST00000418153.2_Splice_Site|PHF21A_ENST00000323180.6_Splice_Site	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A						blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						AGTAGTTTTACCTGTGGATCC	0.279000													21	43					7.41877e-09	8.19551e-09	1	1	0
TPO	7173	broad.mit.edu	37	2	1418194	1418194	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:1418194C>T	ENST00000345913.4	+	2	105	c.14C>T	c.(13-15)gCt>gTt	p.A5V	TPO_ENST00000337415.3_Missense_Mutation_p.A5V|TPO_ENST00000382269.3_Missense_Mutation_p.A5V|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.A5V|TPO_ENST00000539820.1_Missense_Mutation_p.A5V|TPO_ENST00000329066.4_Missense_Mutation_p.A5V|TPO_ENST00000382201.3_Missense_Mutation_p.A5V|TPO_ENST00000382198.1_Missense_Mutation_p.A5V|TPO_ENST00000349624.3_Missense_Mutation_p.A5V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	5					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGAGCGCTCGCTGTGCTGTCT	0.512000													13	10					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241951227	241951227	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:241951227G>T	ENST00000366552.2	+	23	2959	c.2752G>T	c.(2752-2754)Gat>Tat	p.D918Y	WDR64_ENST00000437684.2_Missense_Mutation_p.D751Y	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	918										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACAGACAAGAGATTTCATTTT	0.383000													53	93					4.0181e-32	5.53423e-32	1	1	0
PZP	5858	broad.mit.edu	37	12	9349179	9349179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:9349179C>A	ENST00000261336.2	-	9	998	c.970G>T	c.(970-972)Gaa>Taa	p.E324*	PZP_ENST00000381997.2_Nonsense_Mutation_p.E193*	NM_002864.2	NP_002855.2			pregnancy-zone protein											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						GTCCCCTCTTCTCTGATCCTG	0.373000													38	47					2.19358e-23	2.88279e-23	1	1	0
ZCCHC6	79670	broad.mit.edu	37	9	88943266	88943266	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:88943266T>C	ENST00000375961.2	-	11	1811	c.1597A>G	c.(1597-1599)Aaa>Gaa	p.K533E	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.K410E|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.K533E			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	533					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TGTCCCCTTTTAATCGGCGTT	0.418000													54	58					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73205315	73205315	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:73205315C>T	ENST00000286657.4	-	5	793	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	253					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAATCGTTTTCTCCCGCGTGT	0.493000													140	161					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112590880	112590880	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:112590880T>G	ENST00000341068.3	-	20	3165	c.2393A>C	c.(2392-2394)aAa>aCa	p.K798T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	798					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AGGCCCCAATTTTAAGTCCCT	0.373000													14	16					0	0	1	0	0
HDX	139324	broad.mit.edu	37	X	83724352	83724352	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:83724352C>T	ENST00000297977.5	-	3	490	c.379G>A	c.(379-381)Gac>Aac	p.D127N	HDX_ENST00000373177.2_Missense_Mutation_p.D127N|HDX_ENST00000506585.2_Missense_Mutation_p.D69N	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	127						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATTTGTGTGTCTGTATGTTTG	0.388000													52	6					0	0	1	0	0
OAF	220323	broad.mit.edu	37	11	120082121	120082121	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:120082121A>G	ENST00000328965.4	+	1	647	c.134A>G	c.(133-135)gAg>gGg	p.E45G	OAF_ENST00000531220.1_5'UTR	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	45										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CAGGTGACCGAGGAGAGCCTG	0.726000													5	2					0	0	1	0	0
CDK7	1022	broad.mit.edu	37	5	68572431	68572431	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:68572431G>A	ENST00000502604.1	+	10	1137	c.647G>A	c.(646-648)aGa>aAa	p.R216K	CDK7_ENST00000256443.3_Missense_Mutation_p.R309K|CDK7_ENST00000514676.1_Missense_Mutation_p.R272K			P50613	CDK7_HUMAN	cyclin-dependent kinase 7	309	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		CAGCTGCCAAGACCAAACTGT	0.418000								Nucleotide excision repair (NER)					25	39					0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48602411	48602411	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:48602411C>A	ENST00000340553.3	+	7	1386	c.1125C>A	c.(1123-1125)atC>atA	p.I375I		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	375					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			GTGCAAAAATCTCTGAAAAAG	0.448000													25	30					2.21704e-12	2.5653e-12	1	1	0
MYO15A	51168	broad.mit.edu	37	17	18052553	18052553	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:18052553C>T	ENST00000205890.5	+	34	7318	c.6980C>T	c.(6979-6981)tCg>tTg	p.S2327L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2327	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGCTGGGACTCGGATGAGGAC	0.537000													8	17					0	0	1	0	0
RPF2	84154	broad.mit.edu	37	6	111306252	111306252	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:111306252G>T	ENST00000441448.2	+	2	159	c.67G>T	c.(67-69)Gaa>Taa	p.E23*		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	23						nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TGAGAAGAGAGAACCGAAACT	0.348000													58	64					1.59911e-31	2.19909e-31	1	1	0
KRIT1	889	broad.mit.edu	37	7	91842712	91842712	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:91842712G>T	ENST00000394507.1	-	18	2605	c.1822C>A	c.(1822-1824)Ctc>Atc	p.L608I	KRIT1_ENST00000394503.2_Missense_Mutation_p.L560I|KRIT1_ENST00000412043.2_Missense_Mutation_p.L608I|KRIT1_ENST00000394505.2_Missense_Mutation_p.L608I|KRIT1_ENST00000340022.2_Missense_Mutation_p.L608I	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	608	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGTACTGAGATTCTAAAAA	0.328000													9	19					5.4927e-09	6.08361e-09	1	1	0
AAGAB	79719	broad.mit.edu	37	15	67529057	67529057	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:67529057T>G	ENST00000261880.5	-	2	279	c.175A>C	c.(175-177)Aat>Cat	p.N59H	AAGAB_ENST00000542650.1_5'UTR|AAGAB_ENST00000561452.1_5'UTR	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	59					protein transport	cytoplasm				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						ACACATAGATTGATGTCTGCT	0.378000													17	21					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45405785	45405785	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:45405785A>C	ENST00000371438.1	+	4	1040	c.682A>C	c.(682-684)Aga>Cga	p.R228R	RUNX2_ENST00000359524.5_Silent_p.R214R|RUNX2_ENST00000541979.1_Silent_p.R296R|RUNX2_ENST00000465038.2_Silent_p.R228R|RUNX2_ENST00000371436.6_Silent_p.R228R|RUNX2_ENST00000371432.3_Silent_p.R214R|RUNX2_ENST00000576263.1_Silent_p.R228R|RUNX2_ENST00000352853.5_Silent_p.R296R	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	228	Runt.		R -> G (in CLCD).		negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCGGGAACCCAGAAGTAAGTA	0.403000													60	58					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67670646	67670646	+	Nonsense_Mutation	SNP	G	G	T	rs35257000		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:67670646G>T	ENST00000264010.4	+	11	2335	c.1891G>T	c.(1891-1893)Gaa>Taa	p.E631*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.E303*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	631					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCCTGCCGTAGAAATTGAACC	0.567000													84	132					6.16549e-39	8.65278e-39	1	1	0
AP3M2	10947	broad.mit.edu	37	8	42024874	42024874	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:42024874C>T	ENST00000518421.1	+	8	1287	c.996C>T	c.(994-996)ttC>ttT	p.F332F	AP3M2_ENST00000174653.3_Silent_p.F332F|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000396926.3_Silent_p.F332F	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	332	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			CACACACATTCGACCCAGTCA	0.507000													22	32					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10601974	10601974	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:10601974C>T	ENST00000334534.5	+	7	598	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		AGAAAGAGTTCTCCATGGAGT	0.423000													25	27					0	0	1	0	0
MICU1	10367	broad.mit.edu	37	10	74326502	74326502	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:74326502G>T	ENST00000398761.4	-	2	182	c.50C>A	c.(49-51)tCt>tAt	p.S17Y	MICU1_ENST00000361114.5_Missense_Mutation_p.S17Y|MICU1_ENST00000401998.3_Missense_Mutation_p.S17Y|MICU1_ENST00000604025.1_5'UTR			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	17					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										GTACCATCGAGAACCCACAGC	0.478000													11	7					5.50884e-06	5.83488e-06	1	1	0
QRICH2	84074	broad.mit.edu	37	17	74287695	74287695	+	Missense_Mutation	SNP	C	C	T	rs77546856		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:74287695C>T	ENST00000262765.5	-	4	2794	c.2615G>A	c.(2614-2616)cGa>cAa	p.R872Q		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	872							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAAACTCCTTCGATCTATACC	0.498000													50	66					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81762621	81762621	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:81762621C>A	ENST00000550584.2	-	12	1660	c.1365G>T	c.(1363-1365)gaG>gaT	p.E455D	PPFIA2_ENST00000549325.1_Missense_Mutation_p.E437D|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E455D|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E381D|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E437D|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E356D|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E302D|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E22D|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E455D|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E455D	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	381										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CATTCATTTTCTCTCTTTGCC	0.313000													35	45					1.06647e-15	1.29438e-15	1	1	0
OR5K4	403278	broad.mit.edu	37	3	98072988	98072988	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:98072988T>C	ENST00000354924.2	+	1	291	c.291T>C	c.(289-291)tgT>tgC	p.C97C	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TGTATGAATGTATGGCACAAT	0.453000													157	158					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81972532	81972532	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:81972532G>T	ENST00000336735.4	-	4	510	c.394C>A	c.(394-396)Ctt>Att	p.L132I	SEL1L_ENST00000555824.1_Missense_Mutation_p.L132I	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	132	Fibronectin type-II.|Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TCTAGGAAAAGAAAAGGGAAG	0.443000													31	43					1.08312e-15	1.31309e-15	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79031557	79031557	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:79031557C>T	ENST00000446378.2	+	2	7000	c.6969C>T	c.(6967-6969)atC>atT	p.I2323I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2323						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATTCACTAATCGGTGAGAAAT	0.378000													47	40					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75514530	75514530	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:75514530G>A	ENST00000355774.2	-	2	2044	c.1829C>T	c.(1828-1830)aCt>aTt	p.T610I	MLH3_ENST00000556740.1_Missense_Mutation_p.T610I|MLH3_ENST00000556257.1_Missense_Mutation_p.T610I|MLH3_ENST00000238662.7_Missense_Mutation_p.T610I|MLH3_ENST00000380968.2_5'UTR	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	610					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TACTACATGAGTTATAAAGCC	0.333000								Mismatch excision repair (MMR)					30	40					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42739566	42739566	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:42739566G>A	ENST00000261491.5	+	8	976	c.955G>A	c.(955-957)Gat>Aat	p.D319N	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.D319N|DGKH_ENST00000536612.1_Missense_Mutation_p.D183N|DGKH_ENST00000538674.1_Missense_Mutation_p.D74N|DGKH_ENST00000337343.4_Missense_Mutation_p.D319N|DGKH_ENST00000379274.2_Missense_Mutation_p.D183N	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CACCGATTCCGATGGTATGTA	0.343000													35	38					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84412874	84412874	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:84412874C>A	ENST00000260505.8	-	6	816	c.439G>T	c.(439-441)Gaa>Taa	p.E147*	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	147	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTCTTCAATTCTTTCACATAA	0.343000													23	30					3.08376e-08	3.38111e-08	1	1	0
CHID1	66005	broad.mit.edu	37	11	870430	870430	+	Silent	SNP	G	G	A	rs142808709		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:870430G>A	ENST00000449825.1	-	11	1385	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000429789.2_Silent_p.F312F|CHID1_ENST00000323578.8_Silent_p.F343F|CHID1_ENST00000454838.2_Silent_p.F368F|CHID1_ENST00000436108.2_Silent_p.F343F|CHID1_ENST00000336845.5_Silent_p.F368F|CHID1_ENST00000528581.1_Silent_p.F368F|CHID1_ENST00000323541.7_Silent_p.F373F	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	343					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		TCTTGTACTCGAAGAAGTGCT	0.612000													8	16					0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33271151	33271151	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:33271151C>A	ENST00000269195.5	+	7	1257	c.1154C>A	c.(1153-1155)tCt>tAt	p.S385Y	GALNT1_ENST00000537549.1_Missense_Mutation_p.S325Y	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	385					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TATATAATTTCTCCAGGTTAG	0.398000													27	37					7.76418e-22	1.0077e-21	1	1	0
PRKCE	5581	broad.mit.edu	37	2	46234716	46234716	+	Silent	SNP	C	C	T	rs139526821	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:46234716C>T	ENST00000306156.3	+	9	1506	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G	PRKCE_ENST00000394874.1_Silent_p.G116G	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	393					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GTGAGAATGGCGAAGTCCGGC	0.577000													26	40					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99672876	99672876	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:99672876G>T	ENST00000336292.6	+	5	4428	c.4308G>T	c.(4306-4308)gaG>gaT	p.E1436D	SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1437	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ACTCCCCTGAGCTAGGCAAGT	0.512000													112	147					1.38358e-46	1.9624e-46	1	1	0
MARCH7	64844	broad.mit.edu	37	2	160604859	160604859	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:160604859G>A	ENST00000259050.4	+	5	1180	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	MARCH7_ENST00000539065.1_Missense_Mutation_p.R297Q|MARCH7_ENST00000409591.1_Missense_Mutation_p.R315Q|MARCH7_ENST00000409175.1_Missense_Mutation_p.R353Q	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase		Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TTTCTTAGGCGAAGATGGGGT	0.418000													33	50					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93245998	93245998	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:93245998C>A	ENST00000322349.8	-	8	859	c.595G>T	c.(595-597)Gaa>Taa	p.E199*		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	199					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTGTTTAATTCTTCTGTCAGA	0.299000													34	41					3.48256e-35	4.84542e-35	1	1	0
OR13H1	347468	broad.mit.edu	37	X	130678548	130678548	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:130678548C>A	ENST00000338616.3	+	1	599	c.501C>A	c.(499-501)ttC>ttA	p.F167L		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					GGCTTCACTTCTGTGGGGCTA	0.473000													108	6					4.73232e-52	6.7498e-52	1	1	0
HEPH	9843	broad.mit.edu	37	X	65392426	65392426	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:65392426G>A	ENST00000519389.1	+	3	738	c.559G>A	c.(559-561)Gag>Aag	p.E187K	HEPH_ENST00000419594.1_Missense_Mutation_p.E136K|HEPH_ENST00000441993.2_Missense_Mutation_p.E136K|HEPH_ENST00000374727.3_Missense_Mutation_p.E136K|HEPH_ENST00000343002.2_Missense_Mutation_p.E133K|HEPH_ENST00000336279.5_5'UTR			Q9BQS7	HEPH_HUMAN	hephaestin	133	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGTCTTCTACGAGAAGGACTC	0.478000													50	5					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347869	91347869	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:91347869C>A	ENST00000358859.2	-	1	1084	c.651G>T	c.(649-651)caG>caT	p.Q217H	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CCGTGGCCTTCTGCGCCCGCA	0.647000													88	128					2.13026e-44	3.01584e-44	1	1	0
BNC2	54796	broad.mit.edu	37	9	16436191	16436191	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:16436191G>T	ENST00000380672.4	-	6	2058	c.2001C>A	c.(1999-2001)gtC>gtA	p.V667V	BNC2_ENST00000380667.2_Silent_p.V600V|BNC2_ENST00000380666.2_Silent_p.V667V|BNC2_ENST00000545497.1_Silent_p.V572V	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCATGTCATTGACCACAGCTC	0.463000													30	37					1.7881e-09	1.99706e-09	1	1	0
KIAA0947	23379	broad.mit.edu	37	5	5464165	5464165	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:5464165C>T	ENST00000296564.7	+	13	4940	c.4718C>T	c.(4717-4719)tCg>tTg	p.S1573L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1573										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACTTCAGCGTCGAGCAGAGTT	0.358000													10	23					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164786574	164786574	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:164786574C>T	ENST00000264382.3	-	5	481	c.419G>A	c.(418-420)gGa>gAa	p.G140E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	140	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GATGTCATTTCCAAATAGTGT	0.338000										HNSCC(35;0.089)			41	65					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48719886	48719886	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:48719886G>A	ENST00000316623.5	-	58	7537	c.7082C>T	c.(7081-7083)tCg>tTg	p.S2361L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2361	TB 9.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCAGCATTCCGATTTGGTGAC	0.552000													14	24					0	0	1	0	0
AGPAT6	137964	broad.mit.edu	37	8	41456812	41456812	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:41456812A>C	ENST00000396987.3	+	2	1081	c.154A>C	c.(154-156)Aaa>Caa	p.K52Q		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	52					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			AAGTCTGTTAAAAATCTTTGC	0.408000													40	44					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062092	216062092	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:216062092G>T	ENST00000366943.2	-	41	8285	c.7899C>A	c.(7897-7899)ttC>ttA	p.F2633L	USH2A_ENST00000307340.3_Missense_Mutation_p.F2633L|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2633	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGTATCAGAGAACAGCTCTG	0.498000										HNSCC(13;0.011)			24	38					7.92952e-12	9.11775e-12	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125669092	125669092	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:125669092G>A	ENST00000431078.1	+	23	4065	c.3701G>A	c.(3700-3702)cGa>cAa	p.R1234Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1234					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATGCTGTTCGAAGTGATTCG	0.418000													8	3					0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19823468	19823468	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:19823468A>C	ENST00000344099.3	-	4	760	c.622T>G	c.(622-624)Tat>Gat	p.Y208D		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				GACTGGTAATATATAAAGGTT	0.353000													21	28					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40915710	40915710	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:40915710A>C	ENST00000346991.5	+	11	3716	c.3326A>C	c.(3325-3327)aAa>aCa	p.K1109T	CASC5_ENST00000399668.2_Missense_Mutation_p.K1083T			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1109	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAGAATCATAAAAATGATATG	0.373000													34	30					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58349367	58349367	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:58349367C>T	ENST00000371015.1	+	7	1463	c.996C>T	c.(994-996)agC>agT	p.S332S	PHACTR3_ENST00000355648.4_Silent_p.S291S|PHACTR3_ENST00000395636.2_Silent_p.S291S|PHACTR3_ENST00000361300.4_Silent_p.S221S|PHACTR3_ENST00000395639.4_Silent_p.S221S|PHACTR3_ENST00000541461.1_Silent_p.S291S|PHACTR3_ENST00000359926.3_Silent_p.S329S	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	332						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GAACGTCCAGCGTGGAGCGGG	0.522000													32	34					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138208517	138208517	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:138208517G>T	ENST00000409968.1	+	15	3240	c.3062G>T	c.(3061-3063)aGa>aTa	p.R1021I	THSD7B_ENST00000272643.3_Missense_Mutation_p.R1021I|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R990I					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTGGAGTGAGAATTCGATCC	0.408000													14	16					9.31168e-06	9.8413e-06	1	1	0
GATSL3	652968	broad.mit.edu	37	22	30682314	30682314	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:30682314G>T	ENST00000407689.3	-	6	810	c.681C>A	c.(679-681)ttC>ttA	p.F227L	GATSL3_ENST00000404953.3_Intron|GATSL3_ENST00000459785.1_Intron|RP1-130H16.18_ENST00000447976.1_3'UTR	NM_001037666.2	NP_001032755.1			GATS protein-like 3											breast(1)|endometrium(1)|lung(1)	3						AGAAGGCAAAGAACGTGATGG	0.587000													28	37					5.6714e-07	6.11764e-07	1	1	0
GLDN	342035	broad.mit.edu	37	15	51692680	51692680	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:51692680A>G	ENST00000335449.6	+	8	1068	c.1012A>G	c.(1012-1014)Aca>Gca	p.T338A	GLDN_ENST00000396399.2_Missense_Mutation_p.T214A	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	338	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GATTTGGGTGACAGAGCATTT	0.448000													98	97					0	0	1	0	0
VRK1	7443	broad.mit.edu	37	14	97313616	97313616	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:97313616T>C	ENST00000216639.3	+	5	458	c.309T>C	c.(307-309)cgT>cgC	p.R103R		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	103	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TTCGTACCCGTAAGCTGAAGT	0.323000													14	17					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14354956	14354956	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:14354956C>A	ENST00000571589.1	+	17	3127	c.2955C>A	c.(2953-2955)ttC>ttA	p.F985L	MKL2_ENST00000341243.5_Missense_Mutation_p.F974L|MKL2_ENST00000318282.5_Missense_Mutation_p.F935L|MKL2_ENST00000574045.1_Missense_Mutation_p.F935L	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	974					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAGAAGCTTTCTTGGATGGAA	0.493000													53	52					1.00221e-16	1.23522e-16	1	1	0
LPPR2	64748	broad.mit.edu	37	19	11473304	11473304	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:11473304G>A	ENST00000251473.5	+	7	1155	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.R235Q	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					GCCGAGTACCGAAACCACTGG	0.652000													30	46					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122396388	122396388	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:122396388G>A	ENST00000288912.4	+	12	2795	c.1941G>A	c.(1939-1941)gaG>gaA	p.E647E	WDR66_ENST00000397454.2_Silent_p.E647E	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	647							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GGGTTTTTGAGAAGGGGCTTG	0.473000													126	185					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712670	70712670	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:70712670C>A	ENST00000530196.1	-	0	1848					NR_003951.1																						AGAGGAATGTCTCTCACATTC	0.403000													36	60					5.2432e-18	6.55615e-18	1	1	0
SCARB1	949	broad.mit.edu	37	12	125298763	125298763	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:125298763G>A	ENST00000339570.5	-	4	811	c.615C>T	c.(613-615)ttC>ttT	p.F205F	SCARB1_ENST00000540495.1_Silent_p.F168F|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Silent_p.F205F|SCARB1_ENST00000546215.1_Silent_p.F205F|SCARB1_ENST00000261693.6_Silent_p.F205F|SCARB1_ENST00000376788.1_Silent_p.F105F|SCARB1_ENST00000544327.1_Silent_p.F151F|SCARB1_ENST00000541205.1_Silent_p.F164F	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	205					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CAAATAATCCGAACTTGTCCT	0.527000													44	59					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101451331	101451331	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:101451331G>T	ENST00000341893.3	+	6	1313		c.e6-1		CEP97_ENST00000494050.1_Splice_Site|CEP97_ENST00000327230.4_Splice_Site			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa							centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TTTTGTTCCAGATCTCTTTTT	0.378000													18	15					1.67942e-08	1.84819e-08	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2944670	2944670	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:2944670G>A	ENST00000602557.1	-	50	7981	c.7426C>T	c.(7426-7428)Cga>Tga	p.R2476*	CSMD1_ENST00000520002.1_Nonsense_Mutation_p.R2476*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.R2475*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.R2476*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.R2476*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.R2475*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2476	Sushi 14.					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)		AGTGGGTTTCGTCTACAGGTT	0.512000													26	28					0	0	1	0	0
CHAC2	494143	broad.mit.edu	37	2	53999078	53999078	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:53999078C>T	ENST00000295304.4	+	2	265	c.170C>T	c.(169-171)gCg>gTg	p.A57V	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000263634.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|ASB3_ENST00000406625.2_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	57										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAAGATCCTGCGGTATGGtat	0.274000													49	65					0	0	1	0	0
POU5F1	5460	broad.mit.edu	37	6	31138029	31138029	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:31138029C>T	ENST00000259915.8	-	1	441	c.369G>A	c.(367-369)aaG>aaA	p.K123K	POU5F1_ENST00000441888.3_Intron	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	123					anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						CCTTCTCCAGCTTCACGGCAC	0.652000			T	EWSR1	sarcoma								37	39					0	0	1	0	0
MSANTD3	91283	broad.mit.edu	37	9	103204233	103204233	+	Missense_Mutation	SNP	G	G	A	rs35883941		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:103204233G>A	ENST00000395067.2	+	2	284	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	MSANTD3_ENST00000374885.1_Missense_Mutation_p.E5K	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3											endometrium(2)|lung(2)	4						GCAAAACAACGAAATTATAAA	0.373000													16	23					0	0	1	0	0
DCK	1633	broad.mit.edu	37	4	71892391	71892391	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:71892391C>T	ENST00000504730.1	+	5	757	c.559C>T	c.(559-561)Cga>Tga	p.R187*	DCK_ENST00000286648.5_Silent_p.F225F|DCK_ENST00000504952.1_Silent_p.F225F			P27707	DCK_HUMAN	deoxycytidine kinase	188					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity	p.F225F(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	GAACCAACTTCGATTATCTTC	0.294000													14	14					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134428063	134428063	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:134428063C>T	ENST00000370766.3	-	3	2713	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.A2T	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	2					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TCTCTCATCGCCATTTGCTCT	0.488000													66	7					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577653	9577653	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9577653T>G	ENST00000301480.4	-	10	2183	c.1970A>C	c.(1969-1971)aAa>aCa	p.K657T		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	657					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						TGCATTACATTTATAGGGTTT	0.393000													64	63					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54554977	54554977	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:54554977C>A	ENST00000566473.2	+	15	1911	c.1911C>A	c.(1909-1911)ctC>ctA	p.L637L	ANKFN1_ENST00000318698.2_Silent_p.L637L			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	637										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CCAACATTCTCTGCCACGTGA	0.408000													41	73					4.01765e-15	4.83551e-15	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17228461	17228461	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:17228461C>T	ENST00000261381.6	-	9	1980	c.1896G>A	c.(1894-1896)gaG>gaA	p.E632E	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	632					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGTAGACATTCTCCCAGTAGG	0.582000													54	67					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298109	107298109	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:107298109C>A	ENST00000374781.2	-	1	1028	c.986G>T	c.(985-987)aGa>aTa	p.R329I		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	329					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						ATCCTTATTTCTCAAGCTATA	0.368000													34	44					6.02846e-25	8.0154e-25	1	1	0
SLC6A5	9152	broad.mit.edu	37	11	20668481	20668481	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:20668481G>A	ENST00000525748.1	+	14	2343		c.e14+1		SLC6A5_ENST00000528440.1_Splice_Site	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5						synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CATTTTAACCGTAAGGATTTT	0.403000													35	25					0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48771502	48771502	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:48771502G>T	ENST00000371847.3	-	12	1407	c.1243C>A	c.(1243-1245)Ctt>Att	p.L415I	SPATA6_ENST00000371843.3_Missense_Mutation_p.L399I|SPATA6_ENST00000396199.3_Missense_Mutation_p.L343I	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	415					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTACATAAAAGACTTCTTTTC	0.338000													56	78					4.09106e-26	5.47082e-26	1	1	0
GABRB1	2560	broad.mit.edu	37	4	47405605	47405605	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:47405605C>T	ENST00000295454.3	+	7	1004	c.712C>T	c.(712-714)Cgt>Tgt	p.R238C	GABRB1_ENST00000538619.1_Missense_Mutation_p.R168C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	238					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACTAAGTTTTCGTCTAAAGAG	0.393000													37	42					0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57669725	57669725	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:57669725C>T	ENST00000554048.2	-	4	408	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	137						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		ACACCGATTTCTTTAGCAAGT	0.473000													60	87					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95669335	95669335	+	Missense_Mutation	SNP	G	G	A	rs35569227		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:95669335G>A	ENST00000298912.4	-	9	2464	c.2351C>T	c.(2350-2352)tCg>tTg	p.S784L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	784						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCCTGGCACCGAGGAACTGGA	0.602000													23	30					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229770844	229770844	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:229770844G>A	ENST00000258243.2	+	4	620	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	162						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAGGCAGCCCGAAGGAGCTGT	0.587000													17	31					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40042011	40042011	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:40042011G>T	ENST00000373233.3	-	35	7261	c.7084C>A	c.(7084-7086)Cta>Ata	p.L2362I	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2362					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGCTGCCTTAGCCAGTCAAGC	0.567000													24	43					4.26978e-12	4.92127e-12	1	1	0
SLAMF8	56833	broad.mit.edu	37	1	159802909	159802909	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:159802909C>T	ENST00000289707.5	+	3	760	c.611C>T	c.(610-612)tCc>tTc	p.S204F	SLAMF8_ENST00000368104.4_Missense_Mutation_p.S95F|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	204	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TGCATTGTCTCCAACCCTGTC	0.552000													40	44					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29142215	29142215	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:29142215C>A	ENST00000377167.2	+	1	905	c.803C>A	c.(802-804)tCt>tAt	p.S268Y		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCAGAAAATTCTCCTGATCAG	0.423000													50	57					8.04919e-23	1.05418e-22	1	1	0
PATL1	219988	broad.mit.edu	37	11	59417038	59417038	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:59417038G>T	ENST00000300146.9	-	14	1714	c.1630C>A	c.(1630-1632)Ctc>Atc	p.L544I		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	544	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						AGACTTAGGAGATAACGTCTT	0.448000													11	7					6.40141e-05	6.67685e-05	1	1	0
PTK2	5747	broad.mit.edu	37	8	141756901	141756901	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:141756901C>A	ENST00000522684.1	-	18	1705	c.1476G>T	c.(1474-1476)gaG>gaT	p.E492D	PTK2_ENST00000519419.1_Missense_Mutation_p.E536D|PTK2_ENST00000395218.2_Missense_Mutation_p.E492D|PTK2_ENST00000517887.1_Missense_Mutation_p.E536D|PTK2_ENST00000538769.1_Missense_Mutation_p.E160D|PTK2_ENST00000535192.1_Missense_Mutation_p.E492D|PTK2_ENST00000519465.1_Missense_Mutation_p.E120D|PTK2_ENST00000520151.1_Intron|PTK2_ENST00000521059.1_Missense_Mutation_p.E492D|PTK2_ENST00000340930.3_Missense_Mutation_p.E492D	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	492	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AGACAGGATTCTCTGTGATGA	0.393000													23	28					2.89027e-11	3.30697e-11	1	1	0
SERBP1	26135	broad.mit.edu	37	1	67895686	67895686	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:67895686C>T	ENST00000370994.4	-	1	412	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	SERBP1_ENST00000370990.5_Missense_Mutation_p.A100T|SERBP1_ENST00000370995.2_Missense_Mutation_p.A100T|SERBP1_ENST00000361219.6_Missense_Mutation_p.A100T	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	100					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						TTCTTAAGCGCCACGGGCGGC	0.617000													100	152					0	0	1	0	0
ORC3	23595	broad.mit.edu	37	6	88372791	88372791	+	Missense_Mutation	SNP	C	C	T	rs2307370		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:88372791C>T	ENST00000392844.3	+	17	1810	c.1762C>T	c.(1762-1764)Cgt>Tgt	p.R588C	ORC3_ENST00000257789.4_Missense_Mutation_p.R589C|ORC3_ENST00000546266.1_Missense_Mutation_p.R445C	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	588			R -> C (in dbSNP:rs2307370).		cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CCATGCCCTTCGTGAGCATTT	0.458000													31	37					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27297790	27297790	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:27297790G>A	ENST00000429845.2	-	24	2449	c.2087C>T	c.(2086-2088)tCt>tTt	p.S696F	NEK10_ENST00000357467.2_Missense_Mutation_p.S93F|NEK10_ENST00000341435.5_Missense_Mutation_p.S696F			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	696	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCCTTACCAAGAATACAGGAT	0.353000													15	21					0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105206080	105206080	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:105206080A>C	ENST00000257700.2	+	14	2402	c.2171A>C	c.(2170-2172)gAa>gCa	p.E724A	EFCAB10_ENST00000480514.1_Intron|EFCAB10_ENST00000485614.1_Intron	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	724	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGAGACCAGAAAATTATTTT	0.353000													10	12					0	0	1	0	0
CKB	1152	broad.mit.edu	37	14	103986344	103986344	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:103986344C>T	ENST00000348956.2	-	8	1360	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	335	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TTGGAGACGTCGAAGACCCCG	0.657000													19	16					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737550	152737550	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:152737550C>A	ENST00000367255.5	-	41	6623	c.6022G>T	c.(6022-6024)Gaa>Taa	p.E2008*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E2015*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E2015*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E2008*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E2045*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2008					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGGGTAGGTTCTTTCAATCGC	0.413000										HNSCC(10;0.0054)			6	206					0.0293803	0.0296024	1	1	0
CEP250	11190	broad.mit.edu	37	20	34061229	34061229	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:34061229G>A	ENST00000397527.1	+	13	1960	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	CEP250_ENST00000342580.4_Missense_Mutation_p.E414K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	414					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGGCTGTCAAGAGGCTGTGAA	0.547000													28	31					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110777356	110777356	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:110777356A>C	ENST00000395494.2	+	12	2073	c.1510A>C	c.(1510-1512)Agt>Cgt	p.S504R	ATP2A2_ENST00000308664.6_Missense_Mutation_p.S531R|ATP2A2_ENST00000539276.2_Missense_Mutation_p.S531R			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	531					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TCGAGTTGGAAGTACTAAGGT	0.483000													23	20					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475568	157475568	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:157475568G>A	ENST00000389413.3	-	12	1866	c.1763C>T	c.(1762-1764)gCg>gTg	p.A588V	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A600V|PTPRN2_ENST00000389418.4_Missense_Mutation_p.A617V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A579V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A640V	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	617						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAGGGTGAGCGCGATGAACTT	0.582000													24	28					0	0	1	0	0
F2RL3	9002	broad.mit.edu	37	19	17001213	17001213	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:17001213C>T	ENST00000248076.3	+	2	1269	c.939C>T	c.(937-939)agC>agT	p.S313S		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	313					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGAGCCCCAGCGCCTGGGGCA	0.652000													12	13					0	0	1	0	0
DNAJB6	10049	broad.mit.edu	37	7	157177652	157177652	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:157177652G>T	ENST00000262177.4	+	7	775	c.570G>T	c.(568-570)tcG>tcT	p.S190S	DNAJB6_ENST00000443280.1_Intron|DNAJB6_ENST00000452797.2_Silent_p.S141S|DNAJB6_ENST00000429029.2_Silent_p.S190S	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	190	Interaction with KRT18.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding	p.S190S(1)		central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ACTTCAAATCGATATCAACTT	0.403000													39	47					5.43694e-19	6.87742e-19	1	1	0
SLC26A3	1811	broad.mit.edu	37	7	107431574	107431574	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:107431574C>T	ENST00000340010.5	-	5	673	c.489G>A	c.(487-489)tcG>tcA	p.S163S	SLC26A3_ENST00000422236.2_Silent_p.S128S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	163					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AAGAATTATTCGAGTTGTTAG	0.493000													31	36					0	0	1	0	0
ATP1B1	481	broad.mit.edu	37	1	169096569	169096569	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:169096569G>T	ENST00000367816.1	+	5	1019	c.490G>T	c.(490-492)Gat>Tat	p.D164Y	ATP1B1_ENST00000367815.4_Missense_Mutation_p.D164Y|ATP1B1_ENST00000367813.3_Missense_Mutation_p.D156Y|ATP1B1_ENST00000499679.3_Missense_Mutation_p.D108Y			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	164					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					TGGATTAAATGATGAAACTTA	0.403000													32	35					3.03874e-20	3.89651e-20	1	1	0
RAD51D	5892	broad.mit.edu	37	17	33434419	33434419	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:33434419T>C	ENST00000345365.6	-	4	566	c.311A>G	c.(310-312)gAa>gGa	p.E104G	RAD51D_ENST00000590016.1_Missense_Mutation_p.E124G|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000394589.4_Missense_Mutation_p.E104G|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000360276.3_Missense_Mutation_p.E104G|RAD51D_ENST00000460118.2_Intron|RAD51D_ENST00000335858.7_Intron	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	104					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCCTACAATTTCAGTCACTTC	0.502000								Direct reversal of damage					29	43					0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30090776	30090776	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:30090776C>A	ENST00000338641.4	+	16	2214	c.1773C>A	c.(1771-1773)ttC>ttA	p.F591L	NF2_ENST00000413209.2_Missense_Mutation_p.F161L|NF2_ENST00000361452.4_3'UTR|NF2_ENST00000347330.5_3'UTR|NF2_ENST00000361676.4_3'UTR|NF2_ENST00000353887.4_3'UTR|NF2_ENST00000397789.3_3'UTR|NF2_ENST00000361166.4_3'UTR	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	591					actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GAGTGGCCTTCTTTGAAGAGC	0.577000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				10	12					0.00829132	0.0084208	1	1	0
SCAPER	49855	broad.mit.edu	37	15	76995295	76995295	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:76995295C>A	ENST00000538941.2	-	19	2497	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	SCAPER_ENST00000324767.7_Nonsense_Mutation_p.E766*|SCAPER_ENST00000563290.1_Nonsense_Mutation_p.E766*	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	765	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GCAGCTTTTTCTTTTCTTTGT	0.388000													55	60					1.04682e-39	1.4699e-39	1	1	0
DNAJC24	120526	broad.mit.edu	37	11	31447884	31447884	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:31447884G>T	ENST00000465995.1	+	4	407	c.301G>T	c.(301-303)Gaa>Taa	p.E101*	DNAJC24_ENST00000536040.1_3'UTR	NM_181706.4	NP_859057.4	Q6P3W2	DJC24_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 24	100					protein folding		heat shock protein binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						ATATCTTGAAGAAATGTCTTG	0.264000													14	26					1.5739e-10	1.78284e-10	1	1	0
XAB2	56949	broad.mit.edu	37	19	7693137	7693137	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:7693137G>T	ENST00000358368.4	-	2	136	c.99C>A	c.(97-99)ttC>ttA	p.F33L	XAB2_ENST00000534844.1_Missense_Mutation_p.F30L	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	33					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ATTTGACAGAGAATTGGTTCC	0.577000								Direct reversal of damage;Nucleotide excision repair (NER)					21	33					5.26018e-13	6.14379e-13	1	1	0
CD2AP	23607	broad.mit.edu	37	6	47544323	47544323	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:47544323G>A	ENST00000359314.5	+	7	1249	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	265					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AACAGATACCGAAGGTAAAAT	0.323000													37	55					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85615482	85615482	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:85615482G>A	ENST00000376447.3	-	11	1701	c.1441C>T	c.(1441-1443)Cct>Tct	p.P481S		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	481					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTTATGTCAGGAACCTATTTT	0.343000													8	25					0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62207246	62207246	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:62207246T>C	ENST00000394997.1	+	11	1828	c.1563T>C	c.(1561-1563)tgT>tgC	p.C521C	HIF1A_ENST00000557538.1_Silent_p.C461C|HIF1A_ENST00000323441.6_Silent_p.C520C|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Silent_p.C544C|HIF1A_ENST00000337138.4_Silent_p.C520C|RP11-618G20.1_ENST00000555937.1_RNA			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	520	ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		GTGAATATTGTTTTTATGTGG	0.333000													23	38					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126542691	126542691	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:126542691C>T	ENST00000339582.2	-	6	1869	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	GRM8_ENST00000358373.3_Missense_Mutation_p.R354Q|GRM8_ENST00000444921.2_Missense_Mutation_p.R354Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.R354Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	354					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CACATTTCTTCGATTATTGGC	0.348000										HNSCC(24;0.065)			27	19					0	0	1	0	0
IGHV3-38	28429	broad.mit.edu	37	14	106866645	106866645	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:106866645G>A	ENST00000390618.2	-	0	186																											GAGAGTCTCAGGGACCCCCTA	0.587000													101	115					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187713800	187713800	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:187713800T>C	ENST00000295131.2	-	1	97	c.58A>G	c.(58-60)Agc>Ggc	p.S20G		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	20					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGGTGCCAGCTGAGCCTCTCG	0.627000													16	66					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8221101	8221101	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:8221101C>T	ENST00000539824.1	+	9	1102	c.728C>T	c.(727-729)tCg>tTg	p.S243L	SH3TC1_ENST00000245105.3_Missense_Mutation_p.S319L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	319							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TTCCAGGGCTCGGGGCCCGAA	0.672000													57	44					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849819	54849819	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:54849819G>A	ENST00000291759.4	-	3	259	c.203C>T	c.(202-204)tCg>tTg	p.S68L		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	68	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TATGTGCCTCGACATTGAGTT	0.517000													59	63					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30893065	30893065	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:30893065G>A	ENST00000265299.6	+	12	1744	c.1667G>A	c.(1666-1668)aGc>aAc	p.S556N	AQP1_ENST00000434909.2_5'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.S19N|INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	556										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTCAACAAAGCATTCATCAG	0.488000													11	11					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110032568	110032568	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:110032568G>A	ENST00000369870.3	+	8	1069	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	352										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCCTCCTCCGAGAGTGAATT	0.627000													86	132					0	0	1	0	0
CENPN	55839	broad.mit.edu	37	16	81053750	81053750	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:81053750C>T	ENST00000305850.5	+	6	1190	c.400C>T	c.(400-402)Cga>Tga	p.R134*	CENPN_ENST00000428963.2_Nonsense_Mutation_p.R134*|CMC2_ENST00000565914.1_Intron|CENPN_ENST00000299572.5_Nonsense_Mutation_p.R134*|RP11-303E16.3_ENST00000562315.1_RNA|CENPN_ENST00000569461.1_3'UTR|CENPN_ENST00000393335.3_Nonsense_Mutation_p.R134*|CENPN_ENST00000439957.3_Nonsense_Mutation_p.R114*	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	134					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|large_intestine(5)|lung(4)	10						AGTCTGGATTCGAATTGCCTG	0.433000													23	20					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121293198	121293198	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:121293198G>T	ENST00000297848.3	+	31	3994	c.3724G>T	c.(3724-3726)Gat>Tat	p.D1242Y	COL14A1_ENST00000309791.4_Missense_Mutation_p.D1242Y|COL14A1_ENST00000247781.3_Missense_Mutation_p.D1147Y	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1242	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGTTGAAAAAGATTTTTCATC	0.348000													21	11					0.000175454	0.000181548	1	1	0
C6orf58	352999	broad.mit.edu	37	6	127901547	127901547	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:127901547C>T	ENST00000329722.7	+	3	538	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	176						extracellular region		p.R176C(1)		kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TTCTAGCTGTCGTTCATCCTT	0.413000													27	54					0	0	1	0	0
YPEL4	219539	broad.mit.edu	37	11	57413863	57413863	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:57413863G>A	ENST00000524669.1	-	4	2923	c.201C>T	c.(199-201)tgC>tgT	p.C67C	AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000544993.1_Silent_p.C67C|YPEL4_ENST00000300022.3_Silent_p.C67C|YPEL4_ENST00000534711.1_Silent_p.C67C			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	67						nucleolus				lung(2)|skin(1)	3						CAGCTGGCCCGCAACCCACGT	0.567000													27	46					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93611797	93611797	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:93611797T>G	ENST00000394236.3	-	10	1451	c.1135A>C	c.(1135-1137)Aat>Cat	p.N379H	PROS1_ENST00000407433.1_Missense_Mutation_p.N248H	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	379	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AGACCATTATTAATAACATCA	0.358000													51	51					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39793950	39793950	+	Silent	SNP	C	C	T	rs150914278		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:39793950C>T	ENST00000373272.2	+	14	1857	c.1452C>T	c.(1450-1452)aaC>aaT	p.N484N	PLCG1_ENST00000244007.3_Silent_p.N484N|PLCG1_ENST00000373271.1_Silent_p.N484N	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	484					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				ACTCTGAGAACGACATCAGCA	0.577000													20	42					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60657512	60657512	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:60657512T>G	ENST00000582809.1	+	16	1583	c.880T>G	c.(880-882)Tta>Gta	p.L294V	TLK2_ENST00000346027.5_Missense_Mutation_p.L443V|TLK2_ENST00000542523.1_Missense_Mutation_p.L411V|TLK2_ENST00000326270.9_Missense_Mutation_p.L465V|TLK2_ENST00000343388.7_Missense_Mutation_p.L411V			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	465					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						ATATTTGTTGTTACATCTTTT	0.408000													14	11					0	0	1	0	0
SNPH	9751	broad.mit.edu	37	20	1286491	1286491	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:1286491C>T	ENST00000381867.1	+	7	2052	c.1410C>T	c.(1408-1410)atC>atT	p.I470I	SNPH_ENST00000381873.3_Silent_p.I426I			O15079	SNPH_HUMAN	syntaphilin	426					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCCACTACATCGTGGATCTGC	0.672000													6	6					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7241523	7241523	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:7241523G>A	ENST00000542285.1	-	6	974	c.825C>T	c.(823-825)ctC>ctT	p.L275L				P00736	C1R_HUMAN	complement component 1, r subcomponent	276	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGCTGGTGTCGAGGTCGGGGG	0.557000													4	5					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85968589	85968589	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:85968589G>T	ENST00000372117.3	+	12	1375	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D	CDHR1_ENST00000332904.3_Missense_Mutation_p.E424D|CDHR1_ENST00000440770.2_Missense_Mutation_p.E183D	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	424	Cadherin 4.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TCATTGTGGAGAACTCAGCTG	0.498000													16	16					6.31663e-08	6.90016e-08	1	1	0
RASGRP1	10125	broad.mit.edu	37	15	38810527	38810527	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:38810527C>T	ENST00000310803.5	-	5	664	c.487G>A	c.(487-489)Gag>Aag	p.E163K	RASGRP1_ENST00000450598.2_Missense_Mutation_p.E163K|RASGRP1_ENST00000539159.1_Missense_Mutation_p.E115K|RASGRP1_ENST00000558164.1_Missense_Mutation_p.E163K|RASGRP1_ENST00000559830.1_Missense_Mutation_p.E163K|RASGRP1_ENST00000561180.1_Missense_Mutation_p.E214K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	163	N-terminal Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CAATGTAACTCCTCACCCTTA	0.443000													8	4					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098390	78098390	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:78098390T>G	ENST00000370801.3	-	5	1125	c.650A>C	c.(649-651)gAc>gCc	p.D217A	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AGGCTGACAGTCATCACAGTT	0.413000													48	62					0	0	1	0	0
PLGRKT	55848	broad.mit.edu	37	9	5431904	5431904	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:5431904C>T	ENST00000223864.2	-	3	295	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	PLGRKT_ENST00000482696.1_5'UTR	NM_018465.3	NP_060935.2	Q9HBL7	CI046_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	25						integral to membrane											TACCTGAAGTCGAGCATTCAT	0.318000													6	6					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19490812	19490812	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:19490812C>A	ENST00000396229.2	+	14	2978	c.2229C>A	c.(2227-2229)ttC>ttA	p.F743L	TMC5_ENST00000564959.1_Missense_Mutation_p.F426L|TMC5_ENST00000381414.4_Missense_Mutation_p.F743L|TMC5_ENST00000541464.1_Missense_Mutation_p.F691L|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Missense_Mutation_p.F743L|TMC5_ENST00000219821.5_Missense_Mutation_p.F497L|TMC5_ENST00000561503.1_Missense_Mutation_p.F384L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	743						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATTTTGTGTTCTCTTTAGTCA	0.473000													86	123					2.3666e-43	3.34156e-43	1	1	0
PNPLA7	375775	broad.mit.edu	37	9	140444638	140444638	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:140444638C>A	ENST00000406427.1	-	1	348	c.12G>T	c.(10-12)gaG>gaT	p.E4D	PNPLA7_ENST00000277531.4_Missense_Mutation_p.E4D	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	4					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGTCATCTTTCTCTTCCTCCA	0.547000													54	68					1.95512e-22	2.55367e-22	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11058273	11058273	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:11058273C>A	ENST00000470054.1	-	0	374									B melanoma antigen family, member 2															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)		GGGTACATTTCTCTTCACAGC	0.418000													5	160					2.7689e-08	3.04151e-08	1	1	0
NEK5	341676	broad.mit.edu	37	13	52660445	52660445	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:52660445C>A	ENST00000355568.4	-	16	1586	c.1447G>T	c.(1447-1449)Gaa>Taa	p.E483*		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	483							ATP binding|metal ion binding|protein serine/threonine kinase activity			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)		TTTCTAATTTCTTTCATGTCA	0.368000													31	43					4.15321e-07	4.49089e-07	1	1	0
AHRR	57491	broad.mit.edu	37	5	422862	422862	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:422862A>C	ENST00000316418.5	+	6	516	c.472A>C	c.(472-474)Aac>Cac	p.N158H	AHRR_ENST00000512529.1_Missense_Mutation_p.N4H|AHRR_ENST00000506456.1_Missense_Mutation_p.N14H|AHRR_ENST00000505113.1_Missense_Mutation_p.N158H	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	158	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AATGCACCAGAACATTTATGA	0.532000													44	36					0	0	1	0	0
TSPAN5	10098	broad.mit.edu	37	4	99397363	99397363	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:99397363A>C	ENST00000305798.3	-	7	1120	c.718T>G	c.(718-720)Ttc>Gtc	p.F240V	TSPAN5_ENST00000505184.1_Missense_Mutation_p.F169V	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	240						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		ATGCCTATGAAAATACCAGCA	0.468000													13	52					0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25633893	25633893	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:25633893C>T	ENST00000262394.2	+	5	1012	c.696C>T	c.(694-696)gtC>gtT	p.V232V	WSB1_ENST00000427287.2_Silent_p.V201V|WSB1_ENST00000583193.1_Silent_p.V42V|WSB1_ENST00000579733.1_Silent_p.V86V|WSB1_ENST00000581185.1_Silent_p.V232V|WSB1_ENST00000348811.2_Silent_p.V86V	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	232					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TGTGTTCAGTCGGAGCCAGTA	0.373000													20	20					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56189412	56189412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:56189412C>T	ENST00000399503.3	+	20	4444	c.4444C>T	c.(4444-4446)Cga>Tga	p.R1482*		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1482	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TCCTGGTTTACGAGATGTGGC	0.453000													19	27					0	0	1	0	0
ITM2B	9445	broad.mit.edu	37	13	48833030	48833030	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:48833030G>A	ENST00000378565.5	+	5	865	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	ITM2B_ENST00000378549.5_Missense_Mutation_p.R115Q	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	221	BRICHOS.				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TTTATTTATCGACTGTGTCAT	0.363000													5	40					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95598999	95598999	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:95598999C>T	ENST00000526495.1	-	5	451	c.160G>A	c.(160-162)Gca>Aca	p.A54T	DICER1_ENST00000541352.1_Missense_Mutation_p.A54T|DICER1_ENST00000393063.1_Missense_Mutation_p.A54T|DICER1_ENST00000343455.3_Missense_Mutation_p.A54T|DICER1_ENST00000527414.1_Missense_Mutation_p.A54T			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	54	Helicase ATP-binding.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCCAGAGCTGCTTCAAGCAGT	0.353000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				37	50					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42287580	42287580	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:42287580T>G	ENST00000302904.4	-	15	2030	c.1538A>C	c.(1537-1539)aAa>aCa	p.K513T	UBTF_ENST00000526094.1_Missense_Mutation_p.K476T|UBTF_ENST00000533177.1_Missense_Mutation_p.K476T|UBTF_ENST00000343638.5_Missense_Mutation_p.K476T|UBTF_ENST00000393606.3_Missense_Mutation_p.K476T|UBTF_ENST00000529383.1_Missense_Mutation_p.K513T|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000527034.1_Missense_Mutation_p.K476T|UBTF_ENST00000436088.1_Missense_Mutation_p.K513T			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	513					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TTCCATGGCTTTCAAGGCCTT	0.527000											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	75	106					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21937963	21937963	+	Silent	SNP	C	C	T	rs140749955		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:21937963C>T	ENST00000542643.2	-	14	1127	c.825G>A	c.(823-825)acG>acA	p.T275T	RAP1GAP_ENST00000290101.4_Silent_p.T339T|RAP1GAP_ENST00000374763.2_Silent_p.T275T|RAP1GAP_ENST00000374761.2_Silent_p.T306T|RAP1GAP_ENST00000374765.4_Silent_p.T275T	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	275	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CGTCCCCTTCCGTGTATGGCA	0.622000													27	15					0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54563624	54563624	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:54563624C>A	ENST00000251636.5	-	22	3469	c.3321G>T	c.(3319-3321)gaG>gaT	p.E1107D	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1107							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AAGGAGACTTCTCTGTCATAA	0.373000													25	31					4.59853e-10	5.17056e-10	1	1	0
UMODL1	89766	broad.mit.edu	37	21	43543261	43543261	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:43543261G>A	ENST00000400424.2	+	17	3327		c.e17+1		UMODL1_ENST00000400427.1_Splice_Site|UMODL1_ENST00000408910.2_Splice_Site|UMODL1_ENST00000400423.2_Splice_Site|UMODL1_ENST00000408989.2_Splice_Site	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1							cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CATGCAGAGCGTAAGACCAGG	0.627000													23	23					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198108	20198108	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:20198108A>G	ENST00000400331.5	-	5	2184	c.1876T>C	c.(1876-1878)Tca>Cca	p.S626P	MACC1_ENST00000332878.4_Missense_Mutation_p.S626P|MACC1_ENST00000589011.1_Missense_Mutation_p.S626P	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	626					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ACACTATCTGACATAAACATT	0.358000													61	60					0	0	1	0	0
MB	4151	broad.mit.edu	37	22	36006937	36006937	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:36006937G>A	ENST00000397326.2	-	2	510	c.312C>T	c.(310-312)taC>taT	p.Y104Y	MB_ENST00000406324.1_Silent_p.Y104Y|MB_ENST00000401702.1_Silent_p.Y49Y|MB_ENST00000359787.1_Silent_p.Y104Y|MB_ENST00000397328.1_Silent_p.Y104Y	NM_005368.2	NP_005359.1	P02144	MYG_HUMAN	myoglobin	104							heme binding|oxygen transporter activity			lung(1)	1						ctACCTCCAGGTACTTCACGG	0.602000													22	13					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230902146	230902146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:230902146G>A	ENST00000295190.4	-	5	1941	c.1483C>T	c.(1483-1485)Cga>Tga	p.R495*		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	495						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TCTATAATTCGAATGCACGGC	0.353000													19	1					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66460410	66460410	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:66460410C>T	ENST00000404260.3	+	29	5720	c.5412C>T	c.(5410-5412)atC>atT	p.I1804I	MAST4_ENST00000261569.7_Silent_p.I1607I|MAST4_ENST00000403666.1_Silent_p.I1612I|MAST4_ENST00000405643.1_Silent_p.I1622I|MAST4_ENST00000403625.2_Silent_p.I1801I			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1804						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGAAGCCGATCGAGGGCACTC	0.592000													54	65					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14747026	14747026	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:14747026C>A	ENST00000380881.4	-	35	6851	c.6036G>T	c.(6034-6036)aaG>aaT	p.K2012N	FREM1_ENST00000380894.1_Missense_Mutation_p.K547N|FREM1_ENST00000422223.2_Missense_Mutation_p.K2011N|FREM1_ENST00000380880.3_Missense_Mutation_p.K2011N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2011					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAGTGCAGTTCTTTGGAAATG	0.453000													14	9					0.00185496	0.0018962	1	1	0
HECTD3	79654	broad.mit.edu	37	1	45472633	45472633	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:45472633G>T	ENST00000372172.4	-	12	1682	c.1611C>A	c.(1609-1611)atC>atA	p.I537I	HECTD3_ENST00000372168.3_Silent_p.I147I	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	537	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CTTGGTCAATGATGCCTTCTG	0.522000													17	21					3.57192e-18	4.47897e-18	1	1	0
SLC5A7	60482	broad.mit.edu	37	2	108626705	108626705	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:108626705C>T	ENST00000264047.2	+	9	1407	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	SLC5A7_ENST00000540517.1_Silent_p.I272I|SLC5A7_ENST00000409059.1_Silent_p.I377I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	377					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ACAAAGAAATCGTTTGGGTTA	0.443000													22	41					0	0	1	0	0
TCEANC2	127428	broad.mit.edu	37	1	54534497	54534497	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:54534497G>T	ENST00000234827.1	+	3	371	c.171G>T	c.(169-171)gaG>gaT	p.E57D	TCEANC2_ENST00000498272.1_Intron|TCEANC2_ENST00000371331.1_Missense_Mutation_p.E87D	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	57	TFIIS N-terminal.				transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|lung(3)|pancreas(1)	5						AAACCAAAGAGAATCTTGTTG	0.333000													20	27					3.62473e-10	4.08079e-10	1	1	0
ZMIZ1	57178	broad.mit.edu	37	10	81061875	81061875	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:81061875C>T	ENST00000334512.5	+	18	2603	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	677					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCACCTCTTCGTGCTGCAGC	0.632000													82	102					0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784670	32784670	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:32784670C>T	ENST00000342743.5	+	2	854	c.489C>T	c.(487-489)gaC>gaT	p.D163D		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	163						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						GATACCTGGACGGCTACTGCC	0.602000													21	20					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679290	100679290	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:100679290C>A	ENST00000306151.4	+	3	4657	c.4593C>A	c.(4591-4593)atC>atA	p.I1531I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1531	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTTCTGAAATCAACAGCCTTT	0.483000													172	222					1.92159e-75	2.76669e-75	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168105697	168105697	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:168105697T>G	ENST00000409195.1	+	9	7884	c.7795T>G	c.(7795-7797)Tct>Gct	p.S2599A	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2377A|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2599A|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2424					actin cytoskeleton organization	cell junction	actin binding			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						GGTTTCCCTATCTGGAATTGA	0.408000													57	58					0	0	1	0	0
GYPB	2994	broad.mit.edu	37	4	144922437	144922437	+	Splice_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:144922437C>A	ENST00000283126.7	-	2	93		c.e2-1		GYPB_ENST00000429670.2_Splice_Site|GYPB_ENST00000513128.1_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000502664.1_Splice_Site|GYPB_ENST00000510196.2_Splice_Site					glycophorin B (MNS blood group)											breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					CTCACAATTTCTGTATAAAAT	0.408000													25	87					9.39395e-14	1.10812e-13	1	1	0
SMARCD2	6603	broad.mit.edu	37	17	61914375	61914375	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:61914375C>T	ENST00000448276.2	-	4	739	c.474G>A	c.(472-474)gcG>gcA	p.A158A	SMARCD2_ENST00000323347.10_Silent_p.A110A|SMARCD2_ENST00000225742.9_Silent_p.A83A	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	158					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						GATCCATGTACGCCTGAGACT	0.542000													44	39					0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40364209	40364209	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:40364209C>T	ENST00000344138.4	+	6	886	c.623C>T	c.(622-624)gCc>gTc	p.A208V	GRAP2_ENST00000399090.2_Missense_Mutation_p.A95V|GRAP2_ENST00000540310.1_Missense_Mutation_p.A142V|GRAP2_ENST00000544756.1_Missense_Mutation_p.A136V|GRAP2_ENST00000543252.1_Missense_Mutation_p.A168V|GRAP2_ENST00000407075.3_Missense_Mutation_p.A208V	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	208					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						ccgcaatatgccccagcgccc	0.617000													9	20					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46898849	46898849	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:46898849G>A	ENST00000378623.1	-	23	3420	c.3178C>T	c.(3178-3180)Cgc>Tgc	p.R1060C		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1060					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.R1060C(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GAGACCATGCGAATGTCTATC	0.498000													35	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179591848	179591848	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179591848G>A	ENST00000589042.1	-	69	20468	c.20244C>T	c.(20242-20244)agC>agT	p.S6748S	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S5504S|TTN_ENST00000591111.1_Silent_p.S6431S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6431	Ig-like 49.						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)			TGCAGCTTGTGCTGCCAGCGG	0.428000													51	70					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40040669	40040669	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:40040669G>T	ENST00000324616.5	+	5	517	c.363G>T	c.(361-363)aaG>aaT	p.K121N	C12orf40_ENST00000398716.1_Missense_Mutation_p.K44N|C12orf40_ENST00000405531.3_Missense_Mutation_p.K121N	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	121										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TAAGTAGCAAGGAAGATCTTG	0.289000													14	24					4.14922e-12	4.78853e-12	1	1	0
MUC16	94025	broad.mit.edu	37	19	9057584	9057584	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9057584C>A	ENST00000397910.4	-	3	30065	c.29862G>T	c.(29860-29862)atG>atT	p.M9954I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9956	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						TGGTGATGGTCATTTGTGTTG	0.498000													127	145					2.36156e-58	3.38371e-58	1	1	0
NHS	4810	broad.mit.edu	37	X	17744064	17744064	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:17744064C>T	ENST00000380060.3	+	6	2113	c.1775C>T	c.(1774-1776)gCt>gTt	p.A592V	NHS_ENST00000398097.3_Missense_Mutation_p.A436V	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	592						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)					ATCTCCACGGCTGGCGTCCTC	0.597000													56	6					0	0	1	0	0
FDPS	2224	broad.mit.edu	37	1	155289655	155289655	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:155289655A>C	ENST00000356657.6	+	10	1157	c.995A>C	c.(994-996)aAa>aCa	p.K332T	RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.K332T|FDPS_ENST00000447866.1_Missense_Mutation_p.K266T	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	332					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CAGGACAACAAATGCAGCTGG	0.572000													15	229					0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103564043	103564043	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:103564043G>A	ENST00000285402.3	+	1	244	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	30					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			ATGCATCGACGAATTTAGCAC	0.493000													70	101					0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113831808	113831808	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:113831808C>T	ENST00000512097.3	+	9	2687	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	KCNN2_ENST00000503706.1_Missense_Mutation_p.R209W|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000264773.3_Missense_Mutation_p.R557W			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	557						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CAATGCTGAGCGGTCCCGGTC	0.527000													56	80					0	0	1	0	0
DCAF17	80067	broad.mit.edu	37	2	172306414	172306414	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:172306414G>T	ENST00000375255.3	+	5	811	c.484G>T	c.(484-486)Gaa>Taa	p.E162*	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Nonsense_Mutation_p.E162*	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	162						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						CACTCCTCAAGAAGTCATTGC	0.343000													21	29					1.42536e-11	1.63612e-11	1	1	0
OR4A15	81328	broad.mit.edu	37	11	55135444	55135444	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:55135444G>A	ENST00000314706.3	+	1	85	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ACCTTCAGAAGAACACATGAA	0.388000													17	17					0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54105820	54105820	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:54105820G>A	ENST00000262059.4	-	15	2346	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.R577C|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.R662C|CALCOCO1_ENST00000548263.1_3'UTR	NM_020898.2	NP_065949.1	Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	662	C-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GCAGGAAAGCGCTCCTTACAG	0.542000													6	16					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103061834	103061834	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:103061834G>A	ENST00000306312.3	-	3	389	c.128C>T	c.(127-129)gCg>gTg	p.A43V	SLC26A5_ENST00000393727.1_Missense_Mutation_p.A43V|SLC26A5_ENST00000356767.4_Missense_Mutation_p.A43V|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A43V|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A43V|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A43V|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A43V|SLC26A5_ENST00000339444.6_Missense_Mutation_p.A43V|SLC26A5_ENST00000393735.2_Missense_Mutation_p.A43V	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	43					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CAGCTTATCCGCAATGGAATC	0.438000													16	35					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25819327	25819327	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:25819327A>C	ENST00000244527.4	-	6	700	c.585T>G	c.(583-585)tcT>tcG	p.S195S	SLC17A1_ENST00000468082.1_Silent_p.S195S|SLC17A1_ENST00000427328.1_Silent_p.S195S|SLC17A1_ENST00000476801.1_Silent_p.S195S	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	195					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GCCAGCCCAGAGATTCACAGA	0.368000													21	14					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099611	133099611	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:133099611C>A	ENST00000515826.1	+	3	1179	c.1056C>A	c.(1054-1056)gtC>gtA	p.V352V	TMEM108_ENST00000393130.3_Silent_p.V352V|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Silent_p.V352V			Q6UXF1	TM108_HUMAN	transmembrane protein 108	352						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTCTGGGGTCTTCACGGCTG	0.632000													45	39					2.47872e-24	3.28016e-24	1	1	0
CDH5	1003	broad.mit.edu	37	16	66426249	66426249	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:66426249C>A	ENST00000341529.3	+	7	1328	c.1180C>A	c.(1180-1182)Ctg>Atg	p.L394M	CDH5_ENST00000563425.2_Missense_Mutation_p.L394M	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	394	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TGGCACAGTGCTGGCCATGGA	0.532000													66	59					9.74713e-16	1.18625e-15	1	1	0
ZRANB1	54764	broad.mit.edu	37	10	126631490	126631490	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:126631490G>T	ENST00000359653.4	+	1	799	c.428G>T	c.(427-429)aGa>aTa	p.R143I		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	143					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TACAATGATAGAAATAAACTG	0.443000													30	38					9.39395e-14	1.10812e-13	1	1	0
POPDC3	64208	broad.mit.edu	37	6	105609662	105609662	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:105609662G>T	ENST00000254765.3	-	2	401	c.123C>A	c.(121-123)ttC>ttA	p.F41L	BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	41						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TGCCACCCATGAAACCTACTA	0.478000													48	65					5.34276e-22	6.93765e-22	1	1	0
ZNF271P	10778	broad.mit.edu	37	18	32887048	32887048	+	RNA	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:32887048T>G	ENST00000399070.3	+	0	1442					NR_024565.1|NR_024566.1															large_intestine(3)|lung(9)	12						TCCAACCTTATTCTTCATCAG	0.383000													49	52					0	0	1	0	0
SNORD113-5	767565	broad.mit.edu	37	14	101404528	101404528	+	RNA	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:101404528T>A	ENST00000607261.1	+	0	5					NR_003233.1																						CTAGCCTGGATCAATGATGAG	0.358000													69	62					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13773333	13773333	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:13773333A>C	ENST00000380567.1	+	13	1645	c.773A>C	c.(772-774)cAa>cCa	p.Q258P	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.Q398P|OFD1_ENST00000380550.3_Missense_Mutation_p.Q358P			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	398					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GAACTCAATCAATCTGTAAAT	0.299000													25	7					0	0	1	0	0
ZNF789	285989	broad.mit.edu	37	7	99084233	99084233	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:99084233G>T	ENST00000331410.5	+	5	670	c.400G>T	c.(400-402)Gaa>Taa	p.E134*	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TAAGTGTAAAGAATTTGTGGA	0.373000													45	56					2.81731e-22	3.67173e-22	1	1	0
UMODL1	89766	broad.mit.edu	37	21	43536027	43536027	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:43536027T>G	ENST00000400424.2	+	14	2587	c.2191T>G	c.(2191-2193)Tac>Gac	p.Y731D	UMODL1_ENST00000400427.1_Missense_Mutation_p.Y859D|UMODL1_ENST00000408910.2_Missense_Mutation_p.Y803D|UMODL1_ENST00000408989.2_Missense_Mutation_p.Y931D	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		Fibronectin type-III 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AAATGTCAGGTACTCAGAATC	0.438000													29	38					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87971341	87971341	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:87971341A>C	ENST00000369577.3	+	8	8037	c.7994A>C	c.(7993-7995)aAt>aCt	p.N2665T	ZNF292_ENST00000339907.4_Missense_Mutation_p.N2660T	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGCAGTGATAATGTAAAAATT	0.368000													11	8					0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27528594	27528594	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:27528594G>A	ENST00000301904.3	+	6	1567	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q	SCARA3_ENST00000337221.4_Intron	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	516					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GTTGGCCCTCGAGGGTTCCCA	0.672000													19	22					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230916261	230916261	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:230916261G>A	ENST00000354537.1	+	10	1292	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	CAPN9_ENST00000271971.2_Missense_Mutation_p.E430K|RP11-99J16__A.2_ENST00000428480.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.E367K|RP11-99J16__A.2_ENST00000452640.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	430	Domain III.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TGACAAAGACGAACACCTGAA	0.517000													46	60					0	0	1	0	0
FAM183B	340286	broad.mit.edu	37	7	38725475	38725475	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:38725475T>G	ENST00000409072.3	-	2	1065	c.131A>C	c.(130-132)aAg>aCg	p.K44T						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						CCTGTGAACCTTGCGCAGGGG	0.527000													40	39					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60182929	60182929	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:60182929C>T	ENST00000300187.6	+	5	765	c.488C>T	c.(487-489)tCg>tTg	p.S163L	MS4A14_ENST00000531787.1_Missense_Mutation_p.S51L|MS4A14_ENST00000531783.1_Missense_Mutation_p.S196L|MS4A14_ENST00000395005.2_Missense_Mutation_p.S146L|MS4A14_ENST00000395001.1_3'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	163						integral to membrane	receptor activity	p.S163L(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TTCTTGCCTTCGGATGTTACT	0.323000													19	37					0	0	1	0	0
MMP7	4316	broad.mit.edu	37	11	102395704	102395704	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:102395704G>A	ENST00000260227.4	-	4	628	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	192					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		CATCCTCATCGAAGTGAGCAT	0.502000													22	29					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123806092	123806092	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:123806092A>G	ENST00000420886.2	-	16	2312	c.2313T>C	c.(2311-2313)gaT>gaC	p.D771D	SBNO1_ENST00000602398.1_Silent_p.D771D|SBNO1_ENST00000267176.4_Silent_p.D770D|SBNO1_ENST00000602750.1_Silent_p.D770D	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	771							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CATTTTCATCATCCTCATTAG	0.318000													30	21					0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74716683	74716683	+	Splice_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:74716683C>A	ENST00000308807.7	-	6	1285	c.822G>T	c.(820-822)gtG>gtT	p.V274V	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	274	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						GAGGCGGAGTCACTGGTGGAA	0.552000													24	22					4.26978e-12	4.92127e-12	1	1	0
IL31RA	133396	broad.mit.edu	37	5	55168261	55168261	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:55168261T>A	ENST00000396834.1	+	6	875	c.379T>A	c.(379-381)Tgg>Agg	p.W127R	IL31RA_ENST00000354961.4_Missense_Mutation_p.W127R|IL31RA_ENST00000359040.5_Missense_Mutation_p.W146R|IL31RA_ENST00000447346.2_Missense_Mutation_p.W146R|IL31RA_ENST00000490985.1_Missense_Mutation_p.W4R|IL31RA_ENST00000297015.3_Missense_Mutation_p.W4R|IL31RA_ENST00000396836.2_Missense_Mutation_p.W146R	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	114	Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TATGACATACTGGAGATTAGA	0.343000													29	40					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87179797	87179797	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:87179797C>T	ENST00000265724.3	-	12	1628	c.1211G>A	c.(1210-1212)cGa>cAa	p.R404Q	ABCB1_ENST00000543898.1_Missense_Mutation_p.R340Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	404	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AACTTCTTTTCGAGATGGGTA	0.323000													27	26					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153839	101153839	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:101153839C>A	ENST00000428847.2	-	2	959	c.643G>T	c.(643-645)Gaa>Taa	p.E215*		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	215					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GAAGTCACTTCTTCTGTTTTT	0.338000													24	13					2.52088e-20	3.23558e-20	1	1	0
SENP1	29843	broad.mit.edu	37	12	48468386	48468386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:48468386G>A	ENST00000004980.5	-	8	1139	c.661C>T	c.(661-663)Cga>Tga	p.R221*	SENP1_ENST00000551330.1_Nonsense_Mutation_p.R221*|SENP1_ENST00000448372.1_Nonsense_Mutation_p.R221*|SENP1_ENST00000549595.1_Nonsense_Mutation_p.R221*|SENP1_ENST00000549518.1_Nonsense_Mutation_p.R221*|SENP1_ENST00000339976.6_3'UTR			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	221					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CTAAGACATCGAGACCTAGCA	0.333000													9	16					0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187419767	187419767	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:187419767C>T	ENST00000358241.1	-	1	578	c.150G>A	c.(148-150)caG>caA	p.Q50Q		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	50					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CTGAGGCGTGCTGCTCCAGGT	0.617000													55	95					0	0	1	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95116019	95116019	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:95116019T>G	ENST00000379982.3	+	9	1854	c.1346T>G	c.(1345-1347)tTt>tGt	p.F449C	RHOBTB3_ENST00000504179.1_Missense_Mutation_p.F80C|GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	449	BTB 2.|Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCAGCCATGTTTAATGGTAAT	0.453000													25	20					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108115600	108115600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:108115600C>T	ENST00000278616.4	+	7	1133	c.748C>T	c.(748-750)Cga>Tga	p.R250*	ATM_ENST00000452508.2_Nonsense_Mutation_p.R250*	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	250			R -> Q.		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R250*(4)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTTTCGAATTCGAGTGTGTGA	0.338000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			40	31					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167138314	167138314	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:167138314G>A	ENST00000303354.6	-	13	2322	c.1982C>T	c.(1981-1983)aCg>aTg	p.T661M	SCN9A_ENST00000409672.1_Missense_Mutation_p.T649M|SCN9A_ENST00000409435.1_Missense_Mutation_p.T660M|SCN9A_ENST00000375387.4_Missense_Mutation_p.T661M|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	660						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTGATTGGTCGTGCCCTAAAA	0.343000													25	39					0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4117504	4117504	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:4117504G>A	ENST00000262948.5	-	2	469	c.216C>T	c.(214-216)ttC>ttT	p.F72F	MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	72	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|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|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATCCTTTCGAAGTCATCGT	0.597000													31	55					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37179534	37179534	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:37179534C>A	ENST00000274258.7	-	29	5976	c.2389G>T	c.(2389-2391)Gaa>Taa	p.E797*	C5orf42_ENST00000425232.2_Nonsense_Mutation_p.E1917*|C5orf42_ENST00000508244.1_Nonsense_Mutation_p.E1917*			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1917										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCAACAGATTCTTCAATGTCT	0.353000													24	24					3.5997e-14	4.2784e-14	1	1	0
COL5A2	1290	broad.mit.edu	37	2	189963478	189963478	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:189963478C>T	ENST00000374866.3	-	5	651	c.377G>A	c.(376-378)gGc>gAc	p.G126D		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	126					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACCACGTATGCCTGTTACCTA	0.343000													9	46					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89225997	89225997	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:89225997G>T	ENST00000370521.3	+	3	801	c.442G>T	c.(442-444)Gaa>Taa	p.E148*	PKN2_ENST00000370513.5_Nonsense_Mutation_p.E148*|PKN2_ENST00000316005.7_Nonsense_Mutation_p.E148*|PKN2_ENST00000370505.3_5'UTR	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	148					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ATTGGATATAGAACTTAAAGT	0.333000													7	99					2.0095e-06	2.14548e-06	1	1	0
CPSF2	53981	broad.mit.edu	37	14	92608528	92608528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:92608528C>T	ENST00000298875.4	+	8	967	c.682C>T	c.(682-684)Cga>Tga	p.R228*		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	228					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGAAACACTTCGAGGTGATGG	0.373000													56	55					0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72741462	72741462	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:72741462C>T	ENST00000392614.4	+	9	692	c.599C>T	c.(598-600)gCc>gTc	p.A200V	RAB37_ENST00000392612.3_Missense_Mutation_p.A158V|RAB37_ENST00000528438.1_Missense_Mutation_p.A168V|RAB37_ENST00000340415.3_3'UTR|RAB37_ENST00000392615.5_Missense_Mutation_p.A163V|RAB37_ENST00000392613.5_Missense_Mutation_p.A195V|RAB37_ENST00000392610.1_3'UTR|RAB37_ENST00000402449.4_Missense_Mutation_p.A188V	NM_001163989.1	NP_001157461.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	195					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AAATACCGGGCCGGGCATCAG	0.632000											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	50					0	0	1	0	0
NKIRAS1	28512	broad.mit.edu	37	3	23942341	23942341	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:23942341C>A	ENST00000443659.2	-	3	1071	c.294G>T	c.(292-294)gaG>gaT	p.E98D	NKIRAS1_ENST00000437230.1_Missense_Mutation_p.E98D|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.E98D|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.E98D|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.E98D|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.E98D|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.E98D|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.E98D			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	98					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						TCTTCAGAAGCTCCACTCTTT	0.353000													30	30					1.75199e-13	2.05755e-13	1	1	0
SDAD1	55153	broad.mit.edu	37	4	76891496	76891496	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:76891496G>A	ENST00000356260.5	-	10	967	c.849C>T	c.(847-849)aaC>aaT	p.N283N	SDAD1_ENST00000395711.4_Silent_p.N246N|SDAD1_ENST00000513089.1_5'UTR	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	283					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGGCTGAAAAGTTAAACACCT	0.378000													22	32					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81259149	81259149	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:81259149C>A	ENST00000555265.1	-	14	1890	c.1515G>T	c.(1513-1515)gaG>gaT	p.E505D	CEP128_ENST00000281129.3_Missense_Mutation_p.E505D			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	505						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CAGATTGTTTCTCCAACGCTC	0.418000													56	85					5.82089e-37	8.12852e-37	1	1	0
IQUB	154865	broad.mit.edu	37	7	123143413	123143413	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:123143413T>G	ENST00000466202.1	-	4	1113	c.537A>C	c.(535-537)aaA>aaC	p.K179N	IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.K179N|IQUB_ENST00000324698.6_Missense_Mutation_p.K179N	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	179	Ubiquitin-like.									breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTTTAAGAATTTTTCCTAAAA	0.254000													40	31					0	0	1	0	0
LOX	4015	broad.mit.edu	37	5	121409733	121409733	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:121409733C>T	ENST00000231004.4	-	4	1309	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	SRFBP1_ENST00000504881.1_Intron|LOX_ENST00000513319.1_5'UTR	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	337	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		ACATGCAAATCGCCTGTGGTA	0.483000													69	76					0	0	1	0	0
RUVBL1	8607	broad.mit.edu	37	3	127816333	127816333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:127816333G>A	ENST00000464873.1	-	8	1396	c.646C>T	c.(646-648)Cga>Tga	p.R216*	RUVBL1_ENST00000322623.5_Nonsense_Mutation_p.R276*|RUVBL1_ENST00000417360.1_Nonsense_Mutation_p.R276*			Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	276					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		ATCTCCCCTCGAAGTTTGTCT	0.522000													22	18					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220792055	220792055	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:220792055G>T	ENST00000402574.1	+	9	1464	c.462G>T	c.(460-462)aaG>aaT	p.K154N	MARK1_ENST00000366918.4_Missense_Mutation_p.K267N|MARK1_ENST00000366917.4_Missense_Mutation_p.K289N	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	289	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		ATCTTCTGAAGAAATTATTAG	0.343000													15	24					1.15088e-07	1.25258e-07	1	1	0
LRRC4B	94030	broad.mit.edu	37	19	51022508	51022508	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:51022508G>A	ENST00000599957.1	-	3	659	c.462C>T	c.(460-462)ttC>ttT	p.F154F	LRRC4B_ENST00000389201.3_Silent_p.F154F			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	154						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ACAGGTACTCGAAGGCCTGCG	0.657000													46	70					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55816697	55816697	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:55816697G>A	ENST00000309383.1	+	15	2003	c.1726G>A	c.(1726-1728)Gct>Act	p.A576T	BRSK1_ENST00000590333.1_Missense_Mutation_p.A592T|BRSK1_ENST00000326848.7_Missense_Mutation_p.A271T|BRSK1_ENST00000588584.1_3'UTR	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	576					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGTCCCTACCGCTGAGGAGAT	0.622000													24	26					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84561208	84561208	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:84561208C>A	ENST00000262753.4	-	12	1441	c.1296G>T	c.(1294-1296)gaG>gaT	p.E432D	POF1B_ENST00000373145.3_Missense_Mutation_p.E432D	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	432							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GGTTTTGATTCTCTTGCTCTA	0.318000													23	5					9.95505e-16	1.21017e-15	1	1	0
SLC9A4	389015	broad.mit.edu	37	2	103148875	103148875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:103148875G>T	ENST00000295269.4	+	12	2582	c.2125G>T	c.(2125-2127)Gaa>Taa	p.E709*		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	709					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGAGGCACAAGAAATAATACC	0.463000													34	39					1.06647e-15	1.29438e-15	1	1	0
PSMD12	5718	broad.mit.edu	37	17	65340859	65340859	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:65340859G>A	ENST00000356126.3	-	9	1053	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	PSMD12_ENST00000357146.4_Missense_Mutation_p.R296C	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	316	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GTGGACCAACGCATCAACTCC	0.338000													25	20					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50591560	50591560	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:50591560C>A	ENST00000262794.5	+	22	3062	c.2979C>A	c.(2977-2979)gtC>gtA	p.V993V	MOV10L1_ENST00000545383.1_Silent_p.V993V|MOV10L1_ENST00000540615.1_Silent_p.V973V|MOV10L1_ENST00000395843.1_Silent_p.V36V|MOV10L1_ENST00000395858.3_Silent_p.V993V|MOV10L1_ENST00000354853.2_Silent_p.V36V|MOV10L1_ENST00000395852.1_Silent_p.V120V	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	993					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AACTCGAGGTCTGTGCGGACC	0.587000													68	62					1.85257e-25	2.46871e-25	1	1	0
CETP	1071	broad.mit.edu	37	16	57009054	57009054	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:57009054C>A	ENST00000200676.3	+	10	1102	c.972C>A	c.(970-972)atC>atA	p.I324I	CETP_ENST00000379780.2_Silent_p.I264I|CETP_ENST00000566128.1_Silent_p.I259I	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	324					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						ACCAGGAAATCTTCCAAGAGG	0.537000													31	38					4.74835e-14	5.62983e-14	1	1	0
GRM5	2915	broad.mit.edu	37	11	88583186	88583186	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:88583186G>T	ENST00000418177.2	-	3	1166	c.799C>A	c.(799-801)Cac>Aac	p.H267N	GRM5_ENST00000393297.1_Missense_Mutation_p.H267N|GRM5_ENST00000305447.4_Missense_Mutation_p.H267N|GRM5_ENST00000305432.5_Missense_Mutation_p.H267N|GRM5_ENST00000455756.2_Missense_Mutation_p.H267N			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	267					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.H267D(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTGGGCAAGTGACTTGTGAGC	0.542000													42	44					4.44401e-20	5.69162e-20	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10467252	10467252	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:10467252C>T	ENST00000382483.3	-	4	4579	c.4356G>A	c.(4354-4356)gaG>gaA	p.E1452E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1452					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GACTAGGGGGCTCTGTGGGTT	0.632000													85	99					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92118621	92118621	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:92118621C>A	ENST00000248633.4	-	23	3848	c.3753G>T	c.(3751-3753)aaG>aaT	p.K1251N	PEX1_ENST00000428214.1_Missense_Mutation_p.K1194N|AC007566.10_ENST00000427458.1_RNA|PEX1_ENST00000438045.1_Missense_Mutation_p.K929N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1251					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CAGCAAAATTCTTCCAGTCAT	0.373000													11	11					1.05317e-09	1.17995e-09	1	1	0
IREB2	3658	broad.mit.edu	37	15	78782781	78782781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:78782781G>A	ENST00000258886.8	+	17	2243	c.2094G>A	c.(2092-2094)tgG>tgA	p.W698*		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	698							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		ATAAACGGTGGAATTCCTTAG	0.368000													30	35					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166889323	166889323	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:166889323C>T	ENST00000366863.2	-	11	1129	c.450G>A	c.(448-450)gaG>gaA	p.E150E	RPS6KA2_ENST00000503859.1_Intron|RPS6KA2_ENST00000405189.3_Intron|RPS6KA2_ENST00000481261.2_Intron|RPS6KA2_ENST00000265678.4_Intron|RPS6KA2_ENST00000510118.1_Intron			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	0	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|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|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGGCCGTTTTCTCACCTGCAG	0.483000													34	44					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767444	57767444	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:57767444G>A	ENST00000371030.2	+	1	1370	c.1370G>A	c.(1369-1371)cGc>cAc	p.R457H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	457						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTTGACATCCGCGCGCTGGAG	0.677000													21	31					0	0	1	0	0
TRDMT1	1787	broad.mit.edu	37	10	17199564	17199564	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:17199564C>T	ENST00000377799.3	-	8	810	c.763G>A	c.(763-765)Gat>Aat	p.D255N	TRDMT1_ENST00000412821.3_Missense_Mutation_p.D231N|TRDMT1_ENST00000457442.2_Missense_Mutation_p.D174N|TRDMT1_ENST00000488990.1_Missense_Mutation_p.D132N|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.D209N|TRDMT1_ENST00000452380.2_5'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	255					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						TCAAGAAAATCTTTTAGCATT	0.378000													25	33					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120803574	120803574	+	Silent	SNP	C	C	T	rs144646420		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:120803574C>T	ENST00000369144.3	-	18	2866	c.2739G>A	c.(2737-2739)ccG>ccA	p.P913P	EIF3A_ENST00000541549.1_Silent_p.P879P	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	913					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACTTCTCTGGCGGGCCTCTTC	0.438000													24	40					0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53776494	53776494	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:53776494A>G	ENST00000426431.2	+	3	802	c.742A>G	c.(742-744)Aat>Gat	p.N248D	SP1_ENST00000327443.4_Missense_Mutation_p.N255D	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	255	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GTATGTGACCAATGTACCAGT	0.527000													76	101					0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8018301	8018301	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:8018301T>G	ENST00000380149.1	-	4	1007	c.977A>C	c.(976-978)aAa>aCa	p.K326T	ALOXE3_ENST00000318227.3_Missense_Mutation_p.K302T|ALOXE3_ENST00000448843.2_Missense_Mutation_p.K170T			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	170	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAAGGCAAATTTCTTGTCTGA	0.507000													96	135					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21678629	21678629	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:21678629C>T	ENST00000328843.6	+	28	4936	c.4905C>T	c.(4903-4905)ttC>ttT	p.F1635F	DNAH11_ENST00000409508.3_Silent_p.F1630F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1635	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCTTCTATTTCGTCTCTTCTG	0.383000									Kartagener syndrome				35	41					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69699703	69699703	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:69699703T>C	ENST00000337103.4	+	11	2740	c.1148T>C	c.(1147-1149)gTa>gCa	p.V383A	C8orf34_ENST00000325233.3_Missense_Mutation_p.V152A|C8orf34_ENST00000518698.1_Missense_Mutation_p.V494A|C8orf34_ENST00000539993.1_Missense_Mutation_p.V408A			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	408					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAATTGCAGGTAGTTCATCAA	0.343000													13	14					0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8748587	8748587	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:8748587C>T	ENST00000276282.6	-	1	2568	c.1982G>A	c.(1981-1983)cGa>cAa	p.R661Q		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	661										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CTGCCAGGATCGAGGCAGTAC	0.622000													14	13					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158502270	158502270	+	Silent	SNP	G	G	A	rs149130768	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:158502270G>A	ENST00000355585.4	+	19	2772	c.2697G>A	c.(2695-2697)ccG>ccA	p.P899P	SYNJ2_ENST00000367112.1_5'UTR|SYNJ2_ENST00000367122.2_Silent_p.P899P|SYNJ2_ENST00000367121.3_Silent_p.P899P	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	899	RRM.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTCAATCACCGACCTTAGAAG	0.517000													67	75					0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153840780	153840780	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:153840780G>A	ENST00000356448.4	+	2	1283	c.999G>A	c.(997-999)tcG>tcA	p.S333S	ARHGEF26_ENST00000465093.1_Silent_p.S333S|ARHGEF26_ENST00000465817.1_Silent_p.S333S	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	333					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CTACCAGCTCGAAGAAGAAGA	0.517000													16	15					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789913	6789913	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:6789913G>T	ENST00000338569.2	-	1	373	c.276C>A	c.(274-276)atC>atA	p.I92I		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCCAAAGGAGATAGTGTTTT	0.542000													39	51					1.60099e-16	1.9682e-16	1	1	0
IQUB	154865	broad.mit.edu	37	7	123136919	123136919	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:123136919T>G	ENST00000466202.1	-	7	1641	c.1065A>C	c.(1063-1065)aaA>aaC	p.K355N	IQUB_ENST00000434450.1_Missense_Mutation_p.K355N|IQUB_ENST00000324698.6_Missense_Mutation_p.K355N	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	355	IQ.									breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTACGAAGATTTTAGCATGCC	0.328000													17	30					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111464013	111464013	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:111464013G>A	ENST00000265162.5	+	12	2256	c.1914G>A	c.(1912-1914)tcG>tcA	p.S638S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	638					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTTGGGACTCGATAGCTACAG	0.348000													38	67					0	0	1	0	0
PIGV	55650	broad.mit.edu	37	1	27120690	27120690	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:27120690C>T	ENST00000449950.2	+	3	429	c.77C>T	c.(76-78)tCg>tTg	p.S26L	PIGV_ENST00000078527.4_Silent_p.L55L|PIGV_ENST00000374145.1_Silent_p.L55L			Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	254					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TGGACCAACTCGTGGAAGGTC	0.537000													41	48					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29596300	29596300	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:29596300A>C	ENST00000318184.5	-	25	3150	c.3151T>G	c.(3151-3153)Tta>Gta	p.L1051V	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	1051					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTACCTATTAATTTTTTTCCT	0.353000													51	63					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811073	123811073	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:123811073C>T	ENST00000307033.2	+	1	824	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGACCTTAATCTTTGTGCCTT	0.537000													91	100					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048498	42048498	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:42048498G>A	ENST00000372584.1	-	3	2985	c.1971C>T	c.(1969-1971)aaC>aaT	p.N657N	HIVEP3_ENST00000429157.2_Silent_p.N657N|HIVEP3_ENST00000247584.5_Silent_p.N657N|HIVEP3_ENST00000372583.1_Silent_p.N657N	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	657	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGCTTCGTAGTTATCCCTTT	0.448000													58	41					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190922324	190922324	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:190922324C>T	ENST00000260950.4	-	3	920	c.788G>A	c.(787-789)aGa>aAa	p.R263K	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	263					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CCTTCTGGATCTTTTTGGTGT	0.403000													21	91					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869890	52869890	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:52869890G>T	ENST00000601151.1	+	5	1582	c.1130G>T	c.(1129-1131)aGa>aTa	p.R377I	ZNF610_ENST00000321287.8_Missense_Mutation_p.R420I|ZNF610_ENST00000403906.3_Missense_Mutation_p.R420I|ZNF610_ENST00000327920.8_Missense_Mutation_p.R420I	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AACCATCAGAGAATTCATACT	0.408000													28	38					6.12954e-19	7.73883e-19	1	1	0
POTEG	404785	broad.mit.edu	37	14	19553786	19553786	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:19553786G>A	ENST00000409832.3	+	1	422	c.370G>A	c.(370-372)Gac>Aac	p.D124N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	124										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGAGACTACGACGACAGCGC	0.587000													86	1022					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835554	247835554	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:247835554T>C	ENST00000359688.2	-	1	811	c.790A>G	c.(790-792)Aca>Gca	p.T264A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			CTTTCAAATGTATAGCTGGAA	0.473000													51	65					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42732463	42732463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:42732463G>T	ENST00000287777.4	+	5	1820	c.1720G>T	c.(1720-1722)Gag>Tag	p.E574*		NM_152393.2	NP_689606.2			kelch-like family member 40																		GGAGTCTGGAGAGCTGGTTCC	0.602000													20	25					8.00594e-06	8.47305e-06	1	1	0
TECTA	7007	broad.mit.edu	37	11	120998963	120998963	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:120998963C>T	ENST00000392793.1	+	9	2548	c.2277C>T	c.(2275-2277)ccC>ccT	p.P759P	TECTA_ENST00000264037.2_Silent_p.P759P			O75443	TECTA_HUMAN	tectorin alpha	759	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGAAGAAGCCCGATGCAGGAC	0.602000													38	59					0	0	1	0	0
VAX1	11023	broad.mit.edu	37	10	118891967	118891967	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:118891967C>A	ENST00000277905.2	-	3	695	c.451G>T	c.(451-453)Gaa>Taa	p.E151*		NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	151						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TTGAATCGTTCATTATTTTCT	0.318000													27	25					3.6726e-16	4.49736e-16	1	1	0
FAM86DP	692099	broad.mit.edu	37	3	75472058	75472058	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:75472058C>A	ENST00000459803.1	-	0	1083					NR_024241.1																						TATAAAAATTCTTCCCATGAG	0.413000													30	34					1.2476e-16	1.53624e-16	1	1	0
IGKV2-24	28923	broad.mit.edu	37	2	89476049	89476049	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:89476049G>T	ENST00000484817.1	-	0	152																											ACCTGCAGGAGATGGAGGCCG	0.517000													71	113					3.94896e-32	5.44041e-32	1	1	0
ZNF678	339500	broad.mit.edu	37	1	227842385	227842385	+	Missense_Mutation	SNP	G	G	T	rs150519821	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:227842385G>T	ENST00000343776.5	+	4	779	c.434G>T	c.(433-435)aGa>aTa	p.R145I	ZNF678_ENST00000397097.3_Missense_Mutation_p.R200I|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				AAACATAAAAGAATTCATACT	0.348000													26	49					6.12954e-19	7.73883e-19	1	1	0
CLVS1	157807	broad.mit.edu	37	8	62212619	62212619	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:62212619G>T	ENST00000519846.1	+	3	705	c.233G>T	c.(232-234)aGa>aTa	p.R78I	CLVS1_ENST00000325897.4_Missense_Mutation_p.R78I|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	78					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTCATCCTGAGATTTCTCCGA	0.463000													32	18					1.13719e-10	1.29117e-10	1	1	0
SLC8A2	6543	broad.mit.edu	37	19	47969455	47969455	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:47969455G>A	ENST00000236877.6	-	2	601	c.206C>T	c.(205-207)gCg>gTg	p.A69V	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	69					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TGCCCGTGCCGCCTTGTCACC	0.652000													15	11					0	0	1	0	0
ASGR2	433	broad.mit.edu	37	17	7005511	7005511	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:7005511A>C	ENST00000380952.2	-	8	932	c.668T>G	c.(667-669)tTc>tGc	p.F223C	ASGR2_ENST00000355035.5_Missense_Mutation_p.F223C|ASGR2_ENST00000254850.7_Missense_Mutation_p.F199C|ASGR2_ENST00000446679.2_Missense_Mutation_p.F204C	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	223	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	TTGTACAATGAATTTCTGGAA	0.502000													90	123					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52899117	52899117	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:52899117G>A	ENST00000281741.4	-	21	2754	c.2383C>T	c.(2383-2385)Ctg>Ttg	p.L795L		NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	795					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TTTATTCTCAGAGTTTCAATC	0.338000													33	24					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6291133	6291133	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:6291133C>T	ENST00000525462.1	+	2	389	c.386C>T	c.(385-387)gCg>gTg	p.A129V	CCKBR_ENST00000334619.2_Missense_Mutation_p.A129V|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525014.1_Missense_Mutation_p.A129V			P32239	GASR_HUMAN	cholecystokinin B receptor	124					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ATCTGCAAGGCGGTTTCCTAC	0.602000													27	21					0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142680255	142680255	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:142680255A>G	ENST00000343796.2	-	5	2535	c.1542T>C	c.(1540-1542)aaT>aaC	p.N514N	NR3C1_ENST00000231509.3_Silent_p.N515N|NR3C1_ENST00000415690.2_Silent_p.N514N|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000503201.1_Silent_p.N514N|NR3C1_ENST00000394466.2_Silent_p.N515N|NR3C1_ENST00000394464.2_Silent_p.N514N|NR3C1_ENST00000424646.2_Silent_p.N488N|NR3C1_ENST00000416954.2_Silent_p.N117N|NR3C1_ENST00000504572.1_Silent_p.N515N	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	514	Hinge.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TGTTACCAGGATTTTCAGAGG	0.398000													62	73					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113649124	113649124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:113649124G>A	ENST00000297405.5	-	22	3881	c.3637C>T	c.(3637-3639)Cga>Tga	p.R1213*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R1173*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R1109*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R1213*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1213	Sushi 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTCCAGTCGATAACCCGAA	0.507000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			38	66					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71953067	71953067	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:71953067T>G	ENST00000355327.3	+	8	1485	c.1351T>G	c.(1351-1353)Tat>Gat	p.Y451D	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.Y91D|THSD4_ENST00000261862.6_Missense_Mutation_p.Y451D			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	451						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGCAACAACTATTTGGGTAA	0.502000													35	38					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767750	77767750	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:77767750C>A	ENST00000521891.2	+	10	9041	c.8593C>A	c.(8593-8595)Ctc>Atc	p.L2865I	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2839I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2820I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2820I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2820						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L2849I(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGACAAATTTCTCTTTTCTCT	0.488000										HNSCC(33;0.089)			27	26					1.17739e-12	1.36828e-12	1	1	0
ECT2L	345930	broad.mit.edu	37	6	139203933	139203933	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:139203933G>A	ENST00000423192.1	+	15	2114	c.1953G>A	c.(1951-1953)acG>acA	p.T651T	ECT2L_ENST00000367682.2_Silent_p.T651T|ECT2L_ENST00000541398.1_Silent_p.T582T			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	651	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						AAATAGTCACGAAGTTTGGAA	0.408000			"""N, Splice, Mis"""		ETP ALL								23	41					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24889679	24889679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:24889679G>A	ENST00000396432.2	-	14	3514	c.3028C>T	c.(3028-3030)Cga>Tga	p.R1010*	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R797*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1009	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTGGTGAGTCGAAACACATTT	0.478000													27	50					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151773252	151773252	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:151773252C>T	ENST00000535741.1	-	23	4083	c.3610G>A	c.(3610-3612)Gac>Aac	p.D1204N	LRBA_ENST00000510413.1_Missense_Mutation_p.D1204N|LRBA_ENST00000357115.3_Missense_Mutation_p.D1204N|LRBA_ENST00000507224.1_Missense_Mutation_p.D1204N			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1204						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGACCAAGGTCTGATTCTACA	0.408000													50	50					0	0	1	0	0
NEMF	9147	broad.mit.edu	37	14	50295770	50295770	+	Splice_Site	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:50295770A>G	ENST00000298310.5	-	13	1682		c.e13+1		NEMF_ENST00000556925.1_Splice_Site|NEMF_ENST00000545773.1_Splice_Site|NEMF_ENST00000546046.1_Splice_Site			O60524	NEMF_HUMAN	nuclear export mediator factor							cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						AGTCAAACTTACCTTAGCAGC	0.323000													44	53					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65006915	65006915	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:65006915C>T	ENST00000394156.3	-	9	1735	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	CDH11_ENST00000268603.4_Missense_Mutation_p.D428N|CDH11_ENST00000566827.1_Missense_Mutation_p.D302N			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	428	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AAAAATCTGTCGAGGTCAGTG	0.393000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			23	23					0	0	1	0	0
MVB12B	89853	broad.mit.edu	37	9	129148859	129148859	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:129148859T>C	ENST00000361171.3	+	4	412	c.331T>C	c.(331-333)Tta>Cta	p.L111L	MVB12B_ENST00000545391.1_Silent_p.L111L|MVB12B_ENST00000535766.1_Silent_p.L104L|MVB12B_ENST00000436593.3_Silent_p.L96L	NM_033446.2	NP_258257.1			multivesicular body subunit 12B									p.L111L(1)									GGGGAACGTGTTAGTAGATAT	0.453000													15	27					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98660200	98660200	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:98660200G>A	ENST00000288985.7	+	3	879	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	192	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										TAACATGCCAGAGTTTTTACT	0.348000													5	104					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452817	179452817	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179452817T>G	ENST00000589042.1	-	305	63541	c.63317A>C	c.(63316-63318)aAa>aCa	p.K21106T	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K12041T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K12233T|TTN_ENST00000359218.5_Missense_Mutation_p.K12166T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K18538T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K19465T|TTN-AS1_ENST00000590743.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19465	Fibronectin type-III 53.						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)			ATCTGCTATTTTTGGTCTCAT	0.458000													30	22					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131007447	131007447	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:131007447T>G	ENST00000307968.7	-	13	2605	c.2606A>C	c.(2605-2607)aAa>aCa	p.K869T	FNIP1_ENST00000307954.8_Missense_Mutation_p.K852T|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.K897T	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		AAAGCAGGTTTTACATGAATC	0.353000													28	33					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52851021	52851021	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:52851021C>T	ENST00000266041.4	-	21	2446	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Missense_Mutation_p.E754K|ITIH4_ENST00000346281.5_Missense_Mutation_p.E768K|ITIH4_ENST00000485816.1_Missense_Mutation_p.E789K	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	784					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AAGGTCACTTCGATCCATGAG	0.582000													58	75					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52579169	52579169	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:52579169C>T	ENST00000313234.5	-	2	600	c.503G>A	c.(502-504)cGa>cAa	p.R168Q	KRT80_ENST00000394815.2_Missense_Mutation_p.R168Q	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	168	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GTACCTGATTCGAAACTCCTC	0.592000													41	52					0	0	1	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099709	142099709	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:142099709G>A	ENST00000390359.3	-	0	131																											CTCTCTTTGCGACTTTGTACC	0.473000													22	28					0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114043548	114043548	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:114043548C>T	ENST00000369422.3	+	1	56	c.56C>T	c.(55-57)tCg>tTg	p.S19L		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	19	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TCTGCAAAATCGTGTGCTCCA	0.478000													18	12					0	0	1	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103515212	103515212	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:103515212G>A	ENST00000602836.1	+	16	2989	c.2989G>A	c.(2989-2991)Gaa>Aaa	p.E997K	ERCC5_ENST00000355739.4_Silent_p.P571P	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										AATGTAAACCGAATTCTGCTT	0.408000													24	27					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73472564	73472564	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:73472564C>A	ENST00000224721.6	+	27	3383	c.3378C>A	c.(3376-3378)atC>atA	p.I1126I	C10orf105_ENST00000398786.2_3'UTR|C10orf105_ENST00000441508.2_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1121	Cadherin 11.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCACAGCATCTTGCAGGCAG	0.642000													6	8					0.00116845	0.00119626	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248308537	248308537	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:248308537C>A	ENST00000366476.1	+	1	88	c.88C>A	c.(88-90)Ctg>Atg	p.L30M		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			CCTCTTCTTTCTGGTCCTGGC	0.502000													126	180					2.78246e-50	3.96549e-50	1	1	0
SENP2	59343	broad.mit.edu	37	3	185329493	185329493	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:185329493A>C	ENST00000296257.5	+	8	1017	c.777A>C	c.(775-777)caA>caC	p.Q259H	SENP2_ENST00000545472.1_Missense_Mutation_p.Q249H|SENP2_ENST00000427465.2_Missense_Mutation_p.Q83H	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	259					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGGAAGAGCAAAATCACGGAG	0.393000													10	18					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237787115	237787115	+	Silent	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:237787115A>T	ENST00000366574.2	+	39	6284	c.5967A>T	c.(5965-5967)ccA>ccT	p.P1989P	RYR2_ENST00000542537.1_Silent_p.P1973P|RYR2_ENST00000360064.6_Silent_p.P1987P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1989	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)			GTCCATGTCCAGAAGAAATTC	0.318000													38	25					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120181689	120181689	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:120181689C>T	ENST00000450251.1	+	7	1247	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	USP53_ENST00000274030.6_Missense_Mutation_p.R235C			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	235					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AATAAAAATTCGCCGTGTTTT	0.368000													20	14					0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93523932	93523932	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:93523932C>A	ENST00000251871.3	+	3	897	c.610C>A	c.(610-612)Ctc>Atc	p.L204I		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	204					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGATAAAATTCTCGGAGATCT	0.403000													26	43					2.41591e-17	2.99699e-17	1	1	0
MBNL3	55796	broad.mit.edu	37	X	131525017	131525017	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:131525017T>A	ENST00000538204.1	-	4	544	c.479A>T	c.(478-480)gAt>gTt	p.D160V	RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370857.3_Missense_Mutation_p.D210V|MBNL3_ENST00000370849.3_Missense_Mutation_p.D160V|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000394311.2_Missense_Mutation_p.D114V|MBNL3_ENST00000370839.3_Missense_Mutation_p.D210V|MBNL3_ENST00000370853.3_Missense_Mutation_p.D210V|MBNL3_ENST00000370844.1_Missense_Mutation_p.D114V	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	210	Pro-rich.				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					CACAGTATTATCACTCGCTTC	0.473000													67	1					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117709020	117709020	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:117709020T>C	ENST00000368508.3	-	13	2135	c.1937A>G	c.(1936-1938)aAg>aGg	p.K646R	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.K641R	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	646	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CACAGAAACCTTGTATTTCAT	0.478000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								70	78					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7187649	7187649	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:7187649C>T	ENST00000317370.8	+	6	946	c.678C>T	c.(676-678)agC>agT	p.S226S	SLC2A4_ENST00000571308.1_Silent_p.S226S|SLC2A4_ENST00000424875.2_Silent_p.S216S	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	226					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GTCCCGAGAGCCCCCGCTACC	0.647000													37	37					0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214860	11214860	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:11214860G>T	ENST00000533467.1	-	1	33	c.34C>A	c.(34-36)Cta>Ata	p.L12I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	12					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		ACCACTATTAGAATGGAAAAA	0.328000													15	25					4.7546e-09	5.27048e-09	1	1	0
RFX4	5992	broad.mit.edu	37	12	107126765	107126765	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:107126765C>T	ENST00000392842.1	+	15	1949	c.1535C>T	c.(1534-1536)tCg>tTg	p.S512L	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.S521L|RFX4_ENST00000229387.5_Missense_Mutation_p.S418L|RP11-482D24.3_ENST00000552415.1_RNA	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	512					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CCAGTGCCATCGTTTTCTCCA	0.502000													89	87					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29738337	29738337	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:29738337G>T	ENST00000357586.2	-	12	1659	c.1473C>A	c.(1471-1473)ctC>ctA	p.L491L	AP1B1_ENST00000356015.2_Silent_p.L491L|AP1B1_ENST00000317368.7_Silent_p.L491L|AP1B1_ENST00000405198.1_Silent_p.L491L|AP1B1_ENST00000415447.1_Silent_p.L491L|AP1B1_ENST00000432560.2_Silent_p.L491L|AP1B1_ENST00000402502.1_Silent_p.L491L	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	491					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCTTTAGAAAGAGTTTCACAA	0.582000													9	25					2.17888e-05	2.28784e-05	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152476173	152476173	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:152476173C>T	ENST00000367255.5	-	133	24584	c.23983G>A	c.(23983-23985)Gaa>Aaa	p.E7995K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E7924K|SYNE1_ENST00000539504.1_Missense_Mutation_p.E150K|SYNE1_ENST00000354674.4_Missense_Mutation_p.E150K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E7924K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E7995K|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7607K|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2519K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7995					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACGTCTCTTCGATTCTGGGG	0.483000										HNSCC(10;0.0054)			49	75					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100266053	100266053	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:100266053G>A	ENST00000515683.1	-	0	884				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	ATAACCAGTCGAAAATCCACA	0.488000													56	87					0	0	1	0	0
LEF1	51176	broad.mit.edu	37	4	108985529	108985529	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:108985529C>A	ENST00000379951.2	-	9	2232	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	LEF1_ENST00000265165.1_Missense_Mutation_p.K376N|LEF1_ENST00000438313.2_Missense_Mutation_p.K348N|LEF1_ENST00000510624.1_Missense_Mutation_p.K280N|LEF1_ENST00000503879.1_5'UTR	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	376					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCTTCCTCTTCTTTTTCTTAC	0.443000													22	36					2.89027e-11	3.30697e-11	1	1	0
TTN	7273	broad.mit.edu	37	2	179419844	179419844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179419844C>A	ENST00000589042.1	-	331	88566	c.88342G>T	c.(88342-88344)Gaa>Taa	p.E29448*	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E20383*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E20575*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E20508*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E26880*|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E27807*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27807	Fibronectin type-III 114.						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)			TTGACAACTTCTGTATATTCT	0.358000													30	46					1.99505e-19	2.53687e-19	1	1	0
LAMA1	284217	broad.mit.edu	37	18	6955399	6955399	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:6955399T>C	ENST00000389658.3	-	57	8253	c.8160A>G	c.(8158-8160)caA>caG	p.Q2720Q	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2720	Laminin G-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATGGCTGTTTTGTGTGAGAC	0.502000													26	21					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34560608	34560608	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:34560608C>T	ENST00000373973.3	+	2	282	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C	CNBD2_ENST00000349339.1_Missense_Mutation_p.R37C|CNBD2_ENST00000538900.1_Missense_Mutation_p.R37C					cyclic nucleotide binding domain containing 2																		TAAAATGTTCCGCCAAGGCCT	0.463000													76	88					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94976302	94976302	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:94976302C>A	ENST00000261226.4	-	2	222	c.91G>T	c.(91-93)Gac>Tac	p.D31Y	TMCC3_ENST00000551457.1_5'UTR	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	31						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GTATTCATGTCATGACGTTCT	0.443000													43	45					8.20599e-20	1.04846e-19	1	1	0
ZNF658	26149	broad.mit.edu	37	9	40774899	40774899	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:40774899C>T	ENST00000602553.1	-	5	670	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	ZNF658_ENST00000441795.1_Missense_Mutation_p.E124K|ZNF658_ENST00000377626.3_Missense_Mutation_p.E126K			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGAGCTATTTCCAGATTAAAT	0.318000													15	19					0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145059660	145059660	+	Missense_Mutation	SNP	C	C	T	rs151203246		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:145059660C>T	ENST00000313028.7	-	4	687	c.593G>A	c.(592-594)cGc>cAc	p.R198H	PARP10_ENST00000524918.1_Missense_Mutation_p.R198H|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Missense_Mutation_p.R210H	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	198						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCACCACTGCGGCGCTCATT	0.687000													17	28					0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169626102	169626102	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:169626102C>T	ENST00000305747.6	+	10	1672	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	CERS6_ENST00000392687.4_Missense_Mutation_p.A370V	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	362						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CCCCACACTGCGACAACCACC	0.498000													39	48					0	0	1	0	0
TBC1D3B	414059	broad.mit.edu	37	17	34499227	34499227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:34499227G>A	ENST00000454519.3	-	7	633	c.484C>T	c.(484-486)Cga>Tga	p.R162*	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Nonsense_Mutation_p.R162*	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTCCGTATCGATCCCTGAAG	0.562000													119	878					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46608135	46608135	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:46608135G>A	ENST00000239174.6	-	1	224	c.132C>T	c.(130-132)agC>agT	p.S44S	HOXB1_ENST00000577092.1_Silent_p.S44S	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	44						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGCGGCCCTCGCTTGCATAGC	0.677000													70	63					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200245206	200245206	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:200245206A>G	ENST00000443023.1	-	4	1766	c.301T>C	c.(301-303)Tca>Cca	p.S101P	SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000260926.5_Missense_Mutation_p.S160P|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000457245.1_Missense_Mutation_p.S160P|SATB2_ENST00000417098.1_Missense_Mutation_p.S160P			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	160						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCAACTTTGAACAACTGCAA	0.488000													29	3					0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57057639	57057639	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:57057639G>T	ENST00000308249.2	+	7	1644	c.1515G>T	c.(1513-1515)gaG>gaT	p.E505D		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	514					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.E505D(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ATTGGACAGAGAACTCTTTTC	0.488000													60	71					3.7469e-33	5.18614e-33	1	1	0
TMEM168	64418	broad.mit.edu	37	7	112423944	112423944	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:112423944G>T	ENST00000312814.6	-	2	1497	c.937C>A	c.(937-939)Ctt>Att	p.L313I	TMEM168_ENST00000454074.1_Missense_Mutation_p.L313I	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168							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						AGAGTTAAAAGAAAAATAATA	0.338000													88	90					2.67039e-37	3.73197e-37	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73151093	73151093	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:73151093G>A	ENST00000377110.3	-	25	5143	c.4900C>T	c.(4900-4902)Cgc>Tgc	p.R1634C	TRPM3_ENST00000357533.2_Missense_Mutation_p.R1638C|TRPM3_ENST00000396285.1_Missense_Mutation_p.R1493C|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1661C|TRPM3_ENST00000360823.2_Missense_Mutation_p.R1496C|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1493C|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1506C|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1483C|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1493C|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1496C|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1506C			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTGTTGGCGCGCTCTATCTTG	0.552000													286	314					0	0	1	0	0
PANK2	80025	broad.mit.edu	37	20	3899358	3899358	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:3899358T>G	ENST00000497424.1	+	6	1015	c.704T>G	c.(703-705)aTt>aGt	p.I235S	PANK2_ENST00000610179.1_Missense_Mutation_p.I403S|PANK2_ENST00000316562.4_Missense_Mutation_p.I526S	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	526					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTCTTGAGAATTAATACGATC	0.378000													4	141					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29855969	29855969	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:29855969C>A	ENST00000431530.3	+	4	2861	c.2803C>A	c.(2803-2805)Ctt>Att	p.L935I		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	925	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAGGAGTTTACTTCCAGCGCC	0.552000													51	47					4.17463e-26	5.57977e-26	1	1	0
CNKSR2	22866	broad.mit.edu	37	X	21450809	21450809	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:21450809T>C	ENST00000425654.2	+	3	788	c.308T>C	c.(307-309)aTa>aCa	p.I103T	CNKSR2_ENST00000279451.4_Missense_Mutation_p.I103T|CNKSR2_ENST00000543067.1_Missense_Mutation_p.I103T|CNKSR2_ENST00000379510.3_Missense_Mutation_p.I103T	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	103	CRIC.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CAGAATTTTATAACAGGAAGG	0.403000													67	8					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26493182	26493182	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:26493182A>C	ENST00000381340.3	-	56	8353	c.7937T>G	c.(7936-7938)aTt>aGt	p.I2646S	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2646					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AAGGCTCCGAATTTCATTTTG	0.507000													33	34					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906132	129906132	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:129906132C>A	ENST00000368654.3	-	13	4347	c.3972G>T	c.(3970-3972)gaG>gaT	p.E1324D	MKI67_ENST00000368653.3_Missense_Mutation_p.E964D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1324	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CGGTTAAGTTCTCTGTCAGGT	0.517000													95	126					5.25376e-55	7.5096e-55	1	1	0
DIEXF	27042	broad.mit.edu	37	1	210014341	210014341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:210014341G>A	ENST00000491415.2	+	8	1483	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	476					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GTCTTCTATCGAGCTTCTCAT	0.458000													28	30					0	0	1	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54730002	54730002	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:54730002C>T	ENST00000355221.3	-	5	954	c.395G>A	c.(394-396)cGc>cAc	p.R132H	ATP6V1H_ENST00000359530.2_Missense_Mutation_p.R132H|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.R92H|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.R132H	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	132					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GGGATCCTGGCGATTCAACAT	0.368000													11	24					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6302668	6302668	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:6302668T>G	ENST00000344683.5	+	8	1501	c.1425T>G	c.(1423-1425)aaT>aaG	p.N475K	MCPH1_ENST00000519480.1_Missense_Mutation_p.N475K|MCPH1_ENST00000522905.1_Missense_Mutation_p.N427K	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	475						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ACATTACCAATTTCACAGCAA	0.443000													38	42					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87967578	87967578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:87967578G>T	ENST00000369577.3	+	8	4274	c.4231G>T	c.(4231-4233)Gaa>Taa	p.E1411*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.E1406*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AATTGCTCAAGAACTTCTACA	0.453000													74	95					1.59245e-42	2.24611e-42	1	1	0
PRUNE	58497	broad.mit.edu	37	1	150981120	150981120	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:150981120C>G	ENST00000271620.3	+	1	168	c.12C>G	c.(10-12)taC>taG	p.Y4*	PRUNE_ENST00000368936.1_5'UTR|PRUNE_ENST00000368935.1_5'UTR|PRUNE_ENST00000368937.1_5'UTR|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000271619.8_Nonsense_Mutation_p.Y4*	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	4						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGAGGACTACCTGCAGGGTT	0.612000													24	164					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112324510	112324510	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:112324510G>A	ENST00000206423.3	-	8	3560	c.2607C>T	c.(2605-2607)gtC>gtT	p.V869V	CCDC80_ENST00000439685.2_Silent_p.V869V	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	869										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CGTCTTTTCCGACTAGAAGCA	0.453000													18	27					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14150186	14150186	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:14150186G>A	ENST00000380959.3	-	5	1237	c.764C>T	c.(763-765)tCg>tTg	p.S255L	NFIB_ENST00000380934.4_Missense_Mutation_p.S281L|NFIB_ENST00000380953.1_Missense_Mutation_p.S255L|NFIB_ENST00000397581.2_Missense_Mutation_p.S255L|NFIB_ENST00000380924.1_Missense_Mutation_p.S3L|NFIB_ENST00000397579.2_Missense_Mutation_p.S255L|NFIB_ENST00000543693.1_Missense_Mutation_p.S3L|NFIB_ENST00000397575.3_Missense_Mutation_p.S255L	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	255					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		ATTGACCCCCGAGTTCATGTC	0.478000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								133	160					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70946755	70946755	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:70946755T>C	ENST00000334414.6	-	21	5233	c.5189A>G	c.(5188-5190)tAc>tGc	p.Y1730C	PTPRB_ENST00000550857.1_Missense_Mutation_p.Y1422C|PTPRB_ENST00000261266.5_Missense_Mutation_p.Y1512C|PTPRB_ENST00000538708.1_Missense_Mutation_p.Y1422C|PTPRB_ENST00000451516.2_Missense_Mutation_p.Y1422C|PTPRB_ENST00000550358.1_Missense_Mutation_p.Y1642C	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1512	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTACTCCAGGTAGGAAGGGAG	0.473000													56	75					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148044244	148044244	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:148044244G>T	ENST00000370460.2	+	13	3169		c.e13-1		AFF2_ENST00000286437.5_Splice_Site|AFF2_ENST00000342251.3_Splice_Site|AFF2_ENST00000370457.5_Splice_Site	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2						brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTTCACAGAAATAATTCA	0.403000													11	4					0.000673444	0.000691067	1	1	0
KIAA1199	57214	broad.mit.edu	37	15	81230243	81230243	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:81230243C>T	ENST00000394685.3	+	25	3749	c.3330C>T	c.(3328-3330)ttC>ttT	p.F1110F	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.F1110F|KIAA1199_ENST00000356249.5_Silent_p.F1110F			Q8WUJ3	K1199_HUMAN	KIAA1199	1110										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CGGGCGTCTTCGTGAGGACCT	0.602000													21	34					0	0	1	0	0
CDK5R2	8941	broad.mit.edu	37	2	219825237	219825237	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:219825237C>A	ENST00000302625.4	+	1	861	c.695C>A	c.(694-696)aCg>aAg	p.T232K	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	232					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTTCATTACGCCTGCAAAC	0.682000													65	14					1.08241e-25	1.44456e-25	1	1	0
ENPP7	339221	broad.mit.edu	37	17	77709183	77709183	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:77709183C>T	ENST00000328313.5	+	3	962	c.741C>T	c.(739-741)caC>caT	p.H247H		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	247					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CATCCGACCACGGCATGACGA	0.607000													48	62					0	0	1	0	0
FBXL14	144699	broad.mit.edu	37	12	1702831	1702831	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:1702831G>T	ENST00000339235.3	-	1	500	c.402C>A	c.(400-402)agC>agA	p.S134R	WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	134						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			TGCGGCCCAGGCTGCTGTCAG	0.627000													44	46					3.76604e-16	4.60966e-16	1	1	0
SEMA3D	223117	broad.mit.edu	37	7	84642104	84642104	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:84642104C>T	ENST00000284136.6	-	15	1805	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	588					cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.E588K(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TTACTGTCTTCGATGTCCCAG	0.383000													29	46					0	0	1	0	0
CCDC65	85478	broad.mit.edu	37	12	49312219	49312219	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:49312219G>T	ENST00000266984.5	+	5	998	c.771G>T	c.(769-771)gaG>gaT	p.E257D	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.E257D			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	257										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						GCTCCAAAGAGATTGAAGTAC	0.433000													33	45					6.00712e-18	7.50257e-18	1	1	0
IL5	3567	broad.mit.edu	37	5	131877547	131877547	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:131877547C>T	ENST00000231454.1	-	4	404	c.361G>A	c.(361-363)Gag>Aag	p.E121K		NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	interleukin 5 (colony-stimulating factor, eosinophil)	121					immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	CCAAGAAACTCTTGCAGGTAG	0.378000													38	34					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21971461	21971461	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:21971461G>A	ENST00000298717.4	-	3	729	c.578C>T	c.(577-579)tCg>tTg	p.S193L	METTL3_ENST00000538267.1_Intron	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	193					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AGAGACTAACGAACTGGCAAA	0.537000													30	44					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7880445	7880445	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:7880445G>A	ENST00000283147.6	+	7	1570	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	471					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TATGAACCCCGAGTATGTCCC	0.443000													60	96					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162402215	162402215	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:162402215T>C	ENST00000306100.5	-	13	2001	c.1565A>G	c.(1564-1566)gAc>gGc	p.D522G	FSTL5_ENST00000536695.1_Missense_Mutation_p.D521G|FSTL5_ENST00000427802.2_Missense_Mutation_p.D512G|FSTL5_ENST00000379164.4_Missense_Mutation_p.D521G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	522						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)		AAGGACTCTGTCCAAAGTTGG	0.358000													49	53					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1798633	1798633	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:1798633C>T	ENST00000250894.4	+	8	1282	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	MAPK8IP3_ENST00000356010.5_Silent_p.F375F|MAPK8IP3_ENST00000568271.1_3'UTR	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	375					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						ACAAAGCTTTCGGCATCAACA	0.617000													25	23					0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55672758	55672758	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:55672758C>T	ENST00000527223.2	-	7	897	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	DNAAF3_ENST00000391720.4_Missense_Mutation_p.R278Q|DNAAF3_ENST00000524407.2_Missense_Mutation_p.R231Q|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Missense_Mutation_p.R177Q	NM_001256714.1	NP_001243643	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	231																	CCGCCAGCGTCGGAACTCCTG	0.657000													3	24					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3211631	3211631	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:3211631G>T	ENST00000355072.5	+	47	6514	c.6369G>T	c.(6367-6369)gtG>gtT	p.V2123V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2123					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAGAGCTGGTGAATCGGATTC	0.488000													94	106					3.77759e-48	5.36651e-48	1	1	0
AK5	26289	broad.mit.edu	37	1	77763321	77763321	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:77763321G>T	ENST00000344720.5	+	4	1441	c.415G>T	c.(415-417)Gaa>Taa	p.E139*	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Nonsense_Mutation_p.E165*	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	165					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TTCTGTGGGAGAATTATTAAG	0.403000													34	45					1.36615e-20	1.75855e-20	1	1	0
RNF157	114804	broad.mit.edu	37	17	74148488	74148488	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:74148488G>A	ENST00000269391.6	-	18	2001	c.1869C>T	c.(1867-1869)atC>atT	p.I623I	RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000586627.1_RNA|RNF157_ENST00000319945.6_Silent_p.I601I|RNF157-AS1_ENST00000590137.1_RNA	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	623							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TCACGCTTGCGATGTCAAAGT	0.498000													58	59					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057134	72057134	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:72057134A>C	ENST00000378743.3	-	1	615	c.257T>G	c.(256-258)tTc>tGc	p.F86C	ZFC3H1_ENST00000548100.1_Missense_Mutation_p.F86C|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.F86C	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	86	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGAGCGTGAGAAATTCCTCAG	0.662000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	78	94					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43292034	43292034	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:43292034G>T	ENST00000374518.5	+	10	1405	c.1342G>T	c.(1342-1344)Gat>Tat	p.D448Y		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGAAGAAGATGATGAAATGTC	0.423000													45	70					5.34276e-22	6.93765e-22	1	1	0
ATG13	9776	broad.mit.edu	37	11	46677799	46677799	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:46677799G>T	ENST00000434074.1	+	7	1164	c.475G>T	c.(475-477)Gtt>Ttt	p.V159F	ATG13_ENST00000526508.1_Missense_Mutation_p.V159F|ATG13_ENST00000524625.1_Missense_Mutation_p.V159F|ATG13_ENST00000359513.4_Missense_Mutation_p.V159F|ATG13_ENST00000451945.1_Missense_Mutation_p.V159F|ATG13_ENST00000530500.1_Missense_Mutation_p.V80F|ATG13_ENST00000528494.1_Missense_Mutation_p.V159F|ATG13_ENST00000312040.4_Missense_Mutation_p.V159F|ATG13_ENST00000529655.1_Missense_Mutation_p.V159F	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	159					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TTTTGGAGAAGTTCAGCTGAG	0.373000													34	32					2.47316e-13	2.90131e-13	1	1	0
SNAP29	9342	broad.mit.edu	37	22	21242113	21242113	+	Nonsense_Mutation	SNP	C	C	T	rs148156702		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:21242113C>T	ENST00000215730.7	+	5	894	c.766C>T	c.(766-768)Cga>Tga	p.R256*		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa		t-SNARE coiled-coil homology.				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	p.R256*(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			AAGAAAAGTTCGACAACTCTG	0.353000													26	41					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10286250	10286250	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:10286250G>A	ENST00000340748.4	-	6	801	c.566C>T	c.(565-567)tCg>tTg	p.S189L	DNMT1_ENST00000359526.4_Missense_Mutation_p.S205L|DNMT1_ENST00000540357.1_Missense_Mutation_p.S189L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	189	Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGACTCATCCGATTTGGCTCT	0.483000													24	34					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33028024	33028024	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:33028024G>A	ENST00000374864.4	+	9	957	c.744G>A	c.(742-744)ccG>ccA	p.P248P	ITCH_ENST00000535650.1_Silent_p.P138P|ITCH_ENST00000262650.6_Silent_p.P289P	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	289					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GCTCTCTGCCGCCGACAAATA	0.413000													30	28					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5085457	5085457	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:5085457G>A	ENST00000399604.4	-	1	2235	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	ZNF594_ENST00000575779.1_Missense_Mutation_p.R699W			Q96JF6	ZN594_HUMAN	zinc finger protein 594	699					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGAAGTCTCCGATGTTGAATA	0.478000													51	66					0	0	1	0	0
RAE1	8480	broad.mit.edu	37	20	55949952	55949952	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:55949952A>G	ENST00000527947.1	+	11	1293	c.1115A>G	c.(1114-1116)gAc>gGc	p.D372G	RAE1_ENST00000371242.2_Intron|RAE1_ENST00000395841.2_Intron|RAE1_ENST00000395840.2_Intron			P78406	RAE1L_HUMAN	ribonucleic acid export 1	0					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			tcttctcaggactcacgtgtg	0.577000													8	8					0	0	1	0	0
MDP1	145553	broad.mit.edu	37	14	24683326	24683326	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:24683326C>A	ENST00000396833.2	-	5	404	c.295G>T	c.(295-297)Gaa>Taa	p.E99*	MDP1_ENST00000532557.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000288087.7_Missense_Mutation_p.M145I|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.M162I	NM_001199821.1	NP_001186750.1			magnesium-dependent phosphatase 1											breast(2)|large_intestine(2)|lung(3)	7						TTTGAAGATTCATTCCATTCT	0.438000													33	53					2.48696e-23	3.26513e-23	1	1	0
NEB	4703	broad.mit.edu	37	2	152512956	152512956	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:152512956T>C	ENST00000427231.2	-	49	6408	c.6206A>G	c.(6205-6207)gAa>gGa	p.E2069G	NEB_ENST00000409198.1_Missense_Mutation_p.E2069G|NEB_ENST00000604864.1_Missense_Mutation_p.E2069G|NEB_ENST00000397345.3_Missense_Mutation_p.E2069G|NEB_ENST00000603639.1_Missense_Mutation_p.E2069G|NEB_ENST00000172853.10_Missense_Mutation_p.E2069G	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	2069					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTCCCTTTTTCATAATTGTA	0.368000													43	53					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101323	80101323	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:80101323C>T	ENST00000466387.1	+	10	1431	c.707C>T	c.(706-708)aCg>aTg	p.T236M	CTNNA2_ENST00000402739.4_Missense_Mutation_p.T236M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T236M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.T236M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T270M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.T236M			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	236					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTCGCCGCTACGAGAGCCAAC	0.587000													29	35					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161456	25161456	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:25161456C>T	ENST00000453498.1	+	0	980				TPTE2P6_ENST00000440905.1_RNA																							ATTATTTATTCGATTCGTGGT	0.378000													5	25					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21747336	21747336	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:21747336G>A	ENST00000328843.6	+	41	6618	c.6587G>A	c.(6586-6588)cGa>cAa	p.R2196Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.R2189Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2196	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACACTGAACCGAACATATGTT	0.373000									Kartagener syndrome				20	16					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25457218	25457218	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:25457218C>T	ENST00000264709.3	-	23	3006	c.2669G>A	c.(2668-2670)gGc>gAc	p.G890D	DNMT3A_ENST00000380746.4_Missense_Mutation_p.G701D|DNMT3A_ENST00000402667.1_Missense_Mutation_p.G667D|DNMT3A_ENST00000321117.5_Missense_Mutation_p.G890D	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	890					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.G890D(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATGACCGGCCCAGCAGTCT	0.582000			"""Mis, F, N, S"""		AML								26	35					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37356632	37356632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:37356632G>A	ENST00000373091.3	-	2	197	c.181C>T	c.(181-183)Cga>Tga	p.R61*	GRIK3_ENST00000373093.4_Nonsense_Mutation_p.R61*	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	61					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GCAGAAAATCGAAAGGCATGC	0.502000													97	123					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895592	24895592	+	Missense_Mutation	SNP	G	G	A	rs146807462		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:24895592G>A	ENST00000382071.2	+	4	773	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E230K|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	230	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CCTGTATAACGAATTCAACCA	0.428000													27	156					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191362227	191362227	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:191362227G>A	ENST00000392328.1	+	7	2278	c.1954G>A	c.(1954-1956)Gac>Aac	p.D652N	MFSD6_ENST00000281416.7_Missense_Mutation_p.D652N|MFSD6_ENST00000535751.1_Missense_Mutation_p.D114N	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	652					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						AGCAACCATCGACTTGGTACA	0.438000													205	70					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15469316	15469316	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:15469316C>T	ENST00000380733.4	-	12	1395	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q	PSIP1_ENST00000380738.4_Missense_Mutation_p.R351Q			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	351					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CCTTTGAAGTCGAGAATCCAT	0.279000													14	22					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237617809	237617809	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:237617809G>T	ENST00000366574.2	+	15	1728	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E455*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E469*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	471					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)			TGAGCATTTAGAGCATGAAGA	0.463000													26	17					3.73988e-18	4.68078e-18	1	1	0
ABHD17B	51104	broad.mit.edu	37	9	74489774	74489774	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:74489774T>G	ENST00000333421.6	-	2	334	c.223A>C	c.(223-225)Aaa>Caa	p.K75Q	ABHD17B_ENST00000377041.2_Missense_Mutation_p.K75Q	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B																		CTGTTGCCTTTACTGGTTCTA	0.408000													53	70					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33444528	33444528	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:33444528C>A	ENST00000305768.5	-	4	573	c.485G>T	c.(484-486)aGa>aTa	p.R162I	CEP89_ENST00000590597.2_Missense_Mutation_p.R162I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa							centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CACCTGATTTCTGTGTGGCAC	0.458000													56	713					3.48418e-26	4.66394e-26	1	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128887579	128887579	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:128887579G>T	ENST00000274487.4	+	7	1478	c.1333G>T	c.(1333-1335)Gat>Tat	p.D445Y	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	445	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGTGCACAAAGATGAACCATG	0.294000													6	8					0.248553	0.248879	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22952780	22952780	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:22952780G>T	ENST00000397104.3	-	1	4	c.5C>A	c.(4-6)tCt>tAt	p.S2Y	ZNF99_ENST00000596209.1_Intron					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGACCAAAAAGACATGTTGAG	0.274000													21	19					7.45023e-12	8.57218e-12	1	1	0
NF1	4763	broad.mit.edu	37	17	29508736	29508736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:29508736G>A	ENST00000358273.4	+	7	1046	c.663G>A	c.(661-663)tgG>tgA	p.W221*	NF1_ENST00000356175.3_Nonsense_Mutation_p.W221*|NF1_ENST00000431387.4_Nonsense_Mutation_p.W221*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	221					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGGCATTTTGGAACTGGGTAG	0.294000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			28	33					0	0	1	0	0
ATP5A1	498	broad.mit.edu	37	18	43664269	43664269	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:43664269G>T	ENST00000593152.2	-	12	2030	c.1491C>A	c.(1489-1491)ttC>ttA	p.F497L	ATP5A1_ENST00000590665.1_Missense_Mutation_p.F525L|ATP5A1_ENST00000282050.2_Missense_Mutation_p.F547L|ATP5A1_ENST00000398752.6_Missense_Mutation_p.F547L	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	547					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						ATCCAGCCAAGAAATTTGTTA	0.368000													27	21					7.01153e-11	7.98985e-11	1	1	0
OR1J4	26219	broad.mit.edu	37	9	125281723	125281723	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:125281723T>C	ENST00000340750.1	+	1	304	c.304T>C	c.(304-306)Tat>Cat	p.Y102H		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						AACTCAGATGTATTTTTTCAT	0.418000													72	90					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35945489	35945489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:35945489G>A	ENST00000339208.6	-	5	561	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	SYNRG_ENST00000394378.2_Missense_Mutation_p.R141C|SYNRG_ENST00000585472.1_Missense_Mutation_p.R140C|SYNRG_ENST00000346661.4_Missense_Mutation_p.R141C|SYNRG_ENST00000345615.4_Missense_Mutation_p.R141C|SYNRG_ENST00000591288.1_Missense_Mutation_p.R141C|SYNRG_ENST00000502449.2_Missense_Mutation_p.R141C	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	141					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCAAACTGGCGTCTTTTTCTT	0.403000													55	71					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98209368	98209368	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:98209368C>T	ENST00000284049.3	-	25	3649	c.3500G>A	c.(3499-3501)cGa>cAa	p.R1167Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1167					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTCTCCCAGTCGTCTAAGGTC	0.338000													26	33					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128441252	128441252	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:128441252C>A	ENST00000297788.4	+	4	726	c.359C>A	c.(358-360)tCt>tAt	p.S120Y	CCDC136_ENST00000464832.1_Missense_Mutation_p.S170Y|CCDC136_ENST00000487361.1_Missense_Mutation_p.S120Y|CCDC136_ENST00000378685.4_Missense_Mutation_p.S170Y	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	120	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAGCTGCGTTCTCTACGGGAG	0.453000													17	23					0.000566183	0.000582681	1	1	0
SLC27A6	28965	broad.mit.edu	37	5	128351714	128351714	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:128351714C>A	ENST00000262462.4	+	5	2116	c.1106C>A	c.(1105-1107)tCt>tAt	p.S369Y	SLC27A6_ENST00000506176.1_Missense_Mutation_p.S369Y|SLC27A6_ENST00000395266.1_Missense_Mutation_p.S369Y			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	369					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TCAAGCATATCTTTCATGAAC	0.358000													62	78					5.10508e-28	6.92935e-28	1	1	0
ENDOD1	23052	broad.mit.edu	37	11	94862278	94862278	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:94862278T>G	ENST00000278505.4	+	2	1156	c.1038T>G	c.(1036-1038)atT>atG	p.I346M		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	346						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TTCAATTAATTTATTACCTTG	0.428000													35	32					0	0	1	0	0
PTX3	5806	broad.mit.edu	37	3	157160649	157160649	+	Missense_Mutation	SNP	C	C	T	rs146705881		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:157160649C>T	ENST00000295927.3	+	3	1172	c.1027C>T	c.(1027-1029)Ctt>Ttt	p.L343F	VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	343	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGATAGTGTTCTTAGCAATGA	0.498000													37	47					0	0	1	0	0
GGCX	2677	broad.mit.edu	37	2	85777709	85777709	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:85777709A>C	ENST00000233838.4	-	14	2133	c.2053T>G	c.(2053-2055)Ttg>Gtg	p.L685V	GGCX_ENST00000430215.3_Missense_Mutation_p.L628V	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	TTTCGCAACAAGAAGCGGAAG	0.483000													31	47					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175087766	175087766	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:175087766C>T	ENST00000239462.4	+	11	2569	c.2456C>T	c.(2455-2457)cCg>cTg	p.P819L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	819	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TCCTGGGACCCGGTGCAGGCC	0.542000													40	55					0	0	1	0	0
WBSCR22	114049	broad.mit.edu	37	7	73106965	73106965	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:73106965A>C	ENST00000265758.2	+	7	557	c.499A>C	c.(499-501)Aac>Cac	p.N167H	WBSCR22_ENST00000423497.1_Missense_Mutation_p.N167H|WBSCR22_ENST00000423166.2_3'UTR	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	167						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTACCCTGAGAACTCAGAGCA	0.552000													35	38					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7592301	7592301	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:7592301G>A	ENST00000316024.5	+	1	2683	c.335G>A	c.(334-336)aGc>aAc	p.S112N	WRAP53_ENST00000457584.2_Missense_Mutation_p.S112N|WRAP53_ENST00000396463.2_Missense_Mutation_p.S112N|WRAP53_ENST00000534050.1_Missense_Mutation_p.S112N|WRAP53_ENST00000431639.2_Missense_Mutation_p.S112N			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	112					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCAAACGGGAGCCTTTCTGAA	0.517000													74	72					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201502954	201502954	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:201502954C>T	ENST00000374700.2	+	23	2738	c.2497C>T	c.(2497-2499)Cgc>Tgc	p.R833C	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	833					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCGTGCAGTTCGCTGTGTTCT	0.458000													37	6					0	0	1	0	0
PPP5C	5536	broad.mit.edu	37	19	46890450	46890450	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:46890450C>T	ENST00000012443.4	+	8	1108	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	PPP5C_ENST00000391919.1_Silent_p.F207F	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	335	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	p.F335fs*15(2)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GCGAGGTGTTCGAGTGGCTCC	0.592000													28	21					0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180475237	180475237	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:180475237C>A	ENST00000327705.9	+	3	651	c.420C>A	c.(418-420)ttC>ttA	p.F140L	BTNL9_ENST00000515271.1_Missense_Mutation_p.F71L|BTNL9_ENST00000376841.2_Missense_Mutation_p.F140L|BTNL9_ENST00000376842.3_Missense_Mutation_p.F140L	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	140						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGACAACTTCTCTGGCGAAG	0.582000													34	39					2.87052e-16	3.52081e-16	1	1	0
GALNT6	11226	broad.mit.edu	37	12	51752026	51752026	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:51752026G>A	ENST00000543196.2	-	8	1593	c.1388C>T	c.(1387-1389)tCg>tTg	p.S463L	GALNT6_ENST00000356317.3_Missense_Mutation_p.S463L			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	463					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CAGTCGTTCCGAAATGTCACC	0.478000													62	66					0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823874	47823874	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:47823874G>T	ENST00000355085.3	+	2	862	c.840G>T	c.(838-840)aaG>aaT	p.K280N		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	280					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TGCTGAAGAAGCTGGACTCCC	0.562000													58	74					2.27459e-33	3.15075e-33	1	1	0
SLC9A5	6553	broad.mit.edu	37	16	67304668	67304668	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:67304668G>A	ENST00000299798.11	+	16	2311	c.2246G>A	c.(2245-2247)cGa>cAa	p.R749Q		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	749					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CCAAGCCCACGAATCATTCCC	0.512000													15	15					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53848871	53848871	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:53848871A>G	ENST00000458035.1	+	3	245	c.128A>G	c.(127-129)aAc>aGc	p.N43S	ZNF845_ENST00000595091.1_Missense_Mutation_p.N43S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AATTATAGGAACCTGGTCTCC	0.468000													68	90					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171614993	171614993	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:171614993T>G	ENST00000176763.5	-	1	397	c.54A>C	c.(52-54)agA>agC	p.R18S		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	18							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGCGGGACTTTCTCTTCTCGA	0.677000													23	16					0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207615672	207615672	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:207615672G>T	ENST00000374412.3	-	6	1313	c.1038C>A	c.(1036-1038)aaC>aaA	p.N346K	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.N346K|MDH1B_ENST00000449792.1_Missense_Mutation_p.N248K	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	346					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAAAAATCAAGTTTAAAACAG	0.318000													19	4					2.35188e-11	2.69617e-11	1	1	0
DACH1	1602	broad.mit.edu	37	13	72134059	72134059	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:72134059G>A	ENST00000305425.4	-	5	1756	c.1334C>T	c.(1333-1335)gCc>gTc	p.A445V	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.A497V	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	495					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CAGAGAGGGGGCAGGTGAGGG	0.547000													9	10					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155574087	155574087	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:155574087G>A	ENST00000461783.3	+	26	5398	c.4125G>A	c.(4123-4125)tcG>tcA	p.S1375S	TIAM2_ENST00000456144.1_Silent_p.S1404S|TIAM2_ENST00000456877.2_Silent_p.S687S|TIAM2_ENST00000528391.2_Silent_p.S711S|TIAM2_ENST00000367174.2_Silent_p.S751S|TIAM2_ENST00000360366.4_Silent_p.S1399S|TIAM2_ENST00000275246.7_Silent_p.S300S|TIAM2_ENST00000529824.2_Silent_p.S1404S|TIAM2_ENST00000318981.5_Silent_p.S1375S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1375	PH 2.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.S1375S(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TACAGCCCTCGAATTCCCGGC	0.512000													30	20					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21639519	21639519	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:21639519G>T	ENST00000328843.6	+	15	2813	c.2782G>T	c.(2782-2784)Gac>Tac	p.D928Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.D928Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	928	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCACGACTTAGACTTCTTTCT	0.398000									Kartagener syndrome				15	16					3.27435e-08	3.58418e-08	1	1	0
CPA6	57094	broad.mit.edu	37	8	68334861	68334861	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:68334861C>T	ENST00000297770.4	-	11	1407	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CPA6_ENST00000297769.4_Missense_Mutation_p.E154K	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	398					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.E398K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TCACGTAGTTCGAAAGCAAAT	0.383000													46	47					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	988795	988795	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:988795G>A	ENST00000315939.6	+	11	3073	c.2430G>A	c.(2428-2430)gcG>gcA	p.A810A	WNK1_ENST00000530271.2_Silent_p.A1308A|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000340908.4_Silent_p.A403A	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	810					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCCAGTTGCGACACAACCCT	0.507000													31	60					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863160	55863160	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:55863160A>G	ENST00000327335.4	-	1	762	c.763T>C	c.(763-765)Ttt>Ctt	p.F255L	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						ATGTAGATAAACATACAACTA	0.388000													19	98					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119170254	119170254	+	Silent	SNP	G	G	A	rs149533467	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:119170254G>A	ENST00000264033.4	+	16	2860	c.2484G>A	c.(2482-2484)ccG>ccA	p.P828P		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	828	Asp/Glu-rich (acidic).|Interaction with CD2AP.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		AACCATTCCCGCGGAGAATCA	0.512000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				93	105					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24567226	24567226	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:24567226C>T	ENST00000319715.4	+	6	954	c.522C>T	c.(520-522)tgC>tgT	p.C174C	RBBP6_ENST00000381039.3_Silent_p.C174C|RBBP6_ENST00000348022.2_Silent_p.C174C	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	174					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTAAGAATTGCCCAACAAATG	0.363000													19	15					0	0	1	0	0
AGR2	10551	broad.mit.edu	37	7	16839412	16839412	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:16839412C>A	ENST00000419304.2	-	5	438	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	AGR2_ENST00000401412.1_Nonsense_Mutation_p.E96*|AGR2_ENST00000419572.2_Nonsense_Mutation_p.E116*	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	96					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TTCTGGATTTCTTTATTTTCA	0.313000													6	11					0.0293803	0.0296024	1	1	0
ADCY9	115	broad.mit.edu	37	16	4039087	4039087	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:4039087C>A	ENST00000294016.3	-	6	2756	c.2218G>T	c.(2218-2220)Gat>Tat	p.D740Y		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	740					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AAAAAGTAATCTTTCATCAGG	0.453000													47	38					2.40228e-13	2.81878e-13	1	1	0
DZIP1	22873	broad.mit.edu	37	13	96238296	96238296	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:96238296C>T	ENST00000347108.3	-	19	2745	c.2313G>A	c.(2311-2313)gaG>gaA	p.E771E	DZIP1_ENST00000376829.2_Silent_p.E771E|DZIP1_ENST00000361156.3_Silent_p.E752E|DZIP1_ENST00000361396.2_Silent_p.E752E			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	771					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TGATAAACATCTCAGGGACAT	0.353000													17	17					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44890645	44890645	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:44890645C>A	ENST00000330997.4	-	4	1826	c.1762G>T	c.(1762-1764)Gaa>Taa	p.E588*	ZNF285_ENST00000544719.2_Nonsense_Mutation_p.E588*|ZNF285_ENST00000591679.1_Nonsense_Mutation_p.E595*|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TATAATGTTTCTCTCTGCTCA	0.448000													22	43					1.9806e-07	2.15298e-07	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155155991	155155991	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:155155991C>T	ENST00000357232.4	-	25	8447	c.8448G>A	c.(8446-8448)aaG>aaA	p.K2816K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAAAGATTTCTTCTCTTTTG	0.448000													66	94					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33236353	33236353	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:33236353C>T	ENST00000445902.2	-	7	840	c.622G>A	c.(622-624)Gca>Aca	p.A208T	VPS52_ENST00000436044.2_Missense_Mutation_p.A83T|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	208					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TCTCTGACTGCGGCTGCCTTG	0.612000													31	30					0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85892761	85892761	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:85892761C>T	ENST00000393822.3	-	6	685	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	SFTPB_ENST00000409383.1_Missense_Mutation_p.A196T|SFTPB_ENST00000519937.2_Missense_Mutation_p.A184T|SFTPB_ENST00000342375.3_Missense_Mutation_p.A184T			P07988	PSPB_HUMAN	surfactant protein B	184					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GCCTGGAGGGCCCCGGGCAGC	0.667000													35	43					0	0	1	0	0
NMD3	51068	broad.mit.edu	37	3	160968616	160968616	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:160968616G>A	ENST00000460469.1	+	15	1885	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	NMD3_ENST00000351193.2_Missense_Mutation_p.R477Q|NMD3_ENST00000472947.1_Missense_Mutation_p.R477Q			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	477	Necessary for the nuclear export of the 60S ribosomal subunit.				protein transport	cytoplasm|nucleolus|nucleoplasm		p.R477Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GGAGCACCTCGAATTAGTCTG	0.378000													34	43					0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	103054020	103054020	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:103054020T>C	ENST00000376131.4	-	1	104	c.9A>G	c.(7-9)aaA>aaG	p.K3K	RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGGGCACCGGTTTTACCATAG	0.413000													16	22					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976584	47976584	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:47976584G>A	ENST00000543600.1	-	2	681	c.642C>T	c.(640-642)atC>atT	p.I214I	PTCHD4_ENST00000339488.4_Silent_p.I231I			Q6ZW05	CF138_HUMAN	patched domain containing 4	231						integral to membrane	hedgehog receptor activity										TTCTGGCCAGGATGCTGGTCT	0.537000													23	30					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512840	248512840	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:248512840C>T	ENST00000317861.1	+	1	764	c.764C>T	c.(763-765)tCt>tTt	p.S255F		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TCATGCTCTTCTGTGTACCTC	0.502000													52	52					0	0	1	0	0
CSN1S1	1446	broad.mit.edu	37	4	70810685	70810685	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:70810685G>T	ENST00000246891.4	+	15	569	c.520G>T	c.(520-522)Gaa>Taa	p.E174*	CSN1S1_ENST00000505782.1_Nonsense_Mutation_p.E158*|CSN1S1_ENST00000444405.3_Nonsense_Mutation_p.E165*|CSN1S1_ENST00000507772.1_Nonsense_Mutation_p.E166*|CSN1S1_ENST00000507763.1_Nonsense_Mutation_p.E165*	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	174						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CACTGCTCATGAAAATTATGA	0.393000													56	66					2.14674e-31	2.9499e-31	1	1	0
TNFSF18	8995	broad.mit.edu	37	1	173010649	173010649	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:173010649G>T	ENST00000404377.3	-	3	458	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	TNFSF18_ENST00000239468.2_Missense_Mutation_p.S131Y|RP1-15D23.2_ENST00000432694.2_lincRNA	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	153					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TTGGATTTTAGATTTGTTTGT	0.373000													34	42					1.61788e-16	1.98668e-16	1	1	0
VPS13A	23230	broad.mit.edu	37	9	79959120	79959120	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:79959120G>A	ENST00000360280.3	+	51	7338	c.7078G>A	c.(7078-7080)Gaa>Aaa	p.E2360K	VPS13A_ENST00000376636.3_Missense_Mutation_p.E2321K|VPS13A_ENST00000376634.4_Missense_Mutation_p.E2360K|VPS13A_ENST00000357409.5_Missense_Mutation_p.E2360K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2360					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATTCAAGTCGAAAGGAGTGA	0.303000													47	45					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107569	168107569	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:168107569C>T	ENST00000409195.1	+	9	9756	c.9667C>T	c.(9667-9669)Cgt>Tgt	p.R3223C	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3001C|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3223C|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3048					actin cytoskeleton organization	cell junction	actin binding			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						AACACTTCGTCGTCAAATTAA	0.443000													42	49					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42490359	42490359	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:42490359G>A	ENST00000545399.1	-	5	572	c.419C>T	c.(418-420)gCg>gTg	p.A140V	ATP1A3_ENST00000602133.1_Missense_Mutation_p.A97V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A127V|ATP1A3_ENST00000543770.1_Missense_Mutation_p.A138V	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	127					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CACCACGGCCGCCAGCACGAT	0.607000													27	24					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179411907	179411907	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179411907C>T	ENST00000589042.1	-	340	94569	c.94345G>A	c.(94345-94347)Gaa>Aaa	p.E31449K	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22384K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E22576K|TTN_ENST00000359218.5_Missense_Mutation_p.E22509K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E28881K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29808K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29808	Fibronectin type-III 129.						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)			GTATTACGTTCTTTCTTCTCA	0.423000													121	147					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504364	70504364	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:70504364C>T	ENST00000310961.5	+	22	3176	c.2758C>T	c.(2758-2760)Cgc>Tgc	p.R920C	LRRC7_ENST00000415775.2_Missense_Mutation_p.R199C|LRRC7_ENST00000035383.5_Missense_Mutation_p.R915C			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	915						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AATCCACTGCCGCCCGGAATC	0.398000													35	41					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44115975	44115975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:44115975G>A	ENST00000262419.6	-	10	2940	c.2470C>T	c.(2470-2472)Cga>Tga	p.R824*	KANSL1_ENST00000575318.1_Nonsense_Mutation_p.R761*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.R824*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.R824*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.R824*|KANSL1_ENST00000393476.3_Nonsense_Mutation_p.R118*	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	824						MLL1 complex	protein binding										GAGAGCTGTCGCACCAAGGGA	0.562000													38	30					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183703142	183703142	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:183703142G>A	ENST00000382494.2	-	6	730	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	ABCC5_ENST00000427120.2_3'UTR|ABCC5_ENST00000334444.6_Intron|ABCC5_ENST00000392579.2_Intron|ABCC5_ENST00000265586.6_Intron	NM_001023587.1	NP_001018881.1	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	0	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CATTCTGACCGCAGAATACAG	0.473000													76	94					0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40429554	40429554	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:40429554C>A	ENST00000301825.3	+	2	124	c.6C>A	c.(4-6)ttC>ttA	p.F2L	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.F2L|ENTPD3_ENST00000445129.1_Missense_Mutation_p.F2L	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	2						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		AAAAGATGTTCACTGTGCTGA	0.517000													46	50					1.81118e-26	2.4275e-26	1	1	0
EPYC	1833	broad.mit.edu	37	12	91366725	91366725	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:91366725T>G	ENST00000261172.3	-	4	465	c.373A>C	c.(373-375)Agt>Cgt	p.S125R		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	125	LRRNT.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						ACGGTGGTACTTATACAAGTA	0.338000													33	53					0	0	1	0	0
SCYL3	57147	broad.mit.edu	37	1	169823675	169823675	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:169823675G>A	ENST00000367771.6	-	12	1957	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	SCYL3_ENST00000367772.4_Silent_p.I635I|SCYL3_ENST00000367770.1_Silent_p.I635I	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)		Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	p.I581I(1)|p.I635I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGGCGGCTCGATTTGGTCTG	0.443000													47	59					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131949322	131949322	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:131949322A>C	ENST00000286355.5	-	5	3570	c.1478T>G	c.(1477-1479)aTc>aGc	p.I493S	RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Missense_Mutation_p.I493S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	493					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAATTACCTGATGGTTTTGAT	0.498000										HNSCC(32;0.087)			28	52					0	0	1	0	0
ASGR2	433	broad.mit.edu	37	17	7005486	7005486	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:7005486G>A	ENST00000380952.2	-	8	957	c.693C>T	c.(691-693)ttC>ttT	p.F231F	ASGR2_ENST00000355035.5_Silent_p.F231F|ASGR2_ENST00000254850.7_Silent_p.F207F|ASGR2_ENST00000446679.2_Silent_p.F212F	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	231	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	TCCAGGTATTGAAGGGGTTCG	0.478000													121	142					0	0	1	0	0
NPS	594857	broad.mit.edu	37	10	129350805	129350805	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:129350805C>A	ENST00000398023.1	+	3	192	c.172C>A	c.(172-174)Cta>Ata	p.L58I		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	58					neuropeptide signaling pathway	extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						ACTAGCTTTTCTAAAGCCAAT	0.418000													139	129					3.16291e-68	4.5478e-68	1	1	0
RPAP1	26015	broad.mit.edu	37	15	41816367	41816367	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:41816367G>A	ENST00000304330.4	-	16	2277	c.2161C>T	c.(2161-2163)Cgg>Tgg	p.R721W	RPAP1_ENST00000561603.1_Missense_Mutation_p.R721W	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	721						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAGGCTATCCGCTGCATGGAC	0.617000													21	31					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	35145434	35145434	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:35145434G>T	ENST00000420428.2	-	1	566	c.171C>A	c.(169-171)ttC>ttA	p.F57L	CELF4_ENST00000591282.1_Missense_Mutation_p.F57L|CELF4_ENST00000412753.1_Missense_Mutation_p.F57L|CELF4_ENST00000601019.1_Missense_Mutation_p.F57L|CELF4_ENST00000591287.1_Missense_Mutation_p.F57L|CELF4_ENST00000361795.5_Missense_Mutation_p.F57L|CELF4_ENST00000588597.1_Missense_Mutation_p.F57L|CELF4_ENST00000334919.5_Missense_Mutation_p.F57L|CELF4_ENST00000603232.1_Missense_Mutation_p.F57L	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	57	RRM 1.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TCTGCCCAATGAACAGCTTGA	0.577000													25	34					2.21704e-12	2.5653e-12	1	1	0
SHANK2	22941	broad.mit.edu	37	11	70331552	70331552	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:70331552G>T	ENST00000338508.4	-	32	4848	c.4849C>A	c.(4849-4851)Ctc>Atc	p.L1617I	SHANK2_ENST00000449833.2_Missense_Mutation_p.L1021I|SHANK2_ENST00000409161.1_Missense_Mutation_p.L1020I|SHANK2_ENST00000423696.2_Missense_Mutation_p.L1237I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1237					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGGCCTGAGAGAATCGGGCTT	0.562000													39	61					1.04594e-18	1.31774e-18	1	1	0
CHD9	80205	broad.mit.edu	37	16	53265678	53265678	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:53265678G>A	ENST00000566029.1	+	10	2702	c.2493G>A	c.(2491-2493)agG>agA	p.R831R	CHD9_ENST00000398510.3_Silent_p.R831R|CHD9_ENST00000447540.1_Silent_p.R831R|CHD9_ENST00000564845.1_Silent_p.R831R			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	831	Chromo 2.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAGCTTCAAGGCCTGACACAA	0.323000													26	41					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145598618	145598618	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:145598618G>T	ENST00000265271.5	+	2	296	c.130G>T	c.(130-132)Gaa>Taa	p.E44*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.E44*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	44					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGAGAAAGAATTAAAAGC	0.333000													43	43					3.4345e-17	4.25364e-17	1	1	0
GRID2	2895	broad.mit.edu	37	4	94344113	94344113	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:94344113C>A	ENST00000282020.4	+	10	1797	c.1539C>A	c.(1537-1539)gtC>gtA	p.V513V	GRID2_ENST00000510992.1_Silent_p.V418V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	513					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GAGAACTTGTCTTTAAGGTAA	0.373000													18	27					3.41278e-10	3.84949e-10	1	1	0
DOCK7	85440	broad.mit.edu	37	1	62943449	62943449	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:62943449G>A	ENST00000251157.5	-	43	5556	c.5523C>T	c.(5521-5523)ttC>ttT	p.F1841F	DOCK7_ENST00000340370.5_Silent_p.F1821F|DOCK7_ENST00000489185.1_5'UTR	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1852	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CCAAATCCCCGAACTTGGTTC	0.398000													50	76					0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47558817	47558817	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:47558817C>A	ENST00000397748.1	-	11	1324	c.1281G>T	c.(1279-1281)aaG>aaT	p.K427N	FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Intron|FTCD_ENST00000355384.2_Intron|FTCD_ENST00000291670.5_Missense_Mutation_p.K427N|FTCD_ENST00000359679.2_Missense_Mutation_p.K427N|FTCD_ENST00000397746.3_Missense_Mutation_p.K427N			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	427	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CAGGTGTGTTCTTGGGGAGCC	0.632000													31	45					1.08312e-15	1.31309e-15	1	1	0
RNF145	153830	broad.mit.edu	37	5	158590012	158590012	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:158590012C>A	ENST00000424310.2	-	9	1556	c.1197G>T	c.(1195-1197)atG>atT	p.M399I	RNF145_ENST00000520638.1_Missense_Mutation_p.M413I|RNF145_ENST00000519865.1_Missense_Mutation_p.M399I|RNF145_ENST00000518802.1_Missense_Mutation_p.M429I|RNF145_ENST00000521606.2_Missense_Mutation_p.M416I|RNF145_ENST00000274542.2_Missense_Mutation_p.M427I	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	399						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGGCAAATCATATAAGCCA	0.348000													25	33					9.04412e-07	9.7125e-07	1	1	0
MEPE	56955	broad.mit.edu	37	4	88766655	88766655	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:88766655G>A	ENST00000497649.2	+	6	941	c.563G>A	c.(562-564)aGc>aAc	p.S188N	MEPE_ENST00000424957.3_Missense_Mutation_p.S212N|MEPE_ENST00000361056.3_Missense_Mutation_p.S212N|MEPE_ENST00000395102.4_Missense_Mutation_p.S243N|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000560249.1_Missense_Mutation_p.S99N|MEPE_ENST00000540395.1_Missense_Mutation_p.S99N			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	212					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAAAGCAAAAGCACCCATCGT	0.383000													47	70					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128326057	128326057	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:128326057A>C	ENST00000262462.4	+	4	1879	c.869A>C	c.(868-870)aAa>aCa	p.K290T	SLC27A6_ENST00000506176.1_Missense_Mutation_p.K290T|SLC27A6_ENST00000395266.1_Missense_Mutation_p.K290T			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	290					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTAAAGAAGAAATTTTCAGCA	0.358000													25	40					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106110012	106110012	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:106110012G>A	ENST00000390545.2	-	0	605																											CTTTGTTGGAGACCTTGCACT	0.612000													130	180					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247054351	247054351	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:247054351A>C	ENST00000366508.1	-	16	2198	c.2062T>G	c.(2062-2064)Tta>Gta	p.L688V	AHCTF1_ENST00000326225.3_Missense_Mutation_p.L662V|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.L653V			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	653	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTATTGCTTAAGTCTATCAGT	0.353000													26	28					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6626175	6626175	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:6626175G>A	ENST00000315579.5	+	10	1968	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R345Q	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	390	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CTCTTCACCCGAATTGTCCAG	0.463000													52	60					0	0	1	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098537	92098537	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:92098537C>A	ENST00000493463.2	-	1	2082	c.1159G>T	c.(1159-1161)Gac>Tac	p.D387Y	ERVW-1_ENST00000603053.1_Missense_Mutation_p.D387Y|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		387	Immunosuppression (By similarity).				syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						gttagcaagtctaaagctctt	0.443000													9	7					5.4927e-09	6.08361e-09	1	1	0
ESRRG	2104	broad.mit.edu	37	1	216692578	216692578	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:216692578G>A	ENST00000391890.3	-	8	1517	c.1000C>T	c.(1000-1002)Ctg>Ttg	p.L334L	ESRRG_ENST00000366937.1_Silent_p.L362L|ESRRG_ENST00000487276.1_Silent_p.L327L|ESRRG_ENST00000361525.3_Silent_p.L327L|ESRRG_ENST00000360012.3_Silent_p.L327L|ESRRG_ENST00000359162.2_Silent_p.L327L|ESRRG_ENST00000366940.2_Silent_p.L327L|ESRRG_ENST00000366938.2_Silent_p.L327L|ESRRG_ENST00000408911.3_Silent_p.L350L|ESRRG_ENST00000361395.2_Silent_p.L327L|ESRRG_ENST00000493603.1_Silent_p.L327L|ESRRG_ENST00000493748.1_Silent_p.L327L|ESRRG_ENST00000463665.1_Silent_p.L288L	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	350					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ACCAGCTGCAGGATAGCATTA	0.398000													21	24					0	0	1	0	0
RAD18	56852	broad.mit.edu	37	3	8983425	8983425	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:8983425C>A	ENST00000264926.2	-	5	446	c.330G>T	c.(328-330)aaG>aaT	p.K110N	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	110					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	p.K110N(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CAGCAAGATTCTTTGAAGAGG	0.408000								Rad6 pathway					31	50					2.68265e-12	3.10203e-12	1	1	0
ACOT12	134526	broad.mit.edu	37	5	80628325	80628325	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:80628325G>A	ENST00000307624.3	-	13	1390	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	454	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TTCGTGATACGAGTACTACCA	0.388000													23	21					0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146576485	146576485	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:146576485C>T	ENST00000281317.5	+	7	2366	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	MMAA_ENST00000541599.1_Missense_Mutation_p.R105W	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	386						mitochondrion	GTP binding|nucleoside-triphosphatase activity	p.R386W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCCACAGTCCGGGAACAGAT	0.483000													43	59					0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69127035	69127035	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:69127035C>A	ENST00000361055.4	-	3	151	c.97G>T	c.(97-99)Gac>Tac	p.D33Y	UBA3_ENST00000540295.1_5'UTR|UBA3_ENST00000349511.4_Missense_Mutation_p.D19Y|UBA3_ENST00000415609.2_Missense_Mutation_p.D19Y	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	33					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		CCTTCCCAGTCTCCAGTGTCC	0.468000													106	126					3.33086e-37	4.65377e-37	1	1	0
SLC25A30	253512	broad.mit.edu	37	13	45973125	45973125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:45973125G>A	ENST00000539591.1	-	7	713	c.550C>T	c.(550-552)Cga>Tga	p.R184*				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	235					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		CTGCCATCTCGAAGCACTCTC	0.473000													31	45					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122768571	122768571	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:122768571A>T	ENST00000264499.4	-	10	1208	c.1025T>A	c.(1024-1026)aTt>aAt	p.I342N	BBS7_ENST00000506636.1_Missense_Mutation_p.I342N	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	342					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAAGGAAGAAATTTTATTCTG	0.338000									Bardet-Biedl syndrome				38	52					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	424307	424307	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:424307G>A	ENST00000256509.2	+	18	2771	c.2129G>A	c.(2128-2130)aGa>aAa	p.R710K	CHL1_ENST00000397491.2_Missense_Mutation_p.R694K|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	694					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GAAGTAGGGAGAAGTCAGCCT	0.463000													33	48					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869757	52869757	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:52869757G>A	ENST00000601151.1	+	5	1449	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	ZNF610_ENST00000321287.8_Missense_Mutation_p.E376K|ZNF610_ENST00000403906.3_Missense_Mutation_p.E376K|ZNF610_ENST00000327920.8_Missense_Mutation_p.E376K	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E376K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		CAAATGTAACGAATGTGGAAG	0.403000													37	57					0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38813721	38813721	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:38813721G>T	ENST00000476049.1	-	5	583	c.542C>A	c.(541-543)tCt>tAt	p.S181Y	KRT222_ENST00000394052.3_Missense_Mutation_p.S181Y			Q8N1A0	KT222_HUMAN	keratin 222	181						intermediate filament	structural molecule activity	p.S181Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TGTAGTAAAAGATATTTCATT	0.269000													5	6					0.217242	0.217569	1	1	0
SNTN	132203	broad.mit.edu	37	3	63638419	63638419	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:63638419C>T	ENST00000496807.1	+	1	46	c.44C>T	c.(43-45)cCc>cTc	p.P15L	SNTN_ENST00000343837.3_Missense_Mutation_p.P19L			A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	19						cilium	calcium ion binding			endometrium(2)|ovary(1)	3						GAAGGAGATCCCAATCCTTCT	0.478000													19	15					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49327568	49327568	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:49327568C>T	ENST00000559471.1	-	3	754	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.R164Q	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	164								p.R164Q(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GTTTCTGCTTCGATGGCTGGA	0.413000													39	44					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85561676	85561676	+	Silent	SNP	C	C	A	rs145589580		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:85561676C>A	ENST00000294664.6	+	11	1416	c.1236C>A	c.(1234-1236)atC>atA	p.I412I	WDR63_ENST00000326813.8_Silent_p.I373I|WDR63_ENST00000370596.1_Silent_p.I373I	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	412										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATCCTAATATCATTGCTGGAG	0.378000													35	51					7.11191e-15	8.52502e-15	1	1	0
E2F7	144455	broad.mit.edu	37	12	77421679	77421679	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:77421679A>G	ENST00000322886.7	-	11	2359	c.2124T>C	c.(2122-2124)tgT>tgC	p.C708C	E2F7_ENST00000416496.2_Silent_p.C708C	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	708					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GAGACTGCACACAAAGATATT	0.398000													27	33					0	0	1	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233531	56233531	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:56233531C>T	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							CTGTTAATTTCTCATGCTTGG	0.572000													3	5					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35147085	35147085	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:35147085G>A	ENST00000381318.3	+	13	1646	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	ITSN1_ENST00000399349.1_Missense_Mutation_p.R453Q|ITSN1_ENST00000381291.4_Missense_Mutation_p.R453Q|ITSN1_ENST00000437442.2_Missense_Mutation_p.R453Q|ITSN1_ENST00000379960.5_Missense_Mutation_p.R453Q|ITSN1_ENST00000399352.1_Missense_Mutation_p.R453Q|ITSN1_ENST00000399367.3_Missense_Mutation_p.R453Q|ITSN1_ENST00000399353.1_Missense_Mutation_p.R416Q|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Missense_Mutation_p.R453Q|ITSN1_ENST00000381285.4_Missense_Mutation_p.R453Q|ITSN1_ENST00000399326.3_Missense_Mutation_p.R453Q|ITSN1_ENST00000399338.4_Missense_Mutation_p.R453Q	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	453	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAACGGAATCGAAGGCAAGAA	0.368000													37	32					0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73351596	73351596	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:73351596C>T	ENST00000377767.4	-	4	716	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	DIS3_ENST00000377780.4_Missense_Mutation_p.E176K|DIS3_ENST00000545453.1_Missense_Mutation_p.E44K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	206					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TCTATGAGTTCGGGGTTAGCA	0.299000										Multiple Myeloma(4;0.011)			14	23					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	32009687	32009687	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:32009687G>A	ENST00000432498.1	+	26	3142	c.2749G>A	c.(2749-2751)Gca>Aca	p.A917T	SFI1_ENST00000400288.2_Missense_Mutation_p.A948T|SFI1_ENST00000540643.1_Missense_Mutation_p.A893T|SFI1_ENST00000414585.1_Missense_Mutation_p.A795T|SFI1_ENST00000400289.1_Missense_Mutation_p.A866T|SFI1_ENST00000443326.1_Missense_Mutation_p.A866T|SFI1_ENST00000443011.1_Missense_Mutation_p.A795T	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	948					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GGCAGCCATCGCACCCAGCAG	0.652000													8	25					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83346520	83346520	+	Silent	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:83346520T>G	ENST00000261722.3	-	12	1488	c.1281A>C	c.(1279-1281)gcA>gcC	p.A427A	AP3B2_ENST00000535348.1_Silent_p.A395A|AP3B2_ENST00000535359.1_Silent_p.A427A|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	427					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGATTGTGGCTGCCACAAAGT	0.547000													9	11					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104715210	104715210	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:104715210A>C	ENST00000334877.4	+	8	1211	c.677A>C	c.(676-678)aAa>aCa	p.K226T	KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Missense_Mutation_p.K226T|KMT2E_ENST00000257745.4_Missense_Mutation_p.K226T|KMT2E_ENST00000311117.3_Missense_Mutation_p.K226T					lysine (K)-specific methyltransferase 2E																		GTTAATGATAAAAGAAGGAAA	0.368000													38	24					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199813	155199813	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:155199813C>A	ENST00000460012.1	-	23	4269	c.3912G>T	c.(3910-3912)gaG>gaT	p.E1304D	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.E1304D|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.E1304D|PLCH1_ENST00000340059.7_Missense_Mutation_p.E1342D			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1342					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E1304D(1)|p.E1342D(1)		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)			CTATTACATCCTCCAGGGTCA	0.468000													28	39					4.59853e-10	5.17056e-10	1	1	0
IFI16	3428	broad.mit.edu	37	1	158984705	158984705	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:158984705G>C	ENST00000295809.7	+	2	490	c.235G>C	c.(235-237)Gct>Cct	p.A79P	IFI16_ENST00000368131.4_Missense_Mutation_p.A79P|IFI16_ENST00000448393.2_Missense_Mutation_p.A79P|IFI16_ENST00000340979.6_Missense_Mutation_p.A79P|IFI16_ENST00000368132.3_Missense_Mutation_p.A79P|IFI16_ENST00000359709.3_Missense_Mutation_p.A79P|IFI16_ENST00000430894.2_Missense_Mutation_p.A83P			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	79	DAPIN.|Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGAAGACCTGGCTGAAACTCT	0.423000													30	57					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200528497	200528497	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:200528497T>G	ENST00000367350.4	-	27	4752	c.4314A>C	c.(4312-4314)gaA>gaC	p.E1438D		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1438	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CATGCTGAAGTTCTTTTGCTT	0.303000													17	21					0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57035865	57035865	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:57035865G>T	ENST00000308031.5	+	5	562	c.429G>T	c.(427-429)aaG>aaT	p.K143N	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TGTTTAGCAAGAAAGAAATAA	0.338000													17	16					1.5739e-10	1.78284e-10	1	1	0
SERPINA5	5104	broad.mit.edu	37	14	95053956	95053956	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:95053956G>T	ENST00000329597.7	+	3	467	c.257G>T	c.(256-258)aGc>aTc	p.S86I	SERPINA5_ENST00000554276.1_Missense_Mutation_p.S86I|SERPINA5_ENST00000553780.1_Missense_Mutation_p.S86I|SERPINA5_ENST00000554866.1_Missense_Mutation_p.S86I	NM_000624.5	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	86					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GCTGGGTCCAGCACAAAGATG	0.597000													22	26					2.21704e-12	2.5653e-12	1	1	0
HRASLS5	117245	broad.mit.edu	37	11	63231058	63231058	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:63231058C>T	ENST00000540857.1	-	6	859	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	HRASLS5_ENST00000539221.1_Missense_Mutation_p.R236H|HRASLS5_ENST00000301790.4_Missense_Mutation_p.A253T	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	253										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCCATCAGGGCGTGCTCTACC	0.512000													33	48					0	0	1	0	0
CCDC113	29070	broad.mit.edu	37	16	58286717	58286717	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:58286717G>A	ENST00000219299.4	+	2	267	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	CCDC113_ENST00000443128.2_Missense_Mutation_p.R63Q	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	63						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						CGACCTCCACGATTATCAGAA	0.398000													31	57					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244736009	244736009	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:244736009A>C	ENST00000366534.4	+	11	1939	c.1885A>C	c.(1885-1887)Aaa>Caa	p.K629Q	C1orf101_ENST00000366531.3_Missense_Mutation_p.K478Q|C1orf101_ENST00000366533.4_Missense_Mutation_p.K629Q|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	629						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TTATGGCCCAAAAATATTACA	0.363000													20	32					0	0	1	0	0
AKR1C2	1646	broad.mit.edu	37	10	5046020	5046020	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:5046020G>A	ENST00000380753.4	-	1	195	c.8C>T	c.(7-9)tCg>tTg	p.S3L	AKR1C2_ENST00000455190.1_Missense_Mutation_p.S3L|AKR1C2_ENST00000407674.1_Missense_Mutation_p.S3L|AKR1C2_ENST00000421196.3_Missense_Mutation_p.S3L	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	3					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	CTGGTATTTCGAATCCATTTC	0.478000													49	44					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19770598	19770598	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:19770598G>A	ENST00000357324.6	-	3	515	c.489C>T	c.(487-489)ggC>ggT	p.G163G	ATP13A1_ENST00000291503.5_Silent_p.G45G	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	163					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCCCGTCTTCGCCCTGCGGTA	0.587000													12	14					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107419825	107419825	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:107419825C>T	ENST00000429433.2	-	4	819	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	BEND3_ENST00000369042.1_Missense_Mutation_p.R57Q	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	57										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CAGCTGCTTTCGTTTGCTGGA	0.597000													55	48					0	0	1	0	0
KIAA1430	57587	broad.mit.edu	37	4	186111603	186111603	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:186111603C>A	ENST00000458385.2	-	2	867	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	KIAA1430_ENST00000296775.6_Missense_Mutation_p.D250Y|KIAA1430_ENST00000514798.1_Missense_Mutation_p.D250Y	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	250										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GTCACAGTATCTTCAGACTCC	0.398000													13	12					7.93312e-07	8.52627e-07	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40696685	40696685	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:40696685G>T	ENST00000298910.7	+	26	3648		c.e26+1		LRRK2_ENST00000343742.2_Splice_Site	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATCTTCCACAGTAAGTTTATT	0.299000													34	39					1.56442e-22	2.04386e-22	1	1	0
NSF	4905	broad.mit.edu	37	17	44803958	44803958	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:44803958T>G	ENST00000398238.4	+	16	1912	c.1805T>G	c.(1804-1806)gTg>gGg	p.V602G	NSF_ENST00000225282.8_Missense_Mutation_p.V508G|NSF_ENST00000575068.1_Missense_Mutation_p.V597G	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	602					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TGTGTGGTTGTGGATGACATT	0.368000													47	55					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5048806	5048806	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:5048806G>A	ENST00000574788.1	+	27	4329	c.2099G>A	c.(2098-2100)cGa>cAa	p.R700Q	USP6_ENST00000304328.5_Missense_Mutation_p.R383Q|USP6_ENST00000250066.6_Missense_Mutation_p.R700Q|USP6_ENST00000332776.4_Missense_Mutation_p.R700Q			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	700					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R700Q(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATAAGTGTCCGATTTGACCCT	0.368000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								29	45					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925924	70925924	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:70925924G>T	ENST00000603540.1	+	2	1966	c.1708G>T	c.(1708-1710)Gac>Tac	p.D570Y	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.D570Y	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	570	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAATGTGAGAGACATTCCTCT	0.398000													5	70					9.16793e-09	1.01164e-08	1	1	0
CCDC36	339834	broad.mit.edu	37	3	49293883	49293883	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:49293883T>G	ENST00000438782.1	+	8	1189	c.953T>G	c.(952-954)tTt>tGt	p.F318C	CCDC36_ENST00000452691.2_Missense_Mutation_p.F318C|CCDC36_ENST00000296449.5_Missense_Mutation_p.F318C			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	318										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CCTGGAGAATTTGATGTCTGG	0.502000													51	54					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640604	99640604	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:99640604C>A	ENST00000547776.2	-	13	1794	c.1795G>T	c.(1795-1797)Gaa>Taa	p.E599*	ANKS1B_ENST00000329257.7_Nonsense_Mutation_p.E599*|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Nonsense_Mutation_p.E179*	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	599						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.E599*(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGATCATATTCTTTTGGGGGA	0.458000													105	120					2.66069e-56	3.80618e-56	1	1	0
GAN	8139	broad.mit.edu	37	16	81399016	81399016	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:81399016C>T	ENST00000568107.2	+	9	1597	c.1435C>T	c.(1435-1437)Cgt>Tgt	p.R479C		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin						cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				AGTCCGAAGTCGTGAGGACGC	0.498000													90	115					0	0	1	0	0
GSG1L	146395	broad.mit.edu	37	16	27974485	27974485	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:27974485G>A	ENST00000447459.2	-	2	473	c.389C>T	c.(388-390)tCg>tTg	p.S130L	GSG1L_ENST00000395724.3_Missense_Mutation_p.S130L|GSG1L_ENST00000380898.2_5'UTR	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	130						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						ACCTTTCTCCGATGCCGGGGC	0.537000													17	27					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97822237	97822237	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:97822237C>T	ENST00000297293.5	+	11	2753	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	820					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTACCTCCTTCGAAACAGAAG	0.537000													54	56					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162895659	162895659	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:162895659A>C	ENST00000360534.3	-	6	962	c.402T>G	c.(400-402)atT>atG	p.I134M		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	134					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TTAAATCATAAATGTCATATG	0.343000													23	23					0	0	1	0	0
LASP1	3927	broad.mit.edu	37	17	37074951	37074951	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:37074951G>A	ENST00000318008.6	+	7	1037	c.706G>A	c.(706-708)Gac>Aac	p.D236N	LASP1_ENST00000433206.2_Missense_Mutation_p.D180N|LASP1_ENST00000435347.3_Missense_Mutation_p.D236N	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	236	SH3.					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						GCAGCAGATCGACGACGGCTG	0.667000			T	MLL	AML								77	85					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	70053443	70053443	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:70053443C>T	ENST00000395889.2	-	9	726	c.571G>A	c.(571-573)Gca>Aca	p.A191T	TEX11_ENST00000344304.3_Splice_Site_p.A191T|TEX11_ENST00000374333.2_Splice_Site_p.A176T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	191							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TGAGCAACTGCCTGAAAAAGA	0.343000													16	1					0	0	1	0	0
AKT2	208	broad.mit.edu	37	19	40740861	40740861	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:40740861C>T	ENST00000579047.1	-	12	1572	c.1271G>A	c.(1270-1272)cGa>cAa	p.R424Q	AKT2_ENST00000311278.6_Intron|AKT2_ENST00000392038.2_Intron|AKT2_ENST00000424901.1_Intron			P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	116	AGC-kinase C-terminal.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CGGGGGCCTTCGAGGGCCCTC	0.627000			A		"""ovarian, pancreatic """								4	4					0	0	1	0	0
MFGE8	4240	broad.mit.edu	37	15	89442725	89442725	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:89442725C>A	ENST00000539437.1	-	9	1177	c.1041G>T	c.(1039-1041)aaG>aaT	p.K347N	MFGE8_ENST00000268150.8_Missense_Mutation_p.K355N|MFGE8_ENST00000542878.1_Missense_Mutation_p.K311N|MFGE8_ENST00000566497.1_Missense_Mutation_p.K355N|MFGE8_ENST00000268151.7_Missense_Mutation_p.K303N			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	355	F5/8 type C 2.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAAACAAGTTCTTCTTGTGGG	0.632000													122	164					1.78676e-68	2.56979e-68	1	1	0
POLR1E	64425	broad.mit.edu	37	9	37487872	37487872	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:37487872G>T	ENST00000377792.3	+	2	667	c.379G>T	c.(379-381)Gat>Tat	p.D127Y	POLR1E_ENST00000377798.4_Missense_Mutation_p.D65Y|POLR1E_ENST00000442009.2_5'UTR			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	127					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		AGCTGAAACAGATAGGCTCTC	0.448000													26	42					5.60225e-13	6.54045e-13	1	1	0
STARD3	10948	broad.mit.edu	37	17	37818531	37818531	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:37818531C>T	ENST00000336308.5	+	14	1385	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	STARD3_ENST00000580611.1_Silent_p.I363I|STARD3_ENST00000544210.2_Silent_p.I389I|STARD3_ENST00000394250.4_Silent_p.I371I	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	389	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGGGCTTCATCGTGCTCAAGT	0.587000													10	12					0	0	1	0	0
CCDC110	256309	broad.mit.edu	37	4	186379494	186379494	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:186379494G>A	ENST00000307588.3	-	6	2322	c.2247C>T	c.(2245-2247)taC>taT	p.Y749Y	CCDC110_ENST00000393540.3_Silent_p.Y712Y|CCDC110_ENST00000510617.1_Silent_p.Y749Y	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	749						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TGCTTCTTACGTAATTTTCTA	0.284000													9	10					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31126558	31126558	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:31126558G>A	ENST00000304166.4	+	11	1114	c.825G>A	c.(823-825)ggG>ggA	p.G275G	ADCYAP1R1_ENST00000396211.2_Splice_Site_p.G275G|ADCYAP1R1_ENST00000409489.1_Splice_Site_p.G275G|ADCYAP1R1_ENST00000409363.1_Splice_Site_p.G254G	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	275					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TTCTCCCAGGGACCCCAACTG	0.542000													51	89					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130281347	130281347	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:130281347T>C	ENST00000257359.6	-	6	2421	c.1715A>G	c.(1714-1716)tAc>tGc	p.Y572C		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	572	TSP type-1 1.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCATGACTGGTACTTGGCTCT	0.577000													48	48					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812876	45812876	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:45812876G>A	ENST00000358525.4	-	6	883	c.768C>T	c.(766-768)ttC>ttT	p.F256F	SLC6A20_ENST00000353278.4_Silent_p.F219F|SLC6A20_ENST00000456124.2_Silent_p.F256F	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	256					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.F256F(1)|p.F219F(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)		TCAGGCTGCCGAAGCCCAGGC	0.572000													34	35					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77691805	77691805	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:77691805G>T	ENST00000298351.4	+	6	494		c.e6+1		RP11-463C8.4_ENST00000557752.1_3'UTR	NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C							integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TAACAATGAAGTAAGTGCCCG	0.587000													22	33					7.16444e-05	7.46833e-05	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1272412	1272412	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:1272412A>C	ENST00000447027.1	+	31	14369	c.14311A>C	c.(14311-14313)Acc>Ccc	p.T4771P	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4768P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4768	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCAGCACAGACCACCACACC	0.582000													64	61					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68170016	68170016	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:68170016A>G	ENST00000262215.3	-	17	2866	c.2477T>C	c.(2476-2478)gTt>gCt	p.V826A	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.V280A	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	826	SEC7.				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATAAGCCAAAACATAAGCTGT	0.313000													46	58					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178580519	178580519	+	Silent	SNP	G	G	A	rs147438064	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:178580519G>A	ENST00000251582.7	-	9	1589	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	ADAMTS2_ENST00000274609.5_Silent_p.F496F	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	496	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGCCCAGGCCGAAGTCAAAGC	0.672000													14	23					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68956806	68956806	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:68956806G>T	ENST00000288368.4	+	8	1201	c.924G>T	c.(922-924)gaG>gaT	p.E308D	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	308	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			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						TGGAAGTGGAGAATGTGGATG	0.413000													12	80					2.31682e-05	2.43029e-05	1	1	0
PRRC1	133619	broad.mit.edu	37	5	126874763	126874763	+	Missense_Mutation	SNP	G	G	A	rs138177009	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:126874763G>A	ENST00000442138.2	+	7	1099	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	PRRC1_ENST00000512635.2_Missense_Mutation_p.R318Q|PRRC1_ENST00000296666.8_Missense_Mutation_p.R318Q			Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	318						Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		AGCTTGCGTCGAACTGGGGTG	0.378000													10	74					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43818498	43818498	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:43818498G>T	ENST00000382031.1	+	5	5572	c.5541G>T	c.(5539-5541)gaG>gaT	p.E1847D	MAP1A_ENST00000399453.1_Missense_Mutation_p.E1609D|MAP1A_ENST00000300231.5_Missense_Mutation_p.E1609D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1609						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCATGGAAGAGAAGTTAGAAG	0.517000													4	84					0.00116845	0.00119626	1	1	0
KDM4C	23081	broad.mit.edu	37	9	6893228	6893228	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:6893228A>C	ENST00000381309.3	+	8	1482	c.917A>C	c.(916-918)aAa>aCa	p.K306T	KDM4C_ENST00000536108.1_Missense_Mutation_p.K125T|KDM4C_ENST00000543771.1_Missense_Mutation_p.K306T|KDM4C_ENST00000442236.2_Missense_Mutation_p.K125T|KDM4C_ENST00000381306.3_Missense_Mutation_p.K306T|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000535193.1_Missense_Mutation_p.K328T	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	306	JmjC.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AAAGTTGCCAAATTGGTAAGC	0.353000													26	32					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33502627	33502627	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:33502627C>T	ENST00000254260.3	-	6	586	c.551G>A	c.(550-552)cGa>cAa	p.R184Q	RHPN2_ENST00000400226.4_Missense_Mutation_p.R33Q	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	184	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CGGGAAGAATCGACTCTCGAC	0.577000													33	34					0	0	1	0	0
GNPAT	8443	broad.mit.edu	37	1	231396380	231396380	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:231396380T>G	ENST00000366647.4	+	3	558	c.389T>G	c.(388-390)tTt>tGt	p.F130C	GNPAT_ENST00000366646.3_Missense_Mutation_p.F69C	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	130					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				AGCAAAGTATTTAAACAAATT	0.353000													134	142					0	0	1	0	0
IFI44L	10964	broad.mit.edu	37	1	79101043	79101043	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:79101043G>T	ENST00000370751.5	+	5	924	c.745G>T	c.(745-747)Gat>Tat	p.D249Y	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_5'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like							cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TTCTGTTAAAGATGGAAAAAA	0.373000													30	34					3.73148e-12	4.31108e-12	1	1	0
HAUS4	54930	broad.mit.edu	37	14	23424386	23424386	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:23424386C>T	ENST00000206474.7	-	2	231		c.e2-1		RP11-298I3.5_ENST00000555074.1_Intron|HAUS4_ENST00000541587.1_Splice_Site|HAUS4_ENST00000555367.1_Splice_Site|HAUS4_ENST00000397409.4_Splice_Site|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000555986.1_Splice_Site|HAUS4_ENST00000490506.1_Splice_Site|HAUS4_ENST00000342454.8_Splice_Site|HAUS4_ENST00000347758.2_Splice_Site			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4						cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						GGATTCTAATCTGTGGAACCA	0.423000													37	52					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818785	159818785	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:159818785G>A	ENST00000497452.1	-	0	517																											CAGCCTCTTCGAAGACAAAAA	0.493000													84	119					0	0	1	0	0
MRC1	4360	broad.mit.edu	37	10	17865153	17865153	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:17865153G>A	ENST00000331429.2	+	2	245	c.142G>A	c.(142-144)Gct>Act	p.A48T	MRC1L1_ENST00000457317.1_Missense_Mutation_p.A48T																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCAAACCGCAGCTTGCAACCA	0.448000													16	21					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174870036	174870036	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:174870036G>A	ENST00000393752.2	-	2	1059	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	23					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GTGAGGATACGAACAGAGAAG	0.577000													55	65					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24750721	24750721	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:24750721C>A	ENST00000336930.6	+	2	135	c.69C>A	c.(67-69)gaC>gaA	p.D23E	LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	23						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTAGACAGGACTATGAAGAGC	0.423000													20	42					1.01871e-10	1.15764e-10	1	1	0
FRMPD3	84443	broad.mit.edu	37	X	106768874	106768874	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:106768874C>A	ENST00000276185.4	+	2	84	c.84C>A	c.(82-84)ctC>ctA	p.L28L	FRMPD3-AS1_ENST00000415252.1_RNA			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	28						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AACAGGAACTCTTTTCCAGGT	0.448000													32	3					3.03874e-20	3.89651e-20	1	1	0
FAT3	120114	broad.mit.edu	37	11	92086977	92086977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:92086977C>T	ENST00000298047.6	+	1	1716	c.1699C>T	c.(1699-1701)Cga>Tga	p.R567*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.R417*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.R567*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.R567*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	567	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R567*(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTGACTATTCGAATAGGAAA	0.438000										TCGA Ovarian(4;0.039)			24	27					0	0	1	0	0
SNX18	112574	broad.mit.edu	37	5	53814730	53814730	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:53814730C>T	ENST00000343017.6	+	1	1142	c.948C>T	c.(946-948)ttC>ttT	p.F316F	SNX18_ENST00000381410.4_Silent_p.F316F|SNX18_ENST00000326277.3_Silent_p.F316F	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	316	PX.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				ACAAGCACTTCGACTGGCTGT	0.627000													37	33					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30725717	30725717	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:30725717G>T	ENST00000361762.2	+	1	3681	c.2673G>T	c.(2671-2673)gtG>gtT	p.V891V	PCDH7_ENST00000543491.1_Silent_p.V891V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	891					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TTATGACGGTGATTCTAATCA	0.418000													25	57					1.38267e-23	1.81979e-23	1	1	0
CNTN2	6900	broad.mit.edu	37	1	205031669	205031669	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:205031669C>A	ENST00000331830.4	+	10	1496	c.1212C>A	c.(1210-1212)atC>atA	p.I404I		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	404	Ig-like C2-type 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACGGTACCATCTACGCCAGCG	0.597000													34	37					2.68265e-12	3.10203e-12	1	1	0
OR5AS1	219447	broad.mit.edu	37	11	55798842	55798842	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:55798842A>G	ENST00000313555.1	+	1	948	c.948A>G	c.(946-948)ttA>ttG	p.L316L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AATGGTATTTAAATCGTTTAA	0.274000													31	30					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57381961	57381961	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:57381961C>A	ENST00000403558.1	+	7	1905	c.1539C>A	c.(1537-1539)gtC>gtA	p.V513V	SERPING1_ENST00000378324.2_Silent_p.V418V|SERPING1_ENST00000378323.4_Silent_p.V475V|SERPING1_ENST00000340687.6_Silent_p.V433V|SERPING1_ENST00000278407.4_Silent_p.V470V	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	470					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCCTGCTGGTCTTTGAAGTGC	0.612000													22	33					3.62473e-10	4.08079e-10	1	1	0
NPDC1	56654	broad.mit.edu	37	9	139934308	139934308	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:139934308T>G	ENST00000371600.3	-	8	1800	c.1128A>C	c.(1126-1128)gaA>gaC	p.E376D	NPDC1_ENST00000371601.4_Missense_Mutation_p.E298D			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	298						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GCACCTCCATTTCCCCGGTCT	0.677000													16	32					0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183533167	183533167	+	Splice_Site	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:183533167T>G	ENST00000413720.1	-	10	1140		c.e10-2		NCF2_ENST00000367536.1_Splice_Site|NCF2_ENST00000367535.3_Splice_Site|NCF2_ENST00000418089.1_Splice_Site|NCF2_ENST00000469280.1_5'UTR	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2						cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						GTTTCTGGCCTGAATGGAAAA	0.448000													75	63					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10748335	10748335	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:10748335T>C	ENST00000586078.1	+	17	1716	c.1607T>C	c.(1606-1608)tTt>tCt	p.F536S	SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000407327.4_Missense_Mutation_p.F534S|SLC44A2_ENST00000335757.5_Missense_Mutation_p.F536S	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	536					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GAGAACAAGTTTGCCAAGTGC	0.507000													47	52					0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105239740	105239740	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:105239740T>G	ENST00000258538.3	-	8	1395	c.1268A>C	c.(1267-1269)aAt>aCt	p.N423T		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	423						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						GGCCACCAAATTACCACCAAT	0.388000													24	25					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133909963	133909963	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:133909963C>T	ENST00000220616.4	+	12	3111	c.3071C>T	c.(3070-3072)tCg>tTg	p.S1024L	TG_ENST00000377869.1_Missense_Mutation_p.S1024L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1024	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTCTGCGGTCGGGCCCCTAC	0.582000													59	57					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506224	178506224	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:178506224G>T	ENST00000315475.6	+	5	1097	c.791G>T	c.(790-792)aGa>aTa	p.R264I		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCTCATCAGAGAATTCATACT	0.388000													35	42					3.6622e-26	4.90101e-26	1	1	0
AKAP6	9472	broad.mit.edu	37	14	33293276	33293276	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:33293276C>A	ENST00000280979.4	+	13	6427	c.6257C>A	c.(6256-6258)tCa>tAa	p.S2086*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2086					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GCTCCTACTTCATTAACTCAA	0.423000													38	33					4.62619e-21	5.96939e-21	1	1	0
LENG1	79165	broad.mit.edu	37	19	54662154	54662154	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:54662154G>A	ENST00000222224.3	-	2	364	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	60										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGCTCAGGCAGTGAGTTCTGA	0.537000													43	58					0	0	1	0	0
ASNA1	439	broad.mit.edu	37	19	12849339	12849339	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:12849339T>C	ENST00000591090.1	+	3	278	c.176T>C	c.(175-177)gTc>gCc	p.V59A	ASNA1_ENST00000357332.3_Missense_Mutation_p.V59A			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	59					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	AGCCTGGCAGTCCAGCTCTCC	0.537000													45	46					0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107197722	107197722	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:107197722C>A	ENST00000282251.5	-	18	2626	c.2599G>T	c.(2599-2601)Gaa>Taa	p.E867*		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	867							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TCAAAGCTTTCTCGGATGCCT	0.393000													39	46					3.33393e-15	4.01714e-15	1	1	0
PRPS1	5631	broad.mit.edu	37	X	106871905	106871905	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:106871905C>A	ENST00000372435.4	+	1	169	c.47C>A	c.(46-48)tCt>tAt	p.S16Y	PRPS1_ENST00000372419.3_Missense_Mutation_p.S16Y|PRPS1_ENST00000372428.4_5'UTR|PRPS1_ENST00000543248.1_Missense_Mutation_p.S16Y	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	16					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						CAGGACTTATCTCAGAAAATT	0.542000													60	1					6.3091e-27	8.488e-27	1	1	0
ASPM	259266	broad.mit.edu	37	1	197057557	197057557	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:197057557C>A	ENST00000367409.4	-	26	10246	c.9990G>T	c.(9988-9990)gaG>gaT	p.E3330D	ASPM_ENST00000294732.7_Missense_Mutation_p.E1745D|ASPM_ENST00000367408.1_Missense_Mutation_p.E995D	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3330					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAGTAGTTTTCTCATACTTGA	0.303000													38	45					2.75727e-19	3.49775e-19	1	1	0
ACOX3	8310	broad.mit.edu	37	4	8407705	8407705	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:8407705G>A	ENST00000356406.5	-	7	830	c.753C>T	c.(751-753)ctC>ctT	p.L251L	ACOX3_ENST00000413009.2_Silent_p.L251L|ACOX3_ENST00000503233.1_Silent_p.L251L	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	251					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CGTTCTGCCCGAGTTTTTTTC	0.542000													80	94					0	0	1	0	0
SLC45A2	51151	broad.mit.edu	37	5	33951713	33951713	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:33951713C>T	ENST00000382102.3	-	5	1159	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	SLC45A2_ENST00000342059.3_Missense_Mutation_p.E309K|SLC45A2_ENST00000509381.1_3'UTR|SLC45A2_ENST00000345083.5_Missense_Mutation_p.E260K|SLC45A2_ENST00000296589.4_Missense_Mutation_p.E368K	NM_001012509.2	NP_001012527	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	368					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CATCCAACCTCGACTCCTCTT	0.458000													65	86					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156639595	156639595	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:156639595G>T	ENST00000368223.3	-	4	4517	c.4385C>A	c.(4384-4386)tCt>tAt	p.S1462Y		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1462	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACACTCACAGAATCAGACTC	0.642000													35	51					3.33393e-15	4.01714e-15	1	1	0
GPR116	221395	broad.mit.edu	37	6	46823737	46823737	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:46823737C>A	ENST00000283296.7	-	20	4223	c.3935G>T	c.(3934-3936)aGa>aTa	p.R1312I	GPR116_ENST00000545669.1_Missense_Mutation_p.R741I|GPR116_ENST00000265417.7_Missense_Mutation_p.R1312I|GPR116_ENST00000362015.4_Missense_Mutation_p.R1292I|GPR116_ENST00000456426.2_Missense_Mutation_p.R1170I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1312					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTGTTAAATCTCCTTGATAT	0.423000													11	15					0.00010058	0.000104397	1	1	0
CAMSAP2	23271	broad.mit.edu	37	1	200817844	200817844	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:200817844T>G	ENST00000358823.2	+	11	2217	c.1947T>G	c.(1945-1947)gaT>gaG	p.D649E	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.D633E|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.D660E	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	660						cytoplasm|microtubule	protein binding										TTCTTCAGGATTATGATATTC	0.423000													48	64					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74892605	74892605	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:74892605C>A	ENST00000241436.4	+	13	2259	c.2087C>A	c.(2086-2088)tCt>tAt	p.S696Y	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Missense_Mutation_p.S606Y|POLK_ENST00000352007.5_Missense_Mutation_p.S498Y|POLK_ENST00000504026.1_Intron|POLK_ENST00000508526.1_Missense_Mutation_p.S498Y	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	696					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAAGAAATATCTTCAGTAGAT	0.323000								DNA polymerases (catalytic subunits)					11	16					6.40141e-05	6.67685e-05	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11648335	11648335	+	Silent	SNP	C	C	T	rs141031112	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:11648335C>T	ENST00000262442.4	+	31	6401	c.6333C>T	c.(6331-6333)ttC>ttT	p.F2111F	DNAH9_ENST00000454412.2_Silent_p.F2111F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F2111F(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCCCAACTTCGAAGCTTTGG	0.527000													39	47					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139370234	139370234	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:139370234C>T	ENST00000313050.7	-	1	1907	c.1834G>A	c.(1834-1836)Gaa>Aaa	p.E612K	SEC16A_ENST00000371706.3_Missense_Mutation_p.E434K|SEC16A_ENST00000290037.6_Missense_Mutation_p.E434K|SEC16A_ENST00000431893.2_Missense_Mutation_p.E434K	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	434					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTTACCGGTTCGAAAGAACTA	0.522000													7	6					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10933880	10933880	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:10933880G>A	ENST00000298232.7	-	16	1312	c.945C>T	c.(943-945)atC>atT	p.I315I	TPTE_ENST00000361285.4_Silent_p.I333I|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.I295I	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	333	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I333I(1)|p.I315I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAATCGCTACGATGTTTTCAA	0.313000													40	147					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43400811	43400811	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:43400811C>T	ENST00000039989.4	+	2	202	c.188C>T	c.(187-189)cCt>cTt	p.P63L	RP11-484D2.5_ENST00000530042.1_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.P63L	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	63							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTGAAGCATCCTCATGACCTA	0.383000													67	103					0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89702486	89702486	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:89702486C>A	ENST00000264344.5	-	11	1495	c.1288G>T	c.(1288-1290)Gaa>Taa	p.E430*	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000508369.1_Nonsense_Mutation_p.E104*|FAM13A_ENST00000395002.2_Nonsense_Mutation_p.E104*|FAM13A_ENST00000513837.1_Nonsense_Mutation_p.E76*|FAM13A_ENST00000503556.1_Nonsense_Mutation_p.E90*	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	430					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E430*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GGAGTATTTTCTTTGTTGATA	0.323000													9	59					1.12685e-05	1.18835e-05	1	1	0
GNAS	2778	broad.mit.edu	37	20	57485818	57485818	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:57485818C>T	ENST00000371100.4	+	13	3600	c.3048C>T	c.(3046-3048)cgC>cgT	p.R1016R	GNAS_ENST00000306090.10_Silent_p.R359R|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Silent_p.R358R|GNAS_ENST00000354359.7_Silent_p.R374R|GNAS_ENST00000371102.4_Silent_p.R1002R|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Silent_p.R359R|GNAS_ENST00000371085.3_Silent_p.R373R	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	373					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGAACATCCGCCGTGTGTTCA	0.532000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			26	35					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23874978	23874978	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:23874978G>A	ENST00000405093.3	-	4	273	c.203C>T	c.(202-204)aCg>aTg	p.T68M	MYH6_ENST00000356287.3_Splice_Site_p.T68M	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	68	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CACAGTCACCGTCTGGAGGGG	0.612000													48	56					0	0	1	0	0
INTS9	55756	broad.mit.edu	37	8	28638404	28638404	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:28638404G>A	ENST00000416984.2	-	11	1502	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	INTS9_ENST00000521022.1_Silent_p.F402F|INTS9_ENST00000521070.1_5'UTR|INTS9_ENST00000397363.4_Silent_p.F296F|INTS9_ENST00000521777.1_Silent_p.F378F	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	402					snRNA processing	integrator complex	protein binding	p.F402F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CCACGTCCCCGAAGCGGAGGG	0.493000													22	33					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649673	20649673	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:20649673C>A	ENST00000428453.1	-	0	2526																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GAGGCCTATCCTGAGAAAGCC	0.587000													45	114					1.02687e-29	1.40381e-29	1	1	0
PCDHB13	56123	broad.mit.edu	37	5	140594619	140594619	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140594619C>T	ENST00000341948.4	+	1	1111	c.924C>T	c.(922-924)ctC>ctT	p.L308L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		308	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAAACAACTCGATTTCGAAA	0.378000													75	84					0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45810762	45810762	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:45810762G>A	ENST00000221476.3	-	7	1098	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	308	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GGATCTCCTCGAACTTGGGGT	0.647000													12	15					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90782924	90782924	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:90782924C>T	ENST00000354366.3	-	3	637	c.405G>A	c.(403-405)ccG>ccA	p.P135P	NRDE2_ENST00000357904.3_Intron	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CAACCTACTTCGGTTCCTCAG	0.428000													80	85					0	0	1	0	0
IFT81	28981	broad.mit.edu	37	12	110655852	110655852	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:110655852C>T	ENST00000242591.5	+	19	2358	c.1852C>T	c.(1852-1854)Ctt>Ttt	p.L618F	IFT81_ENST00000552912.1_Missense_Mutation_p.L618F	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	618					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						ATGATAGAAACTTCGGGAAAA	0.308000													6	34					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21605738	21605738	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:21605738G>A	ENST00000392288.2	+	4	386	c.277G>A	c.(277-279)Gac>Aac	p.D93N	ZNF493_ENST00000596302.1_3'UTR|ZNF493_ENST00000355504.4_5'UTR|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTTTGCTGAAGACTTTTGCCC	0.294000													33	34					0	0	1	0	0
P2RX6	9127	broad.mit.edu	37	22	21369616	21369616	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:21369616C>A	ENST00000413302.2	+	1	301	c.153C>A	c.(151-153)gtC>gtA	p.V51V	P2RX6_ENST00000591411.1_Intron|P2RX6_ENST00000443995.3_5'UTR|P2RX6_ENST00000401443.1_Intron|P2RX6_ENST00000402329.3_Intron|P2RX6_ENST00000336296.2_Silent_p.V41V			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	51					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										GGATCGTGGTCTATGTGGTAG	0.587000													17	266					5.61819e-17	6.93881e-17	1	1	0
ZSCAN20	7579	broad.mit.edu	37	1	33960964	33960964	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:33960964G>T	ENST00000361328.3	+	8	3173	c.3020G>T	c.(3019-3021)aGa>aTa	p.R1007I		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	1007					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ATTCACCAGAGAATCCACACA	0.493000													33	48					1.30988e-24	1.73684e-24	1	1	0
DPAGT1	1798	broad.mit.edu	37	11	118968736	118968736	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:118968736A>G	ENST00000409993.2	-	8	2297	c.746T>C	c.(745-747)tTt>tCt	p.F249S	DPAGT1_ENST00000354202.4_Missense_Mutation_p.F249S|DPAGT1_ENST00000432443.2_Missense_Mutation_p.F142S			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	249					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ATCTCCCACAAACACCCGTGA	0.537000													54	58					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58467368	58467368	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:58467368T>A	ENST00000357552.3	-	24	2266	c.2041A>T	c.(2041-2043)Aaa>Taa	p.K681*	SYCP2_ENST00000371001.2_Nonsense_Mutation_p.K681*			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	681					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTATCTATTTTGATATGGTCG	0.313000													42	55					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32954154	32954154	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:32954154A>C	ENST00000544455.1	+	24	9355	c.9128A>C	c.(9127-9129)gAa>gCa	p.E3043A	BRCA2_ENST00000380152.3_Missense_Mutation_p.E3043A	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3043					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTTTCAGATGAAATTTTATTT	0.353000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			23	19					0	0	1	0	0
FAM167A	83648	broad.mit.edu	37	8	11301723	11301723	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:11301723C>T	ENST00000284486.4	-	2	736	c.198G>A	c.(196-198)gaG>gaA	p.E66E	FAM167A_ENST00000528897.1_Silent_p.E66E|FAM167A_ENST00000534308.1_Silent_p.E66E	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	66										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						TCGCCTGTGGCTCCGCAGCCG	0.697000													38	41					0	0	1	0	0
LRRC34	151827	broad.mit.edu	37	3	169525424	169525424	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:169525424C>T	ENST00000522526.2	-	3	768	c.331G>A	c.(331-333)Gat>Aat	p.D111N	LRRC34_ENST00000316515.7_Missense_Mutation_p.D98N|LRRC34_ENST00000446859.1_Missense_Mutation_p.D111N|LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000522830.1_Missense_Mutation_p.D50N			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	98										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ATCCAAAAATCTTCACCTGTA	0.303000													24	20					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40328257	40328257	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:40328257G>A	ENST00000264661.3	-	5	976	c.644C>T	c.(643-645)tCt>tTt	p.S215F	KCNH4_ENST00000607371.1_Missense_Mutation_p.S215F	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GAGGCAGCGAGACCCCCCCAC	0.607000													80	84					0	0	1	0	0
ARMCX1	51309	broad.mit.edu	37	X	100808515	100808515	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:100808515T>C	ENST00000372829.3	+	4	973	c.602T>C	c.(601-603)aTt>aCt	p.I201T		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	201						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						ATTGATGATATTCTGAGTGCT	0.468000													116	10					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123202077	123202077	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:123202077C>A	ENST00000349780.4	-	24	3501	c.3322G>T	c.(3322-3324)Gag>Tag	p.E1108*	CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.E1067*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.E1108*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.E1076*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1108	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TATTCTGTCTCATTTGAGGTA	0.428000													39	44					4.14481e-20	5.3097e-20	1	1	0
AC096579.13	0	broad.mit.edu	37	2	89160236	89160236	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:89160236G>A	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA																							ACTGGCTAGCGCTTGGCTGTT	0.383000													11	11					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438227	120438227	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:120438227G>A	ENST00000369400.1	-	1	891	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	245	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATCCTCATACGAACATCTTGA	0.363000													40	35					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81102660	81102660	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:81102660G>A	ENST00000228641.3	+	3	872	c.650G>A	c.(649-651)cGa>cAa	p.R217Q		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	217					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AGTAGCCTTCGATGCCTTTCT	0.522000													64	52					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94640031	94640031	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:94640031G>A	ENST00000260526.6	-	23	3362	c.3180C>T	c.(3178-3180)gaC>gaT	p.D1060D		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1060					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TAGTAGCAGCGTCTTTTCTAT	0.373000													52	62					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891248	18891248	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:18891248C>T	ENST00000317658.3	+	1	204	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	16					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAGAGTAATTCGCAGACTGTT	0.438000													32	42					0	0	1	0	0
RRP1	8568	broad.mit.edu	37	21	45212582	45212582	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:45212582C>T	ENST00000497547.1	+	3	363	c.246C>T	c.(244-246)ctC>ctT	p.L82L		NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	82					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		TTTCCCAGCTCGTTCATGCTT	0.517000													62	73					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96025940	96025940	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:96025940G>A	ENST00000297954.4	+	14	3503	c.3503G>A	c.(3502-3504)cGa>cAa	p.R1168Q	WNK2_ENST00000427277.2_Missense_Mutation_p.R780Q|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.R780Q|WNK2_ENST00000395477.2_Missense_Mutation_p.R1168Q	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1168					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						AGGGCAGCCCGAAAACACCAC	0.657000													8	9					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48212569	48212569	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:48212569C>T	ENST00000394747.1	-	23	3636	c.3287G>A	c.(3286-3288)cGg>cAg	p.R1096Q	ABCC11_ENST00000353782.5_Missense_Mutation_p.R1096Q|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1096Q|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1096Q	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1096	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R1096Q(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CAAGCCAATCCGGGCAGTGGC	0.582000													39	47					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47406953	47406953	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:47406953G>A	ENST00000310638.4	-	1	184	c.153C>T	c.(151-153)ttC>ttT	p.F51F	CYP4A11_ENST00000371905.1_Silent_p.F51F|CYP4A11_ENST00000462347.1_Silent_p.F51F|CYP4A11_ENST00000371904.4_Silent_p.F51F|CYP4A11_ENST00000457840.2_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	51					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GAGGGCACGGGAACTGCTGGA	0.617000													44	46					0	0	1	0	0
NFKBIE	4794	broad.mit.edu	37	6	44229372	44229372	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:44229372T>G	ENST00000275015.5	-	3	1098	c.1099A>C	c.(1099-1101)Aac>Cac	p.N367H		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	367					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTTGCCAGTTTTGCAGCTGG	0.622000													20	26					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142012121	142012121	+	Missense_Mutation	SNP	C	C	T	rs145092192		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:142012121C>T	ENST00000389484.3	-	4	1404	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	145	EGF-like 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E145K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTGTTATTTCGAATCCATCC	0.343000										TSP Lung(27;0.18)			20	27					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43026111	43026111	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:43026111G>A	ENST00000161559.6	-	3	802	c.668C>T	c.(667-669)gCg>gTg	p.A223V	CEACAM1_ENST00000403444.3_Missense_Mutation_p.A223V|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A183V|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A223V|CEACAM1_ENST00000358394.3_Missense_Mutation_p.A223V|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A223V|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A223V	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	223	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ACTGCGGTTCGCACTCACTGG	0.552000													109	106					0	0	1	0	0
RRM1	6240	broad.mit.edu	37	11	4127440	4127440	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:4127440G>T	ENST00000300738.5	+	3	477	c.273G>T	c.(271-273)aaG>aaT	p.K91N	RRM1_ENST00000423050.2_Intron	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	91	ATP-cone.				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AAGAAACAAAGAAAGTGTTCA	0.403000													11	15					1.33987e-11	1.53899e-11	1	1	0
AXIN2	8313	broad.mit.edu	37	17	63554649	63554649	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:63554649T>G	ENST00000307078.5	-	2	403	c.90A>C	c.(88-90)gaA>gaC	p.E30D	AXIN2_ENST00000375702.5_Missense_Mutation_p.E30D|CTD-2535L24.2_ENST00000577662.1_3'UTR	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	30					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGGTCTCCCCTTCTTCCCCTG	0.652000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				35	33					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40309832	40309832	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:40309832C>A	ENST00000316891.5	-	10	1189	c.1175G>T	c.(1174-1176)aGa>aTa	p.R392I	TRIT1_ENST00000537440.1_Missense_Mutation_p.R88I|TRIT1_ENST00000541099.1_Missense_Mutation_p.R10I|TRIT1_ENST00000372818.1_Missense_Mutation_p.R366I|TRIT1_ENST00000537223.1_Missense_Mutation_p.R88I|TRIT1_ENST00000441669.2_Missense_Mutation_p.R310I|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000545233.1_Missense_Mutation_p.R146I	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	392					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTGATAACTTCTCTTGTTCTC	0.463000													34	38					6.53348e-20	8.36166e-20	1	1	0
TTYH2	94015	broad.mit.edu	37	17	72239552	72239552	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:72239552C>A	ENST00000269346.4	+	5	749	c.675C>A	c.(673-675)gtC>gtA	p.V225V	TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Silent_p.V204V	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	225						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGGACCTGGTCATCTGCCTCA	0.617000													51	62					3.31993e-32	4.57616e-32	1	1	0
NUP210L	91181	broad.mit.edu	37	1	154072516	154072516	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:154072516G>T	ENST00000368559.3	-	14	1994	c.1923C>A	c.(1921-1923)taC>taA	p.Y641*	NUP210L_ENST00000271854.3_Nonsense_Mutation_p.Y641*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	641						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGCTCTCCAAGTACTTGTCAC	0.403000													91	102					7.49063e-41	1.0543e-40	1	1	0
MCTP2	55784	broad.mit.edu	37	15	94882608	94882608	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:94882608G>A	ENST00000331706.4	+	0	792				MCTP2_ENST00000357742.4_Missense_Mutation_p.D243N|MCTP2_ENST00000451018.3_Missense_Mutation_p.D243N|MCTP2_ENST00000543482.1_Missense_Mutation_p.D243N			Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2						calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CCCAGTATGGGATGAGATAGT	0.358000													50	53					0	0	1	0	0
HBG1	3047	broad.mit.edu	37	11	5269669	5269669	+	Nonsense_Mutation	SNP	C	C	A	rs34647752		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:5269669C>A	ENST00000330597.3	-	3	451	c.364G>T	c.(364-366)Gaa>Taa	p.E122*		NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	122			E -> K (in Siena/Hull).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGTGAATTCTTTGCCGAAA	0.517000													21	29					5.61819e-17	6.93881e-17	1	1	0
TENM4	26011	broad.mit.edu	37	11	78413035	78413035	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:78413035G>T	ENST00000278550.7	-	28	5085	c.4623C>A	c.(4621-4623)tcC>tcA	p.S1541S		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		ACACAGCCAAGGAAGATGGGG	0.498000													28	36					7.41945e-09	8.19551e-09	1	1	0
HOXC10	3226	broad.mit.edu	37	12	54379056	54379056	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:54379056C>T	ENST00000303460.4	+	1	87	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C	HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	5					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						GACATGCCCTCGCAATGTAAC	0.572000													14	244					0	0	1	0	0
PRRC1	133619	broad.mit.edu	37	5	126883688	126883688	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:126883688C>T	ENST00000442138.2	+	8	1349	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	PRRC1_ENST00000512635.2_Intron|PRRC1_ENST00000513427.1_Intron|PRRC1_ENST00000296666.8_Intron			Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	0						Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		AAAATTTGTTCGGTTTTTTTG	0.299000													9	13					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38322039	38322039	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:38322039C>T	ENST00000215957.6	+	8	1580	c.1454C>T	c.(1453-1455)gCg>gTg	p.A485V		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	485	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding	p.A485G(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GCACCCAGCGCGTCCCCACTG	0.697000													31	23					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436071	158436071	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:158436071C>A	ENST00000289451.2	+	1	800	c.720C>A	c.(718-720)acC>acA	p.T240T		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CCTTCTCCACCTGTGCCTCCC	0.453000													39	41					3.62531e-18	4.54164e-18	1	1	0
EPHA6	285220	broad.mit.edu	37	3	97124071	97124071	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:97124071T>G	ENST00000389672.5	+	6	1722	c.1684T>G	c.(1684-1686)Ttt>Gtt	p.F562V		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	467						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGCACCTGCTTTTTCCAATGG	0.398000													7	14					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15938223	15938223	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:15938223T>G	ENST00000268712.3	-	45	7248	c.6991A>C	c.(6991-6993)Aac>Cac	p.N2331H	NCOR1_ENST00000395857.3_Missense_Mutation_p.N915H|NCOR1_ENST00000395851.1_Missense_Mutation_p.N2228H	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2331	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTCCTGCTGTTTGACTTGCTG	0.393000													24	38					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67047346	67047346	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:67047346G>T	ENST00000315962.4	+	3	836	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	TRIM55_ENST00000350034.4_Missense_Mutation_p.D155Y|TRIM55_ENST00000276573.7_Missense_Mutation_p.D155Y|TRIM55_ENST00000353317.5_Missense_Mutation_p.D155Y	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	155						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGCACACAAAGACTGCCAGGT	0.572000													57	59					1.19403e-26	1.60236e-26	1	1	0
CYP4F8	11283	broad.mit.edu	37	19	15730437	15730437	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:15730437C>T	ENST00000441682.2	+	0	461							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTTTGGCTGCCGTACTAGGG	0.562000													21	20					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52143610	52143610	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:52143610T>G	ENST00000596288.1	-	6	971	c.944A>C	c.(943-945)aAg>aCg	p.K315T	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.K224T|MCM3_ENST00000229854.7_Missense_Mutation_p.K270T	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	270	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CTGAGCATCCTTGCTCATCTG	0.433000													3	37					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100407406	100407406	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:100407406T>A	ENST00000375147.3	+	5	645	c.389T>A	c.(388-390)tTt>tAt	p.F130Y		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	130	MIF4G.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CAGGTCCGTTTTTTATCTGAT	0.353000													33	46					0	0	1	0	0
SPANXN4	441525	broad.mit.edu	37	X	142113830	142113830	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:142113830G>T	ENST00000370504.3	+	1	113	c.30G>T	c.(28-30)gaG>gaT	p.E10D	SPANXN4_ENST00000446864.1_Missense_Mutation_p.E10D			Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	10										endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					GCACCAACGAGAATAAAATGA	0.418000													12	1					0.00136819	0.00139942	1	1	0
STRA8	346673	broad.mit.edu	37	7	134943239	134943239	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:134943239T>G	ENST00000275764.3	+	9	988	c.988T>G	c.(988-990)Ttg>Gtg	p.L330V		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	330					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						CGATGAAGATTTGTAATGCAG	0.522000													7	5					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151082810	151082810	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:151082810A>C	ENST00000474524.1	+	20	2934	c.2896A>C	c.(2896-2898)Atg>Ctg	p.M966L	MED12L_ENST00000273432.4_Missense_Mutation_p.M826L|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	966					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAATAACGTGATGCCTGCAAA	0.363000													70	90					0	0	1	0	0
CTSC	1075	broad.mit.edu	37	11	88027383	88027383	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:88027383C>A	ENST00000227266.5	-	7	1297	c.1183G>T	c.(1183-1185)Gac>Tac	p.D395Y		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	395					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGAAAGGGTCTCTTAGACCA	0.473000													44	45					6.48837e-15	7.78283e-15	1	1	0
CHD1	1105	broad.mit.edu	37	5	98209360	98209360	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:98209360C>A	ENST00000284049.3	-	25	3657	c.3508G>T	c.(3508-3510)Gaa>Taa	p.E1170*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1170					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGTACCAATTCTCCCAGTCGT	0.343000													27	34					2.44723e-14	2.91644e-14	1	1	0
CYP2B6	1555	broad.mit.edu	37	19	41518700	41518700	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:41518700C>A	ENST00000324071.4	+	8	1281	c.1274C>A	c.(1273-1275)gCt>gAt	p.A425D	CYP2B6_ENST00000330446.5_Missense_Mutation_p.A225D|CYP2B6_ENST00000593831.1_Missense_Mutation_p.A189D	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	425					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	AAGACTGAAGCTTTTATCCCC	0.478000													120	133					7.48799e-53	1.06917e-52	1	1	0
SUPT5H	6829	broad.mit.edu	37	19	39963524	39963524	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:39963524G>A	ENST00000599117.1	+	23	2477	c.2110G>A	c.(2110-2112)Gaa>Aaa	p.E704K	SUPT5H_ENST00000359191.6_Missense_Mutation_p.E700K|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E704K|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E700K|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E704K			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	704	KOW 5.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGGGACAACGAACTCATCGG	0.672000													24	34					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104098377	104098377	+	Silent	SNP	C	C	T	rs142098710		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:104098377C>T	ENST00000388887.2	+	36	4089	c.3885C>T	c.(3883-3885)ttC>ttT	p.F1295F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1295					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						CCTGCCCATTCGGAACTAAAT	0.368000													14	14					0	0	1	0	0
PRSS42	339906	broad.mit.edu	37	3	46874577	46874577	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:46874577C>T	ENST00000447340.1	-	2	232	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	PRSS42_ENST00000429665.1_Missense_Mutation_p.R164Q			Q7Z5A4	PRS42_HUMAN	protease, serine, 42	164					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						AAGGTCATTTCGAATGGTTGT	0.458000													32	40					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45497527	45497527	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:45497527C>T	ENST00000361462.2	+	10	3836	c.3653C>T	c.(3652-3654)tCt>tTt	p.S1218F	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.S1218F			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1218							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAAATGGCATCTGAAAGTAAG	0.318000													68	109					0	0	1	0	0
XRCC6BP1	91419	broad.mit.edu	37	12	58350560	58350560	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:58350560G>A	ENST00000300145.3	+	6	753	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	XRCC6BP1_ENST00000546709.1_3'UTR	NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	210					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						TGAAGTTTTTGAATCTTGTTT	0.388000													38	30					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45514825	45514825	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:45514825C>T	ENST00000371438.1	+	8	1707	c.1349C>T	c.(1348-1350)tCg>tTg	p.S450L	RUNX2_ENST00000359524.5_Missense_Mutation_p.S436L|RUNX2_ENST00000541979.1_Missense_Mutation_p.S496L|RUNX2_ENST00000465038.2_Missense_Mutation_p.S450L|RUNX2_ENST00000371436.6_Missense_Mutation_p.S428L|RUNX2_ENST00000371432.3_Missense_Mutation_p.S414L|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000352853.5_Missense_Mutation_p.S518L	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	450	Interaction with MYST4.|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TATGGCACTTCGTCAGGATCC	0.577000													4	62					0	0	1	0	0
FER	2241	broad.mit.edu	37	5	108171429	108171429	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:108171429G>T	ENST00000281092.4	+	5	786	c.402G>T	c.(400-402)gaG>gaT	p.E134D	FER_ENST00000536402.1_Missense_Mutation_p.E134D|FER_ENST00000438717.2_Intron|FER_ENST00000502752.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	134	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CAGAATTGGAGAAGTTAAAAT	0.249000													19	22					2.39187e-15	2.88725e-15	1	1	0
RABEPK	10244	broad.mit.edu	37	9	127996233	127996233	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:127996233G>A	ENST00000373538.3	+	8	1403	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Missense_Mutation_p.D314N|RABEPK_ENST00000394125.4_Missense_Mutation_p.D365N	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	365					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						AATCTATGACGATTGTATTGT	0.393000													86	102					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77941946	77941946	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:77941946C>T	ENST00000393684.3	-	8	1835	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	ISM2_ENST00000429906.1_Missense_Mutation_p.E489K|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000342219.4_Missense_Mutation_p.E570K|ISM2_ENST00000412904.1_Missense_Mutation_p.E489K			Q6H9L7	ISM2_HUMAN	isthmin 2	570	AMOP.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CACTAGTACTCCTTGGCCTCC	0.642000													49	72					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55138591	55138591	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:55138591A>C	ENST00000257290.5	+	9	1599	c.1268A>C	c.(1267-1269)gAt>gCt	p.D423A	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	423	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTGGTCGATGATCACCATGGC	0.468000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			32	41					0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51644766	51644766	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:51644766C>T	ENST00000375695.2	+	13	2398	c.2245C>T	c.(2245-2247)Cgc>Tgc	p.R749C	MAGED1_ENST00000375722.1_Missense_Mutation_p.R693C|MAGED1_ENST00000326587.7_Missense_Mutation_p.R693C|MAGED1_ENST00000375772.3_Missense_Mutation_p.R693C|MAGED1_ENST00000494718.1_3'UTR	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	693					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AGCAAGAACCCGCATGGGAAT	0.572000										Multiple Myeloma(10;0.10)			19	3					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7668874	7668874	+	Missense_Mutation	SNP	G	G	A	rs150130856		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:7668874G>A	ENST00000572933.1	+	21	4962	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E1168K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1168	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGAAGATTTCGAATTCAAAGG	0.483000													37	55					0	0	1	0	0
MICU3	286097	broad.mit.edu	37	8	16963044	16963044	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:16963044A>T	ENST00000318063.5	+	11	1250	c.1208A>T	c.(1207-1209)aAt>aTt	p.N403I	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		AATGTGGAAAATACATCAGTA	0.313000													3	11					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61189977	61189977	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:61189977C>A	ENST00000216513.4	-	1	875	c.816G>T	c.(814-816)aaG>aaT	p.K272N		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	272						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GCCGGCGGTTCTTGAACCAGT	0.642000													9	9					0.000442599	0.00045576	1	1	0
DHRS9	10170	broad.mit.edu	37	2	169939919	169939919	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:169939919G>T	ENST00000327239.4	+	6	1898	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	DHRS9_ENST00000432060.2_Nonsense_Mutation_p.E192*|DHRS9_ENST00000428522.1_Nonsense_Mutation_p.E132*|DHRS9_ENST00000436483.2_Nonsense_Mutation_p.E132*|DHRS9_ENST00000602501.1_Nonsense_Mutation_p.E132*|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000357546.2_Nonsense_Mutation_p.E132*|DHRS9_ENST00000412271.1_Nonsense_Mutation_p.E132*	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	132					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GGACTACAGAGAACCTATTGA	0.473000													52	62					1.21353e-23	1.59836e-23	1	1	0
SV2C	22987	broad.mit.edu	37	5	75505591	75505591	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:75505591G>A	ENST00000502798.2	+	4	1234	c.792G>A	c.(790-792)tcG>tcA	p.S264S	SV2C_ENST00000322285.7_Silent_p.S264S	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	264					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)		CTGTGTTCTCGTACTTTGCTG	0.552000													37	57					0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118938638	118938638	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:118938638C>A	ENST00000300793.6	+	1	146	c.104C>A	c.(103-105)tCt>tAt	p.S35Y	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	35					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ACACCTGCTTCTGGATCCGCT	0.612000													11	13					3.07112e-06	3.27107e-06	1	1	0
PEX11A	8800	broad.mit.edu	37	15	90226805	90226805	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:90226805G>T	ENST00000300056.3	-	3	696	c.547C>A	c.(547-549)Ctt>Att	p.L183I	PEX11A_ENST00000561257.1_Missense_Mutation_p.L152I|PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000557982.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	183					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CGGAATAAAAGAAGTAGAAAG	0.473000													155	159					1.55176e-64	2.2282e-64	1	1	0
DICER1	23405	broad.mit.edu	37	14	95560464	95560464	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:95560464C>T	ENST00000526495.1	-	26	5416	c.5125G>A	c.(5125-5127)Gat>Aat	p.D1709N	DICER1_ENST00000541352.1_Missense_Mutation_p.D1709N|DICER1_ENST00000556045.1_Missense_Mutation_p.D607N|DICER1_ENST00000393063.1_Missense_Mutation_p.D1709N|DICER1_ENST00000343455.3_Missense_Mutation_p.D1709N|DICER1_ENST00000527414.1_Missense_Mutation_p.D1709N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1709	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.D1709N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAAATCGCATCTCCCAGGAAT	0.527000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				37	44					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203847098	203847098	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:203847098C>A	ENST00000402905.3	+	15	2314	c.1993C>A	c.(1993-1995)Cat>Aat	p.H665N	CARF_ENST00000320443.8_Missense_Mutation_p.H665N|CARF_ENST00000545253.1_Missense_Mutation_p.H577N|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545262.1_Missense_Mutation_p.H589N|CARF_ENST00000414439.1_Missense_Mutation_p.H563N|CARF_ENST00000428585.1_Missense_Mutation_p.H589N|CARF_ENST00000438828.2_Missense_Mutation_p.H665N	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1			calcium responsive transcription factor																		AGGAACTGTTCATCGGATTCT	0.403000													38	5					5.59293e-11	6.38422e-11	1	1	0
PIK3R1	5295	broad.mit.edu	37	5	67586647	67586647	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:67586647G>T	ENST00000336483.5	+	1	183	c.91G>T	c.(91-93)Gaa>Taa	p.E31*	PIK3R1_ENST00000320694.8_Intron|PIK3R1_ENST00000521657.1_Intron|PIK3R1_ENST00000396611.1_Intron|PIK3R1_ENST00000274335.5_Intron|PIK3R1_ENST00000521381.1_Intron	NM_181504.3	NP_852556.2	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	81	SH3.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.E31Q(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GTTTTATATAGAAATGGACCC	0.338000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			12	22					6.40141e-05	6.67685e-05	1	1	0
BMP10	27302	broad.mit.edu	37	2	69098362	69098362	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:69098362G>T	ENST00000295379.1	-	1	287	c.129C>A	c.(127-129)ttC>ttA	p.F43L		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	43					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTTGCTCTGAGAAAACATCAC	0.483000													54	74					2.12129e-23	2.79053e-23	1	1	0
ZFP69	339559	broad.mit.edu	37	1	40961442	40961442	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:40961442G>T	ENST00000372706.1	+	6	2298	c.1292G>T	c.(1291-1293)aGa>aTa	p.R431I	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.R431I					ZFP69 zinc finger protein																		CATCACCAGAGAATCCATACT	0.418000													28	35					2.24059e-21	2.89886e-21	1	1	0
LRP1	4035	broad.mit.edu	37	12	57574149	57574149	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:57574149G>T	ENST00000243077.3	+	32	5739	c.5273G>T	c.(5272-5274)tGg>tTg	p.W1758L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1758					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AAACTCTACTGGATCAGCTCC	0.622000													128	169					2.23197e-56	3.19374e-56	1	1	0
ANXA1	301	broad.mit.edu	37	9	75784023	75784023	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:75784023G>A	ENST00000376911.1	+	11	1819	c.937G>A	c.(937-939)Gca>Aca	p.A313T	ANXA1_ENST00000257497.6_Missense_Mutation_p.A313T|ANXA1_ENST00000491192.1_3'UTR			P04083	ANXA1_HUMAN	annexin A1	313					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGATATCAAAGCATTCTATCA	0.398000													68	81					0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73930721	73930721	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:73930721G>A	ENST00000302351.4	-	2	2720	c.1590C>T	c.(1588-1590)agC>agT	p.S530S	ENC1_ENST00000537006.1_Silent_p.S530S|ENC1_ENST00000510316.1_Silent_p.S457S	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	530				YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532).	nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	p.S530S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CAGCATGGCAGCTCATGCGCT	0.493000													40	38					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37708411	37708411	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:37708411G>A	ENST00000539465.1	+	4	868	c.275G>A	c.(274-276)gGc>gAc	p.G92D	FRMPD1_ENST00000377765.3_Missense_Mutation_p.G92D|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	92	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TCTGCTCACGGCAAGCTTTTC	0.493000													32	36					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113994231	113994231	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:113994231T>A	ENST00000429538.3	-	8	1039	c.845A>T	c.(844-846)aAc>aTc	p.N282I	AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000263334.5_Missense_Mutation_p.N282I|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.N282I|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000556070.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	282					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 collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|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	protein binding|RNA polymerase II core promoter sequence-specific DNA 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						CAGTGGCGTGTTGGAAGGGGT	0.662000			T	PPARG	follicular thyroid		Thyroid dysgenesis						4	4					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62217669	62217669	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:62217669C>A	ENST00000261517.5	-	53	6668	c.6595G>T	c.(6595-6597)Gaa>Taa	p.E2199*	VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E2199*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E2156*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E2156*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2199					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATTATAAATTCTTTAACCATA	0.289000													8	8					1.06961e-07	1.1658e-07	1	1	0
TRBV6-7	28600	broad.mit.edu	37	7	142144050	142144050	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:142144050G>T	ENST00000390373.2	-	0	34																											CCACAGGAGAGAAAAGGCCAC	0.607000													43	104					6.21074e-16	7.57245e-16	1	1	0
SNRNP200	23020	broad.mit.edu	37	2	96953685	96953685	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:96953685G>A	ENST00000323853.5	-	25	3358	c.3281C>T	c.(3280-3282)gCg>gTg	p.A1094V	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1094	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TTCAAATATCGCTCGCATCAA	0.512000													29	41					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118610330	118610330	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:118610330T>G	ENST00000392533.3	-	17	2321	c.1831A>C	c.(1831-1833)Aat>Cat	p.N611H	TAOK3_ENST00000537952.1_Missense_Mutation_p.N151H|TAOK3_ENST00000419821.2_Missense_Mutation_p.N611H	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	611					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAACGACAATTTTTGTCGTAG	0.453000													78	101					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74117797	74117797	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:74117797C>T	ENST00000370336.4	+	9	1310	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	384	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGAGTAACTTCGTCAATCTGA	0.408000													26	29					0	0	1	0	0
FBXL3	26224	broad.mit.edu	37	13	77581816	77581816	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:77581816G>A	ENST00000355619.5	-	5	1075	c.751C>T	c.(751-753)Cga>Tga	p.R251*	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	251					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TGTTCTAATCGAACATGTTTT	0.418000													40	3					0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12297614	12297614	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:12297614A>G	ENST00000343979.4	+	4	561	c.421A>G	c.(421-423)Aca>Gca	p.T141A	ZNF136_ENST00000398616.2_Missense_Mutation_p.T75A	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	141					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						GAAGCCAGATACACGTAACCA	0.428000													24	36					0	0	1	0	0
METTL6	131965	broad.mit.edu	37	3	15452882	15452882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:15452882G>A	ENST00000443029.1	-	6	976	c.736C>T	c.(736-738)Cga>Tga	p.R246*	METTL6_ENST00000450816.2_Nonsense_Mutation_p.R201*|METTL6_ENST00000383790.3_Nonsense_Mutation_p.R246*			Q8TCB7	METL6_HUMAN	methyltransferase like 6	246							methyltransferase activity	p.R246*(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						ACCGTCTCTCGAAACACATAC	0.443000													26	33					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40556794	40556794	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:40556794G>A	ENST00000357037.5	-	2	1503	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	362					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CTCCCGCGCCGCAGGTCGCCG	0.746000													8	6					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79277857	79277857	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:79277857C>T	ENST00000373294.5	+	1	117	c.89C>T	c.(88-90)gCg>gTg	p.A30V	TBX22_ENST00000373296.3_Missense_Mutation_p.A30V|TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000476373.1_3'UTR	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	30					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCAATACAGGCGGAGCAGCCT	0.612000													18	3					0	0	1	0	0
ERLEC1	27248	broad.mit.edu	37	2	54036356	54036356	+	Silent	SNP	C	C	T	rs149092437		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:54036356C>T	ENST00000185150.4	+	10	1178	c.1047C>T	c.(1045-1047)gtC>gtT	p.V349V	ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000378239.5_Silent_p.V295V|ERLEC1_ENST00000405123.3_Silent_p.V349V|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	349	PRKCSH 2.				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	p.V349V(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TTTAGGGTGTCGGTTGGTGGA	0.313000													19	30					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35091479	35091479	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:35091479C>T	ENST00000378617.3	-	7	2799	c.2405G>A	c.(2404-2406)cGa>cAa	p.R802Q	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.R802Q	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	802					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGCATGTGTCGGTAGATTTG	0.582000													32	49					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52902154	52902154	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:52902154G>A	ENST00000261844.7	-	6	1109	c.957C>T	c.(955-957)ggC>ggT	p.G319G	FAM214A_ENST00000546305.2_Silent_p.G326G	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	319																	TACCACTAAAGCCTAGAATAT	0.383000													13	18					0	0	1	0	0
KISS1	3814	broad.mit.edu	37	1	204159861	204159861	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:204159861C>T	ENST00000367194.4	-	3	316	c.168G>A	c.(166-168)agG>agA	p.R56R		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	56					cytoskeleton organization	extracellular region	protein binding			large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		CAGCTGGCTTCCTCTCGGTGC	0.726000													13	10					0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71482693	71482693	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:71482693C>A	ENST00000393539.2	-	6	2048	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	ZNF23_ENST00000564528.1_Missense_Mutation_p.R354I|ZNF23_ENST00000417828.1_Missense_Mutation_p.R412I|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.R412I|ZNF23_ENST00000428724.2_Missense_Mutation_p.R354I|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000358700.2_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R412I(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TGTGTGAATTCTCTGGTGTTG	0.458000													28	15					1.77063e-15	2.14316e-15	1	1	0
ATP10A	57194	broad.mit.edu	37	15	25961963	25961963	+	Missense_Mutation	SNP	C	C	T	rs17854738		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:25961963C>T	ENST00000356865.6	-	9	1801	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	564					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCAGACAGCTCAGGCGAGAGG	0.577000													45	81					0	0	1	0	0
RPL34	6164	broad.mit.edu	37	4	109543281	109543281	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:109543281G>T	ENST00000394668.2	+	3	152	c.86G>T	c.(85-87)aGa>aTa	p.R29I	RPL34_ENST00000506397.1_Missense_Mutation_p.R29I|RPL34_ENST00000502534.1_Missense_Mutation_p.R29I|RPL34_ENST00000394665.1_Missense_Mutation_p.R29I|RPL34_ENST00000394667.3_Missense_Mutation_p.R29I	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	29					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		CCTGGTAATAGAATTGTTTAC	0.398000													25	28					3.01185e-09	3.34629e-09	1	1	0
CFI	3426	broad.mit.edu	37	4	110662224	110662224	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:110662224C>T	ENST00000394634.2	-	13	1784	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	CFI_ENST00000394635.3_Missense_Mutation_p.G534E|CFI_ENST00000512148.1_Missense_Mutation_p.G519E	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	526	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TAAGGGGCCTCCAGAGTCCCC	0.453000													128	158					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82877031	82877031	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:82877031G>A	ENST00000298281.4	+	5	1544	c.1092G>A	c.(1090-1092)tcG>tcA	p.S364S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	364	Lys-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATTCTAAATCGAAATCGAAAT	0.313000													13	21					0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94394800	94394800	+	Missense_Mutation	SNP	C	C	T	rs142299390	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:94394800C>T	ENST00000267594.5	+	3	662	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	FAM181A_ENST00000557719.1_Missense_Mutation_p.R57W|FAM181A_ENST00000556222.1_Missense_Mutation_p.R57W|FAM181A_ENST00000557000.2_Missense_Mutation_p.R57W	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	119										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CCGGCTCCCGCGGGGCCTTCC	0.652000													16	19					0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3144427	3144427	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:3144427G>T	ENST00000446632.2	-	4	734	c.160C>A	c.(160-162)Cct>Act	p.P54T	IL5RA_ENST00000311981.8_Missense_Mutation_p.P54T|IL5RA_ENST00000438560.1_Missense_Mutation_p.P54T|IL5RA_ENST00000445864.2_Missense_Mutation_p.P54T|IL5RA_ENST00000256452.3_Missense_Mutation_p.P54T|IL5RA_ENST00000430514.2_Missense_Mutation_p.P54T|IL5RA_ENST00000383846.1_Missense_Mutation_p.P54T|IL5RA_ENST00000456302.1_Missense_Mutation_p.P54T|IL5RA_ENST00000418488.2_Missense_Mutation_p.P54T	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	54					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TCTTGATCAGGATTTGGTTTC	0.333000													16	20					3.45872e-05	3.62598e-05	1	1	0
PRKCQ	5588	broad.mit.edu	37	10	6472834	6472834	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:6472834G>A	ENST00000263125.5	-	17	2002	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	PRKCQ_ENST00000397176.2_Missense_Mutation_p.R572W|PRKCQ_ENST00000539722.1_Missense_Mutation_p.R510W	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	635	AGC-kinase C-terminal.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.R635W(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TTGATCTCCCGAAACAAAGGG	0.592000													33	34					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20966178	20966178	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:20966178G>T	ENST00000261383.3	-	55	11027	c.11028C>A	c.(11026-11028)ttC>ttA	p.F3676L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3676	AAA 6 (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)		CGGCGTGGAAGAAACAAAGGC	0.493000													71	69					1.55545e-33	2.15628e-33	1	1	0
TTN	7273	broad.mit.edu	37	2	179593771	179593771	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179593771G>T	ENST00000589042.1	-	65	19218	c.18994C>A	c.(18994-18996)Ctt>Att	p.L6332I	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L5088I|TTN_ENST00000591111.1_Missense_Mutation_p.L6015I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6015	Ig-like 44.						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)			TCTTCATCAAGAATCTGATCA	0.403000													9	14					1.12685e-05	1.18835e-05	1	1	0
TENM2	57451	broad.mit.edu	37	5	167553931	167553931	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:167553931A>G	ENST00000519204.1	+	11	2137	c.2019A>G	c.(2017-2019)gaA>gaG	p.E673E	TENM2_ENST00000518659.1_Silent_p.E794E|TENM2_ENST00000545108.1_Silent_p.E794E|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Silent_p.E562E|TENM2_ENST00000403607.2_Silent_p.E627E					teneurin transmembrane protein 2																		GGAATGGTGAACACTGCACCA	0.527000													9	18					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534510	92534510	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:92534510A>C	ENST00000298047.6	+	9	8348	c.8331A>C	c.(8329-8331)ccA>ccC	p.P2777P	FAT3_ENST00000525166.1_Silent_p.P2627P|FAT3_ENST00000409404.2_Silent_p.P2777P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2777	Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAACCAGCCCAGCTTTCCACT	0.433000										TCGA Ovarian(4;0.039)			24	24					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54304557	54304557	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:54304557T>C	ENST00000324134.6	-	7	2848	c.2680A>G	c.(2680-2682)Aat>Gat	p.N894D	NLRP12_ENST00000391773.1_Missense_Mutation_p.N895D|NLRP12_ENST00000535162.1_Missense_Mutation_p.N894D|NLRP12_ENST00000391775.3_Missense_Mutation_p.N894D|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000345770.5_Missense_Mutation_p.N895D|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	894					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCAGCTCATTCAGGCTCAGG	0.627000													27	25					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012822	73012822	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:73012822G>T	ENST00000308744.6	+	4	960	c.862G>T	c.(862-864)Gaa>Taa	p.E288*	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Nonsense_Mutation_p.E186*|NPFFR2_ENST00000395999.1_Nonsense_Mutation_p.E189*|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	288					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ACATGTGCAAGAAGAAAAATA	0.428000													88	93					3.1376e-36	4.37346e-36	1	1	0
JRKL	8690	broad.mit.edu	37	11	96125218	96125218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:96125218G>T	ENST00000458427.1	+	1	2061	c.1405G>T	c.(1405-1407)Gaa>Taa	p.E469*	JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Nonsense_Mutation_p.E469*	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	469					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.E469*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GGAGGAAATAGAACTAATTCC	0.403000													21	30					6.33239e-15	7.60086e-15	1	1	0
OR4C16	219428	broad.mit.edu	37	11	55340522	55340522	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:55340522G>T	ENST00000314634.3	+	1	919	c.919G>T	c.(919-921)Gat>Tat	p.D307Y		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATTGATCACAGATGACAAAAG	0.328000													7	14					0.00198382	0.00202405	1	1	0
CEP85	64793	broad.mit.edu	37	1	26586194	26586194	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:26586194G>T	ENST00000252992.4	+	7	1373	c.1242G>T	c.(1240-1242)aaG>aaT	p.K414N	CEP85_ENST00000451429.2_Missense_Mutation_p.K363N	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	414						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						ACCTTGAAAAGAAACTCTCTG	0.448000													54	75					1.46357e-32	2.01946e-32	1	1	0
IQSEC1	9922	broad.mit.edu	37	3	12950869	12950869	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:12950869A>C	ENST00000273221.4	-	11	2740	c.2524T>G	c.(2524-2526)Ttc>Gtc	p.F842V		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	842	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGGCGTTGAAGTTTATTAAC	0.547000													57	57					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101900373	101900373	+	Splice_Site	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:101900373T>G	ENST00000374994.4	+	4	922		c.e4+2		TGFBR1_ENST00000374990.2_Splice_Site|TGFBR1_ENST00000550253.1_Splice_Site|TGFBR1_ENST00000552516.1_Splice_Site	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1						activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACAATAAAGGTCTGTAACATT	0.358000													24	21					0	0	1	0	0
TMX4	56255	broad.mit.edu	37	20	7980417	7980417	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:7980417G>A	ENST00000246024.2	-	4	644	c.429C>T	c.(427-429)gtC>gtT	p.V143V	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	143					cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TCAGAGGCTCGACTGATTGCC	0.408000													24	25					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101390034	101390034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:101390034G>A	ENST00000312938.4	-	3	1298	c.718C>T	c.(718-720)Cga>Tga	p.R240*	ZBTB11_ENST00000461821.1_3'UTR	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	240	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AAAAGATCTCGAAAATACTCG	0.368000													35	50					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164773001	164773001	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:164773001T>G	ENST00000264382.3	-	13	1555	c.1493A>C	c.(1492-1494)cAa>cCa	p.Q498P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	498	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCATCATATTGCACTTCTTG	0.343000										HNSCC(35;0.089)			33	38					0	0	1	0	0
USE1	55850	broad.mit.edu	37	19	17330599	17330599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:17330599C>T	ENST00000445667.2	+	8	817	c.757C>T	c.(757-759)Cga>Tga	p.R253*	USE1_ENST00000263897.5_Nonsense_Mutation_p.R253*|USE1_ENST00000379776.4_3'UTR|USE1_ENST00000596136.1_3'UTR			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	253					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						CCTCTTCATTCGAATCATGCC	0.527000													70	81					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117307860	117307860	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:117307860G>A	ENST00000321322.6	-	26	4879	c.4878C>T	c.(4876-4878)ttC>ttT	p.F1626F	DSCAML1_ENST00000527706.1_Silent_p.F1356F	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1566					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.F1626F(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCAGGGTGGCGAACTGGGCTG	0.617000													45	51					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	599131	599131	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:599131T>C	ENST00000230449.4	-	8	972	c.837A>G	c.(835-837)cgA>cgG	p.R279R	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	279					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GAAACTTAAATCGCTGAAGCA	0.338000													89	107					0	0	1	0	0
ATG4C	84938	broad.mit.edu	37	1	63282329	63282329	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:63282329G>T	ENST00000317868.4	+	4	451	c.244G>T	c.(244-246)Gat>Tat	p.D82Y	ATG4C_ENST00000371120.3_Missense_Mutation_p.D82Y	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	82					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						ATTTCGTAAAGATTTCATTTC	0.398000													26	24					7.26314e-15	8.70043e-15	1	1	0
DHRSX	207063	broad.mit.edu	37	X	2343324	2343324	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:2343324C>T	ENST00000334651.5	-	2	183	c.131G>A	c.(130-132)cGt>cAt	p.R44H		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	44							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TATAGCGACACGGTCAGGTCG	0.438000													42	56					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25324208	25324208	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:25324208C>T	ENST00000549804.2	+	0	1377				SNORD116-13_ENST00000384408.1_RNA																							TGTGCATGGACCAATGATGAC	0.453000													51	74					0	0	1	0	0
CCM2L	140706	broad.mit.edu	37	20	30616851	30616851	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:30616851C>T	ENST00000300415.8	+	8	1200	c.1187C>T	c.(1186-1188)tCt>tTt	p.S396F	RP1-310O13.7_ENST00000449519.1_RNA|CCM2L_ENST00000262659.8_Missense_Mutation_p.L375F					cerebral cavernous malformation 2-like																		TCCACACCTTCTTTCCATGGC	0.602000													81	101					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60130028	60130028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:60130028C>A	ENST00000397786.2	-	3	416	c.340G>T	c.(340-342)Gaa>Taa	p.E114*		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	114					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTACGGCATTCATAGGAAAGT	0.358000													47	63					2.43468e-25	3.2428e-25	1	1	0
OR2M7	391196	broad.mit.edu	37	1	248487540	248487540	+	Missense_Mutation	SNP	C	C	T	rs138244705		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:248487540C>T	ENST00000317965.2	-	1	359	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAAAGCATTCGGAGCCAAGC	0.438000													142	173					0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120107324	120107324	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:120107324A>G	ENST00000307128.5	+	6	977	c.764A>G	c.(763-765)gAt>gGt	p.D255G		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	255							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CCTACAGATGATACCACTGTA	0.378000													22	31					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220170573	220170573	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:220170573G>A	ENST00000366923.3	-	18	2562	c.2293C>T	c.(2293-2295)Cgt>Tgt	p.R765C		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	765	3 X 57 AA approximate repeats.|WHEP-TRS 1.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTTAATTCACGAACCACATCT	0.388000													36	48					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32845803	32845803	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:32845803C>T	ENST00000311921.4	+	2	2259	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	ZNF507_ENST00000355898.5_Silent_p.I689I|ZNF507_ENST00000544431.1_Silent_p.I689I	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GTCACATGATCCACCACTGTA	0.458000													29	29					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	69366618	69366618	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:69366618C>A	ENST00000433211.2	-	3	463	c.289G>T	c.(289-291)Gaa>Taa	p.E97*	CTNNA3_ENST00000545309.1_Nonsense_Mutation_p.E97*|CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.E97*	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TACTCACTTTCTTTGCGAACT	0.423000													37	48					1.31962e-36	1.84083e-36	1	1	0
FKBP5	2289	broad.mit.edu	37	6	35558968	35558968	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:35558968T>G	ENST00000536438.1	-	8	1010	c.695A>C	c.(694-696)aAa>aCa	p.K232T	FKBP5_ENST00000540787.1_Missense_Mutation_p.K53T|FKBP5_ENST00000539068.1_Missense_Mutation_p.K232T|FKBP5_ENST00000542713.1_Intron|FKBP5_ENST00000357266.4_Missense_Mutation_p.K232T	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	232	PPIase FKBP-type 2.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AATGCCAAATTTAGGCTTCCC	0.348000													38	38					0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155487105	155487105	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:155487105G>T	ENST00000302068.4	+	2	323	c.260G>T	c.(259-261)aGa>aTa	p.R87I	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	87			Missing (in New York-1).		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)	AAAGTAGAAAGAAAAGCCCCT	0.582000													14	24					2.48551e-13	2.91259e-13	1	1	0
BRDT	676	broad.mit.edu	37	1	92456776	92456776	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:92456776G>T	ENST00000370389.2	+	13	2743	c.1819G>T	c.(1819-1821)Gat>Tat	p.D607Y	BRDT_ENST00000399546.2_Missense_Mutation_p.D680Y|BRDT_ENST00000362005.3_Missense_Mutation_p.D680Y|BRDT_ENST00000402388.1_Missense_Mutation_p.D680Y|BRDT_ENST00000394530.3_Missense_Mutation_p.D634Y	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	680					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAAACCAAATGATTCTCCTTC	0.244000													9	9					0.00136819	0.00139942	1	1	0
TAF4	6874	broad.mit.edu	37	20	60575195	60575195	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:60575195C>A	ENST00000252996.4	-	11	2771	c.2772G>T	c.(2770-2772)aaG>aaT	p.K924N		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AAGAAAAGTTCTTCTGCTGAG	0.473000													25	29					3.28513e-13	3.84286e-13	1	1	0
RHCE	6006	broad.mit.edu	37	1	25747246	25747246	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:25747246C>T	ENST00000294413.7	-	1	90	c.32G>A	c.(31-33)cGc>cAc	p.R11H	RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000413854.1_Missense_Mutation_p.R11H|RHCE_ENST00000349438.4_Missense_Mutation_p.R11H|RHCE_ENST00000243186.6_Missense_Mutation_p.R11H|RHCE_ENST00000346452.4_Missense_Mutation_p.R11H|RHCE_ENST00000340849.4_Missense_Mutation_p.R11H|RHCE_ENST00000455194.1_Missense_Mutation_p.R11H|RHCE_ENST00000425135.1_Missense_Mutation_p.R11H|RHCE_ENST00000349320.3_Intron	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	11						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCAGGCAGCGCCGGACAGA	0.557000													33	10					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192288604	192288604	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:192288604T>G	ENST00000392318.3	+	31	3576	c.3329T>G	c.(3328-3330)tTt>tGt	p.F1110C	MYO1B_ENST00000339514.4_Missense_Mutation_p.F1052C|MYO1B_ENST00000439065.2_Missense_Mutation_p.F355C|MYO1B_ENST00000392316.1_Missense_Mutation_p.F1081C|MYO1B_ENST00000304164.4_Missense_Mutation_p.F1110C	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1110						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGTGTGAAGTTTATTCAGGGA	0.393000													272	73					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14812838	14812838	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:14812838G>T	ENST00000380881.4	-	17	3683	c.2868C>A	c.(2866-2868)atC>atA	p.I956I	FREM1_ENST00000422223.2_Silent_p.I955I|FREM1_ENST00000380880.3_Silent_p.I955I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	955					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CGGCCTCTGAGATAACATCTC	0.507000													94	103					3.71036e-49	5.28085e-49	1	1	0
HVCN1	84329	broad.mit.edu	37	12	111089216	111089216	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:111089216A>C	ENST00000356742.5	-	5	1202	c.449T>G	c.(448-450)tTt>tGt	p.F150C	HVCN1_ENST00000242607.8_Missense_Mutation_p.F150C|HVCN1_ENST00000439744.2_Missense_Mutation_p.F130C|HVCN1_ENST00000548312.1_Missense_Mutation_p.F150C			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	150					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CTCCATCATAAAAAAGACCAA	0.483000													46	42					0	0	1	0	0
IFLTD1	160492	broad.mit.edu	37	12	25656717	25656717	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:25656717T>C	ENST00000539744.1	-	9	1332	c.853A>G	c.(853-855)Aca>Gca	p.T285A	IFLTD1_ENST00000413632.2_Missense_Mutation_p.T363A|IFLTD1_ENST00000282881.6_Missense_Mutation_p.T382A|IFLTD1_ENST00000445693.1_Missense_Mutation_p.T319A|IFLTD1_ENST00000458174.2_Missense_Mutation_p.T403A	NM_001256266.1	NP_001243195.1	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	382						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GACTCAGATGTCTTCTTTTTC	0.338000													13	14					0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	132998454	132998454	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:132998454G>A	ENST00000254624.5	+	17	2108	c.1883G>A	c.(1882-1884)cGa>cAa	p.R628Q	EFR3A_ENST00000519656.1_Missense_Mutation_p.R592Q|EFR3A_ENST00000334503.4_Missense_Mutation_p.R628Q	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	628						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATTGAAATTCGAACTATGGAA	0.313000													10	15					0	0	1	0	0
LEMD2	221496	broad.mit.edu	37	6	33752202	33752202	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:33752202G>A	ENST00000293760.5	-	3	799	c.780C>T	c.(778-780)ttC>ttT	p.F260F	LEMD2_ENST00000508327.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	260						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TGGCCTGACAGAACTGGAAAG	0.532000													24	39					0	0	1	0	0
CLDN2	9075	broad.mit.edu	37	X	106171927	106171927	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:106171927A>C	ENST00000541806.1	+	2	988	c.469A>C	c.(469-471)Aaa>Caa	p.K157Q	CLDN2_ENST00000540876.1_Missense_Mutation_p.K157Q|CLDN2_ENST00000336803.1_Missense_Mutation_p.K157Q	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	157					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGACAGCATGAAATTTGAGAT	0.478000													69	7					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135269589	135269589	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:135269589A>C	ENST00000285968.6	+	8	1078	c.1052A>C	c.(1051-1053)gAa>gCa	p.E351A	NUP205_ENST00000440390.2_Missense_Mutation_p.E145A	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	351					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCTCTGGCAGAATTCACAGAG	0.388000													18	15					0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43008979	43008979	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:43008979C>T	ENST00000587309.1	-	11	1567	c.1544G>A	c.(1543-1545)cGt>cAt	p.R515H	KIF18B_ENST00000438933.2_Missense_Mutation_p.R515H|KIF18B_ENST00000593135.1_Missense_Mutation_p.R503H|KIF18B_ENST00000339151.4_Missense_Mutation_p.R515H|KIF18B_ENST00000590129.1_Missense_Mutation_p.R524H	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTGCTTAGAACGGTCCCCATC	0.567000													50	61					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101606808	101606808	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:101606808G>T	ENST00000370449.4	+	30	4350	c.4237G>T	c.(4237-4239)Gct>Tct	p.A1413S		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1413	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTTGGAGCTGGCTCACCTCAA	0.527000													98	138					1.50328e-30	2.06092e-30	1	1	0
EPB41L4B	54566	broad.mit.edu	37	9	112018118	112018118	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:112018118T>G	ENST00000374566.3	-	10	1452	c.935A>C	c.(934-936)aAa>aCa	p.K312T	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.K312T	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	312	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTGGTAATTTTAGGCCTAGT	0.393000													26	36					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119914985	119914985	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:119914985G>A	ENST00000331113.4	+	1	1264	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	100					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AATTTCTACCGCACTGGGAAG	0.522000													112	134					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52000606	52000606	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:52000606A>C	ENST00000291707.3	-	6	1554	c.1499T>G	c.(1498-1500)gTt>gGt	p.V500G	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.V382G	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	500					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGCTCACACAACGAAGATGAT	0.572000													39	69					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56393466	56393466	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:56393466C>A	ENST00000355701.3	-	16	2886	c.2016G>T	c.(2014-2016)gaG>gaT	p.E672D	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E612D|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E672D	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	672	SH3 1.					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)					CTTCTGGATTCTCATTGGGAC	0.522000													26	41					4.43304e-23	5.81727e-23	1	1	0
TMEM214	54867	broad.mit.edu	37	2	27259972	27259972	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:27259972C>T	ENST00000238788.9	+	8	998	c.936C>T	c.(934-936)ttC>ttT	p.F312F	TMEM214_ENST00000404032.3_Silent_p.F267F	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	312						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCAAGGGCTTCGGCATGATTG	0.567000													62	96					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996048	19996048	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:19996048A>C	ENST00000391403.2	-	1	1830	c.1727T>G	c.(1726-1728)tTt>tGt	p.F576C		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	576						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGGTGGAGGAAACATCATCCT	0.498000													44	39					0	0	1	0	0
SFRP5	6425	broad.mit.edu	37	10	99527340	99527340	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:99527340G>T	ENST00000266066.3	-	3	1003	c.885C>A	c.(883-885)gtC>gtA	p.V295V		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	295	NTR.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		ACATGAATTTGACTGCAAACT	0.577000													23	43					1.22574e-08	1.35143e-08	1	1	0
ABCG1	9619	broad.mit.edu	37	21	43705996	43705996	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:43705996G>A	ENST00000398437.1	+	9	1451	c.1303G>A	c.(1303-1305)Gtc>Atc	p.V435I	ABCG1_ENST00000361802.2_Missense_Mutation_p.V289I|ABCG1_ENST00000340588.4_Missense_Mutation_p.V397I|ABCG1_ENST00000343687.3_Missense_Mutation_p.V300I|ABCG1_ENST00000347800.2_Missense_Mutation_p.V286I|ABCG1_ENST00000398449.3_Missense_Mutation_p.V289I|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.V291I			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	289	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCAGCTTTACGTCCTGAGTCA	0.493000													108	139					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114290889	114290889	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:114290889G>T	ENST00000297405.5	-	3	690	c.446C>A	c.(445-447)tCt>tAt	p.S149Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.S109Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.S149Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.S149Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	149	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAGAACACAGATTTGGTACT	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	42					7.33532e-06	7.76792e-06	1	1	0
C9	735	broad.mit.edu	37	5	39311416	39311416	+	Missense_Mutation	SNP	C	C	T	rs147710831		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:39311416C>T	ENST00000263408.4	-	7	1029	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	312	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGCACAACATCGCGATTTCTC	0.368000													33	44					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105921768	105921768	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:105921768T>C	ENST00000357060.3	-	26	3480	c.3365A>G	c.(3364-3366)gAc>gGc	p.D1122G	WDR96_ENST00000428666.1_Missense_Mutation_p.D1123G	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1122										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCCATCATGTCCATCAGAGC	0.473000													147	195					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50790854	50790854	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:50790854A>T	ENST00000433963.1	+	20	3600	c.3100A>T	c.(3100-3102)Aat>Tat	p.N1034Y	RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000396444.3_Missense_Mutation_p.N1034Y|USP8_ENST00000425032.3_Missense_Mutation_p.N928Y|USP8_ENST00000307179.4_Missense_Mutation_p.N1034Y			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1034					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CCCGTTAGAAAATCTTGACTT	0.343000													35	37					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8230148	8230148	+	Silent	SNP	C	C	T	rs147408044	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:8230148C>T	ENST00000539824.1	+	12	2873	c.2499C>T	c.(2497-2499)ttC>ttT	p.F833F	SH3TC1_ENST00000245105.3_Silent_p.F909F			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	909							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGGCCAACTTCGGGGCCCTGT	0.711000													40	32					0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53930396	53930396	+	Silent	SNP	G	G	A	rs112444758		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:53930396G>A	ENST00000371445.3	+	3	892	c.837G>A	c.(835-837)ccG>ccA	p.P279P		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	279	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CGCTTCCACCGCAGCCCCAGT	0.667000													37	41					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38835884	38835884	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:38835884C>A	ENST00000359357.3	+	46	6343	c.6089C>A	c.(6088-6090)aCt>aAt	p.T2030N	DNAH8_ENST00000441566.1_Missense_Mutation_p.T1994N|DNAH8_ENST00000449981.2_Missense_Mutation_p.T2247N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTATTGAGGACTCTTGGATCT	0.368000													21	25					1.64113e-05	1.72627e-05	1	1	0
ZNF354A	6940	broad.mit.edu	37	5	178139833	178139833	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:178139833G>T	ENST00000335815.2	-	5	1243	c.1046C>A	c.(1045-1047)tCt>tAt	p.S349Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	349					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CTTCTTTCTAGAATGAATTCT	0.393000													38	45					3.76114e-14	4.46431e-14	1	1	0
ZDBF2	57683	broad.mit.edu	37	2	207173927	207173927	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:207173927G>T	ENST00000374423.3	+	5	5061	c.4675G>T	c.(4675-4677)Gat>Tat	p.D1559Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1559							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GACTGTCAAAGATATCAGCTG	0.393000													9	1					3.09899e-07	3.35435e-07	1	1	0
SBF2	81846	broad.mit.edu	37	11	9812136	9812136	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:9812136G>T	ENST00000256190.8	-	34	4802	c.4665C>A	c.(4663-4665)ttC>ttA	p.F1555L	SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000525636.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1555	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AATAATTAAAGAAAATGGGAC	0.313000													52	66					1.38658e-30	1.90142e-30	1	1	0
GPR123	84435	broad.mit.edu	37	10	134940809	134940809	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:134940809C>T	ENST00000607359.1	+	15	2634	c.2634C>T	c.(2632-2634)taC>taT	p.Y878Y	GPR123_ENST00000392606.2_Silent_p.Y61Y|GPR123_ENST00000392607.3_Silent_p.Y158Y			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	158						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TCAGGAATTACGGGACAGAGG	0.642000													4	11					0	0	1	0	0
ARL5B	221079	broad.mit.edu	37	10	18957482	18957482	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:18957482C>T	ENST00000377275.3	+	3	364	c.131C>T	c.(130-132)aCt>aTt	p.T44I		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	44					small GTPase mediated signal transduction	intracellular	GTP binding			lung(1)|ovary(1)	2						GTGGTTCATACTTCTCCAACC	0.373000													16	32					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160232768	160232768	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:160232768C>T	ENST00000610273.1	+	11	1027	c.856C>T	c.(856-858)Cta>Tta	p.L286L	PNLDC1_ENST00000392167.3_Silent_p.L297L	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TATCCACAGCCTATTTCCTGT	0.383000													28	59					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148596504	148596504	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:148596504C>A	ENST00000296046.3	+	5	495	c.443C>A	c.(442-444)aCt>aAt	p.T148N	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	148					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.T148N(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ATTGGATCTACTGTTGAAGAT	0.294000													26	55					4.7796e-09	5.296e-09	1	1	0
DENND4B	9909	broad.mit.edu	37	1	153903077	153903077	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:153903077C>T	ENST00000361217.4	-	27	4701	c.4283G>A	c.(4282-4284)gGa>gAa	p.G1428E		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1428										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACGGTAGATTCCCCTTTAGTG	0.537000													16	22					0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79117323	79117323	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:79117323G>T	ENST00000442371.1	+	3	965	c.26G>T	c.(25-27)aGa>aTa	p.R9I	GCNT1_ENST00000444201.2_Missense_Mutation_p.R9I|GCNT1_ENST00000488136.1_3'UTR|GCNT1_ENST00000376730.4_Missense_Mutation_p.R9I|GCNT1_ENST00000536223.1_Missense_Mutation_p.R9I	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	9					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						CTGCGAAGGAGACTTTTTTCT	0.398000													23	42					3.73808e-20	4.79096e-20	1	1	0
MAFB	9935	broad.mit.edu	37	20	39317266	39317266	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:39317266C>T	ENST00000373313.2	-	1	614	c.225G>A	c.(223-225)ccG>ccA	p.P75P	MAFB_ENST00000396967.1_Silent_p.P75P	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	75					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				TCTGTTCGGTCGGGCTGAAGC	0.667000			T	IGH@	MM								42	59					0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111351056	111351056	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:111351056G>A	ENST00000228841.8	-	5	394	c.347C>T	c.(346-348)gCt>gTt	p.A116V	MYL2_ENST00000548438.1_Missense_Mutation_p.A102V	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	116	EF-hand 2.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TCACTAATCAGCCTTCAGCAC	0.547000													32	41					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31729689	31729689	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:31729689C>T	ENST00000320027.5	-	3	612	c.268G>A	c.(268-270)Gat>Aat	p.D90N	HSPH1_ENST00000429785.2_5'UTR|HSPH1_ENST00000445273.2_Missense_Mutation_p.D92N|HSPH1_ENST00000380406.5_Missense_Mutation_p.D90N|HSPH1_ENST00000380405.4_Missense_Mutation_p.D90N	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	90					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGAACCAAATCGTAACTCAAG	0.333000													20	43					0	0	1	0	0
DSCR10	259234	broad.mit.edu	37	21	39580698	39580698	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:39580698G>T	ENST00000432141.1	+	0	820					NR_027695.1																						GTCTTAAATTGAACTTAGAAC	0.249000													9	9					0.000274275	0.000283032	1	1	0
SLMO1	10650	broad.mit.edu	37	18	12420378	12420378	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:12420378G>T	ENST00000592149.1	+	1	447	c.24G>T	c.(22-24)atG>atT	p.M8I	SLMO1_ENST00000590956.1_Intron|SLMO1_ENST00000336990.4_Missense_Mutation_p.M29I|SLMO1_ENST00000440960.1_Missense_Mutation_p.M29I			Q96N28	SLMO1_HUMAN	slowmo homolog 1 (Drosophila)	29	PRELI/MSF1.									endometrium(1)	1						CGAACCCGATGAACCCGAGCG	0.726000													10	9					2.27111e-07	2.46276e-07	1	1	0
SLC15A2	6565	broad.mit.edu	37	3	121643813	121643813	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:121643813C>A	ENST00000489711.1	+	13	1445	c.1057C>A	c.(1057-1059)Ctt>Att	p.L353I	SLC15A2_ENST00000295605.2_Missense_Mutation_p.L322I	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	353					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CCTTCTGGTTCTTATCTTCAT	0.383000													58	88					1.12612e-26	1.51198e-26	1	1	0
OR5AU1	390445	broad.mit.edu	37	14	21624049	21624049	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:21624049C>T	ENST00000304418.3	-	1	173	c.136G>A	c.(136-138)Gca>Aca	p.A46T		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CAGTGCTCTGCGATGGAGAAA	0.522000													52	43					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151124309	151124309	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:151124309A>G	ENST00000370325.1	-	7	861	c.808T>C	c.(808-810)Ttc>Ctc	p.F270L	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.F270L			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	270					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					ACATTGAAGAAAATCGTCATG	0.478000													75	3					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87025630	87025630	+	Missense_Mutation	SNP	G	G	A	rs144781260	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:87025630G>A	ENST00000370563.3	+	2	217	c.175G>A	c.(175-177)Gct>Act	p.A59T	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	59						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGTGACTACAGCTTCTACGTA	0.348000													88	82					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633745	70633745	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:70633745G>A	ENST00000381269.2	-	2	2148	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S	SLC8A3_ENST00000356921.2_Silent_p.S465S|SLC8A3_ENST00000528359.1_Silent_p.S465S|SLC8A3_ENST00000534137.1_Silent_p.S465S|SLC8A3_ENST00000357887.3_Silent_p.S465S	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	465	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTATGCCCACGGAGAACTCCT	0.512000													116	132					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47726236	47726236	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:47726236G>T	ENST00000525123.1	-	7	730	c.445C>A	c.(445-447)Ctt>Att	p.L149I	AGBL2_ENST00000357610.3_Missense_Mutation_p.L149I|AGBL2_ENST00000298861.4_Missense_Mutation_p.L149I|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.L111I	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	149					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TCATCATAAAGAAGCTGTCTG	0.453000													37	61					4.0492e-12	4.67714e-12	1	1	0
TAS1R1	80835	broad.mit.edu	37	1	6639095	6639095	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:6639095C>A	ENST00000333172.6	+	6	2170	c.1977C>A	c.(1975-1977)atC>atA	p.I659I	TAS1R1_ENST00000351136.3_Silent_p.I405I|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	659					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TAATCATCATCTTCAAGTTTT	0.537000													47	53					5.7616e-29	7.85847e-29	1	1	0
PLVAP	83483	broad.mit.edu	37	19	17471606	17471606	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:17471606G>A	ENST00000252590.4	-	4	1276	c.1215C>T	c.(1213-1215)ggC>ggT	p.G405G		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	405						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGGGACAGGGCCCATGGGCC	0.607000													27	26					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6623340	6623340	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:6623340C>T	ENST00000264670.6	-	5	835	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000506139.1_Missense_Mutation_p.R140Q|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	175						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ATGATGAGGCCGCACGTTGAG	0.408000													24	32					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99148023	99148023	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:99148023T>C	ENST00000370992.4	-	8	1114	c.1003A>G	c.(1003-1005)Acc>Gcc	p.T335A	RRP12_ENST00000315563.6_Missense_Mutation_p.T235A|RRP12_ENST00000414986.1_Missense_Mutation_p.T274A|RRP12_ENST00000536831.1_Intron	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	335						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGGCTCAAGGTCATGACCCTG	0.592000													22	36					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177083257	177083257	+	Nonsense_Mutation	SNP	G	G	T	rs6810394		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:177083257G>T	ENST00000393643.2	+	21	3034	c.2782G>T	c.(2782-2784)Gaa>Taa	p.E928*	WDR17_ENST00000508596.1_Nonsense_Mutation_p.E928*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.E935*|WDR17_ENST00000280190.4_Nonsense_Mutation_p.E952*	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	952										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGAACTGGCAGAATGGTATTT	0.338000													15	26					2.23348e-06	2.38223e-06	1	1	0
TRIM62	55223	broad.mit.edu	37	1	33613111	33613111	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:33613111G>A	ENST00000291416.5	-	5	1328	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	TRIM62_ENST00000543586.1_Silent_p.I244I	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	365	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GTGCCAGCCCGATCACCCACT	0.622000													29	31					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74886303	74886303	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:74886303T>G	ENST00000515295.1	+	10	1407	c.1394T>G	c.(1393-1395)tTt>tGt	p.F465C	POLK_ENST00000506928.1_Intron|POLK_ENST00000241436.4_Intron|POLK_ENST00000380481.3_Intron|POLK_ENST00000352007.5_Intron|POLK_ENST00000504026.1_Intron|POLK_ENST00000508526.1_Intron			Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	0					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTTTTTAAGTTTTTTAATAGT	0.318000								DNA polymerases (catalytic subunits)					16	16					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102646038	102646038	+	Missense_Mutation	SNP	C	C	A	rs61751515		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:102646038C>A	ENST00000279441.4	-	7	983	c.947G>T	c.(946-948)aGa>aTa	p.R316I		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	316	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CCAGTGGGATCTTCGCCAAAA	0.333000													15	30					1.15088e-07	1.25258e-07	1	1	0
SPTBN1	6711	broad.mit.edu	37	2	54826327	54826327	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:54826327C>T	ENST00000333896.5	+	2	593	c.208C>T	c.(208-210)Cga>Tga	p.R70*	SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.R83*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	83	Actin-binding.|CH 1.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CACTGACCTTCGAGATGGACG	0.542000													53	78					0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12863671	12863671	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:12863671G>A	ENST00000155926.4	+	2	1975	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	TRIB2_ENST00000381465.2_Missense_Mutation_p.E50K|TRIB2_ENST00000405331.3_Missense_Mutation_p.E186K	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	186	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.E186K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTTAAGGACGAAGAGAGGTA	0.532000													24	28					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149240944	149240944	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:149240944G>T	ENST00000407073.1	+	10	3781	c.2784G>T	c.(2782-2784)gtG>gtT	p.V928V	MBD5_ENST00000404807.1_Silent_p.V928V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	928						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CTTTGCCAGTGAATCAACAGC	0.463000													79	115					2.88734e-31	3.96553e-31	1	1	0
POLD3	10714	broad.mit.edu	37	11	74345713	74345713	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:74345713G>T	ENST00000263681.2	+	10	1221	c.1092G>T	c.(1090-1092)aaG>aaT	p.K364N	POLD3_ENST00000527458.1_Missense_Mutation_p.K325N|POLD3_ENST00000532497.1_Missense_Mutation_p.K258N	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	364					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CAGTGCCAAAGACTGAGCCTG	0.468000													36	40					1.07121e-22	1.40259e-22	1	1	0
SLAMF1	6504	broad.mit.edu	37	1	160589632	160589632	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:160589632C>T	ENST00000302035.6	-	5	1147	c.798G>A	c.(796-798)acG>acA	p.T266T	SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000355199.3_Silent_p.T266T|SLAMF1_ENST00000235739.5_Silent_p.T236T	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	266					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGTAATGGTTCGTTTTACCTG	0.438000													59	68					0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112227677	112227677	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:112227677A>C	ENST00000261733.2	+	5	552	c.491A>C	c.(490-492)gAc>gCc	p.D164A	RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.T161P|ALDH2_ENST00000416293.3_Missense_Mutation_p.D117A	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	164					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ATCCCCATTGACGGAGACTTC	0.532000			T	HMGA2	leiomyoma								17	34					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75289664	75289664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:75289664C>A	ENST00000339859.4	-	14	1934	c.1834G>T	c.(1834-1836)Gaa>Taa	p.E612*	USP54_ENST00000319786.7_Nonsense_Mutation_p.E612*|USP54_ENST00000408019.1_Nonsense_Mutation_p.E612*|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Nonsense_Mutation_p.E462*|USP54_ENST00000394811.2_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	612					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.E612*(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGTATAAATTCTTTAGCTATC	0.458000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	40					2.20474e-14	2.6298e-14	1	1	0
BNC2	54796	broad.mit.edu	37	9	16437199	16437199	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:16437199G>T	ENST00000380672.4	-	6	1050	c.993C>A	c.(991-993)gtC>gtA	p.V331V	BNC2_ENST00000380667.2_Silent_p.V264V|BNC2_ENST00000380666.2_Silent_p.V331V|BNC2_ENST00000545497.1_Silent_p.V236V	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGGTGCTGAGACAGGGTTTA	0.473000													77	84					1.03218e-28	1.4064e-28	1	1	0
KLF10	7071	broad.mit.edu	37	8	103664009	103664009	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:103664009G>T	ENST00000395884.3	-	3	1420	c.518C>A	c.(517-519)tCt>tAt	p.S173Y	KLF10_ENST00000285407.6_Missense_Mutation_p.S184Y	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	184					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TCTTCTAAAAGAATTGTTCTG	0.458000											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	78					7.41606e-26	9.90479e-26	1	1	0
PRPF40A	55660	broad.mit.edu	37	2	153529498	153529498	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:153529498C>A	ENST00000410080.1	-	12	1740	c.1199G>T	c.(1198-1200)cGa>cTa	p.R400L		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	427	FF 1.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						CTACCTGTATCGTGGATCATT	0.313000													15	38					6.94344e-10	7.7891e-10	1	1	0
MAP1B	4131	broad.mit.edu	37	5	71490855	71490855	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:71490855G>A	ENST00000296755.7	+	5	1971	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	558						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)		AAATCCGTGCGCAAGGAGTCA	0.463000													29	32					0	0	1	0	0
SLC9A7	84679	broad.mit.edu	37	X	46510553	46510553	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:46510553C>T	ENST00000328306.4	-	10	1364	c.1339G>A	c.(1339-1341)Gga>Aga	p.G447R		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	447					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						ACAAAAGCTCCGATGATGAAA	0.398000													16	3					0	0	1	0	0
LEO1	123169	broad.mit.edu	37	15	52258527	52258527	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:52258527T>C	ENST00000299601.5	-	2	293	c.233A>G	c.(232-234)gAt>gGt	p.D78G	LEO1_ENST00000315141.5_Missense_Mutation_p.D78G	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	78	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		AGAGTGATTATCACTACCACT	0.443000													77	93					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124382244	124382244	+	Missense_Mutation	SNP	C	C	T	rs141752094	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:124382244C>T	ENST00000287394.5	-	7	855	c.748G>A	c.(748-750)Gac>Aac	p.D250N	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	250	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			tGTTCTTGGTCTTCACCCTCT	0.363000													23	23					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357102	13357102	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:13357102G>T	ENST00000276297.4	-	2	888	c.479C>A	c.(478-480)tCt>tAt	p.S160Y	DLC1_ENST00000511869.1_Missense_Mutation_p.S160Y|DLC1_ENST00000316609.5_Missense_Mutation_p.S160Y	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	160					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGAGTTAGAAGAAACTTGGTT	0.423000													75	76					7.33394e-39	1.02845e-38	1	1	0
GDF10	2662	broad.mit.edu	37	10	48429206	48429206	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:48429206G>T	ENST00000224605.2	-	2	945	c.680C>A	c.(679-681)tCt>tAt	p.S227Y		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	227					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CCTCTCCTCAGAATCCAGCTG	0.697000													24	13					5.35047e-06	5.67955e-06	1	1	0
CIB3	117286	broad.mit.edu	37	19	16275614	16275614	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:16275614G>T	ENST00000269878.4	-	5	506	c.457C>A	c.(457-459)Ctg>Atg	p.L153M	CIB3_ENST00000379859.3_Missense_Mutation_p.L104M|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	153	EF-hand 3.						calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GCCTCATCCAGCACCTTCTCA	0.597000													30	38					3.99451e-17	4.94492e-17	1	1	0
GPNMB	10457	broad.mit.edu	37	7	23300226	23300226	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:23300226C>T	ENST00000258733.4	+	6	1147	c.852C>T	c.(850-852)agC>agT	p.S284S	GPNMB_ENST00000381990.2_Silent_p.S284S|GPNMB_ENST00000539136.1_Silent_p.S185S|GPNMB_ENST00000453162.2_Silent_p.S226S			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	284	PKD.				negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACAAGTGGAGCTTCGGGGATA	0.438000													80	67					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10622593	10622593	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:10622593G>A	ENST00000547195.1	-	14	2116	c.1616C>T	c.(1615-1617)tCg>tTg	p.S539L	MRVI1_ENST00000424001.1_Missense_Mutation_p.S315L|MRVI1_ENST00000527509.2_Missense_Mutation_p.S539L|MRVI1_ENST00000541483.1_Missense_Mutation_p.S424L|MRVI1_ENST00000558540.1_Missense_Mutation_p.S315L|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000545852.1_Missense_Mutation_p.S315L|MRVI1_ENST00000552103.1_Missense_Mutation_p.S539L|MRVI1_ENST00000534266.2_Missense_Mutation_p.S315L|MRVI1_ENST00000531107.1_Missense_Mutation_p.S622L|MRVI1_ENST00000423302.2_Missense_Mutation_p.S630L|MRVI1_ENST00000436272.1_Missense_Mutation_p.S603L|MRVI1_ENST00000421747.1_Missense_Mutation_p.S621L	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	603	Interaction with ITPR1 (By similarity).				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CGTTGCTTTCGACATGCGCTT	0.502000													120	146					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38791338	38791338	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:38791338G>A	ENST00000359357.3	+	26	3324	c.3070G>A	c.(3070-3072)Gaa>Aaa	p.E1024K	DNAH8_ENST00000441566.1_Splice_Site_p.E1024K|DNAH8_ENST00000449981.2_Splice_Site_p.E1241K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTACCACAGGAATTTTTGGC	0.308000													26	38					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726503	63726503	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:63726503C>A	ENST00000421025.1	+	5	761	c.492C>A	c.(490-492)gtC>gtA	p.V164V	ZNF679_ENST00000255746.4_Silent_p.V164V	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GTGTCAAAGTCTTCGGCAAAT	0.333000													13	6					1.36491e-13	1.60792e-13	1	1	0
TGFB3	7043	broad.mit.edu	37	14	76446913	76446913	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:76446913G>A	ENST00000238682.3	-	1	621	c.324C>T	c.(322-324)ttC>ttT	p.F108F	TGFB3_ENST00000556285.1_Silent_p.F108F	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	108					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		GGATCATGTCGAATTTATGGA	0.577000													61	81					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	33952676	33952676	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:33952676G>A	ENST00000257209.4	+	3	428	c.306G>A	c.(304-306)acG>acA	p.T102T	FHOD3_ENST00000359247.4_Silent_p.T102T|FHOD3_ENST00000590592.1_Silent_p.T102T|FHOD3_ENST00000445677.1_Silent_p.T102T	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	102	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCCTAAGGACGCAGCTGTCTG	0.502000													17	16					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207162008	207162008	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:207162008G>A	ENST00000374423.3	+	4	485	c.99G>A	c.(97-99)caG>caA	p.Q33Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	33							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGACCAGACAGAGTAGACGTC	0.388000													29	2					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25464703	25464703	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:25464703G>A	ENST00000376351.3	+	1	713	c.354G>A	c.(352-354)gcG>gcA	p.A118A	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	118						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGGCCAGCGCGCACCCCTCCT	0.657000													45	67					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78011465	78011465	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:78011465G>T	ENST00000435339.3	+	2	1485	c.1099G>T	c.(1099-1101)Gaa>Taa	p.E367*		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4							integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATTAATGCTAGAATCCACCTT	0.358000													5	36					0.014758	0.0149174	1	1	0
KCNA3	3738	broad.mit.edu	37	1	111216045	111216045	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:111216045G>T	ENST00000369769.2	-	1	1610	c.1387C>A	c.(1387-1389)Ctc>Atc	p.L463I		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	463						voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.L463V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGGCACAGAGAGATCCCACA	0.542000													24	41					1.1804e-14	1.4124e-14	1	1	0
TTN	7273	broad.mit.edu	37	2	179549099	179549099	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179549099G>T	ENST00000589042.1	-	132	32904	c.32680C>A	c.(32680-32682)Ctt>Att	p.L10894I	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L9650I|TTN_ENST00000591111.1_Missense_Mutation_p.L10577I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10577	Glu-rich.|Pro-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)			ACAGCAACAAGAACTTTTTCT	0.373000													13	20					4.3838e-07	4.73159e-07	1	1	0
CHL1	10752	broad.mit.edu	37	3	440760	440760	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:440760C>T	ENST00000256509.2	+	26	3956	c.3314C>T	c.(3313-3315)gCg>gTg	p.A1105V	CHL1_ENST00000397491.2_Missense_Mutation_p.A1089V	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1089					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTGATGTGTGCGATTGCTCTT	0.363000													46	51					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142496512	142496512	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:142496512C>T	ENST00000273482.6	+	4	960	c.569C>T	c.(568-570)gCt>gTt	p.A190V	TRPC1_ENST00000476941.1_Missense_Mutation_p.A224V	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	224					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GCCAGTCCAGCTCTAATAATG	0.338000													11	16					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131812678	131812678	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:131812678G>A	ENST00000286355.5	-	15	5146	c.3054C>T	c.(3052-3054)ttC>ttT	p.F1018F	ADCY8_ENST00000377928.3_Silent_p.F887F	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1018					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTACCTCATCGAAGTCAGCAA	0.398000										HNSCC(32;0.087)			61	66					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178426963	178426963	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:178426963C>T	ENST00000448150.3	+	14	3321	c.2503C>T	c.(2503-2505)Cgg>Tgg	p.R835W	RASAL2_ENST00000462775.1_Missense_Mutation_p.R705W|RASAL2_ENST00000367649.3_Missense_Mutation_p.R846W	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	705					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TCCTAATGGTCGGAGCGTCTC	0.498000													31	52					0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905108	15905108	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:15905108G>A	ENST00000308940.8	+	1	348	c.250G>A	c.(250-252)Gac>Aac	p.D84N		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CATGCTGGCCGACCTGCTGTC	0.612000													38	37					0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11333929	11333929	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:11333929A>C	ENST00000376810.5	+	1	667	c.341A>C	c.(340-342)aAa>aCa	p.K114T	UBIAD1_ENST00000376804.2_Missense_Mutation_p.K114T	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	114					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		ATTGACCACAAAAAGAGTGAT	0.562000													43	53					0	0	1	0	0
TRIM72	493829	broad.mit.edu	37	16	31230452	31230452	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:31230452G>A	ENST00000322122.3	+	3	711	c.427G>A	c.(427-429)Gca>Aca	p.A143T		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	143					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GCTGCAGGAGGCATGCATGCG	0.617000													7	5					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77656988	77656988	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:77656988C>A	ENST00000461745.1	+	21	4076	c.3176C>A	c.(3175-3177)tCt>tAt	p.S1059Y	ROBO2_ENST00000487694.3_Missense_Mutation_p.S1075Y|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1059Y	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1059					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAAAACTCTTCTAAACCACAG	0.438000													20	25					5.35267e-07	5.77499e-07	1	1	0
KIAA1210	57481	broad.mit.edu	37	X	118221778	118221778	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:118221778A>T	ENST00000402510.2	-	11	3414	c.3415T>A	c.(3415-3417)Ttc>Atc	p.F1139I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1139										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCCCGCTCGAAATTTGAGGAC	0.468000													74	8					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64172258	64172258	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:64172258C>T	ENST00000262150.2	-	12	2402	c.2110G>A	c.(2110-2112)Gaa>Aaa	p.E704K		NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	704					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTAGCTTCTTCGAGCTTTTCC	0.498000													56	62					0	0	1	0	0
PSMA5	5686	broad.mit.edu	37	1	109957867	109957867	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:109957867G>A	ENST00000271308.4	-	3	235	c.215C>T	c.(214-216)gCt>gTt	p.A72V	PSMA5_ENST00000538610.1_Missense_Mutation_p.A14V|PSMA5_ENST00000490870.1_5'UTR	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	72					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		ACCTATGTGAGCATCAATCTC	0.458000													28	28					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60184343	60184343	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:60184343G>T	ENST00000300187.6	+	5	2179	c.1902G>T	c.(1900-1902)gaG>gaT	p.E634D	MS4A14_ENST00000531787.1_Missense_Mutation_p.E522D|MS4A14_ENST00000531783.1_Missense_Mutation_p.E667D|MS4A14_ENST00000395005.2_Missense_Mutation_p.E617D	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	634	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTCAGGTGGAGAAAGTGCCAA	0.483000													36	36					1.06647e-15	1.29438e-15	1	1	0
HMX3	340784	broad.mit.edu	37	10	124896740	124896740	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:124896740C>T	ENST00000357878.5	+	2	656	c.567C>T	c.(565-567)ggC>ggT	p.G189G		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	189					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AAAAGGAAGGCGAAGCGGCGC	0.652000													4	6					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506145	178506145	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:178506145C>A	ENST00000315475.6	+	5	1018	c.712C>A	c.(712-714)Cat>Aat	p.H238N		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCAGAGAATTCATACAGGTGA	0.403000													31	27					5.77227e-19	7.29122e-19	1	1	0
MFSD2B	388931	broad.mit.edu	37	2	24246002	24246002	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:24246002G>A	ENST00000338315.4	+	11	1062	c.1062G>A	c.(1060-1062)gcG>gcA	p.A354A	MFSD2B_ENST00000406420.3_Silent_p.A354A			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	354					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CTCCCCAGGCGATGGTGCCCT	0.612000													84	87					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7369927	7369927	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:7369927A>G	ENST00000311403.4	-	3	533	c.194T>C	c.(193-195)cTa>cCa	p.L65P	ZBTB4_ENST00000380599.4_Missense_Mutation_p.L65P	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	65	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TGGAAGGGGTAGTGGGGCTGA	0.617000													15	20					0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88732610	88732610	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:88732610G>T	ENST00000226284.5	+	7	569	c.502G>T	c.(502-504)Gaa>Taa	p.E168*		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	168	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		aagcgaagcagaagTGGATGA	0.463000													26	35					1.64293e-13	1.93246e-13	1	1	0
ITPR2	3709	broad.mit.edu	37	12	26812056	26812056	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:26812056G>A	ENST00000381340.3	-	16	2292	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	626					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.R626W(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CTTGGCTCCCGATTTCTCCTG	0.338000													29	38					0	0	1	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152226674	152226674	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:152226674G>T	ENST00000243347.3	+	4	610	c.535G>T	c.(535-537)Gat>Tat	p.D179Y		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	179	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		GAGTTTTTTAGATTTTGACCT	0.408000													51	96					2.14674e-31	2.9499e-31	1	1	0
MYH4	4622	broad.mit.edu	37	17	10355741	10355741	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:10355741C>T	ENST00000255381.2	-	26	3450	c.3340G>A	c.(3340-3342)Gaa>Aaa	p.E1114K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1114					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						ACCTGTAATTCTTTGATCTTC	0.383000													19	33					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31320283	31320283	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:31320283T>G	ENST00000269197.5	+	11	2915	c.2915T>G	c.(2914-2916)tTt>tGt	p.F972C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	972					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAACACAGCTTTGGAATCTGT	0.443000													9	17					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173578	126173578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:126173578C>T	ENST00000339582.2	-	9	2666	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	GRM8_ENST00000358373.3_Missense_Mutation_p.E620K|GRM8_ENST00000444921.2_Missense_Mutation_p.E620K|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	620					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.E620K(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TAACTAAGTTCGCGTCCTGAA	0.458000										HNSCC(24;0.065)			31	36					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10557877	10557877	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:10557877G>A	ENST00000304519.5	+	4	810	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	261										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GAACCTCAACGCCCCCACCCC	0.592000													26	29					0	0	1	0	0
TPD52L3	89882	broad.mit.edu	37	9	6329005	6329005	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:6329005G>T	ENST00000344545.5	+	1	657	c.410G>T	c.(409-411)aGa>aTa	p.R137I	TPD52L3_ENST00000381428.1_Intron|TPD52L3_ENST00000314556.3_Intron	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	137							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		GGGGGCAAAAGAGCTTGGCCC	0.542000													25	32					6.32553e-13	7.3784e-13	1	1	0
DNM1P34	729809	broad.mit.edu	37	15	75594066	75594066	+	RNA	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:75594066A>C	ENST00000567292.1	-	0	503																											CGAGAAGATAAACTCCTTGTT	0.587000													4	6					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80223161	80223161	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:80223161C>T	ENST00000392959.1	-	4	1099	c.488G>A	c.(487-489)cGt>cAt	p.R163H	LCA5_ENST00000467898.3_Missense_Mutation_p.R163H|LCA5_ENST00000369846.4_Missense_Mutation_p.R163H	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	163					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		ATTGTTATGACGAAATATAAG	0.348000													29	25					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114119	147114119	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:147114119C>A	ENST00000383075.3	-	3	720	c.208G>T	c.(208-210)Gac>Tac	p.D70Y	ZIC4_ENST00000473123.1_Missense_Mutation_p.D70Y|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.D108Y|ZIC4_ENST00000525172.2_Missense_Mutation_p.D120Y|ZIC4_ENST00000484399.1_Missense_Mutation_p.D70Y	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	70						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCGTACATGTCTCCAGGGAGC	0.726000													14	14					4.3838e-07	4.73159e-07	1	1	0
PARP4	143	broad.mit.edu	37	13	25027774	25027774	+	Missense_Mutation	SNP	G	G	A	rs35274308	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:25027774G>A	ENST00000381989.3	-	23	2882	c.2777C>T	c.(2776-2778)tCg>tTg	p.S926L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	926	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CTTAGGATACGAAAATAGCTC	0.423000													25	39					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43372262	43372262	+	Missense_Mutation	SNP	C	C	T	rs138243478	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:43372262C>T	ENST00000244296.2	-	5	1371	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	PSG1_ENST00000436291.2_Missense_Mutation_p.E412K|PSG1_ENST00000312439.6_Missense_Mutation_p.E412K|PSG1_ENST00000595356.1_Missense_Mutation_p.E412K|PSG1_ENST00000403380.3_Missense_Mutation_p.E319K|PSG1_ENST00000595124.1_Missense_Mutation_p.E319K	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CCAGAGACTTCGACTGTCATG	0.463000													163	163					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66938122	66938122	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:66938122C>A	ENST00000269080.2	-	2	191	c.54G>T	c.(52-54)aaG>aaT	p.K18N	ABCA8_ENST00000430352.2_Missense_Mutation_p.K18N|ABCA8_ENST00000586539.1_Missense_Mutation_p.K18N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	18						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TAAGAAAGTTCTTGCATAATA	0.323000													29	30					1.88708e-17	2.34369e-17	1	1	0
TMEM62	80021	broad.mit.edu	37	15	43476504	43476504	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:43476504T>C	ENST00000260403.2	+	14	1931	c.1652T>C	c.(1651-1653)tTg>tCg	p.L551S	RP11-473C18.3_ENST00000565685.1_RNA|EPB42_ENST00000563128.1_Intron|TMEM62_ENST00000569369.1_3'UTR	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	551						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TGTTGGAGCTTGCTGCAGCGG	0.438000													54	70					0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157803231	157803231	+	Missense_Mutation	SNP	C	C	T	rs146902396		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:157803231C>T	ENST00000368174.4	-	5	886	c.790G>A	c.(790-792)Gta>Ata	p.V264I		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	264	SRCR 3.				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)			GAGCCCCATACGCCCTTGTGC	0.567000													84	101					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103248980	103248980	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:103248980C>A	ENST00000553106.1	-	6	1112	c.640G>T	c.(640-642)Gaa>Taa	p.E214*	PAH_ENST00000307000.2_Nonsense_Mutation_p.E209*	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	214					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CAGTACTTTTCAAGAAGTGGA	0.443000													36	40					6.03168e-27	8.12502e-27	1	1	0
TEX15	56154	broad.mit.edu	37	8	30705342	30705342	+	Missense_Mutation	SNP	T	T	C	rs141499635	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:30705342T>C	ENST00000256246.2	-	1	1266	c.1192A>G	c.(1192-1194)Aca>Gca	p.T398A		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	398										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAAATAACTGTATCAATGAAC	0.333000													35	39					0	0	1	0	0
LMO3	55885	broad.mit.edu	37	12	16704182	16704182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:16704182C>A	ENST00000320122.6	-	4	934	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	LMO3_ENST00000537304.1_Nonsense_Mutation_p.E138*|LMO3_ENST00000535535.1_Nonsense_Mutation_p.E138*|LMO3_ENST00000540848.1_Nonsense_Mutation_p.E138*|LMO3_ENST00000534946.1_Nonsense_Mutation_p.E138*|LMO3_ENST00000447609.1_Nonsense_Mutation_p.E138*|LMO3_ENST00000540445.1_Nonsense_Mutation_p.E160*|LMO3_ENST00000261169.6_Nonsense_Mutation_p.E149*|LMO3_ENST00000541846.1_Nonsense_Mutation_p.E138*|LMO3_ENST00000441439.2_Nonsense_Mutation_p.E138*|LMO3_ENST00000541295.1_Nonsense_Mutation_p.E156*|LMO3_ENST00000354662.1_Nonsense_Mutation_p.E138*	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				GCATAACCTTCTTTCATTAAA	0.348000													36	43					7.04047e-22	9.13993e-22	1	1	0
COL19A1	1310	broad.mit.edu	37	6	70642726	70642726	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:70642726G>A	ENST00000322773.4	+	7	820	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	240					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CATAGCTCAAGAAACATGTTG	0.303000													15	9					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22927528	22927528	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:22927528C>T	ENST00000166244.3	+	15	2748	c.2676C>T	c.(2674-2676)ctC>ctT	p.L892L		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	892	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAGTGTCCTCGATGCGCTCA	0.667000													28	47					0	0	1	0	0
XRCC6	2547	broad.mit.edu	37	22	42033762	42033762	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:42033762G>A	ENST00000359308.4	+	5	1395	c.740G>A	c.(739-741)cGc>cAc	p.R247H	XRCC6_ENST00000405878.1_Missense_Mutation_p.R247H|XRCC6_ENST00000405506.1_Missense_Mutation_p.R197H|XRCC6_ENST00000360079.3_Missense_Mutation_p.R247H|XRCC6_ENST00000402580.3_Missense_Mutation_p.R206H|XRCC6_ENST00000428575.2_Missense_Mutation_p.R114H			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	247					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CGGAAGGTTCGCGCCAAGGAG	0.562000								Non-homologous end-joining					12	17					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77649127	77649127	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:77649127T>C	ENST00000354212.4	-	22	4126	c.3873A>G	c.(3871-3873)gaA>gaG	p.E1291E	MAGI2_ENST00000419488.1_Silent_p.E1277E|MAGI2_ENST00000522391.1_3'UTR	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1291				E -> K (in Ref. 1; AAC05370).		cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAACGTCGTGTTCCCGTTTGA	0.632000													49	67					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20199616	20199616	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:20199616T>C	ENST00000400331.5	-	5	676	c.368A>G	c.(367-369)cAt>cGt	p.H123R	MACC1_ENST00000332878.4_Missense_Mutation_p.H123R|MACC1_ENST00000589011.1_Missense_Mutation_p.H123R	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	123					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AAGTAACTGATGCACATCAAG	0.363000													15	24					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44662100	44662100	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:44662100G>A	ENST00000426739.2	+	6	2189	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	ZNF234_ENST00000592437.1_Missense_Mutation_p.R644Q	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TATCATAGGCGAGTTCACACT	0.418000													52	52					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247655343	247655343	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:247655343C>A	ENST00000522351.1	+	0	974							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GAAGAAACTTCTGGGGTGGGA	0.502000													59	55					6.09941e-20	7.808e-20	1	1	0
KLHL28	54813	broad.mit.edu	37	14	45400552	45400552	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:45400552C>A	ENST00000396128.4	-	4	1655	c.1536G>T	c.(1534-1536)atG>atT	p.M512I	KLHL28_ENST00000355081.2_Missense_Mutation_p.M526I	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	512										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TAGGTTCTTTCATTGGTCTAC	0.343000													17	17					3.41278e-10	3.84949e-10	1	1	0
ENDOV	284131	broad.mit.edu	37	17	78409985	78409985	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:78409985G>A	ENST00000520284.1	+	6	603	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	ENDOV_ENST00000517795.1_3'UTR|ENDOV_ENST00000518901.1_3'UTR|ENDOV_ENST00000518907.1_Missense_Mutation_p.R62Q|ENDOV_ENST00000520367.1_3'UTR|ENDOV_ENST00000518137.1_3'UTR			Q8N8Q3	ENDOV_HUMAN	endonuclease V	0					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						attcctgatcGAACGCGGTGG	0.542000								Direct reversal of damage					11	25					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225661079	225661079	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:225661079G>A	ENST00000409592.3	-	44	4987	c.4874C>T	c.(4873-4875)tCg>tTg	p.S1625L	DOCK10_ENST00000258390.7_Missense_Mutation_p.S1631L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1631	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AATTGCAAGCGAATGTTGAAA	0.373000													3	0					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196837029	196837029	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:196837029T>G	ENST00000312428.6	-	16	2095	c.1995A>C	c.(1993-1995)gaA>gaC	p.E665D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	665	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTCAAAAATTTCTCCCATCC	0.363000													32	8					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16254924	16254924	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:16254924C>T	ENST00000259727.4	+	4	537	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	141					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	p.F141F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TTGTGGAATTCGTGAAACTTG	0.448000													45	80					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37190424	37190424	+	RNA	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:37190424A>C	ENST00000425901.2	+	0	2534					NR_033753.2																						TCTTCACAGAAATTTCCAAGG	0.348000													40	36					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132643915	132643915	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:132643915C>T	ENST00000367963.3	-	8	1326	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q	MOXD1_ENST00000336749.3_Missense_Mutation_p.R335Q|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	403					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CTTCCCTTTTCGAAAATGACG	0.428000													27	42					0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142395115	142395115	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:142395115G>A	ENST00000337777.3	+	5	694	c.481G>A	c.(481-483)Gat>Aat	p.D161N	PLS1_ENST00000457734.2_Missense_Mutation_p.D161N|PLS1_ENST00000497002.1_Missense_Mutation_p.D161N	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	161	Actin-binding 1.|CH 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GTCACTTGCAGATGGCATCCT	0.413000													72	92					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76211873	76211873	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:76211873G>A	ENST00000298832.9	+	17	1641	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	TTLL5_ENST00000556893.1_Missense_Mutation_p.R17Q|TTLL5_ENST00000554510.1_5'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.R493Q|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	479					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AATGATCGGCGAGGTGGATTT	0.373000													26	55					0	0	1	0	0
CDK2AP2	10263	broad.mit.edu	37	11	67274967	67274967	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:67274967G>A	ENST00000301488.3	-	3	730	c.182C>T	c.(181-183)gCg>gTg	p.A61V	CDK2AP2_ENST00000531506.1_Splice_Site_p.A61V	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	61										lung(1)	1						TGGCTTCATCGCCTATGTCAA	0.612000													30	56					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37441474	37441474	+	Silent	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:37441474T>G	ENST00000415168.1	+	5	1603	c.1227T>G	c.(1225-1227)ccT>ccG	p.P409P	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Silent_p.P473P	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAGAAACCTTATGAATGCA	0.393000													37	44					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18266918	18266918	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:18266918A>G	ENST00000377369.2	+	5	1112	c.839A>G	c.(838-840)aAc>aGc	p.N280S	SLC39A12_ENST00000377374.4_Missense_Mutation_p.N280S|SLC39A12_ENST00000377371.3_Missense_Mutation_p.N280S|SLC39A12_ENST00000539911.1_Missense_Mutation_p.N146S	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	280					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAACAAAACAACATAATAACC	0.368000													50	83					0	0	1	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61405142	61405142	+	RNA	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:61405142T>G	ENST00000496593.1	+	0	1746					NR_002775.2																						TTAGCCAGCTTTATTTGCaaa	0.353000													12	21					0	0	1	0	0
COPS2	9318	broad.mit.edu	37	15	49431751	49431751	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:49431751G>T	ENST00000388901.5	-	4	419	c.346C>A	c.(346-348)Ctt>Att	p.L116I	COPS2_ENST00000299259.6_Missense_Mutation_p.L116I|COPS2_ENST00000542928.1_Missense_Mutation_p.L52I	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	116					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ATATAATCAAGAATAGAATTA	0.323000													24	31					5.45024e-15	6.5479e-15	1	1	0
CLDN10	9071	broad.mit.edu	37	13	96086260	96086260	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:96086260C>A	ENST00000376873.3	+	1	403	c.173C>A	c.(172-174)tCt>tAt	p.S58Y		NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	60					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.S58Y(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GCGTTGGGTTCTTTCCATTGC	0.493000													31	47					5.91797e-21	7.63069e-21	1	1	0
AHSG	197	broad.mit.edu	37	3	186335128	186335128	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:186335128G>A	ENST00000411641.2	+	4	781	c.562G>A	c.(562-564)Gct>Act	p.A188T	AHSG_ENST00000273784.5_Missense_Mutation_p.A189T			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	188	Cystatin fetuin-A-type 2.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		AATTTCCCGGGCTCAGCTTGT	0.567000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	43					0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5717804	5717804	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:5717804C>A	ENST00000379965.3	+	2	619	c.342C>A	c.(340-342)gtC>gtA	p.V114V	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	114					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		ATGGAAAAGTCATTTGCTGGG	0.478000													38	36					1.90571e-15	2.30404e-15	1	1	0
PTGER2	5732	broad.mit.edu	37	14	52781609	52781609	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:52781609G>A	ENST00000245457.5	+	1	497	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	115						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CTTCGCTTTCGCCATGACCTT	0.647000													47	45					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74347528	74347528	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:74347528C>A	ENST00000226355.3	+	1	129	c.36C>A	c.(34-36)ttC>ttA	p.F12L		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	12					vitamin transport		vitamin E binding	p.F12L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTATTTTTTTCTTGTTTTTTT	0.313000													12	13					7.03913e-09	7.78993e-09	1	1	0
DPP4	1803	broad.mit.edu	37	2	162891739	162891739	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:162891739C>T	ENST00000360534.3	-	9	1269	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	237					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	AAGGAGTATTCAATAAGTGGG	0.453000													28	46					0	0	1	0	0
HMG20B	10362	broad.mit.edu	37	19	3576607	3576607	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:3576607C>A	ENST00000333651.6	+	7	651	c.576C>A	c.(574-576)ttC>ttA	p.F192L		NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	192					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAAGAGTTCTTGGACCAAA	0.572000													7	14					1.12685e-05	1.18835e-05	1	1	0
FNDC9	408263	broad.mit.edu	37	5	156770215	156770215	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:156770215C>T	ENST00000312349.4	-	2	517	c.330G>A	c.(328-330)caG>caA	p.Q110Q	CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000318218.6_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	110						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						AAAGGGAGATCTGGGGGTCTA	0.587000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	51					0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	724561	724561	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:724561C>A	ENST00000584307.1	-	12	1665	c.1495G>T	c.(1495-1497)Gaa>Taa	p.E499*	YES1_ENST00000577961.1_Nonsense_Mutation_p.E504*|YES1_ENST00000314574.4_Nonsense_Mutation_p.E499*			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	499	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TGGAGGGATTCTGGACAGCCC	0.423000													29	43					3.73988e-18	4.68078e-18	1	1	0
ANKRD13C	81573	broad.mit.edu	37	1	70766571	70766571	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:70766571T>G	ENST00000370944.4	-	7	1110	c.797A>C	c.(796-798)gAc>gCc	p.D266A	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.D231A	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	266					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						GTCAGTAAAGTCTATGAGAGT	0.363000													24	30					0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96360280	96360280	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:96360280C>A	ENST00000266736.2	+	8	1293	c.1187C>A	c.(1186-1188)tCa>tAa	p.S396*		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	396					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						ATCATCAATTCATCCCGGTGA	0.448000													66	96					9.4991e-31	1.30295e-30	1	1	0
FNDC3A	22862	broad.mit.edu	37	13	49772296	49772296	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:49772296C>T	ENST00000492622.2	+	22	2974	c.2669C>T	c.(2668-2670)tCg>tTg	p.S890L	FNDC3A_ENST00000398316.3_Missense_Mutation_p.S834L|FNDC3A_ENST00000541916.1_Missense_Mutation_p.S890L	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	890	Fibronectin type-III 7.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GATCATGGTTCGGAAATCCTT	0.393000													55	83					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544160	53544160	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:53544160G>A	ENST00000371500.3	+	10	1406	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	PODN_ENST00000395871.2_Silent_p.A232A|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Silent_p.A374A	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	326					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	p.A374A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCGTGGACGCGAATGTGCTGA	0.652000													45	55					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836755	43836755	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:43836755C>A	ENST00000372781.3	+	2	874	c.817C>A	c.(817-819)Ctc>Atc	p.L273I	SEMG1_ENST00000244069.6_Missense_Mutation_p.L273I	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GACAAAAAATCTCAATCAAGA	0.393000													46	70					7.05121e-23	9.24616e-23	1	1	0
RASL11B	65997	broad.mit.edu	37	4	53730647	53730647	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:53730647A>C	ENST00000248706.3	+	3	420	c.202A>C	c.(202-204)Aat>Cat	p.N68H	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	68	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CTTCATAGGTAATCTCTATAC	0.368000													111	133					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039340	11039340	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:11039340C>A	ENST00000470054.1	-	0	863									B melanoma antigen family, member 2															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)		TCAATTTGATCTTCGCCACAA	0.378000													16	272					1.5739e-10	1.78284e-10	1	1	0
PEX1	5189	broad.mit.edu	37	7	92131273	92131273	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:92131273C>T	ENST00000248633.4	-	14	2442	c.2347G>A	c.(2347-2349)Gat>Aat	p.D783N	PEX1_ENST00000428214.1_Missense_Mutation_p.D726N|PEX1_ENST00000438045.1_Missense_Mutation_p.D461N|PEX1_ENST00000541751.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	783					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ACTGTAAAATCTCTAGCCACA	0.383000													106	126					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923560	24923560	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:24923560G>A	ENST00000329468.2	+	1	3020	c.2546G>A	c.(2545-2547)cGa>cAa	p.R849Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GAGTACATCCGATTTTATATG	0.502000													52	56					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70589054	70589054	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:70589054G>A	ENST00000302516.5	+	13	1866	c.1655G>A	c.(1654-1656)cGa>cAa	p.R552Q		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	552					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GTGAACCAGCGACAAGTGGTG	0.468000													60	99					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14216513	14216513	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:14216513G>T	ENST00000403951.2	-	25	2677	c.2258C>A	c.(2257-2259)tCt>tAt	p.S753Y	DGKB_ENST00000406247.3_Missense_Mutation_p.S753Y|DGKB_ENST00000258767.5_Missense_Mutation_p.S753Y|DGKB_ENST00000399322.3_Missense_Mutation_p.S753Y|DGKB_ENST00000407950.1_Missense_Mutation_p.S745Y|DGKB_ENST00000402815.1_Missense_Mutation_p.S752Y|DGKB_ENST00000444700.2_Missense_Mutation_p.S734Y			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	753					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|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CATTGGCAGAGACTTGCTCGT	0.408000													64	83					1.43987e-31	1.98112e-31	1	1	0
TSPAN32	10077	broad.mit.edu	37	11	2325406	2325406	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:2325406T>C	ENST00000182290.4	+	3	388	c.251T>C	c.(250-252)gTg>gCg	p.V84A	TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000381121.3_Missense_Mutation_p.V84A|TSPAN32_ENST00000451520.2_Missense_Mutation_p.V73A	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	84					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GCAGCCACCGTGAGGGAGGCC	0.627000													3	3					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76869398	76869398	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:76869398A>G	ENST00000409709.3	+	9	1197	c.925A>G	c.(925-927)Atg>Gtg	p.M309V	MYO7A_ENST00000458637.2_Missense_Mutation_p.M309V|MYO7A_ENST00000409893.1_Missense_Mutation_p.M309V|MYO7A_ENST00000409619.2_Missense_Mutation_p.M298V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	309	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAAGGTGCTCATGTTCACTGA	0.622000													11	23					0	0	1	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17363213	17363213	+	Silent	SNP	G	G	A	rs141961243		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:17363213G>A	ENST00000377602.4	-	8	935	c.861C>T	c.(859-861)ctC>ctT	p.L287L		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	287					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.L287L(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TAGACTCTTCGAGCGTGTAGT	0.443000													100	108					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66420925	66420925	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:66420925C>A	ENST00000341529.3	+	3	572	c.424C>A	c.(424-426)Cat>Aat	p.H142N	CDH5_ENST00000563425.2_Missense_Mutation_p.H142N	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	142	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CATCAAAGTTCATGACGTGAA	0.542000													17	30					4.14922e-12	4.78853e-12	1	1	0
NEFL	4747	broad.mit.edu	37	8	24811806	24811806	+	RNA	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:24811806T>G	ENST00000221169.5	-	0	1652							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATTTTCTAATTTGTTGATCGT	0.353000													55	42					0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187126406	187126406	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:187126406C>A	ENST00000378802.4	+	8	1344	c.1040C>A	c.(1039-1041)tCt>tAt	p.S347Y	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	347					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		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;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CTGTTGGGTTCTAACCCAGAA	0.428000													50	59					1.67753e-36	2.3395e-36	1	1	0
CST8	10047	broad.mit.edu	37	20	23472204	23472204	+	Translation_Start_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:23472204C>A	ENST00000246012.1	+	0	257					NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)							extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CTCGAAGATTCTTGAACCCAC	0.582000													15	19					1.05317e-09	1.17995e-09	1	1	0
C10orf118	55088	broad.mit.edu	37	10	115922908	115922908	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:115922908A>G	ENST00000369287.3	-	2	386	c.120T>C	c.(118-120)aaT>aaC	p.N40N	C10orf118_ENST00000369285.3_Silent_p.N40N|C10orf118_ENST00000369286.1_Silent_p.N40N	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	40										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		GTTTGGACTCATTTTCTAATT	0.338000													62	62					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404621	20404621	+	Missense_Mutation	SNP	C	C	T	rs147347995		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:20404621C>T	ENST00000285600.4	+	1	855	c.796C>T	c.(796-798)Cct>Tct	p.P266S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P266S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TAGCAGACTTCCTGTGGACAA	0.413000													42	112					0	0	1	0	0
CLK4	57396	broad.mit.edu	37	5	178030726	178030726	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:178030726C>A	ENST00000316308.4	-	13	1506	c.1338G>T	c.(1336-1338)gaG>gaT	p.E446D		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	446	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CAAACAGTTTCTCATGTTCTT	0.318000													21	27					2.89027e-11	3.30697e-11	1	1	0
IMPA1	3612	broad.mit.edu	37	8	82591399	82591399	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:82591399G>T	ENST00000256108.5	-	4	729	c.264C>A	c.(262-264)atC>atA	p.I88I	IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000449740.2_Silent_p.I147I|IMPA1_ENST00000311489.4_Silent_p.I88I	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	88					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	TAGGGTCAATGATCCATGTGG	0.343000													23	16					7.87624e-14	9.31353e-14	1	1	0
ZNF85	7639	broad.mit.edu	37	19	21132776	21132776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:21132776G>T	ENST00000601023.1	+	2	1925	c.1279G>T	c.(1279-1281)Gaa>Taa	p.E427*	ZNF85_ENST00000328178.8_Nonsense_Mutation_p.E486*|ZNF85_ENST00000345030.6_Nonsense_Mutation_p.E453*			Q03923	ZNF85_HUMAN	zinc finger protein 85	486						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CAAATGTGAAGAATGTGGCAA	0.358000													23	18					1.55795e-14	1.85956e-14	1	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627793	43627793	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:43627793C>A	ENST00000332857.6	-	4	922	c.894G>T	c.(892-894)caG>caT	p.Q298H	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GAGGATCTTGCTGGACTGATG	0.557000													154	19					1.11019e-86	1.60017e-86	1	1	0
VAX2	25806	broad.mit.edu	37	2	71148245	71148245	+	Missense_Mutation	SNP	C	C	T	rs139950648		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:71148245C>T	ENST00000234392.2	+	2	297	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	89					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						AGGGACAATTCGGGAAATTGT	0.527000													22	19					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36596435	36596435	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:36596435G>T	ENST00000299440.5	+	2	1693	c.1581G>T	c.(1579-1581)aaG>aaT	p.K527N		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	527					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CACCTCTGAAGAATGTGTCTT	0.498000									Familial Hemophagocytic Lymphohistiocytosis				35	43					3.76114e-14	4.46431e-14	1	1	0
AKIRIN2	55122	broad.mit.edu	37	6	88387650	88387650	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:88387650C>A	ENST00000257787.5	-	3	939	c.415G>T	c.(415-417)Gaa>Taa	p.E139*		NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	139					innate immune response|transcription, DNA-dependent	transcriptional repressor complex				large_intestine(4)	4						AAGGGCTGTTCTTTTTTTAAT	0.373000													30	29					3.86903e-22	5.0338e-22	1	1	0
COX7A2	1347	broad.mit.edu	37	6	75950914	75950914	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:75950914G>A	ENST00000370081.2	-	3	492	c.182C>T	c.(181-183)cCg>cTg	p.P61L	COX7A2_ENST00000472311.2_Missense_Mutation_p.P29L|COX7A2_ENST00000509698.1_Missense_Mutation_p.P29L|COX7A2_ENST00000370089.2_Missense_Mutation_p.P61L|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000230459.4_Missense_Mutation_p.P29L			P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	29						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			kidney(2)|lung(1)	3						TTGCTTCTCCGGAACTTTATT	0.353000													80	92					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31233466	31233466	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:31233466C>T	ENST00000255304.4	+	9	3594	c.3252C>T	c.(3250-3252)ttC>ttT	p.F1084F		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1084					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TACCTCATTTCGATGAATATC	0.299000													21	24					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117663707	117663707	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:117663707C>T	ENST00000368508.3	-	28	4723	c.4525G>A	c.(4525-4527)Gaa>Aaa	p.E1509K	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site_p.E1503K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1509	Fibronectin type-III 6.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCCTGAAATTCCTGTAATTGA	0.254000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								7	10					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56935607	56935607	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:56935607A>C	ENST00000333201.9	+	5	1790	c.1580A>C	c.(1579-1581)aAa>aCa	p.K527T	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.K527T	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GATTGCAGGAAATCTTTCAGG	0.408000													54	75					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91867005	91867005	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:91867005A>C	ENST00000394507.1	-	7	1114	c.331T>G	c.(331-333)Ttt>Gtt	p.F111V	KRIT1_ENST00000394503.2_Missense_Mutation_p.F111V|KRIT1_ENST00000412043.2_Missense_Mutation_p.F111V|KRIT1_ENST00000394505.2_Missense_Mutation_p.F111V|KRIT1_ENST00000340022.2_Missense_Mutation_p.F111V	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	111					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGAACAATAAATAATGATGCT	0.299000													16	21					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171700662	171700662	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:171700662C>A	ENST00000358196.3	+	7	1296	c.746C>A	c.(745-747)tCt>tAt	p.S249Y	GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	249					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGGATATTTTCTCCTGGTAGG	0.353000													24	28					3.08376e-08	3.38111e-08	1	1	0
ATP8A1	10396	broad.mit.edu	37	4	42580379	42580379	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:42580379C>A	ENST00000381668.5	-	12	1257	c.1026G>T	c.(1024-1026)ctG>ctT	p.L342L	ATP8A1_ENST00000264449.10_Silent_p.L342L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	342					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCAAGAAATTCAGTCCAAAAT	0.353000													37	46					6.19805e-25	8.23678e-25	1	1	0
ABCC12	94160	broad.mit.edu	37	16	48174765	48174765	+	Missense_Mutation	SNP	C	C	T	rs141807269	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:48174765C>T	ENST00000311303.3	-	4	835	c.490G>A	c.(490-492)Gga>Aga	p.G164R	ABCC12_ENST00000448542.1_Missense_Mutation_p.G164R|ABCC12_ENST00000416054.1_Missense_Mutation_p.G164R	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	164	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATGCACAGTCCAATGCCAACC	0.542000													41	50					0	0	1	0	0
TRMT61B	55006	broad.mit.edu	37	2	29084014	29084014	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:29084014G>A	ENST00000306108.5	-	3	986	c.963C>T	c.(961-963)acC>acT	p.T321T	TRMT61B_ENST00000484060.1_5'UTR	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	321							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						TTATGTCTTCGGTTGCTCCTG	0.373000													33	60					0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16901054	16901054	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:16901054C>A	ENST00000310398.2	-	6	391	c.321G>T	c.(319-321)aaG>aaT	p.K107N	AGR3_ENST00000402239.3_Missense_Mutation_p.K107N	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	107						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GTGATAAATTCTTATCAGTGG	0.323000													37	34					5.71845e-15	6.86858e-15	1	1	0
ART3	419	broad.mit.edu	37	4	77003171	77003171	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:77003171G>T	ENST00000355810.4	+	3	383	c.264G>T	c.(262-264)atG>atT	p.M88I	ART3_ENST00000341029.5_Missense_Mutation_p.M88I|ART3_ENST00000513494.1_3'UTR|ART3_ENST00000349321.3_Missense_Mutation_p.M88I	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	88					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTCTCCCTATGAATTTTAAGG	0.428000													33	35					8.88839e-20	1.13456e-19	1	1	0
HERC4	26091	broad.mit.edu	37	10	69804295	69804295	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:69804295T>G	ENST00000395198.3	-	4	499	c.252A>C	c.(250-252)caA>caC	p.Q84H	HERC4_ENST00000412272.2_Missense_Mutation_p.Q84H|HERC4_ENST00000373700.4_Missense_Mutation_p.Q84H|HERC4_ENST00000395187.2_Intron	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	84					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CTACAATATTTTGGGCATCCA	0.418000													35	46					0	0	1	0	0
JRKL	8690	broad.mit.edu	37	11	96124137	96124137	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:96124137C>A	ENST00000458427.1	+	1	980	c.324C>A	c.(322-324)ttC>ttA	p.F108L	JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Missense_Mutation_p.F108L	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	108	HTH CENPB-type.				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GGGCAGAGTTCTTCTTTTATG	0.438000													35	63					6.03168e-27	8.12502e-27	1	1	0
IL16	3603	broad.mit.edu	37	15	81558023	81558023	+	Missense_Mutation	SNP	G	G	A	rs34414744		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:81558023G>A	ENST00000394660.2	+	4	805	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	IL16_ENST00000302987.4_Missense_Mutation_p.E149K	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	149					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TTGCACAAGAGAAATTGATTT	0.423000											OREG0023362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	14					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14801734	14801734	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:14801734C>A	ENST00000380881.4	-	21	4428	c.3613G>T	c.(3613-3615)Gac>Tac	p.D1205Y	FREM1_ENST00000422223.2_Missense_Mutation_p.D1204Y|FREM1_ENST00000380880.3_Missense_Mutation_p.D1204Y			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1204					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCAGAGAAGTCTTTGCTAAAC	0.522000													43	44					2.26627e-22	2.95936e-22	1	1	0
TTN	7273	broad.mit.edu	37	2	179558367	179558367	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179558367G>A	ENST00000589042.1	-	119	31787	c.31563C>T	c.(31561-31563)gcC>gcT	p.A10521A	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.A9277A|TTN_ENST00000591111.1_Silent_p.A10204A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10204	Glu-rich.|Pro-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)			TTTTGGAAATGGCAACGTGAA	0.308000													4	11					0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86616112	86616112	+	Missense_Mutation	SNP	G	G	A	rs149519006		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:86616112G>A	ENST00000325875.3	+	3	543	c.211G>A	c.(211-213)Gat>Aat	p.D71N		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	71					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TCTTTTACCCGATGGCATTTT	0.383000													41	48					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86965372	86965372	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:86965372C>A	ENST00000234701.3	+	15	2740	c.2389C>A	c.(2389-2391)Ctt>Att	p.L797I	CLCA1_ENST00000394711.1_Missense_Mutation_p.L797I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	797					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)		TACAAGTATTCTTGATCTCAG	0.328000													26	27					1.66031e-10	1.87872e-10	1	1	0
SMOC2	64094	broad.mit.edu	37	6	168949875	168949875	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:168949875A>C	ENST00000354536.5	+	7	882	c.662A>C	c.(661-663)aAg>aCg	p.K221T	SMOC2_ENST00000356284.2_Missense_Mutation_p.K210T	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	210	Thyroglobulin type-1 2.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		AAAACCAATAAGAATTCAGGT	0.358000													20	28					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37487391	37487391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:37487391C>T	ENST00000379066.1	-	15	2783	c.2021G>A	c.(2020-2022)cGa>cAa	p.R674Q	PRKD3_ENST00000234179.2_Missense_Mutation_p.R674Q			O94806	KPCD3_HUMAN	protein kinase D3	674	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTTAGTAATTCGTTCTGGAAG	0.323000													17	18					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47401193	47401193	+	Splice_Site	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:47401193A>C	ENST00000310638.4	-	5	667		c.e5+1		CYP4A11_ENST00000371905.1_Splice_Site|CYP4A11_ENST00000462347.1_Splice_Site|CYP4A11_ENST00000371904.4_Splice_Site|CYP4A11_ENST00000457840.2_Splice_Site	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11						long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GTTGTCACTGACCTGTCCACC	0.577000													24	48					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10532977	10532977	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:10532977C>T	ENST00000583535.1	-	40	5820	c.5733G>A	c.(5731-5733)gcG>gcA	p.A1911A	MYH3_ENST00000226209.7_Silent_p.A1911A	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1911					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGCGATATCCGCACGTTCCT	0.567000													32	50					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151669965	151669965	+	Missense_Mutation	SNP	G	G	A	rs138659689		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:151669965G>A	ENST00000402676.2	+	4	679	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000359755.5_Missense_Mutation_p.E42K|AKAP12_ENST00000253332.1_Missense_Mutation_p.E147K|AKAP12_ENST00000354675.6_Missense_Mutation_p.E49K	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	147					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CGAAATAATCGAACAGATTCC	0.428000													36	55					0	0	1	0	0
SLC10A4	201780	broad.mit.edu	37	4	48490918	48490918	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:48490918A>C	ENST00000273861.4	+	3	1495	c.1276A>C	c.(1276-1278)Aat>Cat	p.N426H		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	426						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GAAAGCAGAAAATATAATAAT	0.368000													35	34					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72345583	72345583	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:72345583A>C	ENST00000299687.5	+	1	2608	c.2608A>C	c.(2608-2610)Aga>Cga	p.R870R	ZNF407_ENST00000309902.6_Silent_p.R870R|ZNF407_ENST00000582337.1_Silent_p.R870R|ZNF407_ENST00000577538.1_Silent_p.R870R	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGTTCACATTAGACGAAAACA	0.413000													17	45					0	0	1	0	0
ARPC4	10093	broad.mit.edu	37	3	9843423	9843423	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:9843423C>T	ENST00000397261.3	+	4	877	c.313C>T	c.(313-315)Cga>Tga	p.R105*	ARPC4_ENST00000433034.1_Nonsense_Mutation_p.R124*|ARPC4_ENST00000498623.2_Nonsense_Mutation_p.R15*|ARPC4-TTLL3_ENST00000397256.1_Nonsense_Mutation_p.R105*|ARPC4_ENST00000287613.7_Nonsense_Mutation_p.R15*	NM_005718.4	NP_005709.1			actin related protein 2/3 complex, subunit 4, 20kDa											breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					CTTTATCCTTCGAAGGAAGCC	0.493000													6	3					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23257234	23257234	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:23257234G>T	ENST00000298032.5	+	8	816		c.e8-1		ARMC3_ENST00000409983.3_Splice_Site|ARMC3_ENST00000376528.4_Splice_Site|ARMC3_ENST00000409049.3_Splice_Site	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3								binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTATTATTAGGAATTGAATG	0.358000													17	28					0.160694	0.161178	1	1	0
FMO4	2329	broad.mit.edu	37	1	171303714	171303714	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:171303714C>T	ENST00000367749.3	+	8	1322	c.992C>T	c.(991-993)aCa>aTa	p.T331I		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	331					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACAGGATATACATTTTCTTTT	0.363000													38	51					0	0	1	0	0
STK38L	23012	broad.mit.edu	37	12	27462050	27462050	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:27462050C>T	ENST00000389032.3	+	5	482	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	STK38L_ENST00000539577.1_Missense_Mutation_p.R12W	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	105	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CTTTTAGGTGCGGTTGGTCCA	0.338000													17	19					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230201	21230201	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:21230201T>C	ENST00000233242.1	-	26	9666	c.9539A>G	c.(9538-9540)aAc>aGc	p.N3180S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3180	Basic (possible receptor binding region).|Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCTGTGTTTGTTTTTCTTATA	0.353000													26	31					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97078181	97078181	+	Missense_Mutation	SNP	T	T	C	rs144858557		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:97078181T>C	ENST00000371247.2	-	32	3896	c.3707A>G	c.(3706-3708)tAt>tGt	p.Y1236C	SORBS1_ENST00000306402.6_Missense_Mutation_p.Y725C|SORBS1_ENST00000371227.4_Missense_Mutation_p.Y1210C|SORBS1_ENST00000371239.1_Missense_Mutation_p.Y755C|SORBS1_ENST00000393949.1_Missense_Mutation_p.Y948C|SORBS1_ENST00000371249.2_Missense_Mutation_p.Y760C|SORBS1_ENST00000353505.5_Missense_Mutation_p.Y849C|SORBS1_ENST00000607232.1_Missense_Mutation_p.Y1238C|SORBS1_ENST00000371245.3_Missense_Mutation_p.Y849C|SORBS1_ENST00000371246.2_Missense_Mutation_p.Y1095C|SORBS1_ENST00000347291.4_Missense_Mutation_p.Y790C|SORBS1_ENST00000371241.1_Missense_Mutation_p.Y628C|SORBS1_ENST00000277982.5_Missense_Mutation_p.Y1095C|SORBS1_ENST00000361941.3_Missense_Mutation_p.Y1236C|SORBS1_ENST00000354106.3_Missense_Mutation_p.Y948C			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1236	SH3 3.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TAATGCTTGATAGCTAAATCT	0.323000													18	21					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20871889	20871889	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:20871889C>T	ENST00000262715.5	-	6	1227	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	396	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.R396H(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GACTGGAGAGCGGGGTGGCCG	0.627000													43	48					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46714218	46714218	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:46714218G>A	ENST00000371975.4	+	2	712	c.38G>A	c.(37-39)aGa>aAa	p.R13K	RAD54L_ENST00000442598.1_Missense_Mutation_p.R13K	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	13					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTGGCCAAGAGAAAACCTGAA	0.562000								Direct reversal of damage;Homologous recombination					19	29					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52394327	52394327	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:52394327G>A	ENST00000420323.2	+	28	4833	c.4572G>A	c.(4570-4572)agG>agA	p.R1524R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1524	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCACCGCCAGGTACTACTGGA	0.532000													27	22					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167254787	167254787	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:167254787C>T	ENST00000308378.3	-	7	1074	c.769G>A	c.(769-771)Gct>Act	p.A257T	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Splice_Site_p.A82T|WDR49_ENST00000453925.2_Splice_Site_p.A321T	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	257										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						ACAGTAATAGCCCTAGCAAAA	0.383000													20	24					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502683	140502683	+	Missense_Mutation	SNP	G	G	A	rs143711233	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140502683G>A	ENST00000194152.1	+	1	1103	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		368	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTATCTTCCGAATTCGAGAT	0.408000													79	87					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205117426	205117426	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:205117426G>T	ENST00000367162.3	-	12	2539	c.2509C>A	c.(2509-2511)Ctt>Att	p.L837I	DSTYK_ENST00000367161.3_Intron|DSTYK_ENST00000367160.4_Missense_Mutation_p.L496I	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	837	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TACCAGAAAAGAATTCCAAAA	0.483000													37	40					1.836e-18	2.30657e-18	1	1	0
PTPRC	5788	broad.mit.edu	37	1	198721736	198721736	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:198721736G>A	ENST00000367376.2	+	31	3509	c.3338G>A	c.(3337-3339)cGa>cAa	p.R1113Q	PTPRC_ENST00000594404.1_Missense_Mutation_p.R952Q|PTPRC_ENST00000352140.3_Missense_Mutation_p.R1065Q|PTPRC_ENST00000442510.2_Missense_Mutation_p.R1115Q|PTPRC_ENST00000348564.6_Missense_Mutation_p.R954Q	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1113	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAAGACTCTCGAACTGTGTAC	0.368000													16	21					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119947996	119947996	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:119947996G>T	ENST00000307142.4	+	3	668	c.472G>T	c.(472-474)Gaa>Taa	p.E158*	SYNPO2_ENST00000429713.2_Nonsense_Mutation_p.E158*|SYNPO2_ENST00000434046.2_Nonsense_Mutation_p.E158*|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	158						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAGCTTGAAAGAAGAAACAGG	0.537000													24	43					1.36565e-18	1.71931e-18	1	1	0
TPMT	7172	broad.mit.edu	37	6	18143853	18143853	+	Missense_Mutation	SNP	C	C	T	rs115106679	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:18143853C>T	ENST00000309983.4	-	4	425	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	114					xenobiotic metabolic process	cytosol	thiopurine S-methyltransferase activity			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Mercaptopurine(DB01033)	CCAGGAATTTCGGTGATTGGT	0.373000													8	47					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128994396	128994396	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:128994396C>A	ENST00000274487.4	+	15	2518	c.2373C>A	c.(2371-2373)atC>atA	p.I791I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	791	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CATGCAAGATCATTAAAGGGG	0.353000													48	62					6.17242e-35	8.58344e-35	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73151080	73151080	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:73151080T>C	ENST00000377110.3	-	25	5156	c.4913A>G	c.(4912-4914)tAc>tGc	p.Y1638C	TRPM3_ENST00000357533.2_Missense_Mutation_p.Y1642C|TRPM3_ENST00000396285.1_Missense_Mutation_p.Y1497C|TRPM3_ENST00000423814.3_Missense_Mutation_p.Y1665C|TRPM3_ENST00000360823.2_Missense_Mutation_p.Y1500C|TRPM3_ENST00000377105.1_Missense_Mutation_p.Y1497C|TRPM3_ENST00000377106.1_Missense_Mutation_p.Y1510C|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Missense_Mutation_p.Y1487C|TRPM3_ENST00000408909.2_Missense_Mutation_p.Y1497C|TRPM3_ENST00000358082.3_Missense_Mutation_p.Y1500C|TRPM3_ENST00000396292.4_Missense_Mutation_p.Y1510C			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTCTGCCGAGTAGCTGTTGGC	0.542000													259	324					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140262393	140262393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:140262393C>A	ENST00000340951.4	-	6	706	c.511G>T	c.(511-513)Gaa>Taa	p.E171*	EXD3_ENST00000479452.1_Nonsense_Mutation_p.E171*|EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000475006.1_5'UTR	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	171					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TTCACCTTTTCAACGCCAAGC	0.537000													8	15					2.17888e-05	2.28784e-05	1	1	0
TRPV3	162514	broad.mit.edu	37	17	3436052	3436052	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:3436052C>T	ENST00000301365.4	-	8	1095	c.964G>A	c.(964-966)Gac>Aac	p.D322N	TRPV3_ENST00000576742.1_Missense_Mutation_p.D322N|TRPV3_ENST00000572519.1_Missense_Mutation_p.D322N			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	322						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AGGATCATGTCGTACATGCGC	0.602000													19	25					0	0	1	0	0
RAB38	23682	broad.mit.edu	37	11	87883116	87883116	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:87883116T>G	ENST00000243662.6	-	2	292	c.210A>C	c.(208-210)gaA>gaC	p.E70D		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	70					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCCAAATCTTTCTTGACCTG	0.373000													158	132					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825571	4825571	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:4825571A>G	ENST00000380382.1	-	1	276	c.277T>C	c.(277-279)Tcc>Ccc	p.S93P	OR52R1_ENST00000356069.2_Missense_Mutation_p.S14P|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGATGAAGGACACAGGATGA	0.493000													29	35					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197069745	197069745	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:197069745A>C	ENST00000367409.4	-	18	8892	c.8636T>G	c.(8635-8637)tTt>tGt	p.F2879C	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2879	IQ 32.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATATAGTAAAAACTGTTTTCT	0.373000													18	24					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151962236	151962236	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:151962236G>T	ENST00000355193.2	-	8	1289	c.1071C>A	c.(1069-1071)ttC>ttA	p.F357L	KMT2C_ENST00000262189.6_Missense_Mutation_p.F357L					lysine (K)-specific methyltransferase 2C																		TAGTACAAAAGAACTGATCTA	0.423000													19	303					3.28513e-13	3.84286e-13	1	1	0
ZNF836	162962	broad.mit.edu	37	19	52659971	52659971	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:52659971C>T	ENST00000322146.8	-	5	1486	c.965G>A	c.(964-966)aGa>aAa	p.R322K	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.R322K	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGTGTGAATTCTCTGATGTAT	0.403000													20	20					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186671136	186671136	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:186671136G>A	ENST00000343098.5	+	17	17370	c.17370G>A	c.(17368-17370)tcG>tcA	p.S5790S	FSIP2_ENST00000424728.1_Silent_p.S5701S	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.S399S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CATATTATTCGAAACTCAGTT	0.343000													40	53					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112896797	112896797	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:112896797G>A	ENST00000161863.4	+	18	2450	c.2237G>A	c.(2236-2238)gGa>gAa	p.G746E		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	746	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGTAGACCTGGAATTTGTTTT	0.358000													18	27					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450167	158450167	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:158450167C>T	ENST00000368152.1	+	1	500	c.500C>T	c.(499-501)gCc>gTc	p.A167V	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTGGCAGCTGCCTGTGCAATT	0.468000													67	94					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135482093	135482093	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:135482093C>T	ENST00000394143.1	+	21	8684	c.8393C>T	c.(8392-8394)tCt>tTt	p.S2798F	GPR112_ENST00000370652.1_Missense_Mutation_p.S2798F|GPR112_ENST00000287534.4_Missense_Mutation_p.S2551F|GPR112_ENST00000412101.1_Missense_Mutation_p.S2593F|GPR112_ENST00000394141.1_Missense_Mutation_p.S2593F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2798					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTGATCAATTCTTGGTTGTCA	0.408000													4	61					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17674450	17674450	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:17674450C>T	ENST00000375448.4	+	10	1088	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	354					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AAATGGAGATCGGCTACATCC	0.582000													31	35					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19315921	19315921	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:19315921C>T	ENST00000461366.1	+	3	421	c.206C>T	c.(205-207)tCg>tTg	p.S69L	CTB-187M2.2_ENST00000579897.1_RNA|RNF112_ENST00000580109.1_3'UTR	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	69							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GACCCCATCTCGCTGGACTGT	0.652000													15	27					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19775870	19775870	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:19775870G>A	ENST00000284885.3	-	1	103	c.70C>T	c.(70-72)Ctc>Ttc	p.L24F		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	24					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATGGCAAAGAGAGCTGCAAAC	0.433000													43	76					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184863275	184863275	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:184863275C>A	ENST00000367511.3	-	3	445	c.252G>T	c.(250-252)aaG>aaT	p.K84N		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	84					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTTCCACTTCTTTATGTCTT	0.353000													46	41					6.21074e-16	7.57245e-16	1	1	0
IGHV4-34	28395	broad.mit.edu	37	14	106829813	106829813	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:106829813G>T	ENST00000390616.2	-	0	180																											ACCCACCATAGACAGCGCAGG	0.592000													36	54					3.86903e-22	5.0338e-22	1	1	0
ABCA4	24	broad.mit.edu	37	1	94471003	94471003	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:94471003G>A	ENST00000370225.3	-	44	6227	c.6141C>T	c.(6139-6141)atC>atT	p.I2047I	ABCA4_ENST00000536513.1_Silent_p.I317I|ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000535881.1_Silent_p.I166I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2047	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.I2047I(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCACCTTTTCGATTTCTTCTG	0.448000													51	41					0	0	1	0	0
GZMH	2999	broad.mit.edu	37	14	25076861	25076861	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:25076861G>A	ENST00000216338.4	-	3	340	c.296C>T	c.(295-297)gCc>gTc	p.A99V	GZMH_ENST00000382548.4_Missense_Mutation_p.A99V|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000557220.2_Intron	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	99	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		AGGATTATAGGCTGGATGGGG	0.522000													90	119					0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175110437	175110437	+	Silent	SNP	C	C	T	rs149131528	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:175110437C>T	ENST00000231683.2	+	1	1974	c.201C>T	c.(199-201)ctC>ctT	p.L67L	HRH2_ENST00000377291.2_Silent_p.L67L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	67					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	ACCTGCTCCTCGGCCTCCTGG	0.572000													58	60					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105483087	105483087	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:105483087C>T	ENST00000393127.2	+	3	619	c.173C>T	c.(172-174)tCg>tTg	p.S58L	GRIA4_ENST00000282499.5_Missense_Mutation_p.S58L|GRIA4_ENST00000428631.2_Missense_Mutation_p.S58L|GRIA4_ENST00000393125.2_Missense_Mutation_p.S58L|GRIA4_ENST00000527669.1_Missense_Mutation_p.S58L|GRIA4_ENST00000530497.1_Missense_Mutation_p.S58L|GRIA4_ENST00000525187.1_Missense_Mutation_p.S58L	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	58					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CCCAATGCGTCGGAAGCTCCT	0.398000													27	37					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	878543	878543	+	Missense_Mutation	SNP	C	C	T	rs76774211		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:878543C>T	ENST00000323510.4	-	8	909	c.910G>A	c.(910-912)Gac>Aac	p.D304N	BRD9_ENST00000467963.1_Missense_Mutation_p.D400N|BRD9_ENST00000388890.4_Missense_Mutation_p.D284N|BRD9_ENST00000483173.1_Missense_Mutation_p.D347N|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000435709.2_3'UTR			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	400							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GACTTCAAGTCGCCAAATACT	0.562000													19	85					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91234124	91234124	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:91234124G>T	ENST00000509176.1	+	3	1723	c.1435G>T	c.(1435-1437)Gat>Tat	p.D479Y	CCSER1_ENST00000432775.2_Missense_Mutation_p.D479Y|CCSER1_ENST00000333691.8_Missense_Mutation_p.D479Y	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		GAAACCGAAAGATGGAAATAT	0.383000													7	15					0.00198382	0.00202405	1	1	0
TEX15	56154	broad.mit.edu	37	8	30704417	30704417	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:30704417A>C	ENST00000256246.2	-	1	2191	c.2117T>G	c.(2116-2118)tTt>tGt	p.F706C		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	706								p.F706C(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAGGTCACAAATTCTTCACA	0.378000													40	44					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71727178	71727178	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:71727178G>A	ENST00000393695.3	-	15	1702	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Silent_p.F457F|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	457					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTTCTTCTTCGAAGTGGCCCC	0.587000			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	45					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101154329	101154329	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:101154329C>T	ENST00000428847.2	-	2	469	c.153G>A	c.(151-153)gcG>gcA	p.A51A		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	51					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GAGGAGAGTCCGCCCCATTTC	0.423000													46	49					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98236758	98236758	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:98236758G>T	ENST00000284049.3	-	6	765	c.616C>A	c.(616-618)Ctt>Att	p.L206I		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	206					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTTTGTCCAAGAATCTTCTTT	0.313000													27	17					6.36457e-07	6.85564e-07	1	1	0
KCNH2	3757	broad.mit.edu	37	7	150647290	150647290	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:150647290C>A	ENST00000392968.2	-	7	3196	c.2076G>T	c.(2074-2076)gaG>gaT	p.E692D	KCNH2_ENST00000330883.4_Missense_Mutation_p.E448D|KCNH2_ENST00000262186.5_Missense_Mutation_p.E788D|KCNH2_ENST00000430723.3_Missense_Mutation_p.E788D			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	788					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CCCGCAGGATCTCGATGGAGC	0.642000													30	43					1.30897e-18	1.64835e-18	1	1	0
GSPT2	23708	broad.mit.edu	37	X	51488447	51488447	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:51488447C>T	ENST00000340438.4	+	1	1967	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	575					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GACCCCGCTTCGTGAAACAAG	0.413000													36	1					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25047380	25047380	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:25047380A>C	ENST00000260600.5	-	16	3454	c.2603T>G	c.(2602-2604)tTc>tGc	p.F868C	ADCY3_ENST00000405392.1_Missense_Mutation_p.F455C	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	868					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CTTCCACAAGAAAAGTGTCCG	0.517000													22	51					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7866180	7866180	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:7866180T>C	ENST00000378789.3	-	7	1081	c.1030A>G	c.(1030-1032)Atg>Gtg	p.M344V		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	344	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTCAGAGCCATGGCCAACCGG	0.398000													20	33					0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50518416	50518416	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:50518416C>T	ENST00000311597.5	-	5	960	c.354G>A	c.(352-354)acG>acA	p.T118T	MLC1_ENST00000538737.1_Intron|MLC1_ENST00000450140.2_Intron|MLC1_ENST00000431262.2_Silent_p.T88T|MLC1_ENST00000395876.2_Silent_p.T118T|MLC1_ENST00000535444.1_Silent_p.T39T	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	118			T -> R (in MLC1).			basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		TCACAGCAAACGTGGAAACAA	0.408000													44	54					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2560608	2560608	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:2560608C>T	ENST00000358864.1	+	7	755	c.740C>T	c.(739-741)tCt>tTt	p.S247F		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	247						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CACTTTGGTTCTTCAGTGGCA	0.408000													33	46					0	0	1	0	0
PIH1D3	139212	broad.mit.edu	37	X	106456210	106456210	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:106456210C>T	ENST00000535523.1	+	3	442	c.105C>T	c.(103-105)ctC>ctT	p.L35L	PIH1D3_ENST00000372453.3_Silent_p.L35L|PIH1D3_ENST00000336387.4_Silent_p.L35L	NM_001169154.1	NP_001162625.1			PIH1 domain containing 3																		TGGAAGCCCTCTCTAAGCTAC	0.358000													9	33					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369837	56369837	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:56369837G>T	ENST00000301295.6	+	3	1500	c.1078G>T	c.(1078-1080)Gac>Tac	p.D360Y	NLRP4_ENST00000587891.1_Missense_Mutation_p.D285Y|NLRP4_ENST00000346986.5_Missense_Mutation_p.D360Y	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	360	NACHT.						ATP binding	p.D360N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAAGGAAAAGACCTGGCCCT	0.522000													38	39					2.75727e-19	3.49775e-19	1	1	0
FAT3	120114	broad.mit.edu	37	11	92538448	92538448	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:92538448T>G	ENST00000298047.6	+	10	9043	c.9026T>G	c.(9025-9027)tTt>tGt	p.F3009C	FAT3_ENST00000525166.1_Missense_Mutation_p.F2859C|FAT3_ENST00000409404.2_Missense_Mutation_p.F3009C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3009	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATGGGCTTTTTGTCACACAG	0.478000										TCGA Ovarian(4;0.039)			16	29					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990997	47990997	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:47990997G>T	ENST00000371741.4	-	2	1266	c.1100C>A	c.(1099-1101)tCt>tAt	p.S367Y		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	367					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCACCAGAAAGAGGCTGGGAT	0.507000													26	31					7.38237e-10	8.27974e-10	1	1	0
PDK1	5163	broad.mit.edu	37	2	173431637	173431637	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:173431637G>A	ENST00000282077.3	+	6	927	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	PDK1_ENST00000543905.1_Missense_Mutation_p.E173K|PDK1_ENST00000392571.2_Missense_Mutation_p.E269K|PDK1_ENST00000410055.1_Missense_Mutation_p.E249K|PDK1_ENST00000544863.1_Missense_Mutation_p.E94K			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1		Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TAACTCTCCCGAACTAGAACT	0.294000									Autosomal Dominant Polycystic Kidney Disease				12	25					0	0	1	0	0
CEP44	80817	broad.mit.edu	37	4	175231080	175231080	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:175231080C>T	ENST00000503780.1	+	8	1172	c.758C>T	c.(757-759)tCg>tTg	p.S253L	CEP44_ENST00000457424.2_Missense_Mutation_p.S253L|CEP44_ENST00000426172.1_Missense_Mutation_p.S253L|CEP44_ENST00000296519.4_Missense_Mutation_p.S253L	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	253						centrosome|midbody|spindle pole		p.S253L(1)		endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						AAACTGACTTCGATAGAGAAA	0.348000													21	18					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812687	2812687	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:2812687A>C	ENST00000301740.8	+	11	2707	c.2158A>C	c.(2158-2160)Aga>Cga	p.R720R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	720	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AACACCTCAAAGAAGAGGCAG	0.478000													51	51					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43907962	43907962	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:43907962G>A	ENST00000562955.1	+	56	7726	c.7726G>A	c.(7726-7728)Gag>Aag	p.E2576K	SZT2_ENST00000372442.1_Missense_Mutation_p.E1734K	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2633						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCAGCGCTTCGAGCCAGGAGG	0.607000													17	28					0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36564104	36564104	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:36564104C>T	ENST00000397799.1	-	4	1402	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	COL8A2_ENST00000481785.1_Missense_Mutation_p.R328Q|COL8A2_ENST00000303143.4_Missense_Mutation_p.R393Q			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	393	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGTCACCTCGAATGCCAGG	0.687000													8	5					0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104872897	104872897	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:104872897C>A	ENST00000393141.2	-	5	645	c.614G>T	c.(613-615)aGa>aTa	p.R205I	CASP5_ENST00000418434.1_Missense_Mutation_p.R50I|CASP5_ENST00000444749.2_Missense_Mutation_p.R134I|CASP5_ENST00000526056.1_Missense_Mutation_p.R205I|CASP5_ENST00000260315.3_Missense_Mutation_p.R192I|CASP5_ENST00000393139.2_Missense_Mutation_p.Q122H|CASP5_ENST00000531367.1_Missense_Mutation_p.R50I	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	192					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AGCCAGGCGTCTGCGGTCCTC	0.473000													50	47					6.7651e-33	9.35155e-33	1	1	0
SEC61A1	29927	broad.mit.edu	37	3	127778963	127778963	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:127778963C>A	ENST00000243253.3	+	6	555	c.371C>A	c.(370-372)aCt>aAt	p.T124N	SEC61A1_ENST00000464451.1_Missense_Mutation_p.T130N|SEC61A1_ENST00000424880.2_Missense_Mutation_p.T4N	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	124					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						ATGATCATTACTATCGGCCAG	0.403000													48	41					1.19451e-25	1.59338e-25	1	1	0
ERC2	26059	broad.mit.edu	37	3	56114959	56114959	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:56114959T>G	ENST00000288221.6	-	7	1782	c.1527A>C	c.(1525-1527)aaA>aaC	p.K509N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	509						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCTGTTTTGTTTTTTTATTGA	0.393000													15	16					0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538422	63538422	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:63538422G>T	ENST00000550760.3	+	4	1174	c.995G>T	c.(994-996)aGa>aTa	p.R332I		NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						CAACATAACAGAATTCATACT	0.378000													13	11					4.93089e-13	5.76424e-13	1	1	0
HRH2	3274	broad.mit.edu	37	5	175111183	175111183	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:175111183C>A	ENST00000231683.2	+	1	2720	c.947C>A	c.(946-948)tCt>tAt	p.S316Y	HRH2_ENST00000377291.2_Missense_Mutation_p.S316Y	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	316					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CACAAAACTTCTCTGAGGTCC	0.577000													59	62					1.80625e-27	2.4461e-27	1	1	0
DKK1	22943	broad.mit.edu	37	10	54076460	54076460	+	Nonsense_Mutation	SNP	G	G	T	rs11001564		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:54076460G>T	ENST00000373970.3	+	4	833	c.694G>T	c.(694-696)Gaa>Taa	p.E232*		NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	232	DKK-type Cys-2.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TCATGGACTAGAAATATTCCA	0.443000													29	45					0.000147802	0.000153352	1	1	0
PROC	5624	broad.mit.edu	37	2	128184779	128184779	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:128184779G>T	ENST00000453608.2	+	7	950	c.942G>T	c.(940-942)aaG>aaT	p.K314N	PROC_ENST00000409048.1_Missense_Mutation_p.K293N|PROC_ENST00000234071.3_Missense_Mutation_p.K259N|PROC_ENST00000422777.3_Missense_Mutation_p.K259N			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	259	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ATGAGTCCAAGAAGCTCCTTG	0.637000													35	50					7.16026e-08	7.81692e-08	1	1	0
PARD3	56288	broad.mit.edu	37	10	34688322	34688322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:34688322C>A	ENST00000374789.3	-	7	1151	c.826G>T	c.(826-828)Gaa>Taa	p.E276*	PARD3_ENST00000544292.1_Nonsense_Mutation_p.E6*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.E276*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.E232*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.E276*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.E276*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.E276*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.E276*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.E276*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.E232*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.E232*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.E276*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	276	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTGGGGACTTCTACGAGCTTT	0.428000													57	68					1.78197e-24	2.35988e-24	1	1	0
EIF3B	8662	broad.mit.edu	37	7	2411474	2411474	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:2411474C>T	ENST00000360876.4	+	11	1733	c.1677C>T	c.(1675-1677)gtC>gtT	p.V559V	EIF3B_ENST00000397011.2_Silent_p.V559V	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	559					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		TGGATGTGGTCGAGATGAAAG	0.448000													19	31					0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48525557	48525557	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:48525557C>T	ENST00000339841.2	+	6	823	c.645C>T	c.(643-645)gaC>gaT	p.D215D	ELSPBP1_ENST00000597519.1_Silent_p.D67D	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	215	Fibronectin type-II 4.		D -> N (in dbSNP:rs6509358).		single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		ACAACTACGACCAAGACCACA	0.458000													36	61					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33560069	33560069	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:33560069T>G	ENST00000228567.3	-	3	1028	c.732A>C	c.(730-732)gaA>gaC	p.E244D	SYT10_ENST00000535526.1_Missense_Mutation_p.E63D	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	244	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GAAGTTCATTTTCATAATCAT	0.373000													13	28					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30976040	30976040	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:30976040C>A	ENST00000295055.8	-	10	1142	c.966G>T	c.(964-966)caG>caT	p.Q322H	CAPN13_ENST00000534090.2_Missense_Mutation_p.Q322H	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	322	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.Q322H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CGATGAATTTCTGTTGGAAAT	0.448000													66	53					5.10652e-33	7.06619e-33	1	1	0
MUC16	94025	broad.mit.edu	37	19	9045730	9045730	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9045730G>T	ENST00000397910.4	-	5	36104	c.35901C>A	c.(35899-35901)atC>atA	p.I11967I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11969	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						TAGTTCTCAAGATAGTGGTTG	0.483000													30	60					8.4185e-14	9.95033e-14	1	1	0
HSF2	3298	broad.mit.edu	37	6	122752619	122752619	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:122752619G>A	ENST00000452194.1	+	11	1408	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	HSF2_ENST00000368455.4_Silent_p.Q425Q	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	425					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		ATGTAGTTCAGCCAGTTTCGG	0.294000													19	20					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185175883	185175883	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:185175883A>G	ENST00000367500.4	+	13	2125	c.1960A>G	c.(1960-1962)Aat>Gat	p.N654D	SWT1_ENST00000367501.3_Missense_Mutation_p.N654D	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	654										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CCTATACAAAAATCTCCGTAA	0.308000													17	19					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577574	179577574	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179577574C>A	ENST00000589042.1	-	94	27402	c.27178G>T	c.(27178-27180)Gta>Tta	p.V9060L	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V7816L|TTN_ENST00000591111.1_Missense_Mutation_p.V8743L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8743	Ig-like 73.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACCTGGTACTAGTTCACTG	0.418000													19	25					1.45105e-14	1.73353e-14	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140995625	140995625	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:140995625G>T	ENST00000371365.2	+	4	429	c.384G>T	c.(382-384)aaG>aaT	p.K128N	CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371372.1_Intron			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1764					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)	GCTTAGGGAAGAACTGCCCTC	0.507000													5	14					0.184627	0.184974	1	1	0
FCHSD1	89848	broad.mit.edu	37	5	141028579	141028579	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:141028579C>T	ENST00000435817.2	-	7	571	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	FCHSD1_ENST00000519800.1_Missense_Mutation_p.R172Q|FCHSD1_ENST00000522126.1_Missense_Mutation_p.R98Q|FCHSD1_ENST00000522783.1_Missense_Mutation_p.R172Q	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	174									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGTCACTTCGGTTTAGCCT	0.572000													54	58					0	0	1	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122434	153122434	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:153122434G>A	ENST00000368748.4	-	2	191	c.153C>T	c.(151-153)tgC>tgT	p.C51C		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	51					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATTTATCCTGGCATGGTGGAG	0.562000													42	47					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142280192	142280192	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:142280192T>G	ENST00000350721.4	-	5	1363	c.1242A>C	c.(1240-1242)caA>caC	p.Q414H	ATR_ENST00000383101.3_Missense_Mutation_p.Q414H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	414					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCTGTTGAGTTTGGCATTGAA	0.388000								Other conserved DNA damage response genes					33	39					0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97373496	97373496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:97373496G>A	ENST00000264963.4	-	7	881	c.859C>T	c.(859-861)Cga>Tga	p.R287*	LMAN2L_ENST00000426463.2_Nonsense_Mutation_p.R153*|LMAN2L_ENST00000534882.1_Nonsense_Mutation_p.R142*|LMAN2L_ENST00000377079.4_Nonsense_Mutation_p.R298*|LMAN2L_ENST00000537039.1_Nonsense_Mutation_p.R149*	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	287					ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						AACACATCTCGATGGAGCTTT	0.488000													45	55					0	0	1	0	0
TBC1D29	26083	broad.mit.edu	37	17	28886605	28886605	+	Translation_Start_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:28886605C>A	ENST00000580161.1	+	0	2370				TBC1D29_ENST00000579181.1_De_novo_Start_OutOfFrame|TBC1D29_ENST00000584297.1_De_novo_Start_OutOfFrame			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29							intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				GGCTCCACATCTTGGGGGAAG	0.627000													36	43					1.45844e-13	1.71658e-13	1	1	0
PGA5	5222	broad.mit.edu	37	11	61017153	61017153	+	Silent	SNP	C	C	T	rs139579497	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:61017153C>T	ENST00000312403.5	+	7	971	c.786C>T	c.(784-786)aaC>aaT	p.N262N	PGA5_ENST00000451616.2_Silent_p.N108N|PGA5_ENST00000541528.1_Silent_p.N2N|PGA4_ENST00000422676.2_Silent_p.N262N	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN	pepsinogen 5, group I (pepsinogen A)	262					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						TCACCATGAACGGAGAGACCA	0.587000													67	108					0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72723315	72723315	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:72723315C>A	ENST00000377182.4	+	3	954	c.337C>A	c.(337-339)Cgc>Agc	p.R113S	MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000414515.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	113	MAM 1.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AAGCTTTGATCGCTTGCTTTG	0.468000													20	32					3.51602e-12	4.06304e-12	1	1	0
C8orf4	56892	broad.mit.edu	37	8	40011362	40011362	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:40011362A>C	ENST00000315792.3	+	1	374	c.311A>C	c.(310-312)aAa>aCa	p.K104T		NM_020130.4	NP_064515	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	104					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		TATTCCATCAAAGTTCACTGA	0.423000													40	28					0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95848845	95848845	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:95848845G>T	ENST00000523731.1	+	7	980	c.847G>T	c.(847-849)Gaa>Taa	p.E283*	INTS8_ENST00000447247.1_Nonsense_Mutation_p.E283*	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	283					snRNA processing	integrator complex	protein binding	p.E283*(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TAGAACCAAAGAACTAATTGC	0.343000													20	25					1.33834e-09	1.4963e-09	1	1	0
HTR3C	170572	broad.mit.edu	37	3	183777366	183777366	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:183777366G>A	ENST00000318351.1	+	7	897	c.863G>A	c.(862-864)gGc>gAc	p.G288D		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	288						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTTCTGCTGGGCTACAACGTC	0.552000													75	93					0	0	1	0	0
GYG2	8908	broad.mit.edu	37	X	2799128	2799128	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:2799128C>T	ENST00000381163.3	+	12	1662	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	GYG2_ENST00000338623.5_Silent_p.I424I|GYG2_ENST00000542787.1_Silent_p.I389I|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Silent_p.I429I	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	460					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGATCTCCATCGAAGAGAAGG	0.542000													16	2					0	0	1	0	0
MTMR10	54893	broad.mit.edu	37	15	31269112	31269112	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:31269112T>C	ENST00000435680.1	-	3	265	c.168A>G	c.(166-168)gcA>gcG	p.A56A	MTMR10_ENST00000563714.1_5'UTR|MTMR10_ENST00000425768.1_Silent_p.A56A	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	56							phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TTGTGTCTGTTGCAATGCATT	0.343000													37	51					0	0	1	0	0
MYOZ3	91977	broad.mit.edu	37	5	150051985	150051985	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:150051985G>A	ENST00000297130.4	+	6	707	c.508G>A	c.(508-510)Gag>Aag	p.E170K	MYOZ3_ENST00000517768.1_Missense_Mutation_p.E170K|MYOZ3_ENST00000520112.1_Missense_Mutation_p.G86E	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	170						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCTTGGCAGGAGTTCGTCAG	0.647000													13	26					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151845580	151845580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:151845580G>A	ENST00000355193.2	-	53	13821	c.13603C>T	c.(13603-13605)Cga>Tga	p.R4535*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R4478*					lysine (K)-specific methyltransferase 2C																		TTGGTGCATCGAAATCTGTGG	0.438000													72	98					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142640660	142640660	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:142640660A>G	ENST00000355265.2	-	15	2090	c.1616T>C	c.(1615-1617)gTc>gCc	p.V539A		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	539					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GTAAGCATTGACGTCCCAAGG	0.567000													27	25					0	0	1	0	0
NASP	4678	broad.mit.edu	37	1	46080804	46080804	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:46080804T>C	ENST00000350030.3	+	10	1873	c.1786T>C	c.(1786-1788)Tac>Cac	p.Y596H	NASP_ENST00000402363.3_Missense_Mutation_p.Y598H|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000537798.1_Missense_Mutation_p.Y532H|NASP_ENST00000351223.3_Missense_Mutation_p.Y257H|NASP_ENST00000372052.4_Missense_Mutation_p.Y230H	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	596	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GGCTTATGGGTACAACTCTCA	0.517000													42	49					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121527807	121527807	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:121527807G>T	ENST00000310864.6	-	6	657	c.443C>A	c.(442-444)tCt>tAt	p.S148Y	IQCB1_ENST00000349820.6_Missense_Mutation_p.S148Y	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	148					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CCAGAAGAGAGAATCAGTCAC	0.323000													13	15					3.32936e-07	3.60079e-07	1	1	0
SPTBN1	6711	broad.mit.edu	37	2	54880910	54880910	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:54880910C>T	ENST00000333896.5	+	26	6088	c.5703C>T	c.(5701-5703)ttC>ttT	p.F1901F	SPTBN1_ENST00000356805.4_Silent_p.F1914F	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1914	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGGACAAGTTCCGCTTCTTCA	0.602000													22	29					0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005862	118005862	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:118005862C>T	ENST00000310754.4	-	1	874	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	230	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GAAAGTAATTCAACAAAATAA	0.393000													20	36					0	0	1	0	0
C9orf91	203197	broad.mit.edu	37	9	117386695	117386695	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:117386695G>A	ENST00000374049.4	+	3	609	c.172G>A	c.(172-174)Gac>Aac	p.D58N	C9orf91_ENST00000471206.1_3'UTR|C9orf91_ENST00000288502.4_Missense_Mutation_p.D58N	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	58						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						CATCTCCTTCGACCTGGGAGC	0.522000													8	4					0	0	1	0	0
MFAP3	4238	broad.mit.edu	37	5	153432575	153432575	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:153432575C>T	ENST00000436816.1	+	3	610	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	MFAP3_ENST00000322602.5_Missense_Mutation_p.R131C|MFAP3_ENST00000439768.2_5'UTR	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	131	Ig-like C2-type.					integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		CTCTCCAATTCGTGCCTCCTA	0.443000													47	58					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41626322	41626322	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:41626322C>T	ENST00000331105.2	+	4	477	c.405C>T	c.(403-405)ttC>ttT	p.F135F		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	135					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TACGGAATTTCGGGATGGGGA	0.527000													53	89					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585600	82585600	+	Nonsense_Mutation	SNP	G	G	A	rs143520608	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:82585600G>A	ENST00000333891.9	-	5	5006	c.4669C>T	c.(4669-4671)Cga>Tga	p.R1557*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.R1557*	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						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						ATTTGTTTTCGAATGAAGTCC	0.413000													32	39					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24105526	24105526	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:24105526G>T	ENST00000303531.7	+	7	881	c.729G>T	c.(727-729)gaG>gaT	p.E243D	PRKCB_ENST00000321728.7_Missense_Mutation_p.E243D|PRKCB_ENST00000482000.1_3'UTR	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	243	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TGTCAGTAGAGATTTGGGATT	0.413000													40	43					5.04308e-16	6.16569e-16	1	1	0
ANAPC1	64682	broad.mit.edu	37	2	112605390	112605390	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:112605390T>C	ENST00000341068.3	-	15	2475	c.1703A>G	c.(1702-1704)gAt>gGt	p.D568G		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	568					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ATAGAGAGAATCATGAAGTTT	0.363000													15	19					0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35226111	35226111	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:35226111G>A	ENST00000428726.2	+	10	1329	c.1206G>A	c.(1204-1206)caG>caA	p.Q402Q	CD44_ENST00000352818.4_Intron|CD44_ENST00000415148.2_Silent_p.Q359Q|CD44_ENST00000437706.2_Silent_p.Q402Q|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Silent_p.Q403Q|CD44_ENST00000449691.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	402	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	AGAAGGAACAGTGGTTTGGCA	0.448000													45	53					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24902304	24902304	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:24902304T>G	ENST00000347898.3	+	9	1401	c.779T>G	c.(778-780)aTt>aGt	p.I260S	SLC5A11_ENST00000539472.1_Missense_Mutation_p.I196S|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000424767.2_Missense_Mutation_p.I225S|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000568579.1_Missense_Mutation_p.I190S|SLC5A11_ENST00000565769.1_Missense_Mutation_p.I196S|SLC5A11_ENST00000567758.1_Missense_Mutation_p.I225S|SLC5A11_ENST00000545376.1_Missense_Mutation_p.I190S	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	260					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCCTTCCATATTTTCCGAGAT	0.577000													17	210					0	0	1	0	0
RBFOX2	23543	broad.mit.edu	37	22	36236260	36236260	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:36236260C>A	ENST00000405409.2	-	1	374	c.6G>T	c.(4-6)gaG>gaT	p.E2D	RBFOX2_ENST00000449924.2_Missense_Mutation_p.E2D|RBFOX2_ENST00000414461.2_Missense_Mutation_p.E2D|RBFOX2_ENST00000359369.4_Intron|RBFOX2_ENST00000438146.2_Intron|RBFOX2_ENST00000262829.7_Missense_Mutation_p.E2D|RBFOX2_ENST00000416721.2_Missense_Mutation_p.E2D	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	0					estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						TTTTCTTTTTCTCCATAAACC	0.458000													95	136					4.69036e-40	6.59296e-40	1	1	0
STXBP5L	9515	broad.mit.edu	37	3	120941851	120941851	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:120941851G>A	ENST00000273666.6	+	11	1229	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	STXBP5L_ENST00000471454.1_Splice_Site_p.E320K|STXBP5L_ENST00000492541.1_Splice_Site_p.E320K|STXBP5L_ENST00000472879.1_Splice_Site_p.E320K|STXBP5L_ENST00000497029.1_Splice_Site_p.E320K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	320					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)		CCTATGTAGCGAACCATTCAT	0.368000													26	53					0	0	1	0	0
CTXN3	613212	broad.mit.edu	37	5	126993382	126993382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:126993382C>T	ENST00000379445.3	+	3	720	c.169C>T	c.(169-171)Cga>Tga	p.R57*	CTC-548H10.2_ENST00000512352.1_RNA|CTXN3_ENST00000395322.3_Nonsense_Mutation_p.R57*	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	57						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		GGATCCATATCGAAGCATGCC	0.488000													26	42					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15870859	15870859	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:15870859C>A	ENST00000285670.2	-	8	1201	c.1027G>T	c.(1027-1029)Gat>Tat	p.D343Y	SAMSN1_ENST00000400566.1_Missense_Mutation_p.D275Y|SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Missense_Mutation_p.D107Y	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	275					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCTTTTATATCTTTTAAATCT	0.308000													19	16					5.03518e-11	5.75249e-11	1	1	0
C8orf31	286122	broad.mit.edu	37	8	144126224	144126224	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:144126224G>T	ENST00000395172.1	+	4	697	c.345G>T	c.(343-345)gaG>gaT	p.E115D	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	115										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGAGCTGGGAGAGAGGGCAAG	0.622000													9	17					0.000274275	0.000283032	1	1	0
AGL	178	broad.mit.edu	37	1	100342136	100342136	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:100342136G>A	ENST00000294724.4	+	11	1884	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	AGL_ENST00000370163.3_Missense_Mutation_p.R469Q|AGL_ENST00000361302.3_Missense_Mutation_p.R453Q|AGL_ENST00000361522.4_Missense_Mutation_p.R452Q|AGL_ENST00000370165.3_Missense_Mutation_p.R469Q|AGL_ENST00000370161.2_Missense_Mutation_p.R453Q|AGL_ENST00000361915.3_Missense_Mutation_p.R469Q|AGL_ENST00000477753.1_3'UTR	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	469					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GATCCTCTTCGAAACTTTGCT	0.383000													33	29					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57797911	57797911	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:57797911A>C	ENST00000309042.7	+	4	3201	c.2887A>C	c.(2887-2889)Aat>Cat	p.N963H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	963					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	p.N963H(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CACTGGTATAAATTCAACAGT	0.418000													35	35					0	0	1	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26238551	26238551	+	RNA	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:26238551A>G	ENST00000519902.1	-	0	1397																											TATGTGTATGAAGTCTTTTGC	0.333000													24	29					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169810792	169810792	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:169810792A>C	ENST00000274629.4	-	3	639	c.197T>G	c.(196-198)cTg>cGg	p.L66R	KCNMB1_ENST00000521859.1_Missense_Mutation_p.L66R|KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	66					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		CTTGCCCTTCAGCTCCTCCTG	0.592000													21	35					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18280180	18280180	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:18280180G>A	ENST00000377369.2	+	8	1643	c.1370G>A	c.(1369-1371)gGa>gAa	p.G457E	SLC39A12_ENST00000377374.4_Missense_Mutation_p.G457E|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G457E|SLC39A12_ENST00000539911.1_Missense_Mutation_p.G323E	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	457					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGCATCCATGGATTTTTCTTG	0.328000													22	38					0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3136548	3136548	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:3136548G>T	ENST00000262958.3	+	1	358	c.100G>T	c.(100-102)Gag>Tag	p.E34*		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	34					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GATCCTCTTGGAGCAGAAGAA	0.687000													3	2					1	1	1	1	0
GPC6	10082	broad.mit.edu	37	13	95034697	95034697	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:95034697C>T	ENST00000377047.4	+	7	1797	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	394						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AATTGAAGCTCTCTAAAAAGG	0.488000													33	44					0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131321146	131321146	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:131321146C>T	ENST00000379264.2	-	9	978	c.870G>A	c.(868-870)ccG>ccA	p.P290P	ACSL6_ENST00000379246.1_Silent_p.P276P|ACSL6_ENST00000357096.1_Silent_p.P230P|ACSL6_ENST00000379272.2_Silent_p.P280P|ACSL6_ENST00000543479.1_Silent_p.P265P|ACSL6_ENST00000379249.3_Silent_p.P265P|ACSL6_ENST00000379244.1_Silent_p.P265P|ACSL6_ENST00000379255.1_Silent_p.P230P|ACSL6_ENST00000296869.4_Silent_p.P290P|ACSL6_ENST00000379240.1_Silent_p.P265P|ACSL6_ENST00000544770.1_Silent_p.P174P|ACSL6_ENST00000431707.1_Silent_p.P245P	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	265					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCAGGCTGCGGGGGCTGCA	0.622000													17	26					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101490420	101490420	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:101490420C>T	ENST00000392979.3	+	18	2101	c.1740C>T	c.(1738-1740)ctC>ctT	p.L580L	ANO4_ENST00000392977.3_Silent_p.L615L|ANO4_ENST00000550015.1_Silent_p.L135L|ANO4_ENST00000299222.9_Silent_p.L135L	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	615						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CATTCTTCCTCGGAAGGTAAG	0.502000										HNSCC(74;0.22)			38	43					0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24709367	24709367	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:24709367A>C	ENST00000314328.9	+	4	525	c.240A>C	c.(238-240)ccA>ccC	p.P80P	SPECC1L-ADORA2A_ENST00000358654.2_Silent_p.P80P|SPECC1L_ENST00000437398.1_Silent_p.P80P|SPECC1L_ENST00000416735.1_3'UTR|SPECC1L_ENST00000541492.1_Silent_p.P80P	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	80					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GCACCTGCCCATCTGCAGCAC	0.498000													26	30					0	0	1	0	0
CCDC78	124093	broad.mit.edu	37	16	775282	775282	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:775282C>A	ENST00000293889.6	-	5	552	c.447G>T	c.(445-447)aaG>aaT	p.K149N		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	149										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				TCATGGTGTTCTTGGGCTGCA	0.632000													65	55					6.8682e-38	9.61115e-38	1	1	0
ATF4P4	100127952	broad.mit.edu	37	11	113660296	113660296	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:113660296C>T	ENST00000393544.2	+	0	344																											AGCTAGGCAACGAGTCCAACT	0.612000													10	13					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7043400	7043400	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:7043400A>G	ENST00000389658.3	-	8	1074	c.981T>C	c.(979-981)tgT>tgC	p.C327C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	327	Laminin EGF-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTGACAATTACATGCTAGGA	0.338000													32	47					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139700978	139700978	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:139700978A>C	ENST00000338005.6	+	11	1167	c.1132A>C	c.(1132-1134)Atg>Ctg	p.M378L	KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	378										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		TGAGAAGAAAATGACAGACAT	0.577000													19	29					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58025101	58025101	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:58025101G>A	ENST00000341156.4	-	3	849	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	B4GALNT1_ENST00000449184.3_Missense_Mutation_p.L89F|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.L89F|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.L89F|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000550943.1_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	89					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGGAGGGGGAGGCCCCCCCCA	0.587000													68	85					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39086303	39086303	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:39086303G>A	ENST00000209718.3	-	4	949	c.525C>T	c.(523-525)gtC>gtT	p.V175V	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Silent_p.V38V	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	175	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGAGGCCCTCGACTTCAATTT	0.448000													38	41					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99201646	99201646	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:99201646G>A	ENST00000550693.2	-	5	865	c.612C>T	c.(610-612)ttC>ttT	p.F204F	ANKS1B_ENST00000549025.2_Silent_p.F112F|ANKS1B_ENST00000332712.7_Silent_p.F204F|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000333732.7_Silent_p.F44F|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000341752.7_Intron|ANKS1B_ENST00000546960.1_Intron|ANKS1B_ENST00000549493.2_Silent_p.F264F|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000547776.2_Intron	NM_001204069.1|NM_001204070.1	NP_001190998.1|NP_001190999.1	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	992						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGATCGCTGAGAAAGGAAATC	0.383000													15	19					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832853	61832853	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:61832853G>A	ENST00000280772.2	-	37	7977	c.7786C>T	c.(7786-7788)Cgt>Tgt	p.R2596C	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTTTGTCACGAAAAAACTGT	0.418000													44	50					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89060954	89060954	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:89060954G>A	ENST00000237612.3	-	2	739	c.194C>T	c.(193-195)tCg>tTg	p.S65L	ABCG2_ENST00000515655.1_Missense_Mutation_p.S65L	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	65	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CTTGATATTCGATAATATTTC	0.353000													9	17					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45645449	45645449	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:45645449A>C	ENST00000267430.5	+	14	3577	c.3492A>C	c.(3490-3492)aaA>aaC	p.K1164N	FANCM_ENST00000542564.2_Missense_Mutation_p.K1138N	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1164					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGTCAGACAAAACTGCTATTA	0.378000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				48	73					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12156003	12156003	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:12156003G>T	ENST00000602107.1	-	5	353	c.354C>A	c.(352-354)ctC>ctA	p.L118L	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Silent_p.L71L|CTD-2006C1.2_ENST00000476474.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TACTTTCAGAGAGTCTCTCCC	0.353000													11	4					1.08611e-07	1.18329e-07	1	1	0
ATP8B4	79895	broad.mit.edu	37	15	50303051	50303051	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:50303051T>G	ENST00000284509.6	-	7	567	c.426A>C	c.(424-426)caA>caC	p.Q142H	ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q142H|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	142					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CAGCAACAAATTGGTTATTTT	0.244000													7	8					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34874018	34874018	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:34874018C>T	ENST00000360581.1	+	6	831	c.703C>T	c.(703-705)Cga>Tga	p.R235*	NPSR1_ENST00000381542.1_Nonsense_Mutation_p.R169*|NPSR1_ENST00000359791.1_Nonsense_Mutation_p.R235*|NPSR1_ENST00000381539.3_Nonsense_Mutation_p.R235*|NPSR1_ENST00000531252.1_Nonsense_Mutation_p.R224*	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	235						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CATTGTGATCCGAACTATTTG	0.438000													40	46					0	0	1	0	0
MAS1	4142	broad.mit.edu	37	6	160328830	160328830	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:160328830C>T	ENST00000252660.4	+	1	857	c.843C>T	c.(841-843)ttC>ttT	p.F281F		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	281					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TCATTTACTTCTTTGTGGGAA	0.453000													40	57					0	0	1	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374183	95374183	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:95374183G>A	ENST00000494840.1	-	0	1678					NR_077228.1																						TTCTAACGGTGGCATCATCTC	0.423000													18	24					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35247748	35247748	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:35247748G>A	ENST00000381318.3	+	34	4552	c.4264G>A	c.(4264-4266)Gaa>Aaa	p.E1422K	ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1417K|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1422K|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1422	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CCAGGTGAACGAAGGGGTGCG	0.607000													64	73					0	0	1	0	0
FCN3	8547	broad.mit.edu	37	1	27699748	27699748	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:27699748C>A	ENST00000270879.4	-	5	277	c.272G>T	c.(271-273)aGa>aTa	p.R91I	FCN3_ENST00000354982.2_Missense_Mutation_p.R80I	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	91	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCGGCAGTTTCTGGGGCCTGG	0.637000													40	52					5.04308e-16	6.16569e-16	1	1	0
USP34	9736	broad.mit.edu	37	2	61515822	61515822	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:61515822C>T	ENST00000398571.2	-	34	4815	c.4739G>A	c.(4738-4740)cGa>cAa	p.R1580Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1580					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTCTGTTAATCGTGGTATATG	0.368000													41	38					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131340	45131340	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:45131340T>G	ENST00000457685.2	-	6	1847	c.524A>C	c.(523-525)aAa>aCa	p.K175T	ZNF334_ENST00000593880.1_Missense_Mutation_p.K236T|ZNF334_ENST00000347606.4_Missense_Mutation_p.K213T			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTTCCCACATTTATTATAGTC	0.353000													33	45					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82921451	82921451	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:82921451G>A	ENST00000393389.3	+	4	1372	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	ANKRD42_ENST00000393392.2_Missense_Mutation_p.R119Q|ANKRD42_ENST00000260047.6_Missense_Mutation_p.R147Q|ANKRD42_ENST00000531895.1_Missense_Mutation_p.R147Q|ANKRD42_ENST00000528722.1_Missense_Mutation_p.R34Q|ANKRD42_ENST00000526731.1_Missense_Mutation_p.R147Q|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000533342.1_Missense_Mutation_p.R147Q			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	119										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ATAATGCTCCGAAGTGGAGTG	0.408000													51	58					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47345374	47345374	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:47345374C>A	ENST00000342922.4	+	28	4710	c.4353C>A	c.(4351-4353)ttC>ttA	p.F1451L	MADD_ENST00000311027.5_Missense_Mutation_p.F1510L|MADD_ENST00000395336.3_Missense_Mutation_p.F1510L|MADD_ENST00000402799.1_Missense_Mutation_p.F1408L|MADD_ENST00000406482.1_Missense_Mutation_p.F1408L|MADD_ENST00000405573.2_Missense_Mutation_p.F320L|MADD_ENST00000402192.2_Missense_Mutation_p.F1450L|MADD_ENST00000395344.3_Missense_Mutation_p.F1404L|MADD_ENST00000407859.3_Missense_Mutation_p.F1428L|MADD_ENST00000349238.3_Missense_Mutation_p.F1471L	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1510					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TCAACAAGTTCTATACTAAAA	0.448000													7	52					0.00448238	0.00456106	1	1	0
TSTD2	158427	broad.mit.edu	37	9	100367123	100367123	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:100367123G>A	ENST00000341170.4	-	9	1520	c.1138C>T	c.(1138-1140)Ctc>Ttc	p.L380F	TSTD2_ENST00000354801.2_Missense_Mutation_p.L120F	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	380	Rhodanese.									large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						CCACCCTTGAGCTGGAACACC	0.478000													34	29					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120150420	120150420	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:120150420C>T	ENST00000392521.2	-	36	4715	c.4660G>A	c.(4660-4662)Gaa>Aaa	p.E1554K	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.E1512K	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1512	PH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTTGCGAGTTCGGAAGCACCA	0.602000													42	45					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68936696	68936696	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:68936696T>G	ENST00000545309.1	-	7	1093	c.1094A>C	c.(1093-1095)aAa>aCa	p.K365T	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron			Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	0					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ctccaacaatttgatttttac	0.398000													4	7					0	0	1	0	0
LPCAT2	54947	broad.mit.edu	37	16	55562424	55562424	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:55562424C>A	ENST00000262134.5	+	3	631	c.447C>A	c.(445-447)ttC>ttA	p.F149L		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	149					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						ATTCAACATTCTTTGATGGAA	0.408000													47	57					2.13384e-23	2.80497e-23	1	1	0
ZMPSTE24	10269	broad.mit.edu	37	1	40726608	40726608	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:40726608A>T	ENST00000372759.3	+	2	386	c.221A>T	c.(220-222)aAa>aTa	p.K74I	ZMPSTE24_ENST00000479131.1_3'UTR	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	74						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	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;6.3e-18)			CAACTGGATAAAAGCACTTTC	0.398000													38	70					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79980377	79980377	+	Splice_Site	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:79980377T>C	ENST00000360280.3	+	60	8473	c.8213T>C	c.(8212-8214)gTt>gCt	p.V2738A	VPS13A_ENST00000376636.3_Splice_Site_p.V2699A|VPS13A_ENST00000376634.4_Splice_Site_p.V2738A|VPS13A_ENST00000357409.5_Splice_Site_p.V2738A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2738					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTTTATAGGTTGAGCTTTTT	0.313000													17	18					0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53345135	53345135	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:53345135C>A	ENST00000595646.1	-	4	532	c.412G>T	c.(412-414)Gat>Tat	p.D138Y	ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.D85Y|ZNF468_ENST00000396409.4_Missense_Mutation_p.D85Y			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CCAAGCTGATCTTTAATACGC	0.423000													117	136					3.35115e-56	4.79262e-56	1	1	0
SYNJ1	8867	broad.mit.edu	37	21	34045731	34045731	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:34045731G>A	ENST00000382499.2	-	14	1761	c.1762C>T	c.(1762-1764)Cgc>Tgc	p.R588C	SYNJ1_ENST00000357345.3_Missense_Mutation_p.R549C|SYNJ1_ENST00000433931.2_Missense_Mutation_p.R588C|SYNJ1_ENST00000382491.3_Missense_Mutation_p.R544C|SYNJ1_ENST00000322229.7_Missense_Mutation_p.R549C	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	549	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.R549C(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCTATGCTGCGAAATTGCTTC	0.403000													27	32					0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126777584	126777584	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:126777584C>T	ENST00000373615.4	+	3	1246	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	169						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GCTTGCACTTCGAGGCGCTGC	0.662000													59	76					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23893859	23893859	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:23893859G>T	ENST00000546136.1	-	4	646	c.644C>A	c.(643-645)gCc>gAc	p.A215D	SOX5_ENST00000451604.2_Missense_Mutation_p.A228D|SOX5_ENST00000545921.1_Missense_Mutation_p.A218D|SOX5_ENST00000541847.1_Missense_Mutation_p.A218D|SOX5_ENST00000309359.1_Missense_Mutation_p.A215D|SOX5_ENST00000541536.1_Missense_Mutation_p.A215D|SOX5_ENST00000381381.2_Missense_Mutation_p.A215D|SOX5_ENST00000537393.1_Missense_Mutation_p.A193D			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	228					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AATCTGAGAGGCAGCTAGTTT	0.488000													32	37					3.86903e-22	5.0338e-22	1	1	0
UTRN	7402	broad.mit.edu	37	6	144835069	144835069	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:144835069T>G	ENST00000367545.3	+	35	4969	c.4969T>G	c.(4969-4971)Ttt>Gtt	p.F1657V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1657	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCTAGAAATATTTGATGGGAA	0.313000													24	20					0	0	1	0	0
SKP1	6500	broad.mit.edu	37	5	133496722	133496722	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:133496722C>A	ENST00000353411.6	-	4	454	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	SKP1_ENST00000517625.1_Nonsense_Mutation_p.E91*|SKP1_ENST00000522552.1_Nonsense_Mutation_p.E91*|SKP1_ENST00000521216.1_Nonsense_Mutation_p.E91*|SKP1_ENST00000522855.1_Nonsense_Mutation_p.E91*	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCAGGAATTCTTGGTCCCAA	0.413000													14	30					4.3838e-07	4.73159e-07	1	1	0
PLOD2	5352	broad.mit.edu	37	3	145828192	145828192	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:145828192T>G	ENST00000282903.5	-	4	559	c.382A>C	c.(382-384)Aaa>Caa	p.K128Q	PLOD2_ENST00000494950.1_Missense_Mutation_p.K73Q|PLOD2_ENST00000360060.3_Missense_Mutation_p.K128Q	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	128					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTTTGGAATTTTTTTAGAACT	0.378000													22	37					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320994	52320994	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:52320994G>T	ENST00000356297.4	-	17	3290	c.3190C>A	c.(3190-3192)Ctt>Att	p.L1064I	PXDNL_ENST00000543296.1_Missense_Mutation_p.L1064I	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1064					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGTCGGTAAAGAATAGGATTG	0.463000													15	22					1.5739e-10	1.78284e-10	1	1	0
DOCK10	55619	broad.mit.edu	37	2	225739029	225739029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:225739029C>T	ENST00000409592.3	-	10	1150	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	DOCK10_ENST00000258390.7_Missense_Mutation_p.R352Q			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	352							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTCCATGTTTCGAGTTGTTTT	0.378000													17	1					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11117668	11117668	+	Missense_Mutation	SNP	G	G	A	rs143679932		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:11117668G>A	ENST00000304623.8	-	13	2360	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L	CTNND2_ENST00000359640.2_Missense_Mutation_p.S724L|CTNND2_ENST00000458100.2_Missense_Mutation_p.S291L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.S633L|CTNND2_ENST00000503622.1_Missense_Mutation_p.S387L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	724					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCTCCGGCCGAACTAACATT	0.522000													27	29					0	0	1	0	0
WIPI1	55062	broad.mit.edu	37	17	66425047	66425047	+	Silent	SNP	C	C	T	rs148269208		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:66425047C>T	ENST00000262139.5	-	10	995	c.996G>A	c.(994-996)gcG>gcA	p.A332A	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.A250A	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	332					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						CACTGGATGACGCAACTAGCA	0.458000													6	16					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10426678	10426678	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:10426678C>A	ENST00000245503.5	-	38	5908	c.5524G>T	c.(5524-5526)Gct>Tct	p.A1842S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A1842S|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1842					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTTTGACAGCCTCAGCATTA	0.468000													38	68					4.67007e-22	6.07302e-22	1	1	0
NUMA1	4926	broad.mit.edu	37	11	71734187	71734187	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:71734187C>T	ENST00000393695.3	-	6	546	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	NUMA1_ENST00000358965.6_Missense_Mutation_p.R72Q|NUMA1_ENST00000351960.6_Missense_Mutation_p.R72Q	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	72					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGGATGTTTTCGATTTTCTGC	0.488000			T	RARA	APL								37	55					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112575157	112575157	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:112575157C>T	ENST00000368638.4	-	2	466	c.196G>A	c.(196-198)Gta>Ata	p.V66I	RP11-506B6.6_ENST00000590293.1_RNA|LAMA4_ENST00000453937.2_Missense_Mutation_p.V66I|RP11-506B6.6_ENST00000590673.1_RNA|LAMA4_ENST00000389463.4_Splice_Site|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000433684.3_RNA|LAMA4_ENST00000424408.2_Splice_Site|LAMA4_ENST00000522006.1_Splice_Site|LAMA4_ENST00000431543.2_Splice_Site|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000588837.1_RNA|RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000590584.1_RNA|LAMA4_ENST00000230538.7_Splice_Site			Q16363	LAMA4_HUMAN	laminin, alpha 4	0					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGACACTGTACCTCGGCCGCA	0.667000													5	10					0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52537164	52537164	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:52537164C>A	ENST00000594154.1	-	5	1980	c.1768G>T	c.(1768-1770)Gtt>Ttt	p.V590F	ZNF432_ENST00000221315.5_Missense_Mutation_p.V590F			O94892	ZN432_HUMAN	zinc finger protein 432	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCAGTATGAACTTGCTTATGT	0.378000													60	51					6.176e-18	7.71168e-18	1	1	0
RYR3	6263	broad.mit.edu	37	15	34137129	34137129	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:34137129G>A	ENST00000389232.4	+	93	13433	c.13363G>A	c.(13363-13365)Gag>Aag	p.E4455K	RYR3_ENST00000415757.3_Missense_Mutation_p.E4450K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4455					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTTAATGACGAGGAAGAGGA	0.463000													30	28					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874524	88874524	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:88874524C>T	ENST00000303236.3	-	13	2778	c.2477G>A	c.(2476-2478)cGa>cAa	p.R826Q	EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.R675Q|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	826	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AATATGCAATCGATTAGTTTT	0.398000													53	50					0	0	1	0	0
APTX	54840	broad.mit.edu	37	9	32984659	32984659	+	Missense_Mutation	SNP	C	C	T	rs142133683		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:32984659C>T	ENST00000379817.2	-	5	936	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	APTX_ENST00000309615.3_Missense_Mutation_p.R261Q|APTX_ENST00000468275.1_Missense_Mutation_p.R247Q|APTX_ENST00000436040.2_Intron|APTX_ENST00000379825.2_Missense_Mutation_p.R261Q|APTX_ENST00000379813.3_Missense_Mutation_p.R247Q|APTX_ENST00000476858.1_Missense_Mutation_p.R207Q|APTX_ENST00000379819.1_Missense_Mutation_p.R261Q|APTX_ENST00000463596.1_Missense_Mutation_p.R247Q|APTX_ENST00000397172.3_Missense_Mutation_p.R189Q			Q7Z2E3	APTX_HUMAN	aprataxin	261	HIT.				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GTAGCCCAATCGGAAGCGGAG	0.542000								Editing and processing nucleases					49	59					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121037303	121037303	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:121037303C>T	ENST00000392793.1	+	18	5671	c.5400C>T	c.(5398-5400)atC>atT	p.I1800I	TECTA_ENST00000264037.2_Silent_p.I1800I			O75443	TECTA_HUMAN	tectorin alpha	1800					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATGACATTATCGATGCAGAGG	0.493000													4	85					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69687995	69687995	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:69687995G>A	ENST00000265403.7	+	3	901	c.874G>A	c.(874-876)Gag>Aag	p.E292K	UGT2B10_ENST00000458688.2_Missense_Mutation_p.E208K	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	292					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ACCGGAAATGGAGGAGTTTGT	0.398000													89	89					0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40756528	40756528	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:40756528G>T	ENST00000372759.3	+	9	1227	c.1062G>T	c.(1060-1062)atG>atT	p.M354I		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	354						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	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;6.3e-18)			CTTTCTAGATGAATTCTTTCC	0.358000													16	29					4.7546e-09	5.27048e-09	1	1	0
PLA2G4C	8605	broad.mit.edu	37	19	48556295	48556295	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:48556295T>G	ENST00000354276.3	-	16	1866	c.1539A>C	c.(1537-1539)gaA>gaC	p.E513D	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.E513D|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.E513D|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.E523D	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	513	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCTTCTTGTTTTCCCTGACAT	0.478000													42	47					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78868281	78868281	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:78868281C>T	ENST00000286627.5	-	9	2133	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	KCNMA1_ENST00000406533.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000286628.8_Missense_Mutation_p.R394H|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R394H|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R394H	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	394					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GTATTTCTTGCGGTTTCCTAT	0.468000													42	58					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22259538	22259538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:22259538C>A	ENST00000344041.6	-	9	796	c.484G>T	c.(484-486)Gaa>Taa	p.E162*	RAPGEF5_ENST00000405243.1_Nonsense_Mutation_p.E315*|RAPGEF5_ENST00000475788.1_5'UTR	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TGATAGTTTTCTTTTGCCAGC	0.443000													18	31					5.03518e-11	5.75249e-11	1	1	0
AFF3	3899	broad.mit.edu	37	2	100199428	100199428	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:100199428C>A	ENST00000409236.2	-	15	2737	c.2625G>T	c.(2623-2625)atG>atT	p.M875I	AFF3_ENST00000317233.4_Missense_Mutation_p.M875I|AFF3_ENST00000409579.1_Missense_Mutation_p.M900I|AFF3_ENST00000356421.2_Missense_Mutation_p.M900I			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCGACCGAAGCATTTTTTCAT	0.398000													22	33					1.50039e-11	1.7204e-11	1	1	0
CALD1	800	broad.mit.edu	37	7	134625945	134625945	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:134625945G>A	ENST00000361388.2	+	7	1268	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	CALD1_ENST00000424922.1_Missense_Mutation_p.E236K|CALD1_ENST00000361675.2_Missense_Mutation_p.E497K|CALD1_ENST00000422748.1_Missense_Mutation_p.E268K|CALD1_ENST00000417172.1_Missense_Mutation_p.E242K|CALD1_ENST00000543443.1_Missense_Mutation_p.E247K|CALD1_ENST00000495522.1_Missense_Mutation_p.E262K|CALD1_ENST00000393118.2_Missense_Mutation_p.E262K|CALD1_ENST00000361901.2_Missense_Mutation_p.E242K	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	497					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GCAGAATGGAGAATTCATGAC	0.333000													33	29					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100720403	100720403	+	Missense_Mutation	SNP	C	C	T	rs147018741		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:100720403C>T	ENST00000360820.2	+	12	1950	c.1513C>T	c.(1513-1515)Cgt>Tgt	p.R505C		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	505					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TTAATAGGTTCGTGTAAATTC	0.274000													19	23					0	0	1	0	0
KLC3	147700	broad.mit.edu	37	19	45853638	45853638	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:45853638G>T	ENST00000470402.1	+	8	1325	c.1225G>T	c.(1225-1227)Gaa>Taa	p.E409*	ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000585434.1_Nonsense_Mutation_p.E394*|KLC3_ENST00000391946.2_Nonsense_Mutation_p.E395*			Q6P597	KLC3_HUMAN	kinesin light chain 3	395						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TCAACAAGCGGAAGAGCTGTA	0.557000													26	47					2.44723e-14	2.91644e-14	1	1	0
PTH2R	5746	broad.mit.edu	37	2	209324642	209324642	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:209324642G>T	ENST00000272847.2	+	9	1150	c.937G>T	c.(937-939)Gac>Tac	p.D313Y	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	313						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)		TAGTGCTGGAGACATCAAGTG	0.348000													48	14					1.53122e-18	1.92731e-18	1	1	0
INSL5	10022	broad.mit.edu	37	1	67263816	67263816	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:67263816T>C	ENST00000304526.2	-	2	322	c.288A>G	c.(286-288)ggA>ggG	p.G96G		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	96						extracellular region	hormone activity			breast(2)|endometrium(1)|lung(5)	8						TGGGCATCTGTCCACCCCAAA	0.478000													32	53					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117047051	117047051	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:117047051C>T	ENST00000356083.3	+	41	4372	c.3981C>T	c.(3979-3981)ggC>ggT	p.G1327G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1327	Collagen-like 12.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GACCAAAAGGCGAAAAGGTGG	0.567000													43	63					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58478154	58478154	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:58478154G>T	ENST00000344743.3	-	5	538	c.397C>A	c.(397-399)Ctc>Atc	p.L133I	GLYAT_ENST00000278400.3_Missense_Mutation_p.L133I|GLYAT_ENST00000529732.1_Missense_Mutation_p.L133I	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	133					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GCCATATAGAGAATGCGTTGT	0.428000													46	60					6.48837e-15	7.78283e-15	1	1	0
FAM20A	54757	broad.mit.edu	37	17	66537089	66537089	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:66537089T>C	ENST00000592554.1	-	8	1842	c.1120A>G	c.(1120-1122)Aat>Gat	p.N374D	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	374						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					TAAAGGGGATTGACCTCCCAC	0.577000													4	10					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25453103	25453103	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:25453103C>T	ENST00000424208.1	+	0	2384				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						TTTCTGTCAGCCAGGTCCCCA	0.597000													20	41					0	0	1	0	0
TFCP2	7024	broad.mit.edu	37	12	51497497	51497497	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:51497497C>T	ENST00000307660.4	-	9	1583	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	TFCP2_ENST00000549867.1_Intron|TFCP2_ENST00000548115.1_Missense_Mutation_p.R288Q|TFCP2_ENST00000257915.5_Missense_Mutation_p.R339Q	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	339	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R339Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AAAACGATTTCGATGCAACCA	0.373000													32	50					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377914	44377914	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:44377914C>T	ENST00000587539.1	-	3	451	c.452G>A	c.(451-453)aGa>aAa	p.R151K	ZNF404_ENST00000324394.6_Missense_Mutation_p.R149K	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AGTATGGTCTCTCAGATGTTC	0.343000													41	55					0	0	1	0	0
TRAV19	28664	broad.mit.edu	37	14	22475806	22475806	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:22475806G>T	ENST00000390447.3	+	0	56																											GCAAGGTGGAGAATTAAGATC	0.463000													7	9					2.0095e-06	2.14548e-06	1	1	0
KIF13B	23303	broad.mit.edu	37	8	28989961	28989961	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:28989961C>T	ENST00000524189.1	-	23	2844	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	936					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ATAAAGTCTTCGGTGATGTTA	0.403000													14	15					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211175	38211175	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:38211175C>A	ENST00000379705.3	-	11	3656	c.2799G>T	c.(2797-2799)gaG>gaT	p.E933D	TRPC4_ENST00000379673.2_Missense_Mutation_p.E784D|TRPC4_ENST00000355779.2_Missense_Mutation_p.E792D|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379681.3_Missense_Mutation_p.E938D|TRPC4_ENST00000358477.2_Missense_Mutation_p.E849D|TRPC4_ENST00000447043.1_Missense_Mutation_p.E792D|TRPC4_ENST00000379679.1_Missense_Mutation_p.E760D|TRPC4_ENST00000338947.5_Missense_Mutation_p.E760D			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	933	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCACCACCTTCTCTGACTTGA	0.453000													48	65					1.00776e-21	1.30604e-21	1	1	0
TRHDE	29953	broad.mit.edu	37	12	72667177	72667177	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:72667177G>A	ENST00000261180.4	+	1	715	c.619G>A	c.(619-621)Ggt>Agt	p.G207S	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	207					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCCTGTAGCCGGTTTTTTCCT	0.587000													37	56					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416107	86416107	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:86416107C>T	ENST00000361669.2	+	3	2098	c.999C>T	c.(997-999)ttC>ttT	p.F333F	GRM3_ENST00000439827.1_Silent_p.F333F|GRM3_ENST00000394720.2_Silent_p.F331F|GRM3_ENST00000536043.1_Silent_p.F205F|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	333					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCCGCCAGTTCGACCGCTACT	0.627000													21	18					0	0	1	0	0
FYN	2534	broad.mit.edu	37	6	112041046	112041046	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:112041046G>A	ENST00000354650.3	-	4	815	c.209C>T	c.(208-210)tCg>tTg	p.S70L	FYN_ENST00000368682.3_Missense_Mutation_p.S70L|FYN_ENST00000229470.5_Missense_Mutation_p.S70L|FYN_ENST00000356013.2_Missense_Mutation_p.S70L|FYN_ENST00000368678.4_Missense_Mutation_p.S70L|FYN_ENST00000538466.1_Missense_Mutation_p.S70L|FYN_ENST00000368667.2_Missense_Mutation_p.S70L|FYN_ENST00000229471.4_Missense_Mutation_p.S70L	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	70					axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CGTATGAGACGAAGAGTTCAC	0.562000													35	39					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37955777	37955777	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:37955777T>G	ENST00000436072.2	-	1	740	c.363A>C	c.(361-363)gaA>gaC	p.E121D	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	121	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGGCCAGGCTTTCGGGCCAGC	0.632000													27	39					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35094351	35094351	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:35094351G>A	ENST00000378617.3	-	3	911	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	PIGO_ENST00000361778.2_Missense_Mutation_p.R173C|PIGO_ENST00000298004.5_Missense_Mutation_p.R173C|PIGO_ENST00000341666.3_Missense_Mutation_p.R173C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	173					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAGACTACACGCCTTCCTGCA	0.483000													28	35					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29379282	29379282	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:29379282G>T	ENST00000320081.5	+	10	1483	c.1228G>T	c.(1228-1230)Gaa>Taa	p.E410*	CLIP4_ENST00000404424.1_Nonsense_Mutation_p.E410*|CLIP4_ENST00000401605.1_Nonsense_Mutation_p.E410*|CLIP4_ENST00000401617.2_Nonsense_Mutation_p.E303*	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	410										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TCCTGGTGAAGAACTTAAAAC	0.318000													14	16					3.27435e-08	3.58418e-08	1	1	0
CHD1	1105	broad.mit.edu	37	5	98215333	98215333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:98215333G>A	ENST00000284049.3	-	22	3309	c.3160C>T	c.(3160-3162)Cga>Tga	p.R1054*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1054					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCTTCTAATCGTCTTCTTTGA	0.338000													17	24					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202131261	202131261	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:202131261G>T	ENST00000358485.4	+	2	425	c.229G>T	c.(229-231)Gat>Tat	p.D77Y	CASP8_ENST00000432109.2_Missense_Mutation_p.D18Y|CASP8_ENST00000323492.7_Missense_Mutation_p.D18Y|CASP8_ENST00000392259.2_Missense_Mutation_p.D18Y|CASP8_ENST00000392258.3_Missense_Mutation_p.D18Y|CASP8_ENST00000264274.9_Missense_Mutation_p.D18Y|CASP8_ENST00000264275.5_Missense_Mutation_p.D18Y|CASP8_ENST00000392266.3_Missense_Mutation_p.D18Y	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	18	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GGACAGTGAAGATCTGGCCTC	0.413000										HNSCC(4;0.00038)			18	4					2.94398e-08	3.22984e-08	1	1	0
PEA15	8682	broad.mit.edu	37	1	160181434	160181434	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:160181434G>A	ENST00000368076.1	+	4	511	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	PEA15_ENST00000360472.4_Missense_Mutation_p.E34K|PEA15_ENST00000368077.1_Missense_Mutation_p.E34K|PEA15_ENST00000488858.1_3'UTR			Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	34	DED.				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding			large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCCCCAGCGAAAAGAGTGA	0.557000													45	54					0	0	1	0	0
FFAR4	338557	broad.mit.edu	37	10	95347273	95347273	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:95347273G>T	ENST00000371483.4	+	4	1097	c.1041G>T	c.(1039-1041)aaG>aaT	p.K347N	FFAR4_ENST00000371481.4_Missense_Mutation_p.K331N|FFAR4_ENST00000604414.1_Intron	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		ATGAGTGGAAGAAAATTTTTT	0.433000													94	74					1.31969e-37	1.84528e-37	1	1	0
SNHG11	128439	broad.mit.edu	37	20	37076748	37076748	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:37076748C>T	ENST00000365032.1	+	0	22																											TAAGTGATCACGGGCTGCCCG	0.567000													65	76					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23926435	23926435	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:23926435A>G	ENST00000402377.3	-	4	2058	c.1917T>C	c.(1915-1917)aaT>aaC	p.N639N	ZNF681_ENST00000395385.3_Silent_p.N570N	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CACCAGCATAATTTCTTTTAT	0.289000													6	5					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47044502	47044502	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:47044502G>T	ENST00000377604.3	+	18	2741	c.1999G>T	c.(1999-2001)Gaa>Taa	p.E667*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.E590*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.E589*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	667					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CAAACAAAAAGAAAACTTCAA	0.552000													32	1					1.08312e-15	1.31309e-15	1	1	0
SHC1	6464	broad.mit.edu	37	1	154938249	154938249	+	Missense_Mutation	SNP	C	C	T	rs116278635	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:154938249C>T	ENST00000448116.2	-	11	1616	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	SHC1_ENST00000368445.5_Missense_Mutation_p.E465K|SHC1_ENST00000606391.1_Missense_Mutation_p.E266K|SHC1_ENST00000368449.4_Missense_Mutation_p.E236K|SHC1_ENST00000368453.4_Missense_Mutation_p.E356K|SHC1_ENST00000368450.1_Missense_Mutation_p.E355K	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	465	CH1.|Pro-rich.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGAGCATCTTCGAAGGGCTCT	0.612000													31	35					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959188	53959188	+	RNA	SNP	G	G	A	rs144532705		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:53959188G>A	ENST00000454407.1	+	0	1880							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AAAGCTTTCCGTTTCAAATCA	0.423000													47	61					0	0	1	0	0
LRRTM2	26045	broad.mit.edu	37	5	138208713	138208713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:138208713C>A	ENST00000274711.6	-	2	1915	c.1537G>T	c.(1537-1539)Gaa>Taa	p.E513*	LRRTM2_ENST00000521094.2_Nonsense_Mutation_p.E74*|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000302763.7_Intron|LRRTM2_ENST00000518785.1_3'UTR	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	513						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACTTCACATTCTTTGTATGGC	0.363000													51	68					1.51926e-22	1.98583e-22	1	1	0
ZNF160	90338	broad.mit.edu	37	19	53571985	53571985	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:53571985G>A	ENST00000601421.1	-	3	2570	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	ZNF160_ENST00000599056.1_Missense_Mutation_p.A601V|ZNF160_ENST00000418871.1_Missense_Mutation_p.A601V|ZNF160_ENST00000429604.1_Missense_Mutation_p.A601V			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	601					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)		ATCACTAAAGGCTCTGCCACA	0.403000													45	43					0	0	1	0	0
RBFOX2	23543	broad.mit.edu	37	22	36164307	36164307	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:36164307G>A	ENST00000405409.2	-	5	911	c.543C>T	c.(541-543)atC>atT	p.I181I	RBFOX2_ENST00000449924.2_Silent_p.I180I|RBFOX2_ENST00000414461.2_Silent_p.I180I|RBFOX2_ENST00000359369.4_Silent_p.I160I|RBFOX2_ENST00000438146.2_Silent_p.I251I|RBFOX2_ENST00000397303.2_Silent_p.I161I|RBFOX2_ENST00000262829.7_Silent_p.I162I|RBFOX2_ENST00000416721.2_Silent_p.I180I	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	190	RRM.				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						CATGCACCTCGATTTTACGGC	0.433000													89	113					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390502	208390502	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:208390502G>T	ENST00000367033.3	-	2	1523	c.766C>A	c.(766-768)Ctc>Atc	p.L256I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	256	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGGACAGTGAGAAAGTAGACA	0.562000													98	121					1.07466e-44	1.52222e-44	1	1	0
AC096579.13	0	broad.mit.edu	37	2	89157206	89157206	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:89157206G>T	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA																							CCTGAGGAAAGAAGCAAACAG	0.473000													5	12					0.000602214	0.000618688	1	1	0
IFIT1	3434	broad.mit.edu	37	10	91163416	91163416	+	Missense_Mutation	SNP	C	C	T	rs144483233		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:91163416C>T	ENST00000546318.1	+	2	2578	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.R462W	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	462					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GTACTATGAGCGGGCCCTGAG	0.453000													16	36					0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10576038	10576038	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:10576038A>G	ENST00000396560.2	+	12	2208	c.1981A>G	c.(1981-1983)Att>Gtt	p.I661V	ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.I661V|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.I205V|ATF7IP2_ENST00000396559.1_3'UTR	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	661	Fibronectin type-III.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						ATCAAAAGATATTTTTGGACG	0.323000													45	48					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463178	5463178	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:5463178C>T	ENST00000296564.7	+	13	3953	c.3731C>T	c.(3730-3732)tCg>tTg	p.S1244L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1244										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GATGATTATTCGTTAAAAAAT	0.388000													24	18					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5040779	5040779	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:5040779G>T	ENST00000251170.7	+	5	537	c.357G>T	c.(355-357)gaG>gaT	p.E119D		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	119	PRELI/MSF1.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TCCACCCTGAGAATGAAGACT	0.577000													18	29					2.94398e-08	3.22984e-08	1	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589001	140589001	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140589001G>A	ENST00000239450.2	+	1	711	c.522G>A	c.(520-522)ccG>ccA	p.P174P	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		174	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATAAATCCGAACTCTCATT	0.423000													32	48					0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8747916	8747916	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:8747916T>G	ENST00000276282.6	-	1	3239	c.2653A>C	c.(2653-2655)Agc>Cgc	p.S885R		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	885										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AAAGGAAAGCTATATTCAATC	0.478000													30	38					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50591565	50591565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:50591565C>T	ENST00000262794.5	+	22	3067	c.2984C>T	c.(2983-2985)gCg>gTg	p.A995V	MOV10L1_ENST00000545383.1_Missense_Mutation_p.A995V|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A975V|MOV10L1_ENST00000395843.1_Missense_Mutation_p.A38V|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A995V|MOV10L1_ENST00000354853.2_Missense_Mutation_p.A38V|MOV10L1_ENST00000395852.1_Missense_Mutation_p.A122V	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	995					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GAGGTCTGTGCGGACCCCACA	0.577000													5	125					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101359740	101359740	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:101359740G>T	ENST00000344327.3	-	4	1645	c.1221C>A	c.(1219-1221)ttC>ttA	p.F407L	TRPC6_ENST00000360497.4_Intron|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.F407L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	407					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			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)		GGACCACAAGGAACTTGACCG	0.478000													35	39					7.61165e-28	1.03159e-27	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113812462	113812462	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:113812462C>A	ENST00000297405.5	-	13	2145	c.1901G>T	c.(1900-1902)aGt>aTt	p.S634I	CSMD3_ENST00000343508.3_Missense_Mutation_p.S594I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S530I|CSMD3_ENST00000352409.3_Missense_Mutation_p.S634I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	634	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATTTGGCTACTCATGCTCAC	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	35					1.08312e-15	1.31309e-15	1	1	0
SLC16A2	6567	broad.mit.edu	37	X	73744583	73744583	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:73744583G>A	ENST00000276033.5	+	3	1353	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	SLC16A2_ENST00000587091.1_Missense_Mutation_p.R322H			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	322						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	CGCACTTACCGCATCTGGGCC	0.587000													41	1					0	0	1	0	0
ARL13A	392509	broad.mit.edu	37	X	100229174	100229174	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:100229174G>A	ENST00000450049.2	+	3	231	c.118G>A	c.(118-120)Gca>Aca	p.A40T		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	40							GTP binding			endometrium(1)|ovary(1)	2						TCTTGTGGAGGCATTCCAAAA	0.413000													5	0					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823422	97823422	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:97823422C>T	ENST00000297293.5	+	11	3938	c.3645C>T	c.(3643-3645)ttC>ttT	p.F1215F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1215					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCGATGACTTCGAGACACAGG	0.597000													21	30					0	0	1	0	0
PRPF40A	55660	broad.mit.edu	37	2	153519154	153519154	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:153519154C>A	ENST00000410080.1	-	21	2826	c.2285G>T	c.(2284-2286)aGa>aTa	p.R762I		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	789	FF 5.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TATTCGTTTTCTTTCAGATTC	0.264000													9	14					0.000673444	0.000691067	1	1	0
FAM111B	374393	broad.mit.edu	37	11	58892634	58892634	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:58892634G>A	ENST00000343597.3	+	4	1255	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	FAM111B_ENST00000411426.1_Missense_Mutation_p.R325Q|FAM111B_ENST00000529618.1_Missense_Mutation_p.R325Q	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	355							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AGTTTGCCCCGAAAATATAGG	0.398000													56	87					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137330545	137330545	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:137330545C>A	ENST00000367748.1	-	3	741	c.155G>T	c.(154-156)aGa>aTa	p.R52I	IL20RA_ENST00000316649.5_Missense_Mutation_p.R163I|IL20RA_ENST00000541547.1_Missense_Mutation_p.R114I|IL20RA_ENST00000367746.3_Missense_Mutation_p.R163I|IL20RA_ENST00000468393.1_5'UTR	NM_001278723.1	NP_001265652.1	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	163	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TTCTGGATTTCTCTTCCACTT	0.438000													6	107					5.9392e-07	6.40003e-07	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124258770	124258770	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:124258770A>C	ENST00000409039.3	+	5	422	c.397A>C	c.(397-399)Aac>Cac	p.N133H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	133	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGAATTATAAACGCTAATGT	0.363000													49	45					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53208199	53208199	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:53208199C>A	ENST00000543227.1	-	6	2383	c.2109G>T	c.(2107-2109)gaG>gaT	p.E703D	ZNF611_ENST00000319783.1_Missense_Mutation_p.E703D|ZNF611_ENST00000540744.1_Missense_Mutation_p.E703D|ZNF611_ENST00000453741.2_Missense_Mutation_p.E634D|ZNF611_ENST00000602162.1_Missense_Mutation_p.E634D|ZNF611_ENST00000595798.1_Missense_Mutation_p.E634D	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCTAAGGTTTCTCTCCAGTAT	0.358000													54	38					5.57489e-27	7.5135e-27	1	1	0
TNXB	7148	broad.mit.edu	37	6	32017133	32017133	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:32017133A>G	ENST00000375244.3	-	28	9872	c.9671T>C	c.(9670-9672)cTg>cCg	p.L3224P	TNXB_ENST00000375247.2_Missense_Mutation_p.L3222P			P22105	TENX_HUMAN	tenascin XB	3269	Fibronectin type-III 24.				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						CCCGGGCTCCAGGCCCCCCAC	0.687000													29	30					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117848674	117848674	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:117848674G>A	ENST00000350763.4	-	3	1747	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	TNC_ENST00000535648.1_Missense_Mutation_p.R446W|TNC_ENST00000537320.1_Missense_Mutation_p.R446W|TNC_ENST00000345230.3_Missense_Mutation_p.R446W|TNC_ENST00000341037.4_Missense_Mutation_p.R446W|TNC_ENST00000340094.3_Missense_Mutation_p.R446W|TNC_ENST00000542877.1_Missense_Mutation_p.R446W|TNC_ENST00000423613.2_Missense_Mutation_p.R446W|TNC_ENST00000346706.3_Missense_Mutation_p.R446W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	446	EGF-like 10.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGCGGCCCCGACTGTGACAG	0.587000													67	84					0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61710043	61710043	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:61710043G>A	ENST00000361357.3	+	2	325	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	MAP3K3_ENST00000577395.1_Missense_Mutation_p.E3K|MAP3K3_ENST00000579585.1_Missense_Mutation_p.E3K|MAP3K3_ENST00000584573.1_Missense_Mutation_p.E3K|MAP3K3_ENST00000361733.3_Missense_Mutation_p.E3K	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	3					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CATTGCAGACGAACAGGAGGC	0.463000													28	34					0	0	1	0	0
LOC101927648	101927648	broad.mit.edu	37	1	143403556	143403556	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:143403556C>A	ENST00000423249.1	-	0	59																											AACAGGATTTCTTTGGCCACT	0.463000													5	13					0.00307968	0.00313733	1	1	0
TMEM259	91304	broad.mit.edu	37	19	1012506	1012506	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:1012506G>A	ENST00000356663.3	-	4	795	c.674C>T	c.(673-675)gCc>gTc	p.A225V	TMEM259_ENST00000333175.5_Missense_Mutation_p.A225V	NM_001033026.1	NP_001028198.1			transmembrane protein 259																		CTGGCGGGTGGCCTGCGACAG	0.662000													6	3					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47769079	47769079	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:47769079C>T	ENST00000359568.5	+	7	1293	c.1186C>T	c.(1186-1188)Caa>Taa	p.Q396*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	396	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAAGATTTTTCAAGACAAAAA	0.398000													45	60					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38954947	38954947	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:38954947C>T	ENST00000357387.3	-	27	2656	c.2626G>A	c.(2626-2628)Gtc>Atc	p.V876I	RICTOR_ENST00000503698.1_5'UTR|RICTOR_ENST00000296782.5_Missense_Mutation_p.V876I	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	876					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GGCAGGTAGACGTGAGGACGC	0.303000													20	21					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228465523	228465523	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:228465523G>A	ENST00000570156.2	+	30	8184	c.8110G>A	c.(8110-8112)Gaa>Aaa	p.E2704K	OBSCN_ENST00000422127.1_Missense_Mutation_p.E2275K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E1122K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E2275K|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1701	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATTTGTAGCCGAAAATGCAGA	0.617000													46	64					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126237778	126237778	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:126237778C>T	ENST00000394329.3	+	1	225	c.212C>T	c.(211-213)aCc>aTc	p.T71I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	71	Cadherin 1.				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						CCCGGCTTCACCTACAGGCTC	0.652000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	35					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262328	140262328	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140262328G>A	ENST00000289272.2	+	1	475	c.475G>A	c.(475-477)Gat>Aat	p.D159N	PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.D159N|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGCATCCGATGCAGATAT	0.443000													42	42					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79763625	79763625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:79763625G>T	ENST00000335016.5	+	4	656	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	BMP2K_ENST00000502871.1_Nonsense_Mutation_p.E164*	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	164	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TGATACCTGTGAAGCTGTTGC	0.383000													12	17					9.31168e-06	9.8413e-06	1	1	0
SESN3	143686	broad.mit.edu	37	11	94918550	94918550	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:94918550C>T	ENST00000536441.1	-	5	968	c.632G>A	c.(631-633)gGt>gAt	p.G211D	RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.G211D|SESN3_ENST00000393234.1_Missense_Mutation_p.G211D|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.G72D	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	211					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TGGATTGATACCACTACCAAA	0.413000													65	93					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2452342	2452342	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:2452342G>A	ENST00000378466.3	-	4	438	c.426C>T	c.(424-426)gtC>gtT	p.V142V	PANK4_ENST00000435556.3_Intron	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	142					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCTCCTTGTCGACTCTGAAAA	0.577000													27	36					0	0	1	0	0
MRPL50	54534	broad.mit.edu	37	9	104153098	104153098	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:104153098C>A	ENST00000374865.4	-	2	148	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	MRPL50_ENST00000539624.1_Nonsense_Mutation_p.E43*	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	43						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				TTTTTCTCTTCTACTGTCTCA	0.408000													47	60					8.04919e-23	1.05418e-22	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52321374	52321374	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:52321374G>T	ENST00000356297.4	-	17	2910	c.2810C>A	c.(2809-2811)tCt>tAt	p.S937Y	PXDNL_ENST00000543296.1_Missense_Mutation_p.S937Y	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	937					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGGCCTGTAGAAAAGGGCAA	0.652000													22	19					3.5997e-14	4.2784e-14	1	1	0
TRIM42	287015	broad.mit.edu	37	3	140397283	140397283	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:140397283C>T	ENST00000286349.3	+	1	403	c.212C>T	c.(211-213)gCc>gTc	p.A71V		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	71	Cys-rich.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGCTCTTGGGCCAATGATCCC	0.542000													39	52					0	0	1	0	0
SYNJ2BP	55333	broad.mit.edu	37	14	70842468	70842468	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:70842468C>A	ENST00000256366.4	-	3	303	c.222G>T	c.(220-222)aaG>aaT	p.K74N	SYNJ2BP_ENST00000554216.1_5'UTR|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		GCAGCAGGTTCTTTAGGTCTT	0.428000													51	64					6.27289e-28	8.50797e-28	1	1	0
TRIM68	55128	broad.mit.edu	37	11	4623475	4623475	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:4623475G>A	ENST00000300747.5	-	4	979	c.690C>T	c.(688-690)aaC>aaT	p.N230N		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	230					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCTCGCTATGGTTCAACTCCA	0.587000													26	41					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62800638	62800638	+	Silent	SNP	G	G	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:62800638G>C	ENST00000512091.2	+	13	2736	c.1989G>C	c.(1987-1989)ctG>ctC	p.L663L	LPHN3_ENST00000504896.1_Silent_p.L663L|LPHN3_ENST00000508693.1_Silent_p.L731L|LPHN3_ENST00000514996.1_Silent_p.L663L|LPHN3_ENST00000509896.1_Silent_p.L731L|LPHN3_ENST00000507164.1_Silent_p.L731L|LPHN3_ENST00000514591.1_Silent_p.L663L|LPHN3_ENST00000508946.1_Silent_p.L663L|LPHN3_ENST00000545650.1_Silent_p.L663L|LPHN3_ENST00000511324.1_Silent_p.L731L|LPHN3_ENST00000514157.1_Silent_p.L663L|LPHN3_ENST00000506700.1_Silent_p.L663L|LPHN3_ENST00000507625.1_Silent_p.L731L|LPHN3_ENST00000506720.1_Silent_p.L731L|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000506746.1_Silent_p.L731L			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTGATCAGCTGCGTGCGGCCA	0.463000													15	22					0	0	1	0	0
CCL22	6367	broad.mit.edu	37	16	57397488	57397488	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:57397488G>T	ENST00000219235.4	+	3	315	c.270G>T	c.(268-270)aaG>aaT	p.K90N		NM_002990.4	NP_002981.2	O00626	CCL22_HUMAN	chemokine (C-C motif) ligand 22	90					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to virus|signal transduction	extracellular space	chemokine activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						TTCTCAATAAGCTGAGCCAAT	0.552000													5	32					1.23904e-05	1.30512e-05	1	1	0
MGA	23269	broad.mit.edu	37	15	42041074	42041074	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:42041074C>T	ENST00000219905.7	+	16	5633	c.5452C>T	c.(5452-5454)Cga>Tga	p.R1818*	MGA_ENST00000545763.1_Nonsense_Mutation_p.R1609*|MGA_ENST00000570161.1_Nonsense_Mutation_p.R1818*|MGA_ENST00000566586.1_Nonsense_Mutation_p.R1609*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R1779*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1779						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R1867*(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GCATCAGCTTCGAGGCTCTAA	0.448000													32	42					0	0	1	0	0
NARF	26502	broad.mit.edu	37	17	80426645	80426645	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:80426645T>G	ENST00000309794.11	+	4	456	c.258T>G	c.(256-258)tgT>tgG	p.C86W	NARF_ENST00000412079.2_5'UTR|NARF_ENST00000345415.7_Missense_Mutation_p.C38W|NARF_ENST00000581743.1_3'UTR|NARF_ENST00000457415.3_Missense_Mutation_p.C86W|NARF_ENST00000390006.4_Missense_Mutation_p.C27W	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor							lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCTAGAAATGTGATACCTCAA	0.373000													36	42					0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78130828	78130828	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:78130828G>T	ENST00000535157.1	+	3	311	c.141G>T	c.(139-141)aaG>aaT	p.K47N	SCEL_ENST00000349847.3_Missense_Mutation_p.K47N|SCEL_ENST00000377246.3_Missense_Mutation_p.K47N	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	47					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GTTGGATAAAGAAACGCCCTG	0.468000													83	87					1.26005e-42	1.77774e-42	1	1	0
ZNF534	147658	broad.mit.edu	37	19	52937206	52937206	+	Splice_Site	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:52937206A>G	ENST00000332323.6	+	2	76		c.e2-1		ZNF534_ENST00000301085.4_Splice_Site|ZNF534_ENST00000433050.1_Splice_Site|ZNF534_ENST00000432303.2_Splice_Site	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ATTTCCTTTTAGGGGCAATTG	0.448000													41	35					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101657854	101657854	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:101657854C>T	ENST00000342239.3	-	9	3000	c.2909G>A	c.(2908-2910)cGa>cAa	p.R970Q	DNMBP_ENST00000543621.1_Missense_Mutation_p.R216Q|DNMBP_ENST00000540316.1_5'UTR|DNMBP_ENST00000324109.4_Missense_Mutation_p.R970Q			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	970					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CAGGTCCTTTCGCCGTTTATA	0.418000													18	46					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377742	44377742	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:44377742A>C	ENST00000587539.1	-	3	623	c.624T>G	c.(622-624)atT>atG	p.I208M	ZNF404_ENST00000324394.6_Missense_Mutation_p.I206M	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TACCAGTATGAATTATCTGAT	0.378000													43	54					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12516860	12516860	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:12516860C>T	ENST00000380682.1	+	2	609	c.103C>T	c.(103-105)Ccg>Tcg	p.P35S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	35	WW.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGCCAGGTGCCGCCCTATGG	0.512000													34	1					0	0	1	0	0
ARL9	132946	broad.mit.edu	37	4	57384906	57384906	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:57384906A>G	ENST00000360096.2	+	3	393	c.79A>G	c.(79-81)Atc>Gtc	p.I27V		NM_206919.1	NP_996802.1	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	91							GTP binding			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					ATTGCTGCTGATCTTTGTGGT	0.453000													32	37					0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225599097	225599097	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:225599097C>T	ENST00000338179.2	-	9	1255	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q	LBR_ENST00000272163.4_Missense_Mutation_p.R377Q	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	377					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AGTACCAATTCGAGGGTTTAA	0.388000													42	81					0	0	1	0	0
ABI1	10006	broad.mit.edu	37	10	27112207	27112207	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:27112207C>T	ENST00000355394.4	-	2	368	c.145G>A	c.(145-147)Gag>Aag	p.E49K	ABI1_ENST00000346832.5_Missense_Mutation_p.E66K|ABI1_ENST00000473481.1_5'UTR|ABI1_ENST00000376170.4_Missense_Mutation_p.E49K|ABI1_ENST00000376160.1_Missense_Mutation_p.E49K|ABI1_ENST00000376138.3_Missense_Mutation_p.E49K|ABI1_ENST00000376142.2_Missense_Mutation_p.E49K|ABI1_ENST00000376134.3_Missense_Mutation_p.E49K|ABI1_ENST00000490841.2_Missense_Mutation_p.E49K|ABI1_ENST00000376137.4_Missense_Mutation_p.E49K|ABI1_ENST00000376140.3_Missense_Mutation_p.E49K|ABI1_ENST00000376166.1_Missense_Mutation_p.E49K|ABI1_ENST00000359188.4_Missense_Mutation_p.E49K|ABI1_ENST00000536334.1_Missense_Mutation_p.E49K|ABI1_ENST00000376139.2_Missense_Mutation_p.E49K			Q8IZP0	ABI1_HUMAN	abl-interactor 1	49	Required for binding to WASF1 (By similarity).|t-SNARE coiled-coil homology.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTTTGGTCTCCTCTAAAGCT	0.343000													13	20					0	0	1	0	0
SLC9B2	133308	broad.mit.edu	37	4	103979113	103979113	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:103979113A>C	ENST00000394785.3	-	4	918	c.287T>G	c.(286-288)cTt>cGt	p.L96R	SLC9B2_ENST00000339611.4_Missense_Mutation_p.L96R|SLC9B2_ENST00000503230.1_Intron|SLC9B2_ENST00000362026.3_Missense_Mutation_p.L96R|SLC9B2_ENST00000503103.1_Intron	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	96					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										AGCCCACAGAAGAACAATGAT	0.338000													67	78					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175068	57175068	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:57175068G>A	ENST00000537055.2	-	2	1730	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AAGGCGTCCCGAACTGTCTGC	0.642000													99	113					0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52182214	52182214	+	Missense_Mutation	SNP	G	G	A	rs151295857		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:52182214G>A	ENST00000395718.2	+	10	1282	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	FRMD6_ENST00000344768.5_Missense_Mutation_p.E341K|FRMD6_ENST00000356218.4_Missense_Mutation_p.E333K|FRMD6_ENST00000554167.1_Missense_Mutation_p.E264K	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	341						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GGAGGAAAACGAAGGTATTGC	0.522000													30	34					0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310659	178310659	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:178310659A>G	ENST00000322434.3	+	5	1432	c.1206A>G	c.(1204-1206)agA>agG	p.R402R		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACATGAAAGAATTCACACCG	0.403000													28	35					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81732974	81732974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:81732974G>A	ENST00000550584.2	-	20	2828	c.2533C>T	c.(2533-2535)Cga>Tga	p.R845*	PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R771*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.R62*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R746*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R692*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R412*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R845*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	771								p.R845*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGCCCAAGTCGAGCTTTTTCT	0.413000													56	94					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55962510	55962510	+	Splice_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:55962510C>A	ENST00000263923.4	-	19	2910		c.e19-1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GTTGCTCCTTCTACAAATACA	0.463000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			12	13					6.40141e-05	6.67685e-05	1	1	0
SPATA4	132851	broad.mit.edu	37	4	177114217	177114217	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:177114217C>A	ENST00000280191.2	-	3	467	c.359G>T	c.(358-360)aGa>aTa	p.R120I	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	120					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		AAATTTTTTTCTTGCCAGGAA	0.269000													7	16					3.09899e-07	3.35435e-07	1	1	0
SEMA6B	10501	broad.mit.edu	37	19	4550810	4550810	+	Splice_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:4550810C>A	ENST00000586582.1	-	11	1432		c.e11+1		SEMA6B_ENST00000586965.1_Splice_Site|SEMA6B_ENST00000301293.3_Splice_Site	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B						cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTTCTCACCGGGGTCGAG	0.627000													30	45					4.4194e-11	5.0544e-11	1	1	0
UBR3	130507	broad.mit.edu	37	2	170871819	170871819	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:170871819C>T	ENST00000272793.5	+	30	4446	c.4396C>T	c.(4396-4398)Cga>Tga	p.R1466*	UBR3_ENST00000418381.1_Nonsense_Mutation_p.R1466*|UBR3_ENST00000465630.1_3'UTR|UBR3_ENST00000392631.1_Nonsense_Mutation_p.R287*			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1466					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATTGATTCATCGAGGAGGCAA	0.318000													15	35					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132419185	132419185	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:132419185G>A	ENST00000326682.8	-	11	1812	c.1736C>T	c.(1735-1737)aCt>aTt	p.T579I	NPHP3_ENST00000337331.5_Missense_Mutation_p.T579I			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	579					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TACCTTTAGAGTTAGTCGTTT	0.368000													22	27					0	0	1	0	0
LRRTM2	26045	broad.mit.edu	37	5	138209469	138209469	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:138209469T>C	ENST00000274711.6	-	2	1159	c.781A>G	c.(781-783)Act>Gct	p.T261A	LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000302763.7_Intron|LRRTM2_ENST00000518785.1_3'UTR	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	261						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCATTTCCAGTCAGGTCTAGC	0.428000													18	362					0	0	1	0	0
ANXA11	311	broad.mit.edu	37	10	81930615	81930615	+	Missense_Mutation	SNP	C	C	T	rs142083484		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:81930615C>T	ENST00000438331.1	-	5	594	c.112G>A	c.(112-114)Ggg>Agg	p.G38R	ANXA11_ENST00000265447.4_Missense_Mutation_p.G38R|ANXA11_ENST00000535999.1_Missense_Mutation_p.G38R|ANXA11_ENST00000422982.3_Missense_Mutation_p.G38R|ANXA11_ENST00000360615.4_Missense_Mutation_p.G38R|ANXA11_ENST00000372231.3_Missense_Mutation_p.G38R|ANXA11_ENST00000537102.1_Missense_Mutation_p.G5R	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	38					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TTATCCAGCCCGATGGGGGGC	0.647000													25	41					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169196502	169196502	+	Silent	SNP	T	T	C	rs139888899	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:169196502T>C	ENST00000393743.3	-	16	2589	c.2298A>G	c.(2296-2298)acA>acG	p.T766T		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	766							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTACCTGCCATGTGTCGGGAA	0.393000													15	24					0	0	1	0	0
SNF8	11267	broad.mit.edu	37	17	47009064	47009064	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:47009064T>C	ENST00000502492.1	-	7	962	c.580A>G	c.(580-582)Act>Gct	p.T194A	SNF8_ENST00000290330.3_Missense_Mutation_p.T193A|SNF8_ENST00000514089.1_5'UTR			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	194					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding			breast(1)|endometrium(1)|lung(1)	3						TCACTGACAGTCACGTAGCCA	0.507000													102	85					0	0	1	0	0
EDDM3B	64184	broad.mit.edu	37	14	21238401	21238401	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:21238401G>T	ENST00000326783.3	+	2	190	c.92G>T	c.(91-93)aGa>aTa	p.R31I		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	31					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GTTTCTTGGAGAGAATTCATG	0.438000													34	32					4.74835e-14	5.62983e-14	1	1	0
SLC6A13	6540	broad.mit.edu	37	12	351852	351852	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:351852C>T	ENST00000343164.4	-	4	458	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	SLC6A13_ENST00000445055.2_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	136					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TAGAACAGGGCCCAGGCCAAC	0.562000													8	14					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548863	50548863	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:50548863C>T	ENST00000595661.1	+	6	1658	c.1163C>T	c.(1162-1164)tCg>tTg	p.S388L	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.S388L|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.S388L|ZNF473_ENST00000445728.3_Missense_Mutation_p.S376L|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	388	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGGCACAGTTCGCTGCTCATT	0.453000													50	44					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40376656	40376656	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:40376656C>T	ENST00000221347.6	-	24	11773	c.11766G>A	c.(11764-11766)gaG>gaA	p.E3922E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3922						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCCTCCAGGGCTCCACGTGGC	0.602000													42	254					0	0	1	0	0
LYNX1	66004	broad.mit.edu	37	8	143846064	143846064	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:143846064A>C	ENST00000335822.5	-	5	982	c.355T>G	c.(355-357)Tcc>Gcc	p.S119A	LYNX1_ENST00000317543.7_Missense_Mutation_p.S85A|LYNX1_ENST00000523332.1_Intron|RP11-706C16.7_ENST00000523657.1_RNA	NM_023946.2	NP_076435.1	Q86SR0	SLUR2_HUMAN	Ly6/neurotoxin 1	85						extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAAGCGATGGATACGTAGGGG	0.662000													34	45					0	0	1	0	0
FAM101B	359845	broad.mit.edu	37	17	293246	293246	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:293246G>T	ENST00000329099.4	-	2	143	c.144C>A	c.(142-144)ttC>ttA	p.F48L		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	118	Poly-Gly.									breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		CGTCGTCGATGAAGTGCCTCT	0.662000													51	72					7.77372e-23	1.01886e-22	1	1	0
TSGA13	114960	broad.mit.edu	37	7	130357609	130357609	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:130357609C>T	ENST00000456951.1	-	7	1346	c.495G>A	c.(493-495)tcG>tcA	p.S165S	TSGA13_ENST00000356588.3_Silent_p.S165S			Q96PP4	TSG13_HUMAN	testis specific, 13	165										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGGGATCATCCGACAGTATCA	0.428000													42	42					0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154702787	154702787	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:154702787G>A	ENST00000274063.4	-	3	988	c.704C>T	c.(703-705)tCg>tTg	p.S235L		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	235	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	p.S235L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CCACAGCACCGATTTCTTCAG	0.512000													48	51					0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72781652	72781652	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:72781652T>C	ENST00000335464.5	+	3	239	c.77T>C	c.(76-78)gTg>gCg	p.V26A	TMEM104_ENST00000582773.1_Missense_Mutation_p.V26A|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.V26A	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	26						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					AACCTCATCGTGGGCACGGGC	0.572000													74	75					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56096844	56096844	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:56096844C>T	ENST00000257880.7	-	2	544	c.325G>A	c.(325-327)Gac>Aac	p.D109N	ITGA7_ENST00000553804.1_Missense_Mutation_p.D109N|ITGA7_ENST00000347027.6_Missense_Mutation_p.D109N|ITGA7_ENST00000555728.1_Missense_Mutation_p.D109N|ITGA7_ENST00000257879.6_Missense_Mutation_p.D109N|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000394230.2_Missense_Mutation_p.D109N|ITGA7_ENST00000394229.2_Missense_Mutation_p.D109N			Q13683	ITA7_HUMAN	integrin, alpha 7	109					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCTCCCTGGTCGATGTCCACT	0.627000													61	76					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56089420	56089420	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:56089420A>G	ENST00000373965.2	-	7	1035	c.641T>C	c.(640-642)aTa>aCa	p.I214T	PCDH15_ENST00000395430.1_Missense_Mutation_p.I214T|PCDH15_ENST00000395446.1_Missense_Mutation_p.I214T|PCDH15_ENST00000395433.1_Missense_Mutation_p.I192T|PCDH15_ENST00000395442.1_Missense_Mutation_p.I214T|PCDH15_ENST00000437009.1_Missense_Mutation_p.I214T|PCDH15_ENST00000395438.1_Missense_Mutation_p.I214T|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.I214T|PCDH15_ENST00000373955.1_Missense_Mutation_p.I214T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.I219T|PCDH15_ENST00000395440.1_Missense_Mutation_p.I214T|PCDH15_ENST00000373957.3_Missense_Mutation_p.I192T|PCDH15_ENST00000395445.1_Missense_Mutation_p.I214T|PCDH15_ENST00000320301.6_Missense_Mutation_p.I214T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	214	Cadherin 2.				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)				CCTTAACACTATATTTCCAGT	0.313000										HNSCC(58;0.16)			58	78					0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49813331	49813331	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:49813331C>A	ENST00000454748.3	-	4	867	c.666G>T	c.(664-666)gaG>gaT	p.E222D	SLC6A16_ENST00000335875.4_Missense_Mutation_p.E222D			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	222						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGGGACATTTCTCCCATGGAA	0.478000													36	36					2.05212e-20	2.63646e-20	1	1	0
PPEF1	5475	broad.mit.edu	37	X	18797202	18797202	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:18797202G>T	ENST00000361511.4	+	10	1127	c.633G>T	c.(631-633)gaG>gaT	p.E211D	PPEF1_ENST00000349874.5_Missense_Mutation_p.E211D|PPEF1_ENST00000544635.1_Missense_Mutation_p.E146D|PPEF1_ENST00000359763.6_Missense_Mutation_p.E158D|PPEF1_ENST00000543630.1_Missense_Mutation_p.E211D	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	211	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATTCCATAGAGATCCTAATGA	0.433000													67	0					1.02487e-32	1.41597e-32	1	1	0
CCDC155	147872	broad.mit.edu	37	19	49897812	49897812	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:49897812C>T	ENST00000447857.3	+	3	328	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	41						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						ACTCCACGTTCGAAGCTTGTG	0.637000													41	51					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90770368	90770368	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:90770368C>T	ENST00000354366.3	-	5	1148	c.916G>A	c.(916-918)Gct>Act	p.A306T	NRDE2_ENST00000357904.3_Missense_Mutation_p.A75T	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		GCCTTGAGAGCCGCACTCTCG	0.542000													4	142					0	0	1	0	0
CETN2	1069	broad.mit.edu	37	X	151996404	151996404	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:151996404T>G	ENST00000370277.3	-	5	566	c.500A>C	c.(499-501)aAa>aCa	p.K167T	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	167	EF-hand 4.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGGTCTTTTTCATGATGCG	0.403000								Direct reversal of damage;Nucleotide excision repair (NER)					49	5					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38225498	38225498	+	Silent	SNP	C	C	T	rs150355444	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:38225498C>T	ENST00000379705.3	-	8	2840	c.1983G>A	c.(1981-1983)ccG>ccA	p.P661P	TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000355779.2_Silent_p.P661P|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379681.3_Silent_p.P661P|TRPC4_ENST00000358477.2_Silent_p.P661P|TRPC4_ENST00000447043.1_Silent_p.P661P|TRPC4_ENST00000379679.1_Silent_p.P488P|TRPC4_ENST00000338947.5_Silent_p.P488P			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	661	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACTTGGGGCTCGGGATGACAT	0.428000													35	49					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31838188	31838188	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:31838188C>A	ENST00000357033.4	-	50	7419	c.7213G>T	c.(7213-7215)Gat>Tat	p.D2405Y	DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.D2401Y|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2405					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAGCTCAGATCTTCTAACTTC	0.398000													25	3					1.77063e-15	2.14316e-15	1	1	0
TMTC4	84899	broad.mit.edu	37	13	101294550	101294550	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:101294550G>A	ENST00000342624.5	-	7	914	c.656C>T	c.(655-657)gCg>gTg	p.A219V	TMTC4_ENST00000328767.5_Missense_Mutation_p.A89V|TMTC4_ENST00000376234.3_Missense_Mutation_p.A200V|TMTC4_ENST00000462211.1_5'UTR	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	200						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGAAGAATGCGCTCCCTCCTT	0.468000													48	64					0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214171	11214171	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:11214171G>T	ENST00000533467.1	-	1	722	c.723C>A	c.(721-723)taC>taA	p.Y241*	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	241					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TGGACAGAAAGTAAATGGCAC	0.433000													106	100					2.94851e-48	4.18982e-48	1	1	0
CCDC30	728621	broad.mit.edu	37	1	43055078	43055078	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:43055078C>T	ENST00000428554.2	+	16	2450	c.1307C>T	c.(1306-1308)tCt>tTt	p.S436F	CCDC30_ENST00000390640.4_Missense_Mutation_p.S225F|CCDC30_ENST00000340612.4_Missense_Mutation_p.S436F|CCDC30_ENST00000342022.4_Missense_Mutation_p.S436F|CCDC30_ENST00000507855.1_Missense_Mutation_p.S225F			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	436										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ATGACCTGTTCTCAGCAACAA	0.358000													34	52					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107323724	107323724	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:107323724C>T	ENST00000265715.3	+	7	1067	c.843C>T	c.(841-843)gtC>gtT	p.V281V		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	281			V -> I (in DFNB4).		regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CCATTGTCGTCTGTATGGCAG	0.338000									Pendred syndrome				45	50					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187626438	187626438	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:187626438C>T	ENST00000304698.5	+	8	1572	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	457						integral to membrane	DNA binding	p.R457R(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGTAAAAACTCGGGACGATTT	0.368000													23	100					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170078435	170078435	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:170078435G>A	ENST00000458537.3	+	1	1025	c.316G>A	c.(316-318)Gca>Aca	p.A106T	SKIL_ENST00000426052.2_Missense_Mutation_p.A86T|SKIL_ENST00000413427.2_Missense_Mutation_p.A106T|SKIL_ENST00000259119.4_Missense_Mutation_p.A106T	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	106					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGGACCAGCAGCATTTTCTGC	0.468000													104	110					0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74835186	74835186	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:74835186C>T	ENST00000370895.1	+	18	1922	c.1887C>T	c.(1885-1887)tgC>tgT	p.C629C	FPGT-TNNI3K_ENST00000370899.3_Silent_p.C629C|FPGT-TNNI3K_ENST00000557284.2_Silent_p.C642C|TNNI3K_ENST00000370891.2_Silent_p.C629C|TNNI3K_ENST00000326637.3_Silent_p.C528C|RP11-439H8.4_ENST00000415549.2_RNA			Q59H18	TNI3K_HUMAN		528	Protein kinase.		R -> G (in a colorectal cancer sample; somatic mutation).	R -> L (in Ref. 8; AAH32865).		cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TGGGTGCTTGCTTGAATGATC	0.473000													57	67					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81212443	81212443	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:81212443C>A	ENST00000394685.3	+	15	2225	c.1806C>A	c.(1804-1806)gaC>gaA	p.D602E	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D602E|KIAA1199_ENST00000356249.5_Missense_Mutation_p.D602E			Q8WUJ3	K1199_HUMAN	KIAA1199	602										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGATCAAGGACGTTGTGGGCT	0.493000													18	40					3.52763e-06	3.75281e-06	1	1	0
STEAP2	261729	broad.mit.edu	37	7	89856723	89856723	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:89856723T>G	ENST00000287908.3	+	3	1324	c.931T>G	c.(931-933)Ttc>Gtc	p.F311V	STEAP2_ENST00000394626.1_Missense_Mutation_p.F311V|STEAP2_ENST00000394621.2_Missense_Mutation_p.F311V|STEAP2_ENST00000394622.2_Missense_Mutation_p.F311V|STEAP2_ENST00000394629.2_Missense_Mutation_p.F311V|STEAP2_ENST00000402625.2_Missense_Mutation_p.F311V|STEAP2_ENST00000394632.1_Missense_Mutation_p.F311V	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	311	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ACTAAGTTTTTTCTTCGCTAT	0.418000													35	27					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65907510	65907510	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:65907510C>T	ENST00000321892.4	+	13	3949	c.3888C>T	c.(3886-3888)gtC>gtT	p.V1296V	BPTF_ENST00000424123.3_Silent_p.V1157V|BPTF_ENST00000306378.6_Silent_p.V1170V|BPTF_ENST00000335221.5_Silent_p.V1296V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1296					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAGATGATGTCTCCATTCGGA	0.403000													29	28					0	0	1	0	0
SLC22A13	9390	broad.mit.edu	37	3	38315781	38315781	+	Missense_Mutation	SNP	C	C	T	rs138198431		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:38315781C>T	ENST00000311856.4	+	2	446	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	SLC22A13_ENST00000450935.2_Missense_Mutation_p.R92W	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	133						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GGTTTGTGATCGGAAGCACCT	0.577000													49	55					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	127999395	127999395	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:127999395T>C	ENST00000324460.6	-	8	1644	c.1441A>G	c.(1441-1443)Aca>Gca	p.T481A		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	481					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	AGATCAAATGTACCCAGAAGA	0.423000										Prostate(1;0.17)			22	37					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50042077	50042077	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:50042077G>A	ENST00000335154.5	-	22	2808	c.2575C>T	c.(2575-2577)Cgg>Tgg	p.R859W	FMNL3_ENST00000352151.5_Missense_Mutation_p.R808W|FMNL3_ENST00000293590.5_Missense_Mutation_p.R859W|FMNL3_ENST00000550488.1_Missense_Mutation_p.R859W	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	859	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CACTCACGCCGAATCAGCTCC	0.597000													22	38					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119929330	119929330	+	Missense_Mutation	SNP	G	G	A	rs145555015		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:119929330G>A	ENST00000361035.4	+	6	969	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	HAO2_ENST00000325945.3_Missense_Mutation_p.R216Q			Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	216	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	p.R216Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AGCATAACTCGATTGCCCATC	0.433000													33	54					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109308757	109308757	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:109308757T>C	ENST00000436639.2	-	10	2391	c.1646A>G	c.(1645-1647)tAt>tGt	p.Y549C	SESN1_ENST00000302071.2_Missense_Mutation_p.Y424C|SESN1_ENST00000356644.7_Missense_Mutation_p.Y490C	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	490					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TCAGGTCATATAGCGGGTAAT	0.408000													19	31					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93119327	93119327	+	Missense_Mutation	SNP	C	C	T	rs142007147		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:93119327C>T	ENST00000216487.7	+	6	2092	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	645	Interaction with RAB5B.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.R645C(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCAGGAGATTCGCACCATGAT	0.622000													25	32					0	0	1	0	0
NT5C3B	115024	broad.mit.edu	37	17	39983699	39983699	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:39983699T>G	ENST00000269534.8	-	8	824	c.723A>C	c.(721-723)aaA>aaC	p.K241N	NT5C3B_ENST00000521789.1_Intron|NT5C3B_ENST00000435506.2_Missense_Mutation_p.K249N	NM_052935.4	NP_443167.4			5'-nucleotidase, cytosolic IIIB																		GGAAGCCAATTTTGAGAATGT	0.488000													85	95					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124252152	124252152	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:124252152G>T	ENST00000409039.3	+	2	56		c.e2-1			NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10						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)		TGGCCATAAAGATGAGATACC	0.433000													8	17					5.18039e-06	5.50011e-06	1	1	0
CLDN25	644672	broad.mit.edu	37	11	113650686	113650686	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:113650686C>T	ENST00000453129.2	+	1	218	c.169C>T	c.(169-171)Cga>Tga	p.R57*		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	57						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CTGCGTGGATCGAGAGGAAGT	0.562000													64	63					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182586899	182586899	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:182586899A>C	ENST00000323116.5	+	16	1982	c.1722A>C	c.(1720-1722)tcA>tcC	p.S574S		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	574					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AATTTGATTCAGATCGTAGGA	0.279000													18	15					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68641228	68641228	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:68641228C>A	ENST00000423218.2	-	10	1166	c.1071G>T	c.(1069-1071)aaG>aaT	p.K357N	ITGA11_ENST00000315757.7_Missense_Mutation_p.K357N			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	357					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AGGTCTCGTTCTTGTTGGTGC	0.582000													11	14					1.36491e-13	1.60792e-13	1	1	0
TLR6	10333	broad.mit.edu	37	4	38830407	38830407	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:38830407A>C	ENST00000436693.2	-	2	807	c.688T>G	c.(688-690)Ttg>Gtg	p.L230V	TLR6_ENST00000381950.1_Missense_Mutation_p.L230V	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	230					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATCATTCAATTTAATATTA	0.338000													28	16					0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112112292	112112292	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:112112292G>T	ENST00000403825.3	+	10	1321	c.1060G>T	c.(1060-1062)Gaa>Taa	p.E354*	IFRD1_ENST00000535603.1_Nonsense_Mutation_p.E304*|IFRD1_ENST00000005558.4_Nonsense_Mutation_p.E354*	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	354					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTTTCCAACAGAAACCATTAA	0.393000													33	54					1.90571e-15	2.30404e-15	1	1	0
COL11A2	1302	broad.mit.edu	37	6	33156881	33156881	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:33156881G>A	ENST00000341947.2	-	3	544	c.317C>T	c.(316-318)gCc>gTc	p.A106V	COL11A2_ENST00000395197.1_Missense_Mutation_p.A106V|COL11A2_ENST00000374712.1_Missense_Mutation_p.A106V|COL11A2_ENST00000395194.1_Missense_Mutation_p.A106V|COL11A2_ENST00000357486.1_Missense_Mutation_p.A106V|COL11A2_ENST00000374714.1_Missense_Mutation_p.A106V|COL11A2_ENST00000374708.4_Missense_Mutation_p.A106V|COL11A2_ENST00000361917.1_Missense_Mutation_p.A106V|COL11A2_ENST00000374713.1_Missense_Mutation_p.A106V	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	106	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GACACCCTGGGCACTGTAGAG	0.602000													32	41					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102440402	102440402	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:102440402G>T	ENST00000413150.2	+	4	248	c.193G>T	c.(193-195)Gaa>Taa	p.E65*	MAP4K4_ENST00000456652.1_Nonsense_Mutation_p.E65*|MAP4K4_ENST00000425019.1_Nonsense_Mutation_p.E65*|MAP4K4_ENST00000350198.4_Nonsense_Mutation_p.E65*|MAP4K4_ENST00000324219.4_Nonsense_Mutation_p.E65*|MAP4K4_ENST00000302217.5_Nonsense_Mutation_p.E65*|MAP4K4_ENST00000350878.4_Nonsense_Mutation_p.E45*|MAP4K4_ENST00000347699.4_Nonsense_Mutation_p.E65*	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	65	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGAAGAGGAAGAAATCAAACT	0.343000													6	11					0.0293803	0.0296024	1	1	0
ZNF12	7559	broad.mit.edu	37	7	6730700	6730700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:6730700G>A	ENST00000405858.1	-	5	2414	c.1873C>T	c.(1873-1875)Cga>Tga	p.R625*	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Nonsense_Mutation_p.R551*|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.R587*	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	625					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GAATGAATTCGATGATGTATA	0.413000													20	30					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110895864	110895864	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:110895864C>A	ENST00000265171.5	+	12	2175	c.1730C>A	c.(1729-1731)tCt>tAt	p.S577Y	EGF_ENST00000503392.1_Missense_Mutation_p.S577Y|EGF_ENST00000509793.1_Missense_Mutation_p.S535Y	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	577					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTTAGGAAATCTCTGATTGGA	0.363000													22	36					2.32416e-17	2.88518e-17	1	1	0
PTPN22	26191	broad.mit.edu	37	1	114380878	114380878	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:114380878C>T	ENST00000359785.5	-	13	1279	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	PTPN22_ENST00000525799.1_Missense_Mutation_p.E255K|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Missense_Mutation_p.E138K|PTPN22_ENST00000420377.2_Missense_Mutation_p.E382K|PTPN22_ENST00000528414.1_Missense_Mutation_p.E327K	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	382					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	p.E382>K(1)		NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAATTTAGCTCCAGAAAGTCA	0.383000													14	39					0	0	1	0	0
ZNF101	94039	broad.mit.edu	37	19	19790859	19790859	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:19790859G>A	ENST00000592502.1	+	4	1171	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	ZNF101_ENST00000415784.2_Missense_Mutation_p.R234Q			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AGTTGTTTTCGAAGACATAAA	0.408000													19	41					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9262488	9262488	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:9262488C>T	ENST00000318602.7	-	6	955	c.648G>A	c.(646-648)gaG>gaA	p.E216E		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	216					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	enzyme binding|GTPase activator activity|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)	TGAAAGGGTGCTCTGTCCTTC	0.433000													6	146					0	0	1	0	0
C10orf99	387695	broad.mit.edu	37	10	85933658	85933658	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:85933658C>A	ENST00000372126.3	+	1	165	c.51C>A	c.(49-51)ttC>ttA	p.F17L		NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	17						extracellular region				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						TTCTCTGCTTCTCCATCTTCT	0.542000													30	47					2.85442e-18	3.58263e-18	1	1	0
ERVW-1	30816	broad.mit.edu	37	7	92098432	92098432	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:92098432G>A	ENST00000493463.2	-	1	2187	c.1264C>T	c.(1264-1266)Cga>Tga	p.R422*	ERVW-1_ENST00000603053.1_Nonsense_Mutation_p.R422*|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		422					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						attcgatctcgaatttcttta	0.468000													4	5					0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1994846	1994846	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:1994846C>A	ENST00000268661.7	-	10	1310	c.1216G>T	c.(1216-1218)Gac>Tac	p.D406Y		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	406					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCTACAAGTCTCCCGAGGTC	0.592000													68	210					9.4991e-31	1.30295e-30	1	1	0
C9orf3	84909	broad.mit.edu	37	9	97844983	97844983	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:97844983G>A	ENST00000375315.2	+	15	2446	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K	C9orf3_ENST00000297979.5_Missense_Mutation_p.E717K|C9orf3_ENST00000433691.2_Missense_Mutation_p.E157K|C9orf3_ENST00000425634.2_Missense_Mutation_p.E178K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	816					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGTGGTGGCCGAAATGTTATT	0.502000													8	89					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445050	10445050	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:10445050C>T	ENST00000326756.3	-	3	3341	c.2903G>A	c.(2902-2904)gGc>gAc	p.G968D		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	968					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GAGGACATTGCCTTTGTATTT	0.473000													46	60					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979029	58979029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:58979029C>T	ENST00000361050.3	-	1	1395	c.1310G>A	c.(1309-1311)cGa>cAa	p.R437Q		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	437						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGTGCACTTTCGATGACACTC	0.532000													48	51					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156621325	156621325	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:156621325G>A	ENST00000329117.5	+	7	1477	c.1141G>A	c.(1141-1143)Gtc>Atc	p.V381I	BCAN_ENST00000361588.5_Missense_Mutation_p.V381I|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican						cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAGGCTATCGTCACAGTGAC	0.592000													32	43					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38266470	38266470	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:38266470A>C	ENST00000379705.3	-	4	1757	c.900T>G	c.(898-900)ttT>ttG	p.F300L	TRPC4_ENST00000379673.2_Missense_Mutation_p.F300L|TRPC4_ENST00000355779.2_Missense_Mutation_p.F300L|TRPC4_ENST00000426868.2_Missense_Mutation_p.F300L|TRPC4_ENST00000379681.3_Missense_Mutation_p.F300L|TRPC4_ENST00000358477.2_Missense_Mutation_p.F300L|TRPC4_ENST00000447043.1_Missense_Mutation_p.F300L|TRPC4_ENST00000379679.1_Missense_Mutation_p.F127L|TRPC4_ENST00000338947.5_Missense_Mutation_p.F127L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	300	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GCTGGGCAACAAACTAAACAG	0.438000													6	15					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33359296	33359296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:33359296C>A	ENST00000334528.9	-	1	789	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559047.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000558197.1_Nonsense_Mutation_p.E264*	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	389	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCAGAGACTTCTTTTTTAGAA	0.512000													39	69					1.07637e-12	1.25388e-12	1	1	0
ZCCHC2	54877	broad.mit.edu	37	18	60241659	60241659	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:60241659C>T	ENST00000269499.5	+	13	2763	c.2345C>T	c.(2344-2346)tCg>tTg	p.S782L	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.S461L	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	782					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACTGGAGAATCGGAAAAGCAC	0.473000													27	43					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10248814	10248814	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:10248814G>T	ENST00000418404.3	-	13	1546	c.1383C>A	c.(1381-1383)gtC>gtA	p.V461V	MYH13_ENST00000252172.4_Silent_p.V461V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	461	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CAATGTCCAAGACCCCGATGA	0.493000													76	114					2.22755e-30	3.0523e-30	1	1	0
TRIM46	80128	broad.mit.edu	37	1	155150509	155150509	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:155150509C>T	ENST00000392451.2	+	6	1024	c.941C>T	c.(940-942)tCg>tTg	p.S314L	TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000334634.4_Missense_Mutation_p.S314L|TRIM46_ENST00000368382.1_Missense_Mutation_p.S291L|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.S314L|TRIM46_ENST00000545012.1_Missense_Mutation_p.S188L|TRIM46_ENST00000543729.1_Missense_Mutation_p.S321L|TRIM46_ENST00000368385.4_Missense_Mutation_p.S314L			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	314						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGGAGGTGTCGCAGCTGGTG	0.612000													12	16					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219892675	219892675	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:219892675G>T	ENST00000341552.5	-	13	1991	c.1908C>A	c.(1906-1908)ttC>ttA	p.F636L	CCDC108_ENST00000410037.1_Missense_Mutation_p.F571L|CCDC108_ENST00000441968.1_Missense_Mutation_p.F636L|CCDC108_ENST00000409865.3_Missense_Mutation_p.F625L|CCDC108_ENST00000453220.1_Missense_Mutation_p.F636L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	636						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTCGAAGAAGAACTCGGTCA	0.607000													41	11					1.59361e-14	1.90128e-14	1	1	0
SSPO	23145	broad.mit.edu	37	7	149529936	149529936	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:149529936G>A	ENST00000378016.2	+	0	15353							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGAACCTGCGCTGTCTGGGT	0.677000													23	32					0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95050496	95050496	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:95050496G>T	ENST00000375643.3	-	3	454	c.188C>A	c.(187-189)aCa>aAa	p.T63K	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.T63K|IARS_ENST00000447699.2_Intron	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	63					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ATCTTTAATTGTACCCGCAAG	0.388000													38	28					3.76114e-14	4.46431e-14	1	1	0
RPRD1A	55197	broad.mit.edu	37	18	33613702	33613702	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:33613702C>A	ENST00000399022.4	-	2	421	c.250G>T	c.(250-252)Gtt>Ttt	p.V84F	RPRD1A_ENST00000337059.5_Missense_Mutation_p.V48F|RPRD1A_ENST00000319040.6_Missense_Mutation_p.V84F|RPRD1A_ENST00000590898.1_Missense_Mutation_p.V48F|RPRD1A_ENST00000357384.4_Missense_Mutation_p.V84F|RPRD1A_ENST00000588737.1_Missense_Mutation_p.V48F	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	84	CID.									NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TCCACTATAACTGGTGCAAAA	0.373000													25	40					2.41591e-17	2.99699e-17	1	1	0
SYDE2	84144	broad.mit.edu	37	1	85634733	85634733	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:85634733A>G	ENST00000341460.5	-	5	2896	c.2847T>C	c.(2845-2847)atT>atC	p.I949I		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	949	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTACCTTCTCAATCTCTGGCA	0.378000													28	27					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345783	92345783	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:92345783G>A	ENST00000377067.3	+	3	1040	c.668G>A	c.(667-669)cGc>cAc	p.R223H		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	223						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.R223H(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTGCCCAGCCGCACTTTTCTG	0.522000													23	27					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258602	25258602	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:25258602G>A	ENST00000328086.7	-	5	1718	c.915C>T	c.(913-915)taC>taT	p.Y305Y		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	305					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTTCCTTGACGTAGTTGCTTC	0.453000													30	43					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40900030	40900030	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:40900030C>T	ENST00000309930.5	+	15	1392	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Silent_p.I430I|C7orf10_ENST00000401647.2_Silent_p.I382I	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	430							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ACAGGGCCATCGGGGAGCTGC	0.562000													64	67					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50776508	50776508	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:50776508C>A	ENST00000433963.1	+	13	2340	c.1840C>A	c.(1840-1842)Cta>Ata	p.L614I	USP8_ENST00000396444.3_Missense_Mutation_p.L614I|USP8_ENST00000425032.3_Intron|USP8_ENST00000307179.4_Missense_Mutation_p.L614I			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	614					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AAGTGGAATTCTAAGGACAGG	0.318000													24	31					5.35356e-11	6.11229e-11	1	1	0
HSP90AB1	3326	broad.mit.edu	37	6	44219208	44219208	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:44219208G>T	ENST00000371554.1	+	8	1391	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*	HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.E393*|HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.E393*			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	393					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CATCTCCCGAGAAATGCTCCA	0.453000													14	11					1.52009e-12	1.76538e-12	1	1	0
FAM83B	222584	broad.mit.edu	37	6	54792313	54792313	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:54792313G>A	ENST00000306858.7	+	4	733	c.617G>A	c.(616-618)cGa>cAa	p.R206Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	206										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TAGAATATTCGAGTGCGAACA	0.303000													24	22					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50467859	50467859	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:50467859C>T	ENST00000331340.3	+	8	1249	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	IKZF1_ENST00000343574.5_Missense_Mutation_p.A278V|IKZF1_ENST00000359197.5_Missense_Mutation_p.A323V|IKZF1_ENST00000439701.1_Missense_Mutation_p.A323V|IKZF1_ENST00000357364.4_Missense_Mutation_p.A278V|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000438033.1_Missense_Mutation_p.A278V|IKZF1_ENST00000349824.4_Missense_Mutation_p.A222V|IKZF1_ENST00000346667.4_Missense_Mutation_p.A135V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	365					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AACCACTCGGCCCAGGACAGC	0.697000			"""D,T"""	BCL6	"""ALL, DLBCL"""								3	7					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117150049	117150049	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:117150049G>A	ENST00000310357.3	-	1	149	c.128C>T	c.(127-129)gCt>gTt	p.A43V	GPRC6A_ENST00000368549.3_Missense_Mutation_p.A43V|GPRC6A_ENST00000530250.1_Missense_Mutation_p.A43V	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	43					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTCATGAATAGCAAACAAACC	0.433000													24	35					0	0	1	0	0
LDOC1L	84247	broad.mit.edu	37	22	44893339	44893339	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:44893339C>T	ENST00000341255.3	-	2	607	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	33										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		GTTGGTGAGGCGCAGGGAGGT	0.617000													16	11					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16996405	16996405	+	Missense_Mutation	SNP	C	C	T	rs147343635	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:16996405C>T	ENST00000377833.4	-	32	4903	c.4838G>A	c.(4837-4839)cGa>cAa	p.R1613Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1613	CUB 10.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATTGAGCTCGGAAGCCTCT	0.522000													99	120					0	0	1	0	0
SENP5	205564	broad.mit.edu	37	3	196612627	196612627	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:196612627G>T	ENST00000323460.5	+	2	824	c.575G>T	c.(574-576)aGa>aTa	p.R192I	SENP5_ENST00000445299.2_Missense_Mutation_p.R192I|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	192					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AACCATAAGAGAAAGGGCTTT	0.493000													29	33					1.77063e-15	2.14316e-15	1	1	0
PDE6A	5145	broad.mit.edu	37	5	149310679	149310679	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:149310679C>T	ENST00000255266.5	-	4	889	c.770G>A	c.(769-771)cGa>cAa	p.R257Q		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	257	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GTGGAACTGTCGTTCGATGTC	0.433000													29	29					0	0	1	0	0
ASPA	443	broad.mit.edu	37	17	3397675	3397675	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:3397675C>A	ENST00000263080.2	+	5	824	c.666C>A	c.(664-666)gtC>gtA	p.V222V	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Silent_p.V222V	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	222					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	CCATTGAGGTCTATAAAATTA	0.403000													137	175					3.16226e-57	4.52733e-57	1	1	0
NIN	51199	broad.mit.edu	37	14	51211068	51211068	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:51211068C>T	ENST00000245441.5	-	23	5270	c.5080G>A	c.(5080-5082)Gat>Aat	p.D1694N	NIN_ENST00000530997.2_Missense_Mutation_p.D1694N|NIN_ENST00000382041.3_Missense_Mutation_p.D1694N|NIN_ENST00000382043.4_Missense_Mutation_p.D981N|NIN_ENST00000389868.3_Missense_Mutation_p.D981N|NIN_ENST00000453196.1_Missense_Mutation_p.D1694N|NIN_ENST00000324330.9_Missense_Mutation_p.D1694N	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1694					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCAGAGAGATCGGGACATCTG	0.408000			T	PDGFRB	MPD								42	60					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154886558	154886558	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:154886558A>T	ENST00000460393.1	+	20	2072	c.1952A>T	c.(1951-1953)gAt>gTt	p.D651V	MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Missense_Mutation_p.D651V|MME_ENST00000360490.2_Missense_Mutation_p.D651V|MME_ENST00000493237.1_Missense_Mutation_p.D651V|MME_ENST00000492661.1_Missense_Mutation_p.D651V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	651					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AACATTGCTGATAATGGAGGT	0.279000													14	27					0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7373437	7373437	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:7373437C>T	ENST00000502583.1	-	5	2179	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	CAGE1_ENST00000379918.4_Missense_Mutation_p.E539K|CAGE1_ENST00000512086.1_Missense_Mutation_p.E539K|CAGE1_ENST00000296742.7_Missense_Mutation_p.E403K|CAGE1_ENST00000338150.4_Missense_Mutation_p.E539K	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	539										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TTTTTTACTTCGTTGATTTGC	0.328000													10	12					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20563781	20563781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:20563781C>A	ENST00000202677.7	-	20	2627	c.2620G>T	c.(2620-2622)Gaa>Taa	p.E874*		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTATTCAGTTCTGGGTCTTCC	0.488000													20	35					7.41877e-09	8.19551e-09	1	1	0
TBC1D12	23232	broad.mit.edu	37	10	96291153	96291153	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:96291153C>T	ENST00000225235.4	+	12	2305	c.2195C>T	c.(2194-2196)tCg>tTg	p.S732L	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	732						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GATATCACATCGGAAAAGCTG	0.363000													32	53					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139370681	139370681	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:139370681C>A	ENST00000313050.7	-	1	1460	c.1387G>T	c.(1387-1389)Gaa>Taa	p.E463*	SEC16A_ENST00000371706.3_Nonsense_Mutation_p.E285*|SEC16A_ENST00000290037.6_Nonsense_Mutation_p.E285*|SEC16A_ENST00000431893.2_Nonsense_Mutation_p.E285*	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	285					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGAACAAATTCTAAGTTCTCA	0.562000													46	65					5.34276e-22	6.93765e-22	1	1	0
LGR5	8549	broad.mit.edu	37	12	71978489	71978489	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:71978489C>T	ENST00000266674.5	+	18	3010	c.2699C>T	c.(2698-2700)tCt>tTt	p.S900F	LGR5_ENST00000540815.2_Missense_Mutation_p.S876F|LGR5_ENST00000536515.1_Missense_Mutation_p.S828F			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	900						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CATCTTTCCTCTGTGGCATTT	0.438000													51	65					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263354	39263354	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:39263354C>A	ENST00000280481.7	+	1	2089	c.1873C>A	c.(1873-1875)Ctc>Atc	p.L625I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	625					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCAGGAACTTCTCAGAGGCCT	0.522000													24	28					1.10513e-12	1.28599e-12	1	1	0
OR9A4	130075	broad.mit.edu	37	7	141619053	141619053	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:141619053C>A	ENST00000548136.1	+	1	437	c.378C>A	c.(376-378)gtC>gtA	p.V126V	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	126					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)					ATGTGGCTGTCTGTAACCCTC	0.473000													62	78					7.50695e-29	1.02312e-28	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79024844	79024844	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:79024844G>T	ENST00000446378.2	+	2	287	c.256G>T	c.(256-258)Gaa>Taa	p.E86*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	86						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GATAACCTGGGAAACCAATTC	0.468000													81	101					4.81439e-37	6.72477e-37	1	1	0
APOLD1	81575	broad.mit.edu	37	12	12940432	12940432	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:12940432A>C	ENST00000356591.4	+	2	678	c.593A>C	c.(592-594)aAg>aCg	p.K198T	APOLD1_ENST00000326765.6_Missense_Mutation_p.K229T	NM_030817.2	NP_110444.3	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	229					angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		CTGAAGGCCAAGATTCAGAAA	0.597000													49	71					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161127486	161127486	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:161127486C>T	ENST00000308192.9	+	2	160	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L	PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Silent_p.L33L	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	33	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGGGGCTTCACTGTTCAGTGT	0.458000													42	58					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323146	31323146	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:31323146G>A	ENST00000269197.5	+	12	3334	c.3334G>A	c.(3334-3336)Gca>Aca	p.A1112T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TAAGCTCTTTGCAAAGCATCA	0.532000													31	38					0	0	1	0	0
NDUFAF1	51103	broad.mit.edu	37	15	41679789	41679789	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:41679789G>T	ENST00000260361.4	-	5	1218	c.837C>A	c.(835-837)atC>atA	p.I279I		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	279					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CTATAGAAGAGATCTAAATTT	0.353000													35	35					1.22384e-17	1.52209e-17	1	1	0
SCAND3	114821	broad.mit.edu	37	6	28540923	28540923	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:28540923G>T	ENST00000452236.2	-	4	3360	c.2743C>A	c.(2743-2745)Ctt>Att	p.L915I		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	915					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						tagactaaaagaattatcatg	0.328000													20	17					1.33834e-09	1.4963e-09	1	1	0
ORC6	23594	broad.mit.edu	37	16	46729582	46729582	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:46729582C>T	ENST00000566860.1	+	4	698	c.411C>T	c.(409-411)gtC>gtT	p.V137V	ORC6_ENST00000575571.1_3'UTR|ORC6_ENST00000568364.2_Intron|ORC6_ENST00000219097.2_Silent_p.V186V			Q9Y5N6	ORC6_HUMAN	origin recognition complex, subunit 6	186					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						GACAGCAGGTCGACAGTAAGT	0.358000													19	15					0	0	1	0	0
EDNRA	1909	broad.mit.edu	37	4	148463676	148463676	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:148463676C>T	ENST00000324300.5	+	8	1705	c.1190C>T	c.(1189-1191)tCg>tTg	p.S397L	EDNRA_ENST00000506066.1_Missense_Mutation_p.S288L|EDNRA_ENST00000511804.1_Missense_Mutation_p.S172L|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000358556.4_Missense_Mutation_p.S288L	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	397					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CTGATGACCTCGGTCCCCATG	0.552000													35	53					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5344611	5344611	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:5344611G>T	ENST00000328813.2	-	1	971	c.917C>A	c.(916-918)tCt>tAt	p.S306Y	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTATGTTTAGATAAAAGGCG	0.368000													24	33					3.73988e-18	4.68078e-18	1	1	0
SPAM1	6677	broad.mit.edu	37	7	123594195	123594195	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:123594195G>T	ENST00000340011.5	+	3	928	c.571G>T	c.(571-573)Gaa>Taa	p.E191*	SPAM1_ENST00000439500.1_Nonsense_Mutation_p.E191*|SPAM1_ENST00000402183.2_Nonsense_Mutation_p.E191*|SPAM1_ENST00000460182.1_Nonsense_Mutation_p.E191*|SPAM1_ENST00000223028.7_Nonsense_Mutation_p.E191*	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	191					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGCAAAACAAGAATTTGAAAA	0.378000													31	37					1.88708e-17	2.34369e-17	1	1	0
ALDH8A1	64577	broad.mit.edu	37	6	135239772	135239772	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:135239772A>G	ENST00000265605.2	-	7	1313	c.1245T>C	c.(1243-1245)gtT>gtC	p.V415V	ALDH8A1_ENST00000367845.2_Silent_p.V361V|ALDH8A1_ENST00000367847.2_Silent_p.V365V	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	415					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GCCCATACTTAACGTTGTTGG	0.552000													38	36					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17472817	17472817	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:17472817C>A	ENST00000400588.1	-	2	531	c.424G>T	c.(424-426)Gag>Tag	p.E142*	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	142	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGGACCCACTCATTCATGTCC	0.522000													152	166					9.91784e-70	1.42681e-69	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129813183	129813183	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:129813183C>A	ENST00000421865.2	+	57	8085	c.8036C>A	c.(8035-8037)cCt>cAt	p.P2679H	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2679	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATATTCCTCCTTTTGAAGGC	0.378000													24	40					3.6726e-16	4.49736e-16	1	1	0
PLIN3	10226	broad.mit.edu	37	19	4839238	4839238	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:4839238C>T	ENST00000221957.4	-	8	1447	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E	PLIN3_ENST00000592528.1_Missense_Mutation_p.G412E|PLIN3_ENST00000585479.1_Missense_Mutation_p.G423E	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	424					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CTCAGTGATTCCAGGGGCAAA	0.622000													59	80					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186314810	186314810	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:186314810T>C	ENST00000367478.4	-	24	3411	c.3115A>G	c.(3115-3117)Aca>Gca	p.T1039A		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTAGAAAGTGTTTTCTTCAAT	0.348000			T	NTRK1	papillary thyroid								22	35					0	0	1	0	0
EFCAB14	9813	broad.mit.edu	37	1	47157548	47157548	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:47157548T>G	ENST00000371933.3	-	5	1617	c.641A>C	c.(640-642)aAa>aCa	p.K214T	EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14_ENST00000544071.1_Missense_Mutation_p.K214T|EFCAB14_ENST00000484461.1_5'UTR	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		ATCCACAGTTTTCTGTAGTGC	0.413000													30	24					0	0	1	0	0
METAP2	10988	broad.mit.edu	37	12	95906667	95906667	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:95906667T>G	ENST00000323666.5	+	10	1388	c.1159T>G	c.(1159-1161)Ttt>Gtt	p.F387V	METAP2_ENST00000546753.1_Missense_Mutation_p.F364V|METAP2_ENST00000550777.1_Missense_Mutation_p.F351V|METAP2_ENST00000551840.1_Missense_Mutation_p.F386V|METAP2_ENST00000261220.9_Missense_Mutation_p.F364V	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	387					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	CATGAAAAATTTTGATGTTGG	0.343000													18	26					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141607884	141607884	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:141607884G>T	ENST00000389484.3	-	29	5697	c.4726C>A	c.(4726-4728)Ctt>Att	p.L1576I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1576					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L1576F(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCATAAAGAAGAAATTTTTTC	0.303000										TSP Lung(27;0.18)			7	12					0.00307968	0.00313733	1	1	0
MACF1	23499	broad.mit.edu	37	1	39806546	39806546	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:39806546A>C	ENST00000564288.1	+	40	11279	c.10502A>C	c.(10501-10503)aAa>aCa	p.K3501T	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.K3538T|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.K3506T|MACF1_ENST00000289893.4_Missense_Mutation_p.K1941T|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3506					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTTGGCAATAAAAATCTTATT	0.393000													23	22					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197069681	197069681	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:197069681T>C	ENST00000367409.4	-	18	8956	c.8700A>G	c.(8698-8700)aaA>aaG	p.K2900K	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2900					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTCTTTGATGTTTTGCAGACA	0.328000													19	23					0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94293001	94293001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:94293001C>T	ENST00000482108.1	+	2	612	c.133C>T	c.(133-135)Cga>Tga	p.R45*	PEG10_ENST00000488574.1_Nonsense_Mutation_p.R45*	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	45					apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CACCACCCTTCGAGAGCAAGT	0.557000													8	9					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102171937	102171937	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:102171937T>G	ENST00000306176.1	+	3	429	c.329T>G	c.(328-330)tTt>tGt	p.F110C	ZPLD1_ENST00000491959.1_Missense_Mutation_p.F94C|ZPLD1_ENST00000466937.1_Missense_Mutation_p.F94C	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	94	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GTGGTCATTTTTATCATCAAT	0.463000													21	25					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476851	20476851	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:20476851C>T	ENST00000573854.1	+	3	304	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F	ACSM2A_ENST00000396104.2_Missense_Mutation_p.L64F|ACSM2A_ENST00000417235.2_5'UTR|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.L64F|ACSM2A_ENST00000219054.6_Missense_Mutation_p.L64F|ACSM2A_ENST00000575690.1_Missense_Mutation_p.L64F	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	64					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGGCAAGCGACTCCCAAGCCC	0.522000													17	15					0	0	1	0	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81444993	81444993	+	RNA	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:81444993A>C	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							CAGTACAACAATTTTCGGGCT	0.612000													4	6					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123350857	123350857	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:123350857T>C	ENST00000296513.2	+	13	1879	c.1694T>C	c.(1693-1695)aTt>aCt	p.I565T	ADAD1_ENST00000388725.2_Missense_Mutation_p.I547T|ADAD1_ENST00000388724.2_Missense_Mutation_p.I554T	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	565	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGATCCTGGATTGTGAAATCT	0.333000													43	45					0	0	1	0	0
GGCX	2677	broad.mit.edu	37	2	85778163	85778163	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:85778163C>T	ENST00000233838.4	-	13	1853	c.1773G>A	c.(1771-1773)acG>acA	p.T591T	GGCX_ENST00000430215.3_Silent_p.T534T	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	TAGGTGATGTCGTATACACCT	0.453000													53	56					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9050016	9050016	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9050016A>G	ENST00000397910.4	-	5	31818	c.31615T>C	c.(31615-31617)Tcc>Ccc	p.S10539P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10541	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						GCCAATGAGGATGTCGTTTCT	0.493000													145	186					0	0	1	0	0
MANEAL	149175	broad.mit.edu	37	1	38265393	38265393	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:38265393G>A	ENST00000373045.6	+	4	1273	c.892G>A	c.(892-894)Gat>Aat	p.D298N	MANEAL_ENST00000329006.5_Missense_Mutation_p.D76N|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000397631.3_Intron|MANEAL_ENST00000525897.1_Missense_Mutation_p.D104N	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	298						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CACGCCCTACGATGGGGTCTT	0.582000													56	72					0	0	1	0	0
CEP120	153241	broad.mit.edu	37	5	122725784	122725784	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:122725784C>A	ENST00000306467.5	-	8	1393	c.1089G>T	c.(1087-1089)aaG>aaT	p.K363N	CEP120_ENST00000328236.5_Missense_Mutation_p.K363N|CEP120_ENST00000306481.6_Missense_Mutation_p.K337N			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	363						centrosome		p.K363N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						AAACTTTCTTCTTTGAATGCT	0.363000													19	28					5.03518e-11	5.75249e-11	1	1	0
CHST1	8534	broad.mit.edu	37	11	45672083	45672083	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:45672083C>T	ENST00000308064.2	-	4	1061	c.391G>A	c.(391-393)Gac>Aac	p.D131N		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	131					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AAGTAGAGGTCGCAGTCGTAG	0.692000													62	69					0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69419713	69419713	+	Missense_Mutation	SNP	G	G	A	rs140805163		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:69419713G>A	ENST00000333026.3	+	3	348	c.248G>A	c.(247-249)cGa>cAa	p.R83Q		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	83					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						AAGTATTTCCGAAATTACTTC	0.542000													21	3					0	0	1	0	0
C21orf91	54149	broad.mit.edu	37	21	19169380	19169380	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:19169380G>A	ENST00000284881.4	-	3	273	c.183C>T	c.(181-183)tgC>tgT	p.C61C	C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400559.3_Silent_p.C61C|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400558.3_Silent_p.C61C	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	61										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		ATTTTTCAAAGCAGTCTTTAT	0.333000													25	29					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12397410	12397410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:12397410C>A	ENST00000261349.4	-	2	311	c.235G>T	c.(235-237)Gaa>Taa	p.E79*	LRP6_ENST00000543091.1_Nonsense_Mutation_p.E79*	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	79	Beta-propeller 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.E79*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTGTTAAATTCTGTTCGTTTA	0.448000													33	49					2.08457e-15	2.51687e-15	1	1	0
ZNF776	284309	broad.mit.edu	37	19	58265468	58265468	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:58265468G>A	ENST00000317178.5	+	3	1233	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		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;0.0256)		TGAATGTGACGAATGTGGGAA	0.433000													50	66					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108363112	108363112	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:108363112G>A	ENST00000361582.3	+	14	1473	c.1243G>A	c.(1243-1245)Gct>Act	p.A415T	DZIP3_ENST00000463306.1_Missense_Mutation_p.A415T	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	415					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATTTGATGAGGCTATGCCACC	0.353000													38	42					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658154	46658154	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:46658154G>T	ENST00000253255.5	-	1	1065	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	356	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GACCCGTCCAGAATCAGCTGC	0.557000													91	88					1.42954e-44	2.02436e-44	1	1	0
C5orf58	133874	broad.mit.edu	37	5	169662010	169662010	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:169662010G>A	ENST00000521850.1	+	2	1782	c.93G>A	c.(91-93)aaG>aaA	p.K31K	C5orf58_ENST00000593851.1_Silent_p.K31K|C5orf58_ENST00000517575.1_3'UTR			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	31										large_intestine(1)|lung(4)|urinary_tract(1)	6						CTGATCATAAGCTAAATGTGG	0.264000													7	4					0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114874078	114874078	+	Missense_Mutation	SNP	G	G	A	rs145780084		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:114874078G>A	ENST00000374270.3	-	8	1199	c.1027C>T	c.(1027-1029)Cgt>Tgt	p.R343C	SUSD1_ENST00000374263.3_Missense_Mutation_p.R343C|SUSD1_ENST00000374264.2_Missense_Mutation_p.R343C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	343						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTCTCCTCACGAACTGATTCC	0.498000													29	37					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114462409	114462409	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:114462409G>T	ENST00000513154.1	-	10	2268	c.1942C>A	c.(1942-1944)Ctc>Atc	p.L648I	TRIM36_ENST00000514154.1_Missense_Mutation_p.L505I|TRIM36_ENST00000282369.3_Missense_Mutation_p.L660I			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	660	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)		GGCATAGGGAGAACTCTATTT	0.353000													15	28					0.000308642	0.00031825	1	1	0
PFKFB3	5209	broad.mit.edu	37	10	6263484	6263484	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:6263484C>T	ENST00000379775.4	+	9	1302	c.972C>T	c.(970-972)atC>atT	p.I324I	PFKFB3_ENST00000540253.1_Silent_p.I338I|PFKFB3_ENST00000379785.1_Silent_p.I324I|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379782.3_Silent_p.I324I|PFKFB3_ENST00000317350.4_Silent_p.I324I|PFKFB3_ENST00000360521.2_Silent_p.I324I|PFKFB3_ENST00000379789.4_Silent_p.I304I	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	324	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	p.I324I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TCAATGAGATCGACGCGGTGA	0.662000													23	20					0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	115024852	115024852	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:115024852T>C	ENST00000334318.6	-	6	658	c.472A>G	c.(472-474)Agt>Ggt	p.S158G	PTBP3_ENST00000487997.1_5'UTR|PTBP3_ENST00000374255.2_Missense_Mutation_p.S155G|PTBP3_ENST00000343327.2_Missense_Mutation_p.S60G|PTBP3_ENST00000374257.1_Missense_Mutation_p.S127G|PTBP3_ENST00000458258.1_Missense_Mutation_p.S161G	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	155					anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding										TGGACGGCACTGACAGCCTGC	0.453000													20	26					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551363	100551363	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:100551363G>A	ENST00000319509.7	+	1	114	c.114G>A	c.(112-114)ccG>ccA	p.P38P						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAGACATCCCGACCACAAGCC	0.507000													53	62					0	0	1	0	0
TGDS	23483	broad.mit.edu	37	13	95230273	95230273	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:95230273C>A	ENST00000261296.5	-	9	931	c.811G>T	c.(811-813)Gaa>Taa	p.E271*		NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	271					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TGTATTAGTTCTTTGGCAAGC	0.353000													23	21					0.00047179	0.000485725	1	1	0
PAX6	5080	broad.mit.edu	37	11	31811520	31811520	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:31811520C>A	ENST00000419022.1	-	14	1741	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	PAX6_ENST00000379111.2_Nonsense_Mutation_p.E411*|PAX6_ENST00000379115.4_Nonsense_Mutation_p.E425*|PAX6_ENST00000379132.3_Nonsense_Mutation_p.E411*|PAX6_ENST00000379107.2_Nonsense_Mutation_p.E425*|PAX6_ENST00000241001.8_Nonsense_Mutation_p.E411*|PAX6_ENST00000379129.2_Nonsense_Mutation_p.E425*|PAX6_ENST00000379123.5_Nonsense_Mutation_p.E411*	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	411					blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					ATATCAGGTTCACTTCCGGGA	0.373000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				15	12					3.27435e-08	3.58418e-08	1	1	0
C5orf20	140947	broad.mit.edu	37	5	134782764	134782764	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:134782764G>A	ENST00000503143.2	-	1	274	c.35C>T	c.(34-36)tCg>tTg	p.S12L	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	12						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGGCTTCTCGAGTTCTGTAT	0.542000													18	21					0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11943091	11943091	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:11943091G>A	ENST00000256720.2	+	14	1930	c.1837G>A	c.(1837-1839)Gca>Aca	p.A613T	LPIN1_ENST00000404113.2_Missense_Mutation_p.A114T|LPIN1_ENST00000396099.1_Missense_Mutation_p.A655T|LPIN1_ENST00000449576.2_Missense_Mutation_p.A698T|LPIN1_ENST00000425416.2_Missense_Mutation_p.A619T|LPIN1_ENST00000396097.1_Missense_Mutation_p.A343T	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	613					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GCCATCAAACGCAGGCCACCT	0.532000													67	89					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97531611	97531611	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:97531611T>C	ENST00000305476.5	-	4	446	c.314A>G	c.(313-315)aAc>aGc	p.N105S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	105	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CACCTGGTTGTTCTTCCCTTT	0.592000													22	41					0	0	1	0	0
C1orf172	126695	broad.mit.edu	37	1	27278385	27278385	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:27278385C>T	ENST00000320567.5	-	2	575	c.487G>A	c.(487-489)Gat>Aat	p.D163N		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	163										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTTAACATCGGGGTAGCTG	0.657000													29	36					0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97791681	97791681	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:97791681T>C	ENST00000344386.3	+	9	1049	c.885T>C	c.(883-885)ttT>ttC	p.F295F	ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.F374F|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000371198.2_3'UTR	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	295										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		AGACAGAATTTGCTTTAGCTG	0.393000													43	52					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536086	69536086	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:69536086T>A	ENST00000338206.5	-	1	260	c.251A>T	c.(250-252)aAt>aTt	p.N84I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	84					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TTCCAAATAATTTTTAGTTAA	0.308000													75	78					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139265101	139265101	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:139265101G>A	ENST00000450536.2	-	6	1379	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	REPS1_ENST00000415951.2_Missense_Mutation_p.R269C|REPS1_ENST00000258062.5_Missense_Mutation_p.R269C|REPS1_ENST00000409812.2_Missense_Mutation_p.R269C|REPS1_ENST00000367663.4_Missense_Mutation_p.R269C			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	269						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GATTGCCTACGAATTTCAATG	0.363000													24	26					0	0	1	0	0
CCM2L	140706	broad.mit.edu	37	20	30610484	30610484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:30610484G>A	ENST00000300415.8	+	6	968	c.955G>A	c.(955-957)Gca>Aca	p.A319T	CCM2L_ENST00000262659.8_Missense_Mutation_p.A319T					cerebral cavernous malformation 2-like																		GGAGTCCTGCGCACTCATCTG	0.562000													50	53					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6653796	6653796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:6653796G>A	ENST00000299441.3	-	6	3358	c.2947C>T	c.(2947-2949)Cga>Tga	p.R983*	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	983	Cadherin 9.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCGTAGTCGAAAGTGGCTG	0.662000													4	4					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86807870	86807870	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:86807870G>A	ENST00000441037.2	+	10	1425	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	AGBL1_ENST00000421325.2_Missense_Mutation_p.E444K|AGBL1_ENST00000389298.3_Missense_Mutation_p.E175K	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	444					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TAGGACTAGAGAAGTTGTCAA	0.473000													57	70					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17080620	17080620	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:17080620G>A	ENST00000395811.5	+	21	2942	c.2853G>A	c.(2851-2853)gcG>gcA	p.A951A	MPRIP_ENST00000395804.3_Silent_p.A951A|MPRIP_ENST00000444976.1_Silent_p.A913A|MPRIP_ENST00000341712.4_Silent_p.A951A|RP11-45M22.3_ENST00000584203.1_RNA	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	951						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TCAGCATCGCGAAGGCTAAGG	0.522000													49	61					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74936537	74936537	+	Silent	SNP	C	C	T	rs141206366		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:74936537C>T	ENST00000569840.2	+	14	2212	c.1638C>T	c.(1636-1638)atC>atT	p.I546I	MGAT5B_ENST00000301618.4_Silent_p.I544I|MGAT5B_ENST00000428789.2_Silent_p.I555I	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	546						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGAGGCCATCGCCAATGGTT	0.652000													46	78					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100492234	100492234	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:100492234T>C	ENST00000279907.7	-	5	636	c.424A>G	c.(424-426)Aat>Gat	p.N142D	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.N142D	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	142										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AATGATGCATTGAAGGCTTTT	0.388000													13	53					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154218684	154218684	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:154218684G>A	ENST00000428931.1	+	11	1014	c.847G>A	c.(847-849)Gac>Aac	p.D283N	UBAP2L_ENST00000343815.6_Missense_Mutation_p.D283N|UBAP2L_ENST00000361546.2_Missense_Mutation_p.D283N|UBAP2L_ENST00000271877.7_Missense_Mutation_p.D294N	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	283					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATTAGAATTGACCTTGCTGT	0.463000													34	39					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88885439	88885439	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:88885439C>A	ENST00000303236.3	-	9	1871	c.1570G>T	c.(1570-1572)Gaa>Taa	p.E524*	EIF2AK3_ENST00000419748.1_Nonsense_Mutation_p.E373*	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	524					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GCAACTATTTCTTTCCACCAG	0.403000													39	28					3.76114e-14	4.46431e-14	1	1	0
CAMK2A	815	broad.mit.edu	37	5	149669141	149669141	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:149669141G>A	ENST00000348628.6	-	1	713	c.48C>T	c.(46-48)ttC>ttT	p.F16F	CAMK2A_ENST00000398376.3_Silent_p.F16F	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	16	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAATTCCTCGAAGAGCTGGT	0.632000													38	35					0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7327107	7327107	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:7327107C>A	ENST00000502583.1	-	14	3068	c.2504G>T	c.(2503-2505)aGa>aTa	p.R835I	CAGE1_ENST00000379918.4_Missense_Mutation_p.R813I|CAGE1_ENST00000512086.1_Missense_Mutation_p.R773I|SSR1_ENST00000488834.1_Intron|CAGE1_ENST00000296742.7_Missense_Mutation_p.R637I	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	773										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TAAATCATTTCTATTTTCTTT	0.343000													33	57					2.08457e-15	2.51687e-15	1	1	0
C1orf110	339512	broad.mit.edu	37	1	162824634	162824634	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:162824634A>C	ENST00000367910.1	-	4	950	c.830T>G	c.(829-831)tTt>tGt	p.F277C	C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.2_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	277										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						CCCATGCCCAAATATCTCTCC	0.488000													42	40					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134987506	134987506	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:134987506C>A	ENST00000535938.1	+	5	576	c.409C>A	c.(409-411)Cat>Aat	p.H137N	SAGE1_ENST00000324447.3_Missense_Mutation_p.H137N|SAGE1_ENST00000370709.3_Missense_Mutation_p.H137N|SAGE1_ENST00000537770.1_Missense_Mutation_p.H137N	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	137										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ACAGCTTGTTCATATGGCTGC	0.443000													54	4					1.17673e-23	1.55027e-23	1	1	0
SYT11	23208	broad.mit.edu	37	1	155851155	155851155	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:155851155C>T	ENST00000368324.4	+	4	1405	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	SYT11_ENST00000539162.1_Silent_p.F77F	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	384	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TTATCGACTTCGATCGCACCA	0.537000													166	197					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308771	248308771	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:248308771C>A	ENST00000366476.1	+	1	322	c.322C>A	c.(322-324)Ctt>Att	p.L108I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TGTATCACTGCTTGGCTCCGA	0.448000													159	201					2.44297e-73	3.51643e-73	1	1	0
PPP1R2P1	100507444	broad.mit.edu	37	6	32847121	32847121	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:32847121C>A	ENST00000420261.1	-	0	504																											TCGTGTAGGTCTTTTGAAATT	0.373000													9	12					3.09899e-07	3.35435e-07	1	1	0
IGF2BP3	10643	broad.mit.edu	37	7	23353258	23353258	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:23353258A>C	ENST00000258729.3	-	13	1766	c.1410T>G	c.(1408-1410)atT>atG	p.I470M		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	470	KH 3.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TTTTTCCATAAATTCTTCCCT	0.378000													11	25					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31762702	31762702	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:31762702G>A	ENST00000543095.2	-	36	6134	c.5950C>T	c.(5950-5952)Ctc>Ttc	p.L1984F	HEATR5A_ENST00000439727.1_Missense_Mutation_p.L1691F|HEATR5A_ENST00000389961.3_Missense_Mutation_p.L1978F|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439348.1_Missense_Mutation_p.L1903F	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1978							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ATTTGCATGAGATTTTGTAGA	0.403000													68	75					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215890456	215890456	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:215890456G>T	ENST00000272895.7	-	11	1447	c.1228C>A	c.(1228-1230)Ctt>Att	p.L410I	ABCA12_ENST00000389661.4_Missense_Mutation_p.L92I|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	410					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCATTGCGAAGAAAAGATTTT	0.323000													22	5					9.86323e-18	1.22813e-17	1	1	0
CCDC87	55231	broad.mit.edu	37	11	66357943	66357943	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:66357943G>A	ENST00000333861.3	-	1	2611	c.2544C>T	c.(2542-2544)agC>agT	p.S848S		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	848										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCTACTAAAGGCTGGCTGCTG	0.582000													23	145					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22805423	22805423	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:22805423G>A	ENST00000361524.3	-	4	2607	c.2459C>T	c.(2458-2460)gCg>gTg	p.A820V	ZNF521_ENST00000538137.2_Missense_Mutation_p.A820V|ZNF521_ENST00000584787.1_Missense_Mutation_p.A600V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	820					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAAAATGATCGCATGGAAGGC	0.463000			T	PAX5	ALL								51	63					0	0	1	0	0
CDK6	1021	broad.mit.edu	37	7	92355089	92355089	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:92355089G>T	ENST00000265734.4	-	4	799	c.388C>A	c.(388-390)Ctc>Atc	p.L130I	CDK6_ENST00000424848.2_Missense_Mutation_p.L130I	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	130	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGACCTCGGAGAAGCTGAAAC	0.418000			T	MLLT10	ALL								7	109					0.00198382	0.00202405	1	1	0
SULT1B1	27284	broad.mit.edu	37	4	70592899	70592899	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:70592899C>A	ENST00000310613.3	-	8	1095	c.798G>T	c.(796-798)aaG>aaT	p.K266N		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TGAAGTAATTCTTCCAGTCAC	0.343000													21	33					6.33239e-15	7.60086e-15	1	1	0
PODN	127435	broad.mit.edu	37	1	53546486	53546486	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:53546486G>A	ENST00000371500.3	+	11	2027	c.1686G>A	c.(1684-1686)aaG>aaA	p.K562K	PODN_ENST00000395871.2_Silent_p.K439K|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Silent_p.K581K	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	533					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGAACAACAAGATTAGTGCGG	0.617000													27	40					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731862	92731862	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:92731862C>T	ENST00000379958.2	-	3	3818	c.3549G>A	c.(3547-3549)ccG>ccA	p.P1183P		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1183						cytoplasm		p.P1183P(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)			TTTTTGACTTCGGATACAATC	0.378000													65	91					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46765805	46765805	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:46765805C>T	ENST00000529230.1	-	44	5913	c.5867G>A	c.(5866-5868)cGa>cAa	p.R1956Q	CKAP5_ENST00000354558.3_Missense_Mutation_p.R1896Q|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1896Q|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1963Q			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1956					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CAAAGGAGGTCGGTCATCTTG	0.512000													30	38					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324361	161324361	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:161324361A>C	ENST00000428797.2	+	11	1659	c.1304A>C	c.(1303-1305)aAc>aCc	p.N435T	GABRA1_ENST00000023897.6_Missense_Mutation_p.N435T|GABRA1_ENST00000393943.4_Missense_Mutation_p.N435T|GABRA1_ENST00000444819.1_Missense_Mutation_p.N435T|GABRA1_ENST00000437025.2_Missense_Mutation_p.N435T|GABRA1_ENST00000420560.1_Missense_Mutation_p.N435T	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	435					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GGAATCTTTAACTTAGTCTAC	0.428000													73	72					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33445453	33445453	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:33445453A>C	ENST00000265112.3	+	2	392	c.81A>C	c.(79-81)caA>caC	p.Q27H	TARS_ENST00000541634.1_5'UTR|TARS_ENST00000502553.1_Missense_Mutation_p.Q27H|TARS_ENST00000455217.2_Missense_Mutation_p.Q27H|TARS_ENST00000414361.2_5'UTR	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	27					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AAGAGAAGCAAAAGGAAGGAG	0.423000													8	23					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68156560	68156560	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:68156560G>A	ENST00000349223.5	+	2	998	c.774G>A	c.(772-774)agG>agA	p.R258R	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.R258R|NFATC3_ENST00000575270.1_Silent_p.R258R|NFATC3_ENST00000329524.4_Silent_p.R258R	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	258	3 X SP repeats.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TGAGCCCCAGGCCAGCCTCAG	0.547000													40	46					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131623791	131623791	+	Missense_Mutation	SNP	G	G	A	rs143670024	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:131623791G>A	ENST00000261654.5	+	25	3167	c.2608G>A	c.(2608-2610)Gac>Aac	p.D870N	GPR133_ENST00000535015.1_Missense_Mutation_p.D902N|GPR133_ENST00000376682.4_Missense_Mutation_p.D556N|GPR133_ENST00000543617.1_Missense_Mutation_p.D389N|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	870					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCACCGCGTCGACCTGTCAGC	0.617000													17	12					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140792860	140792860	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140792860C>T	ENST00000398610.2	+	1	118	c.118C>T	c.(118-120)Cct>Tct	p.P40S	PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACTCAATTCCTGAGGAATT	0.582000											OREG0016862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	70					0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48164483	48164483	+	Missense_Mutation	SNP	C	C	T	rs144185728		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:48164483C>T	ENST00000244043.4	-	3	301	c.272G>A	c.(271-273)cGc>cAc	p.R91H	PTGIS_ENST00000478971.1_Intron	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	91					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GAGCCTGGTGCGAGGCTCCCA	0.557000													80	87					0	0	1	0	0
APOA5	116519	broad.mit.edu	37	11	116660879	116660879	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:116660879G>T	ENST00000542499.1	-	4	1138	c.1066C>A	c.(1066-1068)Cat>Aat	p.H356N	APOA5_ENST00000227665.4_Missense_Mutation_p.H356N	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	356					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CCCTGGTCATGAAGGCTGTGA	0.597000													20	21					1.50039e-11	1.7204e-11	1	1	0
OR5B3	441608	broad.mit.edu	37	11	58170301	58170301	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:58170301C>T	ENST00000309403.2	-	1	581	c.582G>A	c.(580-582)gaG>gaA	p.E194E		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAAGAACAAGCTCGCTAATAT	0.363000													37	53					0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117666448	117666448	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:117666448G>A	ENST00000223795.2	-	4	581	c.468C>T	c.(466-468)gtC>gtT	p.V156V	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	156					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	p.V156V(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						ACTTCAGATCGACAGAATTAT	0.428000													43	60					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24952620	24952620	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:24952620G>A	ENST00000405141.1	+	18	3848	c.3137G>A	c.(3136-3138)aGa>aAa	p.R1046K	NCOA1_ENST00000407230.1_Missense_Mutation_p.R895K|NCOA1_ENST00000406961.1_Missense_Mutation_p.R1046K|NCOA1_ENST00000395856.3_Missense_Mutation_p.R1046K|NCOA1_ENST00000348332.3_Missense_Mutation_p.R1046K|NCOA1_ENST00000288599.5_Missense_Mutation_p.R1046K|NCOA1_ENST00000538539.1_Missense_Mutation_p.R1046K			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1046									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTCTAAACAGACCTCCGGCT	0.498000			T	PAX3	alveolar rhadomyosarcoma								48	105					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167034804	167034804	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:167034804C>T	ENST00000392766.2	-	14	1523	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	ZBBX_ENST00000469220.1_5'UTR|ZBBX_ENST00000307529.5_Missense_Mutation_p.E395K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E366K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E395K|ZBBX_ENST00000392767.2_Missense_Mutation_p.E395K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	395						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCATCCAGTTCGACTATCTTT	0.338000													14	25					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89053747	89053747	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:89053747C>A	ENST00000286614.6	-	10	2047	c.1766G>T	c.(1765-1767)aGg>aTg	p.R589M		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	589					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						TGTTCCTTTCCTCTTGAACTG	0.453000													49	60					8.00217e-19	1.00959e-18	1	1	0
ATP8A2	51761	broad.mit.edu	37	13	26125475	26125475	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:26125475G>T	ENST00000381655.2	+	11	1033		c.e11-1		ATP8A2_ENST00000255283.8_Splice_Site	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2						ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTGTTGTGTAGAATTCAACCA	0.453000													28	48					1.42536e-11	1.63612e-11	1	1	0
DCK	1633	broad.mit.edu	37	4	71891572	71891572	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:71891572G>A	ENST00000286648.5	+	5	986	c.589G>A	c.(589-591)Gag>Aag	p.E197K	DCK_ENST00000504952.1_Missense_Mutation_p.E197K|DCK_ENST00000504730.1_Intron	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	197					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	AAGAAATGAAGAGCAAGGCAT	0.348000													64	73					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50098824	50098824	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:50098824C>T	ENST00000418929.2	+	4	1244	c.1232C>T	c.(1231-1233)tCg>tTg	p.S411L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	156	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCACCCCGTTCGACCGCCACC	0.677000													7	9					0	0	1	0	0
QRSL1	55278	broad.mit.edu	37	6	107100203	107100203	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:107100203C>T	ENST00000369046.4	+	6	781	c.677C>T	c.(676-678)tCg>tTg	p.S226L	QRSL1_ENST00000369044.1_Missense_Mutation_p.S226L	NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	226					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor	p.S226L(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		CTGGTGAATTCGATGGATGTG	0.438000													41	51					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237982452	237982452	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:237982452C>A	ENST00000366574.2	+	101	14867	c.14550C>A	c.(14548-14550)ttC>ttA	p.F4850L	RYR2_ENST00000542537.1_Missense_Mutation_p.F4834L|RYR2_ENST00000360064.6_Missense_Mutation_p.F4856L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4850					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)			ACATCACTTTCTTCTTCTTTG	0.418000													36	30					3.33393e-15	4.01714e-15	1	1	0
LRP1	4035	broad.mit.edu	37	12	57548344	57548344	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:57548344G>A	ENST00000243077.3	+	8	1553	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	LRP1_ENST00000554174.1_Missense_Mutation_p.D363N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	363					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.D363N(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAAGCTCGTCGACAGCAAGAT	0.522000													19	18					0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1036492	1036492	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:1036492C>T	ENST00000296849.5	+	9	1009	c.780C>T	c.(778-780)ttC>ttT	p.F260F	NKD2_ENST00000274150.4_Silent_p.F260F|NKD2_ENST00000537972.1_Silent_p.F260F	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	260					exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CGTCCAGATTCGGCCCTGGTA	0.657000													25	23					0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144194606	144194606	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:144194606C>A	ENST00000295095.6	+	8	865	c.698C>A	c.(697-699)tCt>tAt	p.S233Y	AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000549032.1_RNA|AC096558.1_ENST00000442794.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	233					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CACAGAAAATCTTTAAGTGAG	0.323000													20	20					6.33239e-15	7.60086e-15	1	1	0
DST	667	broad.mit.edu	37	6	56422132	56422132	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:56422132T>G	ENST00000370754.5	-	59	14531	c.14532A>C	c.(14530-14532)caA>caC	p.Q4844H	DST_ENST00000244364.6_Missense_Mutation_p.Q2252H|DST_ENST00000446842.2_Missense_Mutation_p.Q4340H|DST_ENST00000421834.2_Missense_Mutation_p.Q2578H|DST_ENST00000370788.2_Missense_Mutation_p.Q2578H|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.Q4664H|DST_ENST00000370769.4_Missense_Mutation_p.Q4666H			Q03001	DYST_HUMAN	dystonin	4664					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTGCTGCCTTTGTGTGTTTA	0.393000													62	62					0	0	1	0	0
C4orf45	152940	broad.mit.edu	37	4	159836472	159836472	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:159836472C>A	ENST00000434826.2	-	4	480	c.396G>T	c.(394-396)caG>caT	p.Q132H	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	132										large_intestine(2)|lung(3)	5						AAGCGCGACTCTGTTTTCCTT	0.433000													8	12					0.00307968	0.00313733	1	1	0
CHRND	1144	broad.mit.edu	37	2	233394689	233394689	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:233394689C>A	ENST00000536614.1	+	6	578	c.550C>A	c.(550-552)Caa>Aaa	p.Q184K	CHRND_ENST00000543200.1_Silent_p.V205V|CHRND_ENST00000258385.3_Silent_p.V220V|CHRND_ENST00000457943.2_Intron			Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	498					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CGGCCAGGGTCAACGTGGACC	0.637000													37	2					6.97489e-18	8.70107e-18	1	1	0
ZNFX1	57169	broad.mit.edu	37	20	47874004	47874004	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:47874004A>G	ENST00000396105.1	-	8	2860	c.2614T>C	c.(2614-2616)Tgt>Cgt	p.C872R	ZNFX1_ENST00000371754.4_Missense_Mutation_p.C872R|ZNFX1_ENST00000371752.1_Missense_Mutation_p.C872R	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	872							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCAGTGCCACAATGGTCTAGC	0.567000													50	50					0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39046788	39046788	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:39046788C>A	ENST00000373256.4	+	9	983	c.940C>A	c.(940-942)Ctc>Atc	p.L314I		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	314					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GCTGCCCATTCTCTTTGCCAT	0.602000													99	112					3.17287e-45	4.49666e-45	1	1	0
HOXA6	3203	broad.mit.edu	37	7	27187306	27187306	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:27187306G>T	ENST00000222728.3	-	1	87	c.63C>A	c.(61-63)ttC>ttA	p.F21L	HOXA6_ENST00000521478.1_Intron|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521231.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	21						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GCTGGCCCAAGAAGGAGTCCT	0.607000													27	32					9.78306e-22	1.26849e-21	1	1	0
OR10V1	390201	broad.mit.edu	37	11	59480925	59480925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:59480925G>A	ENST00000307552.2	-	1	412	c.394C>T	c.(394-396)Cga>Tga	p.R132*		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R132*(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AGCCTGTATCGCAGAGGGTGA	0.507000													11	27					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72346560	72346560	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:72346560G>A	ENST00000389916.4	+	11	1372	c.1234G>A	c.(1234-1236)Ggg>Agg	p.G412R		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	412					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCTGCACAGCGGGCAGGGTGA	0.667000													6	5					0	0	1	0	0
MICU2	221154	broad.mit.edu	37	13	22084212	22084212	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:22084212T>C	ENST00000382374.4	-	8	757	c.692A>G	c.(691-693)aAc>aGc	p.N231S		NM_152726.2	NP_689939.1			mitochondrial calcium uptake 2																		AAGAGTTGTGTTAATTTCAGG	0.254000													36	27					0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54566508	54566508	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:54566508G>T	ENST00000251636.5	-	19	3039	c.2891C>A	c.(2890-2892)tCt>tAt	p.S964Y	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	964	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTCCACCAAAGAACTCATCTG	0.428000													24	49					6.36457e-07	6.85564e-07	1	1	0
RIMS1	22999	broad.mit.edu	37	6	73110296	73110296	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:73110296C>T	ENST00000264839.7	+	30	4506	c.4506C>T	c.(4504-4506)atC>atT	p.I1502I	RIMS1_ENST00000348717.5_Silent_p.I1436I|RIMS1_ENST00000414192.2_Silent_p.I180I|RIMS1_ENST00000401910.3_Silent_p.I973I|RIMS1_ENST00000517960.1_Silent_p.I1436I|RIMS1_ENST00000521978.1_Silent_p.I1653I|RIMS1_ENST00000518273.1_Silent_p.I1332I|RIMS1_ENST00000538414.1_Silent_p.I459I|RIMS1_ENST00000425662.2_Silent_p.I721I|RIMS1_ENST00000520567.1_Silent_p.I1303I|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000523963.1_Silent_p.I778I|RIMS1_ENST00000517827.1_Silent_p.I787I|RIMS1_ENST00000491071.2_Silent_p.I1442I|RIMS1_ENST00000522291.1_Silent_p.I1252I			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1653					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCATGGTGATCGGATGGTACA	0.537000													42	41					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44110543	44110543	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:44110543C>T	ENST00000262419.6	-	13	3210	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N	KANSL1_ENST00000575318.1_Missense_Mutation_p.D850N|KANSL1_ENST00000572904.1_Missense_Mutation_p.D914N|KANSL1_ENST00000432791.1_Missense_Mutation_p.D914N|KANSL1_ENST00000574590.1_Missense_Mutation_p.D914N|KANSL1_ENST00000393476.3_Missense_Mutation_p.D208N	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	914						MLL1 complex	protein binding										AAGGCTGCGTCGGATAGGTCC	0.597000													5	11					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057874	9057874	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9057874T>A	ENST00000397910.4	-	3	29775	c.29572A>T	c.(29572-29574)Aat>Tat	p.N9858Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9860	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						AAGGCAGGATTTGATGTGAAA	0.473000													52	56					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160262864	160262864	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:160262864C>T	ENST00000264431.4	+	14	2619	c.2200C>T	c.(2200-2202)Cgc>Tgc	p.R734C		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	734	Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGAACTCTTTCGCAACATTGA	0.398000													49	5					0	0	1	0	0
RHPN1	114822	broad.mit.edu	37	8	144464034	144464034	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:144464034T>C	ENST00000289013.6	+	14	1794	c.1693T>C	c.(1693-1695)Tgg>Cgg	p.W565R		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	590	PDZ.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GCCATGCAGGTGGTGGAGACA	0.662000													11	20					0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108279102	108279102	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:108279102C>T	ENST00000369002.4	-	1	291	c.112G>A	c.(112-114)Gat>Aat	p.D38N	RP1-191J18.66_ENST00000606070.1_RNA|SEC63_ENST00000460009.1_5'UTR	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	38					protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GCATTCTGATCTCGGGGCCAG	0.682000													13	17					0	0	1	0	0
IPMK	253430	broad.mit.edu	37	10	59976042	59976042	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:59976042A>C	ENST00000373935.3	-	4	732	c.410T>G	c.(409-411)tTt>tGt	p.F137C		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	137						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						GGGCTTATTAAATTTATGGGT	0.333000													7	6					0	0	1	0	0
ZNF680	340252	broad.mit.edu	37	7	63982106	63982106	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:63982106T>G	ENST00000309683.6	-	4	1177	c.1026A>C	c.(1024-1026)aaA>aaC	p.K342N		NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				CAGTATGAATTTTCTTATGTT	0.343000													25	35					0	0	1	0	0
C2orf43	60526	broad.mit.edu	37	2	20939769	20939769	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:20939769T>G	ENST00000237822.3	-	5	744	c.665A>C	c.(664-666)gAa>gCa	p.E222A	C2orf43_ENST00000440866.2_Intron|C2orf43_ENST00000541941.1_Missense_Mutation_p.E92A|C2orf43_ENST00000381090.3_Missense_Mutation_p.E222A|C2orf43_ENST00000435420.2_Missense_Mutation_p.E174A|C2orf43_ENST00000403006.2_Missense_Mutation_p.E92A	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	222										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTGAAAATTCATTCTCTAG	0.343000													56	67					0	0	1	0	0
MESDC2	23184	broad.mit.edu	37	15	81271767	81271767	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:81271767G>A	ENST00000261758.4	-	3	584	c.498C>T	c.(496-498)taC>taT	p.Y166Y		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	166	Escort domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						TCTCCCAGGCGTAGCTCCCAT	0.537000													32	33					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80545994	80545994	+	Splice_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:80545994C>A	ENST00000265361.3	-	2	665		c.e2+1		SEMA3C_ENST00000536800.1_Splice_Site|SEMA3C_ENST00000419255.2_Splice_Site|SEMA3C_ENST00000544525.1_Splice_Site|SEMA3C_ENST00000487621.1_Splice_Site	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C						immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AACTCTCTTACCATCAAATGT	0.333000													16	28					2.48551e-13	2.91259e-13	1	1	0
ACTG2	72	broad.mit.edu	37	2	74136221	74136221	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:74136221G>A	ENST00000409624.1	+	6	1049	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	ACTG2_ENST00000409731.3_Missense_Mutation_p.A93T|ACTG2_ENST00000345517.3_Missense_Mutation_p.A136T			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	136					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						CATGTACGTCGCCATTCAAGC	0.453000													43	50					0	0	1	0	0
LYSMD4	145748	broad.mit.edu	37	15	100272132	100272132	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:100272132C>T	ENST00000332728.4	-	3	257	c.73G>A	c.(73-75)Gta>Ata	p.V25I	LYSMD4_ENST00000545021.1_5'UTR|LYSMD4_ENST00000344791.2_5'UTR|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000409796.1_Missense_Mutation_p.V25I			Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	25					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			AACATGTATACGTGGCTGGTC	0.547000													14	9					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120308035	120308035	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:120308035A>C	ENST00000397843.2	+	12	1109	c.943A>C	c.(943-945)Aaa>Caa	p.K315Q	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.K296Q|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.K212Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	315					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GAGTGGCCCAAAAGAGAGAAT	0.368000			T	MLL	AML								13	31					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82895797	82895797	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:82895797T>C	ENST00000298281.4	+	16	4981	c.4529T>C	c.(4528-4530)gTc>gCc	p.V1510A		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1510					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTGAACATTGTCAAAAACGAA	0.418000													22	27					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73151971	73151971	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:73151971G>A	ENST00000377110.3	-	25	4265	c.4022C>T	c.(4021-4023)tCg>tTg	p.S1341L	TRPM3_ENST00000357533.2_Missense_Mutation_p.S1345L|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1200L|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1368L|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1203L|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1200L|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1213L|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1190L|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1200L|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1203L|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1213L			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CATATTGACCGAATAGAAAGA	0.458000													59	61					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43900590	43900590	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:43900590G>A	ENST00000261488.6	-	10	1685	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	ENOX1_ENST00000412891.1_Missense_Mutation_p.R370C|ENOX1_ENST00000540032.1_Missense_Mutation_p.R183C	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	370					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		ATGTTCTTGCGCTGGGCTTTC	0.433000													37	45					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94776247	94776247	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:94776247G>A	ENST00000341584.3	-	3	856	c.710C>T	c.(709-711)tCg>tTg	p.S237L		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	237					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GATGGTGCTCGACTGCAACAT	0.547000													23	23					0	0	1	0	0
GSE1	23199	broad.mit.edu	37	16	85667547	85667547	+	Missense_Mutation	SNP	C	C	T	rs146118023		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:85667547C>T	ENST00000253458.7	+	2	211	c.35C>T	c.(34-36)tCg>tTg	p.S12L	GSE1_ENST00000393243.1_Intron|GSE1_ENST00000405402.2_Intron	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		AAGTCCCCTTCGCTAGGGATG	0.667000													45	53					0	0	1	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442621	89442621	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:89442621C>A	ENST00000492167.1	-	0	22																											CTGAGCAGCTCTTCTCCAGAG	0.607000													47	61					5.20006e-24	6.87114e-24	1	1	0
ADAM12	8038	broad.mit.edu	37	10	127760116	127760116	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:127760116G>T	ENST00000368679.4	-	12	1571	c.1262C>A	c.(1261-1263)tCt>tAt	p.S421Y	ADAM12_ENST00000368676.4_Missense_Mutation_p.S421Y	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	421					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCCCCCGAAAGACTCCCTGAC	0.532000													6	128					0.00116845	0.00119626	1	1	0
SLC45A3	85414	broad.mit.edu	37	1	205632113	205632113	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:205632113C>T	ENST00000367145.3	-	3	1101	c.806G>A	c.(805-807)cGc>cAc	p.R269H		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	269					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GCGCAGGGTGCGGGGCATGCG	0.662000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								38	27					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662520	40662520	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:40662520A>C	ENST00000454349.2	+	5	2497	c.2286A>C	c.(2284-2286)gaA>gaC	p.E762D	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.E762D|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	762					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GCAATTGGGAAAGTTCTGCAA	0.517000													26	34					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58920376	58920376	+	Missense_Mutation	SNP	T	T	C	rs150845388		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:58920376T>C	ENST00000528737.1	+	5	4053	c.1235T>C	c.(1234-1236)tTt>tCt	p.F412S	FAM111A_ENST00000531147.1_Missense_Mutation_p.F412S|FAM111A_ENST00000420244.1_Missense_Mutation_p.F412S|FAM111A_ENST00000361723.3_Missense_Mutation_p.F412S|FAM111A_ENST00000533703.1_Missense_Mutation_p.F412S			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	412					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AGGGTGACATTTGGTTATGAA	0.383000													53	58					0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17959299	17959299	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:17959299T>C	ENST00000381254.2	+	12	1447	c.1233T>C	c.(1231-1233)gtT>gtC	p.V411V	GEN1_ENST00000317402.7_Silent_p.V411V|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	411					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAAATGGAGTTCATTGTTTTG	0.274000								Homologous recombination					26	36					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68363567	68363567	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:68363567C>T	ENST00000393799.2	+	19	2186	c.1919C>T	c.(1918-1920)tCg>tTg	p.S640L	PPP6R3_ENST00000534534.1_Missense_Mutation_p.S408L|PPP6R3_ENST00000393801.3_Missense_Mutation_p.S640L|PPP6R3_ENST00000265636.5_Missense_Mutation_p.S560L|PPP6R3_ENST00000524845.1_Missense_Mutation_p.S611L|PPP6R3_ENST00000529710.1_Missense_Mutation_p.S560L|PPP6R3_ENST00000527403.2_Missense_Mutation_p.S605L|PPP6R3_ENST00000265637.4_Missense_Mutation_p.S594L|PPP6R3_ENST00000393800.2_Missense_Mutation_p.S640L|PPP6R3_ENST00000524904.1_Missense_Mutation_p.S634L			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	640					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTCCTTAGCTCGGGGAGTACA	0.443000													27	23					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202722143	202722143	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:202722143C>A	ENST00000367265.3	-	12	2755	c.1591G>T	c.(1591-1593)Gaa>Taa	p.E531*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.E567*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	531	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATTACATTTTCTAGCTGCTCA	0.448000													35	43					1.90571e-15	2.30404e-15	1	1	0
HEATR5B	54497	broad.mit.edu	37	2	37302754	37302754	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:37302754T>G	ENST00000233099.5	-	5	566	c.471A>C	c.(469-471)ttA>ttC	p.L157F	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L157F	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	157							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTAGACTCATTAAGATTTCAC	0.373000													46	45					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47284599	47284599	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:47284599T>G	ENST00000335044.2	-	16	2008	c.1651A>C	c.(1651-1653)Act>Cct	p.T551P	KIF9_ENST00000444589.2_Intron|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Missense_Mutation_p.T551P|KIF9_ENST00000265529.3_Missense_Mutation_p.T551P|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Intron	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	551					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATGCTGGAAGTTTCCCGGTCC	0.507000													13	41					0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21396422	21396422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:21396422G>A	ENST00000400602.2	-	8	882	c.847C>T	c.(847-849)Cga>Tga	p.R283*	XPO4_ENST00000255305.6_Nonsense_Mutation_p.R283*	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	283					protein transport	cytoplasm|nucleus	protein binding	p.R256*(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CTGATTTTTCGATGTACCTGT	0.398000													19	24					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163306563	163306563	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:163306563T>C	ENST00000271452.3	+	6	639	c.360T>C	c.(358-360)ttT>ttC	p.F120F	NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000367900.3_Silent_p.F120F|NUF2_ENST00000524800.1_Silent_p.F120F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	120	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CAAGTCGGTTTTTAAGTGGCA	0.318000													15	23					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101483786	101483786	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:101483786G>A	ENST00000341893.3	+	11	2741	c.1989G>A	c.(1987-1989)tcG>tcA	p.S663S	CEP97_ENST00000494050.1_Silent_p.S604S|CEP97_ENST00000327230.4_Silent_p.S689S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	663	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TTGTGCCATCGAAACATCCAT	0.428000													36	65					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997437	115997437	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:115997437G>T	ENST00000264363.2	-	2	1434	c.756C>A	c.(754-756)ctC>ctA	p.L252L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	252	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCGTTGCAAAGAGTGTTTTGC	0.403000													45	74					5.48756e-27	7.39954e-27	1	1	0
DLX4	1748	broad.mit.edu	37	17	48051160	48051160	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:48051160C>A	ENST00000240306.3	+	3	871	c.576C>A	c.(574-576)ttC>ttA	p.F192L	DLX4_ENST00000411890.2_Missense_Mutation_p.F120L	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	192					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GGAGGACCTTCTCTGTGTCTC	0.577000													61	75					6.3091e-27	8.488e-27	1	1	0
ZRANB1	54764	broad.mit.edu	37	10	126672126	126672126	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:126672126G>A	ENST00000359653.4	+	8	2148	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	593	TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GGTTGCCATGGAAAATGATGG	0.463000													31	30					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100481757	100481757	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:100481757A>C	ENST00000388793.4	+	6	874	c.654A>C	c.(652-654)caA>caC	p.Q218H	SRRT_ENST00000347433.4_Missense_Mutation_p.Q218H|SRRT_ENST00000457580.2_Missense_Mutation_p.Q218H|SRRT_ENST00000432932.1_Missense_Mutation_p.Q218H	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	218					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGGCCCTGCAAAACCGACTGA	0.562000													60	72					0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115544835	115544835	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:115544835A>C	ENST00000310836.6	+	2	1321	c.799A>C	c.(799-801)Aaa>Caa	p.K267Q	UGT8_ENST00000394511.3_Missense_Mutation_p.K267Q	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	267					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AATCCTAACCAAACCAGCCAG	0.423000													27	39					0	0	1	0	0
CLDN10	9071	broad.mit.edu	37	13	96085970	96085970	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:96085970G>A	ENST00000376873.3	+	0	113					NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10						calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			AGCATGAAACGCTGTCACCTA	0.478000													4	2					0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11185681	11185681	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:11185681C>T	ENST00000379446.5	-	7	2385	c.2219G>A	c.(2218-2220)cGa>cAa	p.R740Q	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.R740Q	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	740	Divergent helix-loop-helix motif.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CACGAAGATTCGCGGGGGCTG	0.527000													51	71					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186023071	186023071	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:186023071C>T	ENST00000271588.4	+	44	7044	c.6815C>T	c.(6814-6816)tCg>tTg	p.S2272L	HMCN1_ENST00000367492.2_Missense_Mutation_p.S2272L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2272	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTGTGGCGTCGAATGTTGCT	0.398000													28	29					0	0	1	0	0
GPSM1	26086	broad.mit.edu	37	9	139250838	139250838	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:139250838G>A	ENST00000440944.1	+	13	1877	c.1657G>A	c.(1657-1659)Gac>Aac	p.D553N	GPSM1_ENST00000429455.1_Missense_Mutation_p.D44N|GPSM1_ENST00000392944.1_Missense_Mutation_p.D44N	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	553	GoLoco 2.				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGAATTCTTCGACCTCATCGC	0.706000													15	12					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511207	48511207	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:48511207G>T	ENST00000446524.1	+	1	939	c.863G>T	c.(862-864)aGa>aTa	p.R288I		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TACACTCTGAGAAATTCTGAG	0.423000													73	78					3.37205e-40	4.74239e-40	1	1	0
AKAP12	9590	broad.mit.edu	37	6	151672226	151672226	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:151672226G>A	ENST00000402676.2	+	4	2940	c.2700G>A	c.(2698-2700)acG>acA	p.T900T	AKAP12_ENST00000359755.5_Silent_p.T795T|AKAP12_ENST00000253332.1_Silent_p.T900T|AKAP12_ENST00000354675.6_Silent_p.T802T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	900					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CTGACGGGACGAGGGCAGCTA	0.527000													50	51					0	0	1	0	0
DSCC1	79075	broad.mit.edu	37	8	120855032	120855032	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:120855032C>A	ENST00000313655.4	-	6	967	c.753G>T	c.(751-753)aaG>aaT	p.K251N		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	251					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTACATATTTCTTCCCATAAC	0.303000													12	20					5.50884e-06	5.83488e-06	1	1	0
FAM35A	54537	broad.mit.edu	37	10	88946949	88946949	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:88946949G>A	ENST00000298786.4	+	9	2621	c.2507G>A	c.(2506-2508)aGa>aAa	p.R836K	FAM35A_ENST00000298784.1_Missense_Mutation_p.R767K			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	767										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TGCCTCAACAGAGTGATAGGT	0.363000													20	36					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56737393	56737393	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:56737393C>T	ENST00000381295.2	+	7	1306	c.958C>T	c.(958-960)Cga>Tga	p.R320*	EXOC1_ENST00000349598.6_Nonsense_Mutation_p.R320*|EXOC1_ENST00000346134.7_Nonsense_Mutation_p.R320*	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	320					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TGTAGCTCTTCGACCAGGTAT	0.423000													21	23					0	0	1	0	0
GNG5	2787	broad.mit.edu	37	1	84967534	84967534	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:84967534A>C	ENST00000370641.3	-	2	674	c.201T>G	c.(199-201)ttT>ttG	p.F67L	GNG5_ENST00000487806.1_5'UTR|GNG5_ENST00000370645.4_Missense_Mutation_p.F67L			P63218	GBG5_HUMAN	guanine nucleotide binding protein (G protein), gamma 5	67					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		TTTACTACAAAAAGGAACAGA	0.373000													23	34					0	0	1	0	0
OR1L6	392390	broad.mit.edu	37	9	125512030	125512030	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:125512030T>G	ENST00000373684.1	+	1	12	c.12T>G	c.(10-12)ttT>ttG	p.F4L				Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TGAGCTATTTTTACAGGCTTA	0.473000													48	53					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65197291	65197291	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:65197291A>G	ENST00000358691.5	-	7	549	c.383T>C	c.(382-384)gTa>gCa	p.V128A	HELZ_ENST00000580168.1_Missense_Mutation_p.V128A|HELZ_ENST00000580662.1_5'UTR	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATCCTTTGTTACCATCCCATT	0.363000											OREG0024677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	30					0	0	1	0	0
GPX8	493869	broad.mit.edu	37	5	54456202	54456202	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:54456202C>A	ENST00000296734.6	+	1	206	c.182C>A	c.(181-183)tCt>tAt	p.S61Y	CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000322374.6_Intron|GPX8_ENST00000503787.1_Missense_Mutation_p.S61Y|GPX8_ENST00000506123.1_3'UTR|GPX8_ENST00000515370.1_Intron			Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	61					response to oxidative stress	integral to membrane	glutathione peroxidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	AGAACTGTTTCTCTGGAAAAG	0.308000													14	17					3.41278e-10	3.84949e-10	1	1	0
SPON1	10418	broad.mit.edu	37	11	14284332	14284332	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:14284332C>T	ENST00000310358.7	+	0	2606							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.R690*(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CCACGTGATTCGAACCCGGAT	0.537000													20	26					0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38901619	38901619	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:38901619G>T	ENST00000454404.2	-	16	1983	c.1770C>A	c.(1768-1770)tcC>tcA	p.S590S	RASGRP4_ENST00000293062.9_Silent_p.S527S|RASGRP4_ENST00000586305.1_Silent_p.S610S|RASGRP4_ENST00000433821.2_Silent_p.S532S|RASGRP4_ENST00000587753.1_Silent_p.S555S|RASGRP4_ENST00000426920.2_Silent_p.S435S|RASGRP4_ENST00000587738.1_Silent_p.S624S	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	624					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATAGCGTGTAGGAGTGATTTT	0.572000													6	3					5.9392e-07	6.40003e-07	1	1	0
MYH4	4622	broad.mit.edu	37	17	10362720	10362720	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:10362720G>A	ENST00000255381.2	-	15	1545	c.1435C>T	c.(1435-1437)Ctg>Ttg	p.L479L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	479	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						TTGATGCACAGCTGCTCCAGG	0.403000													67	74					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173951947	173951947	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:173951947C>A	ENST00000367696.2	-	5	1037	c.686G>T	c.(685-687)aGa>aTa	p.R229I	RC3H1_ENST00000258349.4_Missense_Mutation_p.R229I|RC3H1_ENST00000367694.2_Missense_Mutation_p.R229I			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	229					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TGGCTCCAATCTTTGCACCAC	0.433000													58	67					2.5401e-28	3.45217e-28	1	1	0
GPR155	151556	broad.mit.edu	37	2	175338026	175338026	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:175338026G>T	ENST00000392552.2	-	3	765	c.527C>A	c.(526-528)tCt>tAt	p.S176Y	GPR155_ENST00000295500.4_Missense_Mutation_p.S176Y|GPR155_ENST00000392551.2_Missense_Mutation_p.S176Y	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	176					intracellular signal transduction|transmembrane transport	integral to membrane		p.S176Y(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CATCATAAGAGATATTGGTGC	0.308000													45	38					1.06522e-23	1.40371e-23	1	1	0
DCLK1	9201	broad.mit.edu	37	13	36348799	36348799	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:36348799C>T	ENST00000255448.4	-	18	2381	c.2170G>A	c.(2170-2172)Gaa>Aaa	p.E724K	DCLK1_ENST00000360631.3_Missense_Mutation_p.R699Q|DCLK1_ENST00000379893.1_Missense_Mutation_p.R392Q	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	0					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTTGCGTCTTCGTCGGAAAAC	0.537000													5	9					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63417103	63417103	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:63417103A>G	ENST00000322893.7	-	7	1385	c.1117T>C	c.(1117-1119)Tac>Cac	p.Y373H	KCNH5_ENST00000394968.1_Missense_Mutation_p.Y315H|KCNH5_ENST00000394964.2_Missense_Mutation_p.Y315H|KCNH5_ENST00000420622.2_Missense_Mutation_p.Y373H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	373					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			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)		ATGACCTCGTAGTCTCCGATG	0.507000													31	69					0	0	1	0	0
PTDSS1	9791	broad.mit.edu	37	8	97321824	97321824	+	Silent	SNP	C	C	T	rs145261755		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:97321824C>T	ENST00000517309.1	+	9	1373	c.1047C>T	c.(1045-1047)cgC>cgT	p.R349R	PTDSS1_ENST00000522072.1_Silent_p.R146R|PTDSS1_ENST00000455950.2_Silent_p.R203R	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	349					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	AGTGCAAGCGCGTAGGAACAC	0.428000													17	24					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903464	6903464	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:6903464A>G	ENST00000486284.1	+	1	663	c.389A>G	c.(388-390)gAc>gGc	p.D130G	GRM7_ENST00000389336.4_Missense_Mutation_p.D130G|GRM7_ENST00000402647.2_Missense_Mutation_p.D130G|GRM7_ENST00000403881.1_Missense_Mutation_p.D130G|GRM7_ENST00000357716.4_Missense_Mutation_p.D130G	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	130					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ATCCAGAAGGACACCTCCGAC	0.607000													34	43					0	0	1	0	0
PCCA	5095	broad.mit.edu	37	13	100925518	100925518	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:100925518A>C	ENST00000376285.1	+	12	1021	c.983A>C	c.(982-984)aAa>aCa	p.K328T	PCCA_ENST00000376279.3_Missense_Mutation_p.K328T|PCCA_ENST00000376286.4_Missense_Mutation_p.K302T	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	328	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AGAGCAGTAAAATATTCCTCT	0.388000													15	23					0	0	1	0	0
KRT16P6	353194	broad.mit.edu	37	17	16722436	16722436	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:16722436C>T	ENST00000417510.1	-	0	1294																											CACACAGTAGCGGCCTTTGGT	0.572000													27	64					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407438	105407438	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:105407438G>T	ENST00000333244.5	-	7	14469	c.14350C>A	c.(14350-14352)Ctc>Atc	p.L4784I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4784						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)			CAGGGAGAGAGAATAGAAGAT	0.502000													41	58					1.32136e-16	1.62631e-16	1	1	0
BSX	390259	broad.mit.edu	37	11	122850047	122850047	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:122850047C>A	ENST00000343035.2	-	2	429	c.381G>T	c.(379-381)aaG>aaT	p.K127N		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	127										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		TCTCGAACCTCTTCTCCAAGC	0.682000													65	68					1.12612e-26	1.51198e-26	1	1	0
TSSK1B	83942	broad.mit.edu	37	5	112769636	112769636	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:112769636C>T	ENST00000390666.3	-	1	1092	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	301					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GAGCCAGGTTCGGGGGTCCAC	0.622000													15	28					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35988963	35988963	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:35988963G>T	ENST00000297866.5	+	11	1959	c.1893G>T	c.(1891-1893)aaG>aaT	p.K631N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	631										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AACAGCAAAAGAAATTACATG	0.308000													10	0					0.00621372	0.00631556	1	1	0
FH	2271	broad.mit.edu	37	1	241675335	241675335	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:241675335C>A	ENST00000366560.3	-	4	525	c.487G>T	c.(487-489)Gaa>Taa	p.E163*		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	163					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CCTAACATTTCAATTGCTCTA	0.383000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				58	74					6.3091e-27	8.488e-27	1	1	0
MAP1A	4130	broad.mit.edu	37	15	43815111	43815111	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:43815111C>T	ENST00000382031.1	+	5	2185	c.2154C>T	c.(2152-2154)gtC>gtT	p.V718V	MAP1A_ENST00000399453.1_Silent_p.V480V|MAP1A_ENST00000300231.5_Silent_p.V480V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	480						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGCCAAGGTCCCTGGAAGAG	0.517000													9	16					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43529494	43529494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:43529494G>A	ENST00000282041.5	-	5	1487	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	485					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GCGGGGCATCGAAGAATATGG	0.418000													26	31					0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113286216	113286216	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:113286216C>T	ENST00000362072.3	-	5	994	c.650G>A	c.(649-651)cGc>cAc	p.R217H	DRD2_ENST00000544518.1_Missense_Mutation_p.R216H|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000346454.3_Missense_Mutation_p.R217H|DRD2_ENST00000538967.1_Missense_Mutation_p.R217H|DRD2_ENST00000542968.1_Missense_Mutation_p.R217H|DRD2_ENST00000355319.2_Missense_Mutation_p.R217H	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	217	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GCGGCGTCTGCGGAGGACAAT	0.572000													55	74					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66205109	66205109	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:66205109T>G	ENST00000503581.1	-	4	732	c.195A>C	c.(193-195)aaA>aaC	p.K65N	EYS_ENST00000393380.2_Missense_Mutation_p.K65N|EYS_ENST00000370618.3_Missense_Mutation_p.K65N|EYS_ENST00000342421.5_Missense_Mutation_p.K65N|EYS_ENST00000370616.2_Missense_Mutation_p.K65N|EYS_ENST00000370621.3_Missense_Mutation_p.K65N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	65					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAGTATCTATTTTAGTGTTTA	0.388000													53	63					0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68598026	68598026	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:68598026G>A	ENST00000570495.1	+	5	1628	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	ZFP90_ENST00000398253.2_Missense_Mutation_p.E446K|ZFP90_ENST00000563169.2_Missense_Mutation_p.E446K			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	446					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E446K(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CACTCTTACCGAAGTGAAATC	0.418000													52	64					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31024021	31024021	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:31024021C>A	ENST00000375687.4	+	13	3930	c.3506C>A	c.(3505-3507)tCt>tAt	p.S1169Y	ASXL1_ENST00000306058.5_Missense_Mutation_p.S1164Y	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1169					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGCCCCAGTTCTTTAAGGGCT	0.522000			"""F, N, Mis"""		"""MDS, CMML"""								41	43					2.40579e-17	2.98582e-17	1	1	0
CLASP2	23122	broad.mit.edu	37	3	33644563	33644563	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:33644563C>T	ENST00000399362.4	-	18	2158	c.1805G>A	c.(1804-1806)cGa>cAa	p.R602Q	CLASP2_ENST00000480013.1_Missense_Mutation_p.R369Q|CLASP2_ENST00000487200.1_Missense_Mutation_p.R375Q|CLASP2_ENST00000313350.6_Missense_Mutation_p.R375Q|CLASP2_ENST00000539981.1_Missense_Mutation_p.R354Q|CLASP2_ENST00000307312.7_Missense_Mutation_p.R91Q|CLASP2_ENST00000468888.2_Missense_Mutation_p.R603Q|CLASP2_ENST00000461133.3_Missense_Mutation_p.R369Q|CLASP2_ENST00000333778.6_Missense_Mutation_p.R379Q|CLASP2_ENST00000359576.5_Missense_Mutation_p.R602Q	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	603										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AATGTCACTTCGTGAACGCTG	0.498000													9	5					0	0	1	0	0
DGCR5	26220	broad.mit.edu	37	22	18975379	18975379	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:18975379C>T	ENST00000438934.1	+	0	255				DGCR5_ENST00000421572.1_RNA|DGCR5_ENST00000440005.2_RNA																							CCATCTCCTTCCCAGCCAACT	0.537000													5	4					0	0	1	0	0
CMTR2	55783	broad.mit.edu	37	16	71319746	71319746	+	Silent	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:71319746A>T	ENST00000338099.5	-	3	414	c.78T>A	c.(76-78)atT>atA	p.I26I	CMTR2_ENST00000434935.2_Silent_p.I26I					cap methyltransferase 2	26																	AGAGTTCAAAAATGTCAGCAA	0.413000													26	24					0	0	1	0	0
APOOL	139322	broad.mit.edu	37	X	84310862	84310862	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:84310862C>T	ENST00000373173.2	+	5	412	c.325C>T	c.(325-327)Cga>Tga	p.R109*		NM_198450.5	NP_940852.3	Q6UXV4	APOOL_HUMAN	apolipoprotein O-like	109						extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAATCCTCCTCGAGATTTTCT	0.338000													12	1					0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66844082	66844082	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:66844082C>A	ENST00000341509.5	-	11	1573	c.1442G>T	c.(1441-1443)aGa>aTa	p.R481I	LCTL_ENST00000537670.1_Missense_Mutation_p.R308I	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	481					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGCTTATTTCTGTCGTTAAA	0.373000													54	86					6.27289e-28	8.50797e-28	1	1	0
ZNF76	7629	broad.mit.edu	37	6	35260389	35260389	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:35260389G>A	ENST00000373953.3	+	10	1256	c.990G>A	c.(988-990)tcG>tcA	p.S330S	ZNF76_ENST00000440666.2_Silent_p.S304S|ZNF76_ENST00000339411.5_Silent_p.S330S	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	330					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S330S(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCGAGTACTCGAGCTTGTATA	0.622000													39	55					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58452862	58452862	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:58452862A>G	ENST00000282308.3	-	3	1510	c.1314T>C	c.(1312-1314)caT>caC	p.H438H	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	438					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TTCCACATTCATGACATTCAT	0.388000													32	52					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731012	140731012	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140731012G>T	ENST00000523390.1	+	1	1185	c.1185G>T	c.(1183-1185)aaG>aaT	p.K395N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTCGAAGAATTATTACA	0.468000													14	15					0.00185496	0.0018962	1	1	0
KIAA1009	22832	broad.mit.edu	37	6	84910566	84910566	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:84910566T>C	ENST00000403245.3	-	9	890	c.776A>G	c.(775-777)aAa>aGa	p.K259R	KIAA1009_ENST00000257766.4_Missense_Mutation_p.K183R	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	259					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AGGTGTTATTTTATCTTGTTC	0.343000													54	58					0	0	1	0	0
UBA52	7311	broad.mit.edu	37	19	18684102	18684102	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:18684102G>A	ENST00000442744.2	+	2	50		c.e2-1		UBA52_ENST00000430157.2_Splice_Site|UBA52_ENST00000595683.1_Splice_Site|UBA52_ENST00000598780.1_Splice_Site|UBA52_ENST00000596304.1_Splice_Site|UBA52_ENST00000596273.1_Splice_Site|UBA52_ENST00000597451.1_5'UTR|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000595158.1_Splice_Site|UBA52_ENST00000599595.1_5'UTR|UBA52_ENST00000599551.1_Splice_Site	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1						activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						TCCTCCTGCAGACGCAAACAT	0.517000													10	14					0	0	1	0	0
GALNT7	51809	broad.mit.edu	37	4	174239626	174239626	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:174239626G>A	ENST00000265000.4	+	11	1835	c.1752G>A	c.(1750-1752)caG>caA	p.Q584Q		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	584	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		AGTATGACCAGTGTTTGACAA	0.368000													14	25					0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9988136	9988136	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:9988136G>T	ENST00000412055.1	-	4	2850	c.2721C>A	c.(2719-2721)ttC>ttA	p.F907L		NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	907						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						AACCCCTGGAGAAGCTGTCGA	0.657000													7	8					0.00198382	0.00202405	1	1	0
RNF217-AS1	7955	broad.mit.edu	37	6	125232374	125232374	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:125232374C>T	ENST00000439075.1	-	0	2371					NR_026876.1																						GAAGGGAGATCTGAGAGATAC	0.463000													5	5					0	0	1	0	0
LRRC46	90506	broad.mit.edu	37	17	45914364	45914364	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:45914364C>T	ENST00000269025.4	+	8	1207	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	282										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						CAGTCTGATTCCCAGGGGCCA	0.632000													80	103					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48699363	48699363	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:48699363G>T	ENST00000236495.5	+	10	1195	c.1145G>T	c.(1144-1146)aGa>aTa	p.R382I	SLC5A9_ENST00000438567.2_Missense_Mutation_p.R357I|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Missense_Mutation_p.R378I	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	357						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GTCTGCCAAAGAATCTGTGGG	0.557000													16	18					3.32936e-07	3.60079e-07	1	1	0
ITGB6	3694	broad.mit.edu	37	2	161052031	161052031	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:161052031C>T	ENST00000283249.2	-	4	679	c.442G>A	c.(442-444)Gac>Aac	p.D148N	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Missense_Mutation_p.D148N|ITGB6_ENST00000428609.2_Missense_Mutation_p.D106N|ITGB6_ENST00000409872.1_Missense_Mutation_p.D148N	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	148	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GTGTTGAGGTCGTCATCCATG	0.517000													48	46					0	0	1	0	0
KPNA2	3838	broad.mit.edu	37	17	66041889	66041889	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:66041889C>T	ENST00000537025.2	+	10	1969	c.1349C>T	c.(1348-1350)gCt>gTt	p.A450V	KPNA2_ENST00000330459.3_Splice_Site_p.A450V|KPNA2_ENST00000582898.1_3'UTR			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	450					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTTTTAGGCTGCTGAGAAA	0.308000													35	46					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26647295	26647295	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:26647295G>T	ENST00000288710.2	+	4	587	c.513G>T	c.(511-513)aaG>aaT	p.K171N		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		TAGAAGATAAGAATAAACTCA	0.527000													30	34					3.1745e-13	3.71752e-13	1	1	0
PPOX	5498	broad.mit.edu	37	1	161138854	161138854	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:161138854C>T	ENST00000367999.4	+	7	954	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	PPOX_ENST00000352210.5_Missense_Mutation_p.R230C|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	230					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	p.R230C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTGGTCACTTCGTGGAGGTCT	0.592000													42	47					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45136976	45136976	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:45136976A>C	ENST00000296129.1	-	5	1243	c.1109T>G	c.(1108-1110)tTt>tGt	p.F370C		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	370						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCCAGGGACAAACTTGCGGCT	0.493000													32	35					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106173634	106173634	+	RNA	SNP	G	G	T	rs1140501		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:106173634G>T	ENST00000390547.2	-	0	932																											CCATGCAGGAGAAGGTGTCCC	0.632000													19	60					1.33834e-09	1.4963e-09	1	1	0
DPYD	1806	broad.mit.edu	37	1	98348868	98348868	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:98348868C>A	ENST00000370192.3	-	2	202	c.102G>T	c.(100-102)aaG>aaT	p.K34N	DPYD_ENST00000306031.5_Missense_Mutation_p.K34N|DPYD_ENST00000423006.2_Intron	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	34					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGTCTAATTTCTTGGCCGAAG	0.368000													13	26					3.41278e-10	3.84949e-10	1	1	0
FRY	10129	broad.mit.edu	37	13	32721489	32721489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:32721489G>A	ENST00000380250.3	+	12	1746	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TACATGATTCGAATTAAATGT	0.398000													11	13					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103277475	103277475	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:103277475C>T	ENST00000520539.1	-	53	8060	c.7454G>A	c.(7453-7455)cGa>cAa	p.R2485Q	UBR5_ENST00000518205.1_Missense_Mutation_p.R213Q|UBR5_ENST00000521922.1_Missense_Mutation_p.R2478Q|UBR5_ENST00000220959.4_Missense_Mutation_p.R2484Q	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2485	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TACTACACTTCGACTAGAGCC	0.403000													30	24					0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168440763	168440763	+	Silent	SNP	G	G	A	rs146483835		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:168440763G>A	ENST00000443060.2	+	7	904	c.513G>A	c.(511-513)tcG>tcA	p.S171S	KIF25_ENST00000351261.3_Silent_p.S171S|KIF25_ENST00000354419.2_Silent_p.S171S			Q9UIL4	KIF25_HUMAN	kinesin family member 25	171	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.S171S(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCAGCGCCTCGAAACTGATGG	0.607000													42	66					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143515	56143515	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:56143515G>A	ENST00000302270.1	+	1	416	c.416G>A	c.(415-417)gGa>gAa	p.G139E		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					ATGACTCCAGGAATCTGCATT	0.443000													62	66					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149544830	149544830	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:149544830A>C	ENST00000223210.4	+	4	493	c.248A>C	c.(247-249)aAa>aCa	p.K83T		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AAAGGAAAAAAACAGATGGGC	0.488000													12	12					0	0	1	0	0
MOCS2	4338	broad.mit.edu	37	5	52404428	52404428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:52404428G>A	ENST00000361377.4	-	2	105	c.64C>T	c.(64-66)Cgt>Tgt	p.R22C	MOCS2_ENST00000527216.1_Missense_Mutation_p.R17C|MOCS2_ENST00000582677.1_Missense_Mutation_p.R22C|MOCS2_ENST00000450852.3_Missense_Mutation_p.R22C|MOCS2_ENST00000508922.1_Missense_Mutation_p.R22C|MOCS2_ENST00000584946.1_Missense_Mutation_p.R22C|MOCS2_ENST00000396954.3_5'UTR|MOCS2_ENST00000510818.2_Missense_Mutation_p.R22C			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	22					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				GTCTCTGAACGAACTCCTGTT	0.363000													28	21					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26628125	26628125	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:26628125G>A	ENST00000380573.3	-	3	1965	c.942C>T	c.(940-942)ctC>ctT	p.L314L	ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380582.3_Silent_p.L314L|ADRA1A_ENST00000519229.1_Silent_p.L314L|ADRA1A_ENST00000276393.4_Silent_p.L314L|ADRA1A_ENST00000354550.4_Silent_p.L314L|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380586.1_Silent_p.L314L			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	314					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TTAGATATCCGAGCCAAAATA	0.398000													53	65					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197086962	197086962	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:197086962G>T	ENST00000260983.3	-	24	4301	c.4119C>A	c.(4117-4119)ttC>ttA	p.F1373L	HECW2_ENST00000409111.1_Missense_Mutation_p.F1017L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGTTCACAGTGAACGTGAGGT	0.448000													30	3					1.2476e-16	1.53624e-16	1	1	0
TAF13	6884	broad.mit.edu	37	1	109617632	109617632	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:109617632C>A	ENST00000338366.5	-	2	137	c.83G>T	c.(82-84)aGa>aTa	p.R28I		NM_005645.3	NP_005636.1	Q15543	TAF13_HUMAN	TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa	28					transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein C-terminus binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)	3		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)		AAGTCTCTTTCTTTTACCCTG	0.313000													83	122					7.7321e-48	1.09756e-47	1	1	0
TLN2	83660	broad.mit.edu	37	15	63125738	63125738	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:63125738C>A	ENST00000561311.1	+	54	7268	c.7038C>A	c.(7036-7038)atC>atA	p.I2346I	TLN2_ENST00000306829.6_Silent_p.I2346I|RP11-1069G10.1_ENST00000558888.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2346	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGGAACAGATCTTGGAAGCTG	0.498000													92	118					1.13981e-37	1.59419e-37	1	1	0
MTTP	4547	broad.mit.edu	37	4	100512945	100512945	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:100512945G>A	ENST00000457717.1	+	7	1012	c.756G>A	c.(754-756)tcG>tcA	p.S252S	MTTP_ENST00000511045.1_Silent_p.S279S|MTTP_ENST00000265517.5_Silent_p.S252S	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	252	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)	AAATAGTATCGAAGTAAGATA	0.308000													12	14					0	0	1	0	0
SEMA4B	10509	broad.mit.edu	37	15	90764955	90764955	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:90764955C>A	ENST00000411539.2	+	7	1079	c.819C>A	c.(817-819)ttC>ttA	p.F273L	SEMA4B_ENST00000332496.6_Missense_Mutation_p.F273L|SEMA4B_ENST00000379122.3_Missense_Mutation_p.F268L	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AATTTGAGTTCTTTGAGAACA	0.557000											OREG0023469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	25					9.39395e-14	1.10812e-13	1	1	0
NUP133	55746	broad.mit.edu	37	1	229611390	229611390	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:229611390G>T	ENST00000261396.3	-	14	1937	c.1846C>A	c.(1846-1848)Cat>Aat	p.H616N	NUP133_ENST00000537506.1_Missense_Mutation_p.H600N	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	616					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTACTTGATGAATAAAGTCC	0.453000													20	28					4.35082e-09	4.8279e-09	1	1	0
RC3H1	149041	broad.mit.edu	37	1	173934023	173934023	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:173934023T>G	ENST00000367696.2	-	10	1921	c.1570A>C	c.(1570-1572)Aaa>Caa	p.K524Q	RC3H1_ENST00000258349.4_Missense_Mutation_p.K524Q|RC3H1_ENST00000367694.2_Missense_Mutation_p.K524Q			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	524					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TGATCTATTTTTCCTGGTTTC	0.428000													54	72					0	0	1	0	0
CHP2	63928	broad.mit.edu	37	16	23768528	23768528	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:23768528C>T	ENST00000300113.2	+	6	844	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	141	EF-hand 3.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		TCAGGTTCTCCGTCTGATGGT	0.557000													21	19					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76645262	76645262	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:76645262G>A	ENST00000264917.5	+	8	940	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	PDE8B_ENST00000333194.4_Missense_Mutation_p.E299K|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000342343.4_Missense_Mutation_p.E279K|PDE8B_ENST00000340978.3_Intron	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	299	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCCAGCCTTCGAAAGGATGAT	0.502000													33	38					0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13466593	13466593	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:13466593G>A	ENST00000278174.5	-	2	324	c.79C>T	c.(79-81)Cgt>Tgt	p.R27C	BTBD10_ENST00000528120.1_Intron	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	27						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TAAAGTTTACGAGGTCTACTA	0.408000													40	56					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79772190	79772190	+	Missense_Mutation	SNP	G	G	A	rs55782848	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:79772190G>A	ENST00000335016.5	+	7	1029	c.863G>A	c.(862-864)cGt>cAt	p.R288H	BMP2K_ENST00000502871.1_Missense_Mutation_p.R288H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	288	Protein kinase.		R -> H.			nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CGTTACTCCCGTAACATACAT	0.358000													8	13					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89345081	89345081	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:89345081T>C	ENST00000380265.5	+	14	1966	c.1783T>C	c.(1783-1785)Ttt>Ctt	p.F595L	HERC6_ENST00000264346.7_Missense_Mutation_p.F595L	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	595					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CTTATTAAACTTTTATATAGA	0.308000													13	8					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27284162	27284162	+	Silent	SNP	C	C	T	rs138434918	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:27284162C>T	ENST00000358918.3	-	14	1999	c.1800G>A	c.(1798-1800)acG>acA	p.T600T	APP_ENST00000440126.3_Silent_p.T576T|APP_ENST00000439274.2_Silent_p.T544T|APP_ENST00000346798.3_Silent_p.T600T|APP_ENST00000359726.3_Silent_p.T544T|APP_ENST00000448388.2_Silent_p.T490T|APP_ENST00000348990.5_Silent_p.T525T|APP_ENST00000357903.3_Silent_p.T581T|APP_ENST00000354192.3_Silent_p.T469T	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	600					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CGGTGGTTTTCGTTTCGGTCA	0.502000													23	32					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854444	18854444	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:18854444C>A	ENST00000447925.2	-	9	1271	c.1002G>T	c.(1000-1002)aaG>aaT	p.K334N	PLCZ1_ENST00000539875.1_Missense_Mutation_p.K143N|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000435379.1_Missense_Mutation_p.K141N|PLCZ1_ENST00000266505.7_Missense_Mutation_p.K336N|PLCZ1_ENST00000541695.1_Missense_Mutation_p.K199N|PLCZ1_ENST00000538330.1_Missense_Mutation_p.K118N	NM_033123.3	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	336					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCTTCTTTTTCTTGAAAAGCA	0.313000													44	38					7.88023e-25	1.04645e-24	1	1	0
ITIH4	3700	broad.mit.edu	37	3	52852149	52852149	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:52852149G>A	ENST00000266041.4	-	20	2311	c.2215C>T	c.(2215-2217)Cct>Tct	p.P739S	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Missense_Mutation_p.P709S|ITIH4_ENST00000346281.5_Missense_Mutation_p.P723S|ITIH4_ENST00000485816.1_Missense_Mutation_p.P744S	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	739					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTCTGCCCAGGCAGTGGCAGG	0.667000													23	36					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31432905	31432905	+	Silent	SNP	G	G	T	rs146054932		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:31432905G>T	ENST00000261592.5	-	11	2115	c.1818C>A	c.(1816-1818)atC>atA	p.I606I	NOL4_ENST00000535384.1_Silent_p.I321I|NOL4_ENST00000269185.4_Silent_p.I390I|NOL4_ENST00000589544.1_Silent_p.I504I|NOL4_ENST00000538587.1_Silent_p.I532I|NOL4_ENST00000535475.1_Silent_p.I387I	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	606						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCACGGCATTGATTTCAGTTG	0.463000													30	16					2.4375e-19	3.09652e-19	1	1	0
NIPBL	25836	broad.mit.edu	37	5	37059083	37059083	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:37059083C>T	ENST00000282516.8	+	44	8000	c.7501C>T	c.(7501-7503)Cgg>Tgg	p.R2501W	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2501W	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2501					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTCCAGGCCTCGGAAGTCACG	0.378000													45	72					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357385	13357385	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:13357385G>T	ENST00000276297.4	-	2	605	c.196C>A	c.(196-198)Cat>Aat	p.H66N	DLC1_ENST00000511869.1_Missense_Mutation_p.H66N|DLC1_ENST00000316609.5_Missense_Mutation_p.H66N	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	66					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTGATCCATGACAGCAGTCA	0.453000													135	138					3.43777e-51	4.90073e-51	1	1	0
UQCC1	55245	broad.mit.edu	37	20	33969725	33969725	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:33969725T>G	ENST00000397554.1	-	4	339	c.329A>C	c.(328-330)aAa>aCa	p.K110T	UQCC1_ENST00000374384.2_Missense_Mutation_p.K110T|UQCC1_ENST00000374377.5_Intron|UQCC1_ENST00000542501.1_Missense_Mutation_p.K110T|UQCC1_ENST00000397556.3_Missense_Mutation_p.K11T|UQCC1_ENST00000407996.2_Intron|UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000540457.1_Intron|UQCC1_ENST00000374380.2_Intron|UQCC1_ENST00000374385.5_Missense_Mutation_p.K110T|UQCC1_ENST00000349714.5_Intron|UQCC1_ENST00000359226.2_Missense_Mutation_p.K110T					ubiquinol-cytochrome c reductase complex assembly factor 1	110																	CTTTACCCATTTACTGTATTT	0.393000													55	77					0	0	1	0	0
PPP2R3C	55012	broad.mit.edu	37	14	35554882	35554882	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:35554882C>T	ENST00000261475.5	-	13	1629	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	426						centrosome|nucleus	calcium ion binding	p.D426N(1)		central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		CCATTCAAATCGATTAGAATG	0.383000													22	36					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147503468	147503468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:147503468C>T	ENST00000359874.3	+	27	2684	c.2611C>T	c.(2611-2613)Cga>Tga	p.R871*	SPINK5_ENST00000398454.1_Nonsense_Mutation_p.R871*|SPINK5_ENST00000256084.7_Nonsense_Mutation_p.R871*	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	871	Kazal-like 13.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.R871*(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACCCTGTTCGAGGCCCATA	0.388000													3	37					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56563631	56563631	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:56563631T>G	ENST00000394023.3	-	24	2582	c.2477A>C	c.(2476-2478)aAg>aCg	p.K826T	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.K795T|SMARCC2_ENST00000347471.4_Missense_Mutation_p.K826T|SMARCC2_ENST00000550164.1_Missense_Mutation_p.K826T	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	795	Glu-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTCATCCTTCTTGGGAGCCTC	0.522000													59	63					0	0	1	0	0
ATXN3	4287	broad.mit.edu	37	14	92562453	92562453	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:92562453C>A	ENST00000545170.1	-	3	286	c.218G>T	c.(217-219)gGt>gTt	p.G73V	ATXN3_ENST00000340660.6_Missense_Mutation_p.G18V|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000393287.5_Missense_Mutation_p.G73V|ATXN3_ENST00000429774.2_Intron|ATXN3_ENST00000503767.1_Intron|ATXN3_ENST00000532032.1_Missense_Mutation_p.G73V|ATXN3_ENST00000502250.1_Intron	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	73	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AGAGAAAAAACCACTGTCATC	0.443000													30	48					2.42023e-17	3.00026e-17	1	1	0
TAGLN	6876	broad.mit.edu	37	11	117073783	117073783	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:117073783C>T	ENST00000532870.1	+	1	1195	c.54C>T	c.(52-54)atC>atT	p.I18I	TAGLN_ENST00000530649.1_Silent_p.I18I|TAGLN_ENST00000392951.4_Silent_p.I18I			Q01995	TAGL_HUMAN	transgelin	18					muscle organ development	cytoplasm	actin binding			central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		AGTCCAAAATCGAGAAGAAGT	0.607000													22	37					0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38975793	38975793	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:38975793C>T	ENST00000269576.5	-	6	1358	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	450	Coil 2.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TAGCAGGCTGCGGTAGGTTTG	0.398000													38	45					0	0	1	0	0
EIF3F	8665	broad.mit.edu	37	11	8016018	8016018	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:8016018G>A	ENST00000533626.1	+	7	1325	c.699G>A	c.(697-699)acG>acA	p.T233T	EIF3F_ENST00000309828.4_Silent_p.T233T|EIF3F_ENST00000537635.1_Silent_p.T248T|EIF3F_ENST00000449102.2_Silent_p.T84T			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	233						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGATGTTCACGCCTCTGACAG	0.527000													16	21					0	0	1	0	0
MEMO1	51072	broad.mit.edu	37	2	32145876	32145876	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:32145876C>A	ENST00000295065.5	-	4	625	c.316G>T	c.(316-318)Gac>Tac	p.D106Y	MEMO1_ENST00000490459.1_5'UTR|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.D109Y|MEMO1_ENST00000426310.2_Missense_Mutation_p.D83Y|MEMO1_ENST00000404530.1_Missense_Mutation_p.D106Y	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1						regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					CTCTTTTGGTCAATACGAAGG	0.338000													32	42					2.08457e-15	2.51687e-15	1	1	0
MAPK3	5595	broad.mit.edu	37	16	30134484	30134484	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:30134484C>A	ENST00000403394.1	-	1	146	c.47G>T	c.(46-48)aGa>aTa	p.R16I	MAPK3_ENST00000395199.3_Missense_Mutation_p.R16I|MAPK3_ENST00000263025.4_Missense_Mutation_p.R16I|MAPK3_ENST00000322266.5_Missense_Mutation_p.R16I|MAPK3_ENST00000395202.1_Missense_Mutation_p.R16I	NM_001040056.1	NP_001035145.1	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	16					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	CCCCTCGGTTCTACGGGGCTc	0.771000													8	9					7.48243e-07	8.04836e-07	1	1	0
ANKRD34B	340120	broad.mit.edu	37	5	79854806	79854806	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:79854806C>A	ENST00000338682.3	-	5	1705	c.1033G>T	c.(1033-1035)Gat>Tat	p.D345Y		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	345						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TGGTTAGAATCTGGGTCCTGG	0.413000													26	36					2.44723e-14	2.91644e-14	1	1	0
FOXG1	2290	broad.mit.edu	37	14	29237124	29237124	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:29237124G>T	ENST00000382535.3	+	2	1008	c.639G>T	c.(637-639)aaG>aaT	p.K213N	FOXG1_ENST00000313071.4_Missense_Mutation_p.K213N			P55316	FOXG1_HUMAN	forkhead box G1	213					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCATCATGAAGAACTTCCCTT	0.577000													21	44					8.10497e-08	8.84284e-08	1	1	0
ELTD1	64123	broad.mit.edu	37	1	79404909	79404909	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:79404909G>T	ENST00000370742.3	-	4	423	c.360C>A	c.(358-360)gtC>gtA	p.V120V		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	120					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CAGCTATACAGACATTATCTA	0.239000													8	12					0.000442599	0.00045576	1	1	0
NXPH4	11247	broad.mit.edu	37	12	57619127	57619127	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:57619127C>A	ENST00000349394.5	+	2	699	c.524C>A	c.(523-525)cCt>cAt	p.P175H	NXPH4_ENST00000555154.1_3'UTR	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	175	IV (linker domain).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GTCCCCCACCCTCTGCAGTCT	0.716000													73	70					3.1711e-36	4.41783e-36	1	1	0
MIR519C	574466	broad.mit.edu	37	19	54189770	54189770	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:54189770G>T	ENST00000385053.1	+	0	48					NR_030188.1																						TTGTCTGAAAGAAAAGAAAGT	0.418000													63	81					2.01871e-26	2.70429e-26	1	1	0
ZNF544	27300	broad.mit.edu	37	19	58773339	58773339	+	Missense_Mutation	SNP	G	G	T	rs140439680	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:58773339G>T	ENST00000269829.4	+	7	1841	c.1367G>T	c.(1366-1368)aGa>aTa	p.R456I	ZNF544_ENST00000596652.1_Missense_Mutation_p.R456I|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.R428I|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Missense_Mutation_p.R428I|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.R314I|ZNF544_ENST00000415203.2_Missense_Mutation_p.R428I	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GTACATCAGAGAATTCATACT	0.408000													43	53					1.32136e-16	1.62631e-16	1	1	0
EPS8	2059	broad.mit.edu	37	12	15818802	15818802	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:15818802A>G	ENST00000281172.5	-	8	1060	c.624T>C	c.(622-624)agT>agC	p.S208S	EPS8_ENST00000543612.1_Silent_p.S208S|EPS8_ENST00000543523.1_Silent_p.S208S	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	208					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GAGGCGGTATACTAGGGTCTG	0.483000													25	35					0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20003303	20003303	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:20003303G>T	ENST00000589717.1	+	4	1339	c.1247G>T	c.(1246-1248)aGa>aTa	p.R416I	CTC-559E9.8_ENST00000585571.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.R340I	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	416				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAACATAAAAGAACTCATACT	0.388000													20	38					4.96729e-08	5.42951e-08	1	1	0
CYP46A1	10858	broad.mit.edu	37	14	100165802	100165802	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:100165802G>T	ENST00000261835.3	+	4	386		c.e4-1		CYP46A1_ENST00000423126.2_Splice_Site	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1						bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGGATATTTAGAAGTTCCTGA	0.483000													161	191					8.21862e-84	1.18427e-83	1	1	0
CR2	1380	broad.mit.edu	37	1	207640138	207640138	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:207640138G>T	ENST00000367057.3	+	2	515	c.326G>T	c.(325-327)aGa>aTa	p.R109I	CR2_ENST00000367058.3_Missense_Mutation_p.R109I|CR2_ENST00000367059.3_Missense_Mutation_p.R109I|CR2_ENST00000458541.2_Missense_Mutation_p.R109I	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	109	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ACACCCTACAGACATGGTGAT	0.418000													37	45					1.36161e-19	1.73429e-19	1	1	0
NCOR2	9612	broad.mit.edu	37	12	124825226	124825226	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:124825226C>T	ENST00000356219.3	-	36	5436	c.5281G>A	c.(5281-5283)Gcc>Acc	p.A1761T	NCOR2_ENST00000404621.1_Missense_Mutation_p.A1744T|NCOR2_ENST00000405201.1_Missense_Mutation_p.A1754T|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1315T|NCOR2_ENST00000429285.2_Missense_Mutation_p.A1744T|NCOR2_ENST00000397355.1_Missense_Mutation_p.A1745T	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1762					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGGTCCATGGCGGTGGCTGGG	0.697000													5	2					0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5714240	5714240	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:5714240G>A	ENST00000360614.3	-	2	629	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	LONP1_ENST00000590729.1_Missense_Mutation_p.R44C|LONP1_ENST00000585374.1_Missense_Mutation_p.R44C|LONP1_ENST00000540670.2_5'UTR|LONP1_ENST00000593119.1_Missense_Mutation_p.R94C	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	158	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGGCGAGACGAACTTTCCTT	0.438000													40	47					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100395769	100395769	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:100395769A>C	ENST00000281806.2	-	3	575	c.261T>G	c.(259-261)ccT>ccG	p.P87P	MCHR2_ENST00000369212.2_Silent_p.P87P	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	87						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GAATAAGAAAAGGCATTCCAA	0.483000													55	56					0	0	1	0	0
PRPF18	8559	broad.mit.edu	37	10	13647673	13647673	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:13647673T>G	ENST00000378572.3	+	4	452	c.292T>G	c.(292-294)Ttt>Gtt	p.F98V		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	98					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AATCAGACTATTTGGAGAGAC	0.333000													78	85					0	0	1	0	0
SOX4	6659	broad.mit.edu	37	6	21596111	21596111	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:21596111A>G	ENST00000244745.1	+	1	2140	c.1346A>G	c.(1345-1347)tAc>tGc	p.Y449C	SOX4_ENST00000543472.1_Missense_Mutation_p.Y449C	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	449					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TTCCCGGACTACTGCACGCCC	0.617000													10	13					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	64026142	64026142	+	Splice_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:64026142C>A	ENST00000392769.2	-	13	1437		c.e13-1		CEP112_ENST00000537949.1_Splice_Site|CEP112_ENST00000535342.2_Splice_Site|CEP112_ENST00000541355.1_Splice_Site	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa							centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TCATGTGGTTCTAAAAGAACA	0.383000													17	21					4.75885e-15	5.725e-15	1	1	0
GGA3	23163	broad.mit.edu	37	17	73240753	73240753	+	Nonsense_Mutation	SNP	C	C	A	rs149401512		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:73240753C>A	ENST00000245541.6	-	4	463	c.247G>T	c.(247-249)Gaa>Taa	p.E83*	GGA3_ENST00000582486.1_Nonsense_Mutation_p.E11*|GGA3_ENST00000582717.1_Nonsense_Mutation_p.E11*|GGA3_ENST00000537686.1_Nonsense_Mutation_p.E83*|GGA3_ENST00000538886.1_Intron|GGA3_ENST00000578348.1_Intron|GGA3_ENST00000351904.7_Intron|GGA3_ENST00000579743.1_5'UTR	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	83	Binds to ARF1 (in long isoform).|VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TTCCCCACTTCGTTATGAAAT	0.522000													114	125					5.96743e-59	8.55491e-59	1	1	0
SUCLA2	8803	broad.mit.edu	37	13	48562693	48562693	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:48562693T>G	ENST00000378654.3	-	4	573	c.517A>C	c.(517-519)Atg>Ctg	p.M173L	SUCLA2_ENST00000544100.1_Missense_Mutation_p.M39L|SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000534875.1_Missense_Mutation_p.M115L|SUCLA2_ENST00000543413.1_Missense_Mutation_p.M115L	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	173	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	GACCTTTCCATTGTTATTGCA	0.343000													25	36					0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52217048	52217048	+	Missense_Mutation	SNP	G	G	A	rs145577853		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:52217048G>A	ENST00000540069.2	-	5	1426	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	HAS1_ENST00000601714.1_Missense_Mutation_p.R464C|HAS1_ENST00000222115.1_Missense_Mutation_p.R457C			Q92839	HAS1_HUMAN	hyaluronan synthase 1	457					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGCACCATGCGCAGGCAGCCC	0.692000													14	8					0	0	1	0	0
BRIX1	55299	broad.mit.edu	37	5	34923328	34923328	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:34923328C>T	ENST00000336767.5	+	8	1015	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	218	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GATATGGTTTCGGAACTTTCA	0.338000													30	30					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768328	31768328	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:31768328C>A	ENST00000240587.4	-	2	2698	c.2371G>T	c.(2371-2373)Gac>Tac	p.D791Y		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	791					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D791N(1)|p.D608N(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTTGTCAAGTCTATGGGCTGG	0.597000													39	28					3.62531e-18	4.54164e-18	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11049563	11049563	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:11049563G>T	ENST00000470054.1	-	0	545									B melanoma antigen family, member 2															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)		TAGTACAAAAGAACTGATCTA	0.423000													18	176					1.50039e-11	1.7204e-11	1	1	0
TCP10L	140290	broad.mit.edu	37	21	33951098	33951098	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:33951098T>C	ENST00000300258.3	-	4	517	c.404A>G	c.(403-405)gAt>gGt	p.D135G	TCP10L_ENST00000472557.1_Missense_Mutation_p.D49G	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TGTCTCTTCATCAGCTGACAG	0.413000													25	101					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159567974	159567974	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:159567974C>T	ENST00000307765.5	+	16	1628	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	RXFP1_ENST00000470033.1_Silent_p.F426F|RXFP1_ENST00000448688.2_Silent_p.F354F|RXFP1_ENST00000460056.2_Silent_p.F378F|RXFP1_ENST00000343542.5_Silent_p.F411F	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	459						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TATATTTATTCGTGATCGGAG	0.383000													49	61					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179421585	179421585	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179421585G>A	ENST00000589042.1	-	330	88520	c.88296C>T	c.(88294-88296)atC>atT	p.I29432I	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.I20367I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.I20559I|TTN_ENST00000359218.5_Silent_p.I20492I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I26864I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.I27791I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27791	Fibronectin type-III 114.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I26862I(1)|p.I20559I(1)|p.I20367I(1)		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)			CATAAGAATCGATGCAAGTAA	0.393000													17	15					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59210871	59210871	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:59210871C>A	ENST00000302030.2	+	1	255	c.230C>A	c.(229-231)tCt>tAt	p.S77Y		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ATCTGCTACTCTTCTGCTGTG	0.463000													68	71					3.30712e-30	4.52575e-30	1	1	0
CTSD	1509	broad.mit.edu	37	11	1780810	1780810	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:1780810G>A	ENST00000236671.2	-	3	420	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	96					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCCCGTGTCGAAGACGACTG	0.657000													39	34					0	0	1	0	0
ZNF252P	286101	broad.mit.edu	37	8	146202799	146202799	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:146202799C>T	ENST00000426361.2	-	0	1385					NR_023392.1															endometrium(1)	1						AGTAAGAGTTCGGTTCAGGCT	0.378000													5	4					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9484673	9484673	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:9484673C>T	ENST00000281419.3	+	10	1202	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	ASAP2_ENST00000315273.4_Missense_Mutation_p.R288C	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	288					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CTCCCAAATTCGTCAGAGCAC	0.443000													34	34					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75977907	75977907	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:75977907A>C	ENST00000308508.5	-	4	4017	c.3925T>G	c.(3925-3927)Tcc>Gcc	p.S1309A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1309	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCTCCTGGGAGAAGCTCTGC	0.652000													8	10					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2814965	2814965	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:2814965A>C	ENST00000301740.8	+	11	4985	c.4436A>C	c.(4435-4437)gAa>gCa	p.E1479A		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1479	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGGAGAAGCGAATGTGATTCT	0.537000													96	101					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43258414	43258414	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:43258414G>A	ENST00000290650.4	-	41	4606	c.4528C>T	c.(4528-4530)Cgc>Tgc	p.R1510C	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1510					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GCAGCACAGCGAAGATAAGGG	0.443000													27	31					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208341	58208341	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:58208341C>T	ENST00000377918.3	+	1	1687	c.1661C>T	c.(1660-1662)gCt>gTt	p.A554V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	554	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AAGGTGCTTGCTAAGGACTCG	0.582000													32	36					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13765053	13765053	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:13765053G>T	ENST00000380567.1	+	9	1261	c.389G>T	c.(388-390)aGa>aTa	p.R130I	OFD1_ENST00000398395.3_Missense_Mutation_p.R270I|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.R270I|OFD1_ENST00000380550.3_Missense_Mutation_p.R270I			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	270					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACCCTTGAAAGAATTCACAAG	0.398000													40	4					3.4345e-17	4.25364e-17	1	1	0
NOC3L	64318	broad.mit.edu	37	10	96121622	96121622	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:96121622T>G	ENST00000371361.3	-	2	117	c.17A>C	c.(16-18)aAt>aCt	p.N6T	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.N6T	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	6						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CTGTTTTTTATTTCTTCTCTA	0.289000													15	14					0	0	1	0	0
TNFSF13	8741	broad.mit.edu	37	17	7464115	7464115	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:7464115C>T	ENST00000349228.4	+	5	1234	c.670C>T	c.(670-672)Cca>Tca	p.P224S	TNFSF12_ENST00000557233.1_Missense_Mutation_p.P320S|TNFSF13_ENST00000396542.1_Missense_Mutation_p.P195S|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.P320S|TNFSF13_ENST00000338784.4_Missense_Mutation_p.P240S|TNFSF13_ENST00000380535.4_Missense_Mutation_p.P212S|TNFSF13_ENST00000396545.4_Missense_Mutation_p.P240S|TNFSF13_ENST00000483039.1_Missense_Mutation_p.P104S	NM_172087.2	NP_742084.1			tumor necrosis factor (ligand) superfamily, member 13											large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				TAACCTCTCTCCACATGGAAC	0.473000											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	84					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91483763	91483763	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:91483763A>C	ENST00000416354.1	+	14	1837	c.1765A>C	c.(1765-1767)Aat>Cat	p.N589H	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.N589H|KIF20B_ENST00000371728.3_Missense_Mutation_p.N589H|KIF20B_ENST00000394289.2_Missense_Mutation_p.N589H			Q96Q89	KI20B_HUMAN	kinesin family member 20B	589					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAACTGATAAATGAAAAAAA	0.279000													47	47					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099153	133099153	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:133099153C>T	ENST00000515826.1	+	3	721	c.598C>T	c.(598-600)Cga>Tga	p.R200*	TMEM108_ENST00000393130.3_Nonsense_Mutation_p.R200*|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Nonsense_Mutation_p.R200*			Q6UXF1	TM108_HUMAN	transmembrane protein 108	200						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACAGCGAGGACGAAATCCAAG	0.597000													25	31					0	0	1	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30793458	30793458	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:30793458G>A	ENST00000458257.1	+	2	277	c.263G>A	c.(262-264)cGc>cAc	p.R88H	INMT_ENST00000484180.1_3'UTR|INMT_ENST00000013222.5_Missense_Mutation_p.R89H|INMT_ENST00000409539.1_Missense_Mutation_p.R88H																							TTTACCGACCGCAACCGGGAG	0.557000													13	282					0	0	1	0	0
MRPL39	54148	broad.mit.edu	37	21	26978866	26978866	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:26978866T>G	ENST00000307301.7	-	2	216	c.175A>C	c.(175-177)Act>Cct	p.T59P	MRPL39_ENST00000352957.4_Missense_Mutation_p.T59P	NM_080794.3	NP_542984	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	59						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						GTTCGGGGAGTTAATGATAAC	0.413000													17	24					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103491404	103491404	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:103491404C>A	ENST00000358392.2	-	6	1202	c.885G>T	c.(883-885)aaG>aaT	p.K295N	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000370096.3_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	297	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTCTTCTTCTTGGATGAAA	0.358000													41	54					2.66277e-13	3.11962e-13	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118487671	118487671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:118487671C>T	ENST00000311085.8	+	19	4722	c.4642C>T	c.(4642-4644)Cga>Tga	p.R1548*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.R1548*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1548										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTTGGCTGTTCGACTCCATAC	0.378000													32	50					0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176561940	176561940	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:176561940G>A	ENST00000280187.7	-	6	627	c.582C>T	c.(580-582)gtC>gtT	p.V194V	GPM6A_ENST00000506894.1_Silent_p.V183V|GPM6A_ENST00000515090.1_Silent_p.V187V|GPM6A_ENST00000393658.2_Silent_p.V194V|GPM6A_ENST00000506219.1_5'UTR	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	194						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		AATTCTCAGAGACAGTACAAA	0.333000													20	21					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85677573	85677573	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:85677573C>A	ENST00000316824.3	+	2	605	c.450C>A	c.(448-450)gtC>gtA	p.V150V		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	150					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TGGAGAAAGTCTTTCAGAAAA	0.493000													62	93					4.10029e-35	5.7034e-35	1	1	0
MFSD1	64747	broad.mit.edu	37	3	158520061	158520061	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:158520061G>A	ENST00000415822.2	+	1	408	c.267G>A	c.(265-267)gcG>gcA	p.A89A	MFSD1_ENST00000392813.4_Silent_p.A89A|MFSD1_ENST00000264266.8_Silent_p.A40A	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	40					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTCGCCTGGCGCACCGGCTTT	0.672000													15	25					0	0	1	0	0
SMAD1	4086	broad.mit.edu	37	4	146436069	146436069	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:146436069G>T	ENST00000515385.1	+	2	846	c.304G>T	c.(304-306)Gaa>Taa	p.E102*	SMAD1_ENST00000394092.2_Nonsense_Mutation_p.E102*|SMAD1_ENST00000302085.4_Nonsense_Mutation_p.E102*|RP11-301H24.4_ENST00000513542.1_RNA			Q15797	SMAD1_HUMAN	SMAD family member 1	102	MH1.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					GAGCCACCATGAACTAAAACC	0.527000													8	118					0.27861	0.278924	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118433708	118433708	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:118433708G>A	ENST00000311085.8	+	2	202	c.122G>A	c.(121-123)gGa>gAa	p.G41E	DMXL1_ENST00000539542.1_Missense_Mutation_p.G41E	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	41										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTAATACTGGGAAGCGATTTT	0.328000													23	30					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125221229	125221229	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:125221229G>A	ENST00000298282.9	+	4	299	c.28G>A	c.(28-30)Gct>Act	p.A10T	PKNOX2_ENST00000530517.1_Intron|PKNOX2_ENST00000542175.1_5'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	10						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCCAGCCCCCGCTCTGACGAT	0.667000													5	9					0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	419792	419792	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:419792C>T	ENST00000354200.4	-	7	1063	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	306					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CGAGCAAGTTCGGATGGGGGA	0.577000													13	21					0	0	1	0	0
GINS3	64785	broad.mit.edu	37	16	58426587	58426587	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:58426587T>C	ENST00000318129.5	+	1	290	c.82T>C	c.(82-84)Tcc>Ccc	p.S28P	GINS3_ENST00000328514.7_Missense_Mutation_p.S28P|GINS3_ENST00000426538.2_Missense_Mutation_p.S28P	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	28					DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						CATCCTGATGTCCCACGAGAA	0.622000													28	40					0	0	1	0	0
EIF4EBP2	1979	broad.mit.edu	37	10	72179789	72179789	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:72179789G>T	ENST00000373218.4	+	2	288	c.265G>T	c.(265-267)Gaa>Taa	p.E89*		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	89					negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding			large_intestine(1)	1						CACCTTAATTGAAGACTCCAA	0.478000													44	51					1.7489e-18	2.19819e-18	1	1	0
SNTG2	54221	broad.mit.edu	37	2	1271232	1271232	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:1271232C>T	ENST00000308624.5	+	14	1302	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	SNTG2_ENST00000407292.1_Silent_p.I264I	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	391	PH.		I -> V (in dbSNP:rs13023962).		central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCTTCAGCATCGTGGCCGGCC	0.522000													12	16					0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220089866	220089866	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:220089866A>G	ENST00000409618.1	-	7	882	c.443T>C	c.(442-444)aTc>aCc	p.I148T	ATG9A_ENST00000396761.2_Missense_Mutation_p.I148T|ATG9A_ENST00000409422.1_Missense_Mutation_p.I87T|ATG9A_ENST00000361242.4_Missense_Mutation_p.I148T			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	148					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGAACTTGATAAGCCGGTG	0.512000													67	6					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941445	22941445	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:22941445C>A	ENST00000397104.3	-	5	992	c.993G>T	c.(991-993)gaG>gaT	p.E331D	ZNF99_ENST00000596209.1_Missense_Mutation_p.E422D					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGCAGGGTTTCTCTGCAGTAT	0.368000													36	27					4.00102e-26	5.35175e-26	1	1	0
PLK4	10733	broad.mit.edu	37	4	128807853	128807853	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:128807853C>A	ENST00000270861.5	+	5	1602	c.1328C>A	c.(1327-1329)tCt>tAt	p.S443Y	PLK4_ENST00000514379.1_Missense_Mutation_p.S402Y|PLK4_ENST00000507249.1_Intron|PLK4_ENST00000513090.1_Missense_Mutation_p.S411Y|PLK4_ENST00000515069.1_Missense_Mutation_p.S443Y	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	443					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AGTTCTGGATCTTTTGAAAGA	0.343000													16	8					6.72482e-11	7.66641e-11	1	1	0
CD1D	912	broad.mit.edu	37	1	158152835	158152835	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:158152835G>A	ENST00000368171.3	+	5	1274	c.775G>A	c.(775-777)Gag>Aag	p.E259K		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	259	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CAATGCTGACGAGACATGGTA	0.602000													66	66					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75886357	75886357	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:75886357T>G	ENST00000274364.6	+	8	1062	c.765T>G	c.(763-765)taT>taG	p.Y255*	IQGAP2_ENST00000379730.3_De_novo_Start_OutOfFrame	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	255					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CACCAGAATATCAGAAAGAAC	0.368000													31	31					0	0	1	0	0
SNX15	29907	broad.mit.edu	37	11	64802428	64802428	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:64802428C>A	ENST00000377244.3	+	4	496	c.366C>A	c.(364-366)ttC>ttA	p.F122L	SNX15_ENST00000352068.5_Missense_Mutation_p.F122L|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	122	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TCAAGGAGTTCTTCCGGGTAT	0.577000													24	25					6.44725e-10	7.24009e-10	1	1	0
TMEM202	338949	broad.mit.edu	37	15	72691082	72691082	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:72691082G>A	ENST00000341689.3	+	2	224	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	57						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATCTACATCCGAACGCTCTGT	0.517000													34	44					0	0	1	0	0
SOHLH2	54937	broad.mit.edu	37	13	36764174	36764174	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:36764174C>A	ENST00000379881.3	-	6	638	c.550G>T	c.(550-552)Ggc>Tgc	p.G184C	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.G261C|SOHLH2_ENST00000554962.1_Missense_Mutation_p.G261C|SOHLH2_ENST00000317764.6_Missense_Mutation_p.G184C	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		AGCCCATTGCCATTCCTTAAA	0.343000													23	38					1.85244e-09	2.06718e-09	1	1	0
IL3RA	3563	broad.mit.edu	37	X	1460658	1460658	+	Translation_Start_Site	SNP	G	G	A	rs150758817		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:1460658G>A	ENST00000331035.4	+	0	349				IL3RA_ENST00000381469.2_5'Flank	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)							integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTGCGTTCCCGATGGTCCTCC	0.587000													56	76					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91692780	91692780	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:91692780G>A	ENST00000375835.4	-	3	890	c.584C>T	c.(583-585)gCg>gTg	p.A195V	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	195	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GGCTCCCTTCGCACCAGGCAC	0.478000													30	36					0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14602291	14602291	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:14602291G>T	ENST00000274217.3	+	5	468		c.e5-1			NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A											large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TATTTTATTAGGCTTATGAGG	0.343000													7	5					1.12685e-05	1.18835e-05	1	1	0
SYCP2	10388	broad.mit.edu	37	20	58441368	58441368	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:58441368C>A	ENST00000357552.3	-	41	4525	c.4300G>T	c.(4300-4302)Gat>Tat	p.D1434Y	SYCP2_ENST00000371001.2_Missense_Mutation_p.D1434Y			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1434					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTTTCCAAATCTTTTAAAGAC	0.244000													12	25					2.80697e-09	3.12127e-09	1	1	0
RYR3	6263	broad.mit.edu	37	15	34130757	34130757	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:34130757C>T	ENST00000389232.4	+	89	12646	c.12576C>T	c.(12574-12576)ttC>ttT	p.F4192F	RYR3_ENST00000415757.3_Silent_p.F4187F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4192					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGATGCTGTTCGTGGGGCTAT	0.517000													19	22					0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63282880	63282880	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:63282880C>T	ENST00000366671.3	+	5	770	c.494C>T	c.(493-495)gCg>gTg	p.A165V	OTX1_ENST00000282549.2_Missense_Mutation_p.A165V	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	165						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GTGGCGGCCGCGTCGTCGCTG	0.697000													18	18					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96315257	96315257	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:96315257C>A	ENST00000231368.5	+	2	1127	c.435C>A	c.(433-435)aaC>aaA	p.N145K	LNPEP_ENST00000395770.3_Missense_Mutation_p.N131K	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	145					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		ATAAAAAAAACCAGTCAATTG	0.438000													56	60					2.01807e-28	2.7455e-28	1	1	0
FERD3L	222894	broad.mit.edu	37	7	19184565	19184565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:19184565C>T	ENST00000275461.3	-	1	479	c.421G>A	c.(421-423)Gag>Aag	p.E141K	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	141	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CGGAGGGTCTCGATCCGGGAC	0.572000													33	33					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76937179	76937179	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:76937179C>T	ENST00000373344.5	-	9	3783	c.3569G>A	c.(3568-3570)aGa>aAa	p.R1190K	ATRX_ENST00000395603.3_Missense_Mutation_p.R1152K|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1190					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGTGCTTGTTCTTAGGGAGTT	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						39	5					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356315	42356315	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:42356315C>T	ENST00000554171.1	+	5	2919	c.487C>T	c.(487-489)Cct>Tct	p.P163S	LRFN5_ENST00000554120.1_Missense_Mutation_p.P163S|LRFN5_ENST00000298119.4_Missense_Mutation_p.P163S			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	163						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGAAACCATTCCTTGGGATGC	0.413000										HNSCC(30;0.082)			30	22					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66933114	66933114	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:66933114C>A	ENST00000269080.2	-	4	581	c.444G>T	c.(442-444)aaG>aaT	p.K148N	ABCA8_ENST00000430352.2_Missense_Mutation_p.K148N|ABCA8_ENST00000586539.1_Missense_Mutation_p.K148N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	148						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGTGCTCCTTCTTTGCTGGCA	0.348000													18	31					3.52763e-06	3.75281e-06	1	1	0
ROCK2	9475	broad.mit.edu	37	2	11361431	11361431	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:11361431G>A	ENST00000315872.6	-	9	1600	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	ROCK2_ENST00000401753.1_Silent_p.F141F	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	384	AGC-kinase C-terminal.|Interaction with NPM1.|Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAATGTCATCGAAATTGCTGC	0.368000													13	91					0	0	1	0	0
GUF1	60558	broad.mit.edu	37	4	44680749	44680749	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:44680749G>A	ENST00000281543.5	+	1	304	c.110G>A	c.(109-111)gGg>gAg	p.G37E	GUF1_ENST00000506793.1_Intron	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	37					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						CCGACCCTTGGGGCTGCTCCA	0.672000													9	6					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57971627	57971627	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:57971627C>A	ENST00000302592.6	-	1	26	c.27G>T	c.(25-27)caG>caT	p.Q9H		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TTCTGCTGATCTGAAGAAAGG	0.418000													34	47					2.46105e-21	3.181e-21	1	1	0
SSH2	85464	broad.mit.edu	37	17	27963104	27963104	+	Missense_Mutation	SNP	C	C	T	rs140734654		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:27963104C>T	ENST00000269033.3	-	14	2214	c.2063G>A	c.(2062-2064)cGa>cAa	p.R688Q	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.R715Q	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	688					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTGACAGTCGACAGCTCTC	0.493000													10	132					0	0	1	0	0
TIFA	92610	broad.mit.edu	37	4	113199378	113199378	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:113199378A>G	ENST00000361717.3	-	2	476	c.195T>C	c.(193-195)gtT>gtC	p.V65V	TIFA_ENST00000500655.2_Silent_p.V65V	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain		FHA.						protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		GAACTCGGGAAACCTGTTTGT	0.373000													43	65					0	0	1	0	0
SCAMP4	113178	broad.mit.edu	37	19	1924217	1924217	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:1924217C>A	ENST00000316097.8	+	7	891	c.624C>A	c.(622-624)ttC>ttA	p.F208L	SCAMP4_ENST00000409472.1_Missense_Mutation_p.F174L	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	208					protein transport	integral to membrane							Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAACAACTTCTCAGGCAACA	0.662000													6	13					8.12818e-05	8.45312e-05	1	1	0
CPNE4	131034	broad.mit.edu	37	3	131300462	131300462	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:131300462A>C	ENST00000512055.1	-	13	2954	c.828T>G	c.(826-828)aaT>aaG	p.N276K	CPNE4_ENST00000429747.1_Missense_Mutation_p.N276K|CPNE4_ENST00000511604.1_Missense_Mutation_p.N276K|CPNE4_ENST00000502818.1_Missense_Mutation_p.N294K|CPNE4_ENST00000512332.1_Missense_Mutation_p.N294K			Q96A23	CPNE4_HUMAN	copine IV	276										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AGTTCTTGTAATTCTTCTTCT	0.448000													34	38					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95078003	95078003	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:95078003T>C	ENST00000545558.1	-	7	1396	c.904A>G	c.(904-906)Act>Gct	p.T302A	NOL8_ENST00000542053.1_Missense_Mutation_p.T234A|NOL8_ENST00000442668.2_Missense_Mutation_p.T302A|NOL8_ENST00000535387.1_Missense_Mutation_p.T302A|NOL8_ENST00000358855.4_Missense_Mutation_p.T234A			Q76FK4	NOL8_HUMAN	nucleolar protein 8	302					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCAGAATCAGTATCATCATCA	0.358000													4	14					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42139154	42139154	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:42139154C>T	ENST00000401548.3	+	12	1442	c.1402C>T	c.(1402-1404)Cga>Tga	p.R468*	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Nonsense_Mutation_p.R208*|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	468							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATGCTAAACCGATGTGCGGA	0.532000													20	12					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42473707	42473707	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:42473707G>T	ENST00000545399.1	-	19	2760	c.2607C>A	c.(2605-2607)ttC>ttA	p.F869L	ATP1A3_ENST00000602133.1_Missense_Mutation_p.F826L|ATP1A3_ENST00000302102.5_Missense_Mutation_p.F856L|ATP1A3_ENST00000543770.1_Missense_Mutation_p.F867L	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	856					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.F856L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGTAAGAGAAGAAGCCACCGA	0.592000													27	121					2.4375e-19	3.09652e-19	1	1	0
RAB5B	5869	broad.mit.edu	37	12	56380826	56380826	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:56380826G>A	ENST00000360299.5	+	2	303	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	RAB5B_ENST00000553116.1_Missense_Mutation_p.E28K|RAB5B_ENST00000448789.2_Missense_Mutation_p.E28K	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	28					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			CCTGCTGGGAGAATCTGCAGT	0.507000													29	31					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902342	51902342	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:51902342G>T	ENST00000268919.4	+	1	2104	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	650					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAGAAAATTGATGCTCTGAC	0.458000													26	33					3.6726e-16	4.49736e-16	1	1	0
ANK2	287	broad.mit.edu	37	4	114275856	114275856	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:114275856C>T	ENST00000357077.4	+	38	6135	c.6082C>T	c.(6082-6084)Cgg>Tgg	p.R2028W	ANK2_ENST00000264366.6_Missense_Mutation_p.R1995W|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1995					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R2028W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGTAAAGTTCGGGTAGAAAA	0.463000													72	75					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159573038	159573038	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:159573038G>T	ENST00000307765.5	+	18	2356	c.2105G>T	c.(2104-2106)aGa>aTa	p.R702I	RXFP1_ENST00000470033.1_Missense_Mutation_p.R669I|RXFP1_ENST00000448688.2_Missense_Mutation_p.R597I|RXFP1_ENST00000460056.2_Missense_Mutation_p.R621I|RXFP1_ENST00000343542.5_Missense_Mutation_p.R654I	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	702						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TACAGACAAAGAAAATCTATG	0.413000													45	44					1.17962e-10	1.33906e-10	1	1	0
PDE1A	5136	broad.mit.edu	37	2	183066204	183066204	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:183066204G>A	ENST00000435564.1	-	10	1335	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	PDE1A_ENST00000410103.1_Missense_Mutation_p.R379W|PDE1A_ENST00000346717.4_Missense_Mutation_p.R345W|PDE1A_ENST00000358139.2_Missense_Mutation_p.R379W|PDE1A_ENST00000456212.1_Missense_Mutation_p.R379W|PDE1A_ENST00000536095.1_Missense_Mutation_p.R275W|PDE1A_ENST00000331935.6_Missense_Mutation_p.R379W|PDE1A_ENST00000351439.5_Missense_Mutation_p.R363W|PDE1A_ENST00000409365.1_Missense_Mutation_p.R363W	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	379	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ATGGTCCACCGATAATGCAGC	0.483000													51	61					0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143085633	143085633	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:143085633G>A	ENST00000322764.5	+	7	1541	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	ZYX_ENST00000449423.2_Missense_Mutation_p.R312H|ZYX_ENST00000392910.2_Missense_Mutation_p.R242H	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	399	LIM zinc-binding 1.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CCAGCCGTCCGCGCTCTAGGG	0.627000													47	66					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70413259	70413259	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:70413259C>T	ENST00000377844.4	-	6	2022	c.1263G>A	c.(1261-1263)aaG>aaA	p.K421K	KLHL1_ENST00000545028.1_Silent_p.K228K	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	421					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCAGATCATTCTTAAATAATG	0.323000													32	47					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57971523	57971523	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:57971523A>C	ENST00000302592.6	-	1	130	c.131T>G	c.(130-132)tTc>tGc	p.F44C		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CATACTCAGGAAAAGCACAAA	0.458000													57	56					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196749455	196749455	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:196749455G>T	ENST00000312428.6	-	35	5717	c.5617C>A	c.(5617-5619)Ctt>Att	p.L1873I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1873					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGTTCTCGAAGAATCTTATTA	0.388000													15	3					1.3612e-06	1.45828e-06	1	1	0
ARHGAP18	93663	broad.mit.edu	37	6	129899675	129899675	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:129899675T>G	ENST00000368149.2	-	15	2063	c.1975A>C	c.(1975-1977)Aag>Cag	p.K659Q	ARHGAP18_ENST00000463225.1_5'UTR	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	659					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGCTTTGACTTTATAACCCAC	0.383000													28	28					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169483551	169483551	+	Nonstop_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:169483551C>A	ENST00000367796.3	-	25	6891	c.6690G>T	c.(6688-6690)taG>taT	p.*2230Y	F5_ENST00000367797.3_Nonstop_Mutation_p.*2225Y			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	0					cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATGTTCAATTCTAGTAAATAT	0.383000													26	48					9.86323e-18	1.22813e-17	1	1	0
CDK12	51755	broad.mit.edu	37	17	37676315	37676315	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:37676315G>A	ENST00000447079.4	+	11	3103	c.3070G>A	c.(3070-3072)Gaa>Aaa	p.E1024K	CDK12_ENST00000430627.2_Missense_Mutation_p.E1024K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1024					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E1024*(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TAAAGATGTCGAACTCAGCAA	0.468000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			17	57					0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28605706	28605706	+	Missense_Mutation	SNP	G	G	A	rs143630873		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:28605706G>A	ENST00000253063.3	+	9	1631	c.1310G>A	c.(1309-1311)cGa>cAa	p.R437Q		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	437					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		AAGACCACCCGAAGAATGTAC	0.522000													36	58					0	0	1	0	0
HSPB3	8988	broad.mit.edu	37	5	53751815	53751815	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:53751815G>A	ENST00000302005.1	+	1	371	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	66					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				GCCACCCCGAGAAGGCAAATC	0.557000													43	39					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7625534	7625534	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:7625534G>A	ENST00000221249.6	+	32	4017	c.3586G>A	c.(3586-3588)Gat>Aat	p.D1196N	PNPLA6_ENST00000545201.2_Splice_Site_p.D1169N|PNPLA6_ENST00000450331.3_Splice_Site_p.D1196N|PNPLA6_ENST00000414982.3_Splice_Site_p.D1244N|PNPLA6_ENST00000600737.1_Splice_Site_p.D1234N	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1235					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TTTCCCACAGGATGTGGGCTA	0.562000													19	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179613710	179613710	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179613710G>T	ENST00000360870.5	-	46	13639	c.13417C>A	c.(13417-13419)Cta>Ata	p.L4473I	TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	603							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)			CTTTTTTCTAGAACTCCTTTT	0.343000													30	29					7.26314e-15	8.70043e-15	1	1	0
LOC100505782	100505782	broad.mit.edu	37	17	39567645	39567645	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:39567645C>T	ENST00000432258.1	+	0	2103				AC003958.2_ENST00000430006.1_RNA																							CTGGTAGTTTCGGCACACGCT	0.572000													16	15					0	0	1	0	0
SPRTN	83932	broad.mit.edu	37	1	231487325	231487325	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:231487325C>T	ENST00000391858.4	+	4	2006	c.726C>T	c.(724-726)ttC>ttT	p.F242F	SPRTN_ENST00000008440.9_Silent_p.F199F|SPRTN_ENST00000295050.7_Intron|SPRTN_ENST00000469904.1_Intron					SprT-like N-terminal domain																		AAGGTACCTTCGTGTATATTC	0.358000													32	39					0	0	1	0	0
SUV39H2	79723	broad.mit.edu	37	10	14923574	14923574	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:14923574C>T	ENST00000378325.3	+	2	133	c.107C>T	c.(106-108)tCg>tTg	p.S36L	SUV39H2_ENST00000313519.5_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.S36L	NM_001193426.1|NM_001193427.1	NP_001180355.1|NP_001180356.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	36					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						ACATGTAAATCGATTGGAATC	0.358000													35	50					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32697163	32697163	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:32697163C>A	ENST00000335185.5	-	9	636	c.593G>T	c.(592-594)aGa>aTa	p.R198I	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	198										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGCTGAAAGTCTTTTGTTTGA	0.259000													10	13					0.010729	0.0108738	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11058204	11058204	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:11058204G>T	ENST00000470054.1	-	0	443									B melanoma antigen family, member 2															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)		AAAGCAGGAAGATGTGACTGA	0.403000													11	77					9.70103e-10	1.0878e-09	1	1	0
TMEM63C	57156	broad.mit.edu	37	14	77715770	77715770	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:77715770C>A	ENST00000298351.4	+	21	2151	c.2007C>A	c.(2005-2007)ttC>ttA	p.F669L		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	669						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TGGGTCTGTTCTGGATGCTGT	0.557000													24	31					2.89027e-11	3.30697e-11	1	1	0
KIF27	55582	broad.mit.edu	37	9	86457248	86457248	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:86457248C>A	ENST00000297814.2	-	17	3768	c.3625G>T	c.(3625-3627)Gat>Tat	p.D1209Y	KIF27_ENST00000334204.2_Missense_Mutation_p.D1112Y|RP11-575L7.4_ENST00000591217.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.D1143Y	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1209					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AAATAAAGATCTTTTTCCAAC	0.358000													4	26					0.00909568	0.00922191	1	1	0
AREL1	9870	broad.mit.edu	37	14	75138126	75138126	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:75138126A>C	ENST00000356357.4	-	12	1998	c.1483T>G	c.(1483-1485)Ttc>Gtc	p.F495V	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		TCATCCTGGAAAACAACCTCA	0.373000													28	30					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186121939	186121939	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:186121939T>A	ENST00000271588.4	+	96	15183	c.14954T>A	c.(14953-14955)cTg>cAg	p.L4985Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.L4985Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4985	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGTTCTTTGCTGCTAGATATC	0.423000													45	64					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44188330	44188330	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:44188330C>A	ENST00000291539.6	+	16	1449	c.1389C>A	c.(1387-1389)atC>atA	p.I463I	PDE9A_ENST00000398236.3_Silent_p.I377I|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398227.3_Silent_p.I303I|PDE9A_ENST00000349112.3_Silent_p.I335I|PDE9A_ENST00000539837.1_Silent_p.I335I|PDE9A_ENST00000398225.3_Silent_p.I422I|PDE9A_ENST00000328862.6_Silent_p.I437I|PDE9A_ENST00000398232.3_Silent_p.I396I|PDE9A_ENST00000335440.6_Silent_p.I361I|PDE9A_ENST00000398229.3_Silent_p.I329I|PDE9A_ENST00000335512.4_Silent_p.I403I|PDE9A_ENST00000398224.3_Silent_p.I336I|PDE9A_ENST00000398234.3_Silent_p.I362I|PDE9A_ENST00000380328.2_Silent_p.I410I	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	463	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GCTGTGATATCTCTAACGAGG	0.453000													28	22					2.61193e-14	3.10994e-14	1	1	0
SCAF4	57466	broad.mit.edu	37	21	33044145	33044145	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:33044145G>T	ENST00000286835.7	-	20	3393	c.3011C>A	c.(3010-3012)tCt>tAt	p.S1004Y	SCAF4_ENST00000434667.3_Missense_Mutation_p.S989Y|SCAF4_ENST00000399804.1_Missense_Mutation_p.S982Y	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1004						nucleus	nucleotide binding|RNA binding	p.S1004Y(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ATTTCCAAAAGATCTTCTTCC	0.468000													83	85					2.43199e-30	3.33071e-30	1	1	0
TMEM164	84187	broad.mit.edu	37	X	109416481	109416481	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:109416481A>C	ENST00000372073.1	+	7	1032	c.696A>C	c.(694-696)gaA>gaC	p.E232D	TMEM164_ENST00000372072.3_Missense_Mutation_p.E83D|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372068.2_Missense_Mutation_p.E232D|TMEM164_ENST00000288381.4_Missense_Mutation_p.E193D			Q5U3C3	TM164_HUMAN	transmembrane protein 164	232						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						AGGTCACCGAAGTGAATTTGA	0.547000													38	2					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96805628	96805628	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:96805628C>A	ENST00000371270.3	-	6	994	c.900G>T	c.(898-900)gaG>gaT	p.E300D	CYP2C8_ENST00000539050.1_Missense_Mutation_p.E214D|CYP2C8_ENST00000535898.1_Missense_Mutation_p.E198D	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	300					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGCTTGTTGTCTCTGTTCCAG	0.428000													39	63					3.21399e-22	4.18667e-22	1	1	0
MMADHC	27249	broad.mit.edu	37	2	150426583	150426583	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:150426583G>A	ENST00000428879.1	-	7	1300	c.796C>T	c.(796-798)Cgt>Tgt	p.R266C	MMADHC_ENST00000303319.5_Missense_Mutation_p.R266C|MMADHC_ENST00000422782.2_Missense_Mutation_p.R300C			Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	266						mitochondrion				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						AGACTATGACGAATCACTTTA	0.388000													31	35					0	0	1	0	0
TMEM11	8834	broad.mit.edu	37	17	21101654	21101654	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:21101654C>T	ENST00000317635.5	-	2	1033	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	TMEM11_ENST00000584432.1_5'UTR	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN	transmembrane protein 11	188					mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding	p.E188K(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						GCATAGAGTTCGTAAATCTTC	0.532000													71	105					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28845698	28845698	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:28845698C>A	ENST00000336783.4	+	17	2374	c.2207C>A	c.(2206-2208)tCa>tAa	p.S736*	ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.S742*|ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.S736*|ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.S736*|ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.S736*|ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.S736*|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.S736*|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000565845.1_3'UTR	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	736						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GTATCCAATTCAGTGCCTGGG	0.607000													50	66					1.86277e-20	2.3955e-20	1	1	0
TTN	7273	broad.mit.edu	37	2	179397883	179397883	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179397883G>T	ENST00000589042.1	-	358	103683	c.103459C>A	c.(103459-103461)Ctt>Att	p.L34487I	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L25422I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L25614I|TTN_ENST00000359218.5_Missense_Mutation_p.L25547I|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L31919I|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L32846I|TTN-AS1_ENST00000431259.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32846							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)			GTTCCAGAAAGAATTTCAGCC	0.443000													59	81					1.14385e-22	1.49734e-22	1	1	0
POU4F2	5458	broad.mit.edu	37	4	147561068	147561068	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:147561068C>T	ENST00000281321.3	+	2	586	c.338C>T	c.(337-339)gCt>gTt	p.A113V		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	113					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCGCCGAGGCTCTGGCAGCC	0.577000													37	28					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5126418	5126418	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:5126418T>G	ENST00000381652.3	+	24	3757	c.3263T>G	c.(3262-3264)tTa>tGa	p.L1088*	JAK2_ENST00000539801.1_Nonsense_Mutation_p.L1088*|JAK2_ENST00000487310.1_3'UTR|JAK2_ENST00000544510.1_Nonsense_Mutation_p.L939*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1088	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AATGGAAGATTACCAAGACCA	0.358000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				21	32					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89931090	89931090	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:89931090G>T	ENST00000405460.2	+	10	2095	c.1999G>T	c.(1999-2001)Gat>Tat	p.D667Y		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	667					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		TGAACCAGAAGATTTTGCTGC	0.368000													54	80					1.16596e-39	1.63676e-39	1	1	0
DYRK1A	1859	broad.mit.edu	37	21	38853090	38853090	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:38853090G>A	ENST00000339659.4	+	4	1921	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	DYRK1A_ENST00000451934.1_Missense_Mutation_p.E160K|DYRK1A_ENST00000398960.2_Missense_Mutation_p.E160K|DYRK1A_ENST00000338785.3_Missense_Mutation_p.E160K|DYRK1A_ENST00000321219.8_Missense_Mutation_p.E160K|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000398956.2_Missense_Mutation_p.E160K	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A						nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.E160K(2)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGATCGTTACGAAATTGACTC	0.333000													33	37					0	0	1	0	0
PSAT1	29968	broad.mit.edu	37	9	80912146	80912146	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:80912146T>G	ENST00000376588.3	+	1	88	c.20T>G	c.(19-21)gTg>gGg	p.V7G	PSAT1_ENST00000347159.2_Missense_Mutation_p.V7G	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	7					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	CCCAGGCAGGTGGTCAACTTT	0.711000													7	12					0	0	1	0	0
PARL	55486	broad.mit.edu	37	3	183551325	183551325	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:183551325T>G	ENST00000317096.4	-	9	1043	c.983A>C	c.(982-984)aAa>aCa	p.K328T	PARL_ENST00000435888.1_Missense_Mutation_p.K244T|PARL_ENST00000311101.5_Missense_Mutation_p.K278T	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	328					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATCAAAAAATTTCCATCCCAG	0.478000													22	21					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47958662	47958662	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:47958662G>A	ENST00000426837.2	-	8	793	c.706C>T	c.(706-708)Ccc>Tcc	p.P236S	MAP4_ENST00000360240.6_Missense_Mutation_p.P219S|MAP4_ENST00000383737.4_Missense_Mutation_p.P219S|MAP4_ENST00000395734.3_Missense_Mutation_p.P219S			P27816	MAP4_HUMAN	microtubule-associated protein 4	219					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		AGCTCTAAGGGAACTAAATTG	0.413000													39	56					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903222	129903222	+	Silent	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:129903222T>G	ENST00000368654.3	-	13	7257	c.6882A>C	c.(6880-6882)ggA>ggC	p.G2294G	MKI67_ENST00000368653.3_Silent_p.G1934G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2294	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGGTAAATTTCCTGGCAGGT	0.498000													160	139					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38942154	38942154	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:38942154C>A	ENST00000359357.3	+	83	12286	c.12032C>A	c.(12031-12033)tCt>tAt	p.S4011Y	DNAH8_ENST00000441566.1_Missense_Mutation_p.S3975Y					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGACAGACCTCTCTCAAATTC	0.338000													10	55					2.17888e-05	2.28784e-05	1	1	0
COPB1	1315	broad.mit.edu	37	11	14486469	14486469	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:14486469A>C	ENST00000249923.3	-	18	2698	c.2398T>G	c.(2398-2400)Ttt>Gtt	p.F800V	COPB1_ENST00000439561.2_Missense_Mutation_p.F800V	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	800					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						ATATTACCAAAAATTATTCCA	0.363000													13	30					0	0	1	0	0
EMC3	55831	broad.mit.edu	37	3	10015338	10015338	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:10015338G>A	ENST00000245046.2	-	5	926	c.468C>T	c.(466-468)atC>atT	p.I156I	EMC3_ENST00000497557.1_5'UTR|EMC3_ENST00000429759.1_Silent_p.I194I	NM_018447.2	NP_060917.1			ER membrane protein complex subunit 3																		TGAGTAGCTCGATTCCTTGCT	0.428000													38	64					0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56146393	56146393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:56146393C>A	ENST00000416613.1	+	42	4131	c.4059C>A	c.(4057-4059)taC>taA	p.Y1353*	KTN1_ENST00000395311.1_Nonsense_Mutation_p.Y1302*|KTN1_ENST00000438792.2_Nonsense_Mutation_p.Y1296*|KTN1_ENST00000395308.1_Nonsense_Mutation_p.Y1302*|KTN1_ENST00000395309.3_Nonsense_Mutation_p.Y1353*|KTN1_ENST00000413890.2_Nonsense_Mutation_p.Y1302*|KTN1_ENST00000554507.1_Nonsense_Mutation_p.Y591*|KTN1_ENST00000555573.1_Nonsense_Mutation_p.Y330*|KTN1_ENST00000395314.3_Nonsense_Mutation_p.Y1353*			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1353					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AAGAGCACTACCAGGTGTTAG	0.388000			T	RET	papillary thryoid								70	78					2.17402e-21	2.8134e-21	1	1	0
KCNAB1	7881	broad.mit.edu	37	3	155861034	155861034	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:155861034G>A	ENST00000471742.1	+	1	284	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Intron	NM_003471.3	NP_003462.2	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	316						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAATCCAGTGAATCGGCTCT	0.512000													19	27					0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5246876	5246876	+	Missense_Mutation	SNP	C	C	A	rs63750320		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:5246876C>A	ENST00000335295.4	-	3	445	c.396G>T	c.(394-396)caG>caT	p.Q132H		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta				Q -> E (in Camden/Tokuchi/Motown).|Q -> K (in Shelby/Leslie/Deaconess; unstable).|Q -> P (in Shangai; unstable).|Q -> R (in Sarrebourg; unstable).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CCACCACTTTCTGATAGGCAG	0.512000									Sickle Cell Trait				66	76					7.05995e-25	9.37985e-25	1	1	0
IL18RAP	8807	broad.mit.edu	37	2	103061722	103061722	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:103061722C>T	ENST00000264260.2	+	9	1583	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	IL18RAP_ENST00000409369.1_Missense_Mutation_p.R190C	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	332	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GCGTGATCTTCGCAGGAAGTT	0.423000													23	37					0	0	1	0	0
CBX5	23468	broad.mit.edu	37	12	54651351	54651351	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:54651351C>T	ENST00000209875.4	-	2	220	c.84G>A	c.(82-84)agG>agA	p.R28R	CBX5_ENST00000439541.2_Silent_p.R28R|CBX5_ENST00000550411.1_Silent_p.R28R	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	28	Chromo 1.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TAACCACGCGCCTGTCTAGCA	0.488000													43	74					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824013	54824013	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:54824013C>A	ENST00000243911.2	+	1	226	c.114C>A	c.(112-114)gtC>gtA	p.V38V		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	75					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.V75V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GTGAGCAGGTCTTCATCAAGC	0.582000													66	79					1.15062e-32	1.58847e-32	1	1	0
ARL6IP5	10550	broad.mit.edu	37	3	69134240	69134240	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:69134240C>A	ENST00000273258.3	+	1	146	c.42C>A	c.(40-42)ttC>ttA	p.F14L	ARL6IP5_ENST00000478935.1_Missense_Mutation_p.F14L	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation-like factor 6 interacting protein 5	14					L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		GGGACGATTTCTTCCCGGGTT	0.582000													39	44					4.00102e-26	5.35175e-26	1	1	0
BPIFB6	128859	broad.mit.edu	37	20	31628115	31628115	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:31628115C>A	ENST00000349552.1	+	11	1133	c.1133C>A	c.(1132-1134)tCt>tAt	p.S378Y		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	378						extracellular region	lipid binding										ATGGCCACTTCTTTGGACAGG	0.557000													25	20					1.1804e-14	1.4124e-14	1	1	0
SLC5A2	6524	broad.mit.edu	37	16	31497162	31497162	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:31497162G>A	ENST00000330498.3	+	4	435	c.416G>A	c.(415-417)cGc>cAc	p.R139H		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	139					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CGCCGCATCCGCCTCTACCTG	0.607000													30	32					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152647167	152647167	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:152647167T>G	ENST00000367255.5	-	80	15965	c.15364A>C	c.(15364-15366)Aag>Cag	p.K5122Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.K5051Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.K5051Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.K5122Q|SYNE1_ENST00000341594.5_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5122					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACAATTTCTTTTCTGTATCA	0.373000										HNSCC(10;0.0054)			23	18					0	0	1	0	0
FAM21A	387680	broad.mit.edu	37	10	51890679	51890679	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:51890679G>A	ENST00000351071.6	+	29	3782	c.3664G>A	c.(3664-3666)Gaa>Aaa	p.E1222K	FAM21A_ENST00000399339.2_Missense_Mutation_p.E1155K|FAM21A_ENST00000282633.5_Missense_Mutation_p.E1243K|FAM21A_ENST00000314664.7_Missense_Mutation_p.E1181K			Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	1243					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						ATTTGCTACGGAAGCAATTAA	0.299000													18	23					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51133298	51133298	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:51133298G>A	ENST00000414786.2	+	10	1353	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	SHANK3_ENST00000262795.3_Missense_Mutation_p.D376N|SHANK3_ENST00000445220.2_Missense_Mutation_p.D376N			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	376										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTCAGCCAGCGATATCAACCT	0.652000													6	10					0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157818058	157818058	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:157818058T>G	ENST00000490689.2	-	3	1744	c.211A>C	c.(211-213)Aat>Cat	p.N71H	SHOX2_ENST00000389589.4_Missense_Mutation_p.N224H|SHOX2_ENST00000425436.3_Missense_Mutation_p.N200H|SHOX2_ENST00000483851.2_Missense_Mutation_p.N200H|SHOX2_ENST00000441443.2_Missense_Mutation_p.N71H			O60902	SHOX2_HUMAN	short stature homeobox 2	200	Poly-Gly.				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGGAGTTGATTTTCTTGTTTT	0.303000													28	21					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328647	88328647	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:88328647G>A	ENST00000325089.6	+	2	1223	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R94H	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	335						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AAGGGGACTCGCCAACCCAAC	0.582000													72	87					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214204952	214204952	+	Missense_Mutation	SNP	G	G	A	rs144854983		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:214204952G>A	ENST00000413312.1	+	5	755	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	SPAG16_ENST00000331683.5_Missense_Mutation_p.R201Q|SPAG16_ENST00000374309.3_Missense_Mutation_p.R107Q|SPAG16_ENST00000272898.7_Missense_Mutation_p.R201Q|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000447990.1_Missense_Mutation_p.R201Q			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	201					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CATCATAAGCGAATAGTCCAG	0.284000													9	1					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50967707	50967707	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:50967707G>A	ENST00000357701.5	+	27	3384	c.3333G>A	c.(3331-3333)tcG>tcA	p.S1111S		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1111	Ig-like C2-type 7.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.S1111S(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTCGCCCCTCGCCCTTCGACG	0.597000													14	16					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143212549	143212549	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:143212549G>A	ENST00000316549.6	-	11	1469	c.1261C>T	c.(1261-1263)Cta>Tta	p.L421L		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	421					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTTCGGCCTAGATTCAGGAGG	0.428000													36	48					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74466549	74466549	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:74466549C>T	ENST00000394019.2	-	21	2629	c.2232G>A	c.(2230-2232)gcG>gcA	p.A744A	SLC4A5_ENST00000346834.4_Silent_p.A744A|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Silent_p.A744A|SLC4A5_ENST00000359484.4_Silent_p.A680A|SLC4A5_ENST00000423644.1_Silent_p.A744A|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Silent_p.A744A|SLC4A5_ENST00000358683.4_Silent_p.A680A|SLC4A5_ENST00000377634.4_Silent_p.A744A	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	744						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGACATGAGCGCCAGGTCTG	0.527000													40	55					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40917282	40917282	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:40917282A>C	ENST00000346991.5	+	11	5288	c.4898A>C	c.(4897-4899)aAt>aCt	p.N1633T	CASC5_ENST00000399668.2_Missense_Mutation_p.N1607T			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1633					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAAATACATAATATTAACATA	0.363000													53	51					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36149323	36149323	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:36149323C>A	ENST00000303965.4	-	18	3535	c.3046G>T	c.(3046-3048)Gat>Tat	p.D1016Y		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1016	PH 4.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CCAATCAAATCATAGTCAGCT	0.373000													24	21					1.64293e-13	1.93246e-13	1	1	0
TIGD2	166815	broad.mit.edu	37	4	90034644	90034644	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:90034644T>G	ENST00000317005.2	+	1	677	c.519T>G	c.(517-519)atT>atG	p.I173M		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	173	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		cagagcaaatttatggtgctg	0.378000													28	32					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481581	140481581	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140481581G>A	ENST00000231130.2	+	1	1348	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		450	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGCCCCCGCCTTCACCCA	0.562000													113	145					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105239458	105239458	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:105239458C>T	ENST00000262903.4	-	11	1271	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	HACE1_ENST00000369125.2_Missense_Mutation_p.R332Q	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	332					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TGGACCAATTCGAAAGACGTG	0.368000													63	70					0	0	1	0	0
CSNK1A1P1	161635	broad.mit.edu	37	15	37110049	37110049	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:37110049C>T	ENST00000430593.3	-	0	611					NR_027320.1																						AATTGGTCTTCGAGGCTAGGT	0.408000													11	24					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563843	140563843	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140563843C>T	ENST00000361016.2	+	1	2864	c.1709C>T	c.(1708-1710)gCg>gTg	p.A570V		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		570	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGGCTCCGCGCCCTGCACT	0.711000													76	102					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41513203	41513203	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:41513203T>G	ENST00000263253.7	+	2	1326	c.107T>G	c.(106-108)cTa>cGa	p.L36R		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	36	Interaction with ALX1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTTGGCTCTCTATTTGACTTG	0.353000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				21	24					0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76029317	76029317	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:76029317C>T	ENST00000319211.4	+	2	1532	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	423					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	ATACAAAAAGCTGTTAACTTA	0.383000													28	42					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073373	9073373	+	Missense_Mutation	SNP	C	C	A	rs147810737	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9073373C>A	ENST00000397910.4	-	3	14276	c.14073G>T	c.(14071-14073)aaG>aaT	p.K4691N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4693	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						CAAGTGGAATCTTTGATGTAG	0.478000													82	84					1.79992e-35	2.5056e-35	1	1	0
UTRN	7402	broad.mit.edu	37	6	144832185	144832185	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:144832185G>T	ENST00000367545.3	+	34	4870	c.4870G>T	c.(4870-4872)Gag>Tag	p.E1624*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1624	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TATTTTAGAAGAGAGGCTCTG	0.448000													46	69					1.41504e-22	1.85142e-22	1	1	0
TTC39A	22996	broad.mit.edu	37	1	51770785	51770785	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:51770785G>A	ENST00000262676.5	-	8	878	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	TTC39A_ENST00000262675.7_Silent_p.L181L|TTC39A_ENST00000447632.2_Silent_p.L244L|TTC39A_ENST00000413473.2_Silent_p.L212L|TTC39A_ENST00000371750.5_Silent_p.L209L|TTC39A_ENST00000451380.1_Silent_p.L208L|TTC39A_ENST00000371747.3_Silent_p.L243L			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	244							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						AACTCCAACAGCCTCAGGATC	0.587000													29	48					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74404384	74404384	+	Missense_Mutation	SNP	G	G	A	rs150485088	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:74404384G>A	ENST00000286544.3	-	7	1973	c.1775C>T	c.(1774-1776)gCg>gTg	p.A592V	RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000534936.1_Missense_Mutation_p.A529V	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						ATATTCTTTCGCTCTTTTACG	0.363000													53	66					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89845951	89845951	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:89845951A>C	ENST00000370456.4	+	6	725	c.632A>C	c.(631-633)aAt>aCt	p.N211T	GBP6_ENST00000535065.1_Missense_Mutation_p.N81T	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	211							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TCAGGCAATAATCCCAGAGTT	0.398000													29	32					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31725762	31725762	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:31725762T>C	ENST00000320027.5	-	6	991	c.647A>G	c.(646-648)aAc>aGc	p.N216S	HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000445273.2_Missense_Mutation_p.N218S|HSPH1_ENST00000380406.5_Missense_Mutation_p.N175S|HSPH1_ENST00000380405.4_Missense_Mutation_p.N216S	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	216					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTTTCCCTTGTTAAAAGCACA	0.393000													16	15					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47538567	47538567	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:47538567G>T	ENST00000300527.4	+	13	1260	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*	COL6A2_ENST00000357838.4_Nonsense_Mutation_p.E386*|COL6A2_ENST00000409416.1_Nonsense_Mutation_p.E386*|COL6A2_ENST00000310645.5_Nonsense_Mutation_p.E386*|COL6A2_ENST00000397763.1_Nonsense_Mutation_p.E386*	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	386	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCCCCCGGGAGAAATCGGGGC	0.657000													8	14					2.17888e-05	2.28784e-05	1	1	0
COL15A1	1306	broad.mit.edu	37	9	101810074	101810074	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:101810074A>G	ENST00000375001.3	+	27	3109	c.2686A>G	c.(2686-2688)Aaa>Gaa	p.K896E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	896	Triple-helical region 5 (COL5).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTAGGGGCCCAAAGGACCACC	0.537000													95	135					0	0	1	0	0
SLC38A7	55238	broad.mit.edu	37	16	58712690	58712690	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:58712690T>C	ENST00000570101.1	-	3	1262	c.379A>G	c.(379-381)Aca>Gca	p.T127A	SLC38A7_ENST00000564010.1_Missense_Mutation_p.T38A|SLC38A7_ENST00000564100.1_Missense_Mutation_p.T127A|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Missense_Mutation_p.T127A			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	127					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						AGCACACCTGTCAGCTTGCCA	0.547000													17	23					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98743699	98743699	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:98743699C>A	ENST00000286067.2	+	1	2659	c.2552C>A	c.(2551-2553)tCa>tAa	p.S851*		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	851										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGTAGGAGTTCATTGGAGAGT	0.383000													28	36					1.2476e-16	1.53624e-16	1	1	0
MEGF8	1954	broad.mit.edu	37	19	42873012	42873012	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:42873012C>T	ENST00000334370.4	+	36	6933	c.6298C>T	c.(6298-6300)Ccg>Tcg	p.P2100S	MEGF8_ENST00000251268.6_Missense_Mutation_p.P2167S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2167	PSI 6.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ATGTGGGCGTCCGGGGGCCTC	0.637000													41	49					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36122895	36122895	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:36122895G>A	ENST00000249044.2	+	3	780	c.780G>A	c.(778-780)aaG>aaA	p.K260K		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	260					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CTATGGTCAAGAATTTTGTGG	0.498000													82	123					0	0	1	0	0
RGL3	57139	broad.mit.edu	37	19	11508131	11508131	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:11508131C>T	ENST00000380456.3	-	17	1952	c.1889G>A	c.(1888-1890)cGa>cAa	p.R630Q	RGL3_ENST00000568628.1_5'UTR|RGL3_ENST00000393423.3_Missense_Mutation_p.R636Q	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	630	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CAAGATGCTTCGATACAGGTT	0.677000													35	36					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100366269	100366269	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:100366269G>A	ENST00000542585.1	+	0	5226				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GACAACCTGCGCCCCGACAGA	0.607000													11	12					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205030531	205030531	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:205030531G>A	ENST00000331830.4	+	8	1240	c.956G>A	c.(955-957)gGc>gAc	p.G319D		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	319	Ig-like C2-type 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCGTGCAGGGCCGCATCATC	0.632000											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	16					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119295727	119295727	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:119295727T>G	ENST00000338891.7	-	14	3224	c.2781A>C	c.(2779-2781)caA>caC	p.Q927H	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000368475.4_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	927										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TGTTTAAATCTTGTTCATGCA	0.328000													10	154					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196977743	196977743	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:196977743C>T	ENST00000367414.5	+	10	1768	c.1712C>T	c.(1711-1713)gCg>gTg	p.A571V	CFHR5_ENST00000256785.4_Missense_Mutation_p.A547V	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	547					complement activation, alternative pathway	extracellular region		p.A547E(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CCACATAAAGCGATGATATCA	0.343000													21	32					0	0	1	0	0
ACY1	95	broad.mit.edu	37	3	52021575	52021575	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:52021575T>G	ENST00000458031.2	+	14	1357	c.1126T>G	c.(1126-1128)Ttt>Gtt	p.F376V	ACY1_ENST00000494103.1_Missense_Mutation_p.F214V|ACY1_ENST00000476854.1_Missense_Mutation_p.F221V|ACY1_ENST00000404366.2_Missense_Mutation_p.F286V|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.F387V|ACY1_ENST00000476351.1_Missense_Mutation_p.F251V			Q03154	ACY1_HUMAN	aminoacylase 1	286					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	CTCTTAGGCTTTTGAGGAGCA	0.582000													21	14					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106864352	106864352	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:106864352G>A	ENST00000286398.7	+	8	1036	c.748G>A	c.(748-750)Gct>Act	p.A250T	SMC2_ENST00000374793.3_Missense_Mutation_p.A250T|SMC2_ENST00000303219.8_Missense_Mutation_p.A250T|SMC2_ENST00000374787.3_Missense_Mutation_p.A250T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	250					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGTACGCTCAGCTGAGGAATT	0.313000													37	52					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113105786	113105786	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:113105786C>T	ENST00000316851.7	+	13	1695	c.1695C>T	c.(1693-1695)ggC>ggT	p.G565G	NCAM1_ENST00000533760.1_Silent_p.G447G|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G574G	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	575	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCATCGTGGGCCTGAAGCCCG	0.547000													4	5					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6244425	6244425	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:6244425C>T	ENST00000265978.4	-	4	1179	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	FAM160A2_ENST00000449352.2_Missense_Mutation_p.R274Q|FAM160A2_ENST00000524416.1_Missense_Mutation_p.R274Q	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	274					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCAATCTTTCGAGGCAGTGA	0.478000													92	111					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167170777	167170777	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:167170777G>T	ENST00000476257.1	-	7	1209	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	SERPINI2_ENST00000471111.1_Missense_Mutation_p.S304Y|SERPINI2_ENST00000461846.1_Missense_Mutation_p.S304Y|SERPINI2_ENST00000264677.4_Missense_Mutation_p.S304Y			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	304					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TATGTTCAAAGAATACAAAAC	0.279000													11	20					1.5842e-08	1.74448e-08	1	1	0
SEMA6D	80031	broad.mit.edu	37	15	48062819	48062819	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:48062819C>T	ENST00000316364.5	+	19	2498	c.2059C>T	c.(2059-2061)Cga>Tga	p.R687*	SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389433.2_Nonsense_Mutation_p.R668*|SEMA6D_ENST00000389428.3_Nonsense_Mutation_p.R612*|SEMA6D_ENST00000354744.4_Nonsense_Mutation_p.R631*|SEMA6D_ENST00000358066.4_Nonsense_Mutation_p.R625*|SEMA6D_ENST00000536845.2_Nonsense_Mutation_p.R687*|SEMA6D_ENST00000389432.2_Nonsense_Mutation_p.R644*|SEMA6D_ENST00000558014.1_Nonsense_Mutation_p.R625*|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000537942.1_Nonsense_Mutation_p.R625*	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	687					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.R625R(1)|p.R687R(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATACTGCTATCGAGACATGTT	0.463000													55	46					0	0	1	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511582	58511582	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:58511582C>T	ENST00000588627.1	-	0	1775																											ATGGTGGAGGCGGCTGGTGTC	0.557000													6	9					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776627	77776627	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:77776627C>T	ENST00000521891.2	+	11	11125	c.10677C>T	c.(10675-10677)tgC>tgT	p.C3559C	ZFHX4_ENST00000518282.1_Silent_p.C3533C|ZFHX4_ENST00000455469.2_Silent_p.C3514C|ZFHX4_ENST00000050961.6_Silent_p.C3510C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3510						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C3543C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAGTTTGTGCAGCACCTCAG	0.493000										HNSCC(33;0.089)			39	60					0	0	1	0	0
CMTR2	55783	broad.mit.edu	37	16	71318495	71318495	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:71318495A>C	ENST00000338099.5	-	3	1665	c.1329T>G	c.(1327-1329)acT>acG	p.T443T	CMTR2_ENST00000434935.2_Silent_p.T443T					cap methyltransferase 2	443																	TTTCATTATAAGTTTTAAAAT	0.328000													33	24					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36215406	36215406	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:36215406C>A	ENST00000251195.5	-	11	2131	c.2035G>T	c.(2035-2037)Gaa>Taa	p.E679*	CLSPN_ENST00000318121.3_Nonsense_Mutation_p.E679*|CLSPN_ENST00000520551.1_Intron|CLSPN_ENST00000373220.3_Nonsense_Mutation_p.E615*			Q9HAW4	CLSPN_HUMAN	claspin	679					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGAAGGAATTCTGCAGTCTTT	0.343000													22	14					7.87624e-14	9.31353e-14	1	1	0
BMPR1A	657	broad.mit.edu	37	10	88677032	88677032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:88677032C>T	ENST00000372037.3	+	9	1354	c.817C>T	c.(817-819)Cga>Tga	p.R273*		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA		Protein kinase.				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						CAGCTGGTTTCGAGAAACAGA	0.438000			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				12	19					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164467261	164467261	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:164467261G>A	ENST00000333129.3	-	3	1395	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	361						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCATTCCCCCGATTTGTGTTT	0.438000													46	59					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104080304	104080304	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:104080304A>C	ENST00000265148.3	-	22	2553	c.2464T>G	c.(2464-2466)Ttc>Gtc	p.F822V	CENPE_ENST00000380026.3_Missense_Mutation_p.F797V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	822					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGGGTTTTGAAATTTTGGAAT	0.353000													39	35					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151164199	151164199	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:151164199C>A	ENST00000282466.3	-	4	3569	c.3570G>T	c.(3568-3570)atG>atT	p.M1190I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1190					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)			CTATAATAGTCATTGGTGGCT	0.393000													72	88					2.05175e-36	2.86065e-36	1	1	0
ENPEP	2028	broad.mit.edu	37	4	111412298	111412298	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:111412298G>T	ENST00000265162.5	+	3	1238	c.896G>T	c.(895-897)aGa>aTa	p.R299I		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	299					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCTGTAAAGAGAATATCAAAT	0.343000													34	48					3.21399e-22	4.18667e-22	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75038072	75038072	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:75038072C>T	ENST00000326665.5	-	14	3540	c.3322G>A	c.(3322-3324)Gaa>Aaa	p.E1108K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1108	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						GCTCTTACTTCTGTCTCTGTT	0.458000													43	68					0	0	1	0	0
KLRB1	3820	broad.mit.edu	37	12	9750658	9750658	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:9750658A>C	ENST00000229402.3	-	5	560	c.514T>G	c.(514-516)Ttt>Gtt	p.F172V		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	172	C-type lectin.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						GAATTTAAAAAAGAGCCGTTT	0.318000													9	10					0	0	1	0	0
SNHG1	23642	broad.mit.edu	37	11	62622151	62622151	+	RNA	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:62622151A>C	ENST00000384706.1	-	0	16					NR_002562.1																						TCAGCTTATCAATTCAAATCA	0.403000													39	51					0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008543	88008543	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:88008543A>C	ENST00000276127.4	+	3	387	c.128A>C	c.(127-129)cAg>cCg	p.Q43P	CPXCR1_ENST00000373111.1_Missense_Mutation_p.Q43P	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	43						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ATGATCTATCAGGTAGAAACC	0.453000													10	1					0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87769896	87769896	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:87769896G>A	ENST00000273905.6	-	1	520	c.373C>T	c.(373-375)Ctc>Ttc	p.L125F	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	125						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		ACTTACCTGAGATCCATATCT	0.478000													73	75					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11738035	11738035	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:11738035G>A	ENST00000381486.2	+	14	2383	c.2083G>A	c.(2083-2085)Gac>Aac	p.D695N	GREB1_ENST00000234142.5_Missense_Mutation_p.D695N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	695						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGAGAAGGTGGACTTTCTCAT	0.537000													36	267					0	0	1	0	0
CHRNA5	1138	broad.mit.edu	37	15	78885434	78885434	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:78885434G>A	ENST00000299565.5	+	6	1446	c.1246G>A	c.(1246-1248)Gtt>Att	p.V416I	CHRNA3_ENST00000348639.3_3'UTR|CHRNA5_ENST00000559554.1_Splice_Site_p.R153R	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	416					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TTCCTAACAGGTTGTTGAAGA	0.328000													41	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577934	179577934	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179577934A>T	ENST00000589042.1	-	93	27151	c.26927T>A	c.(26926-26928)cTg>cAg	p.L8976Q	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L7732Q|TTN_ENST00000591111.1_Missense_Mutation_p.L8659Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8659	Ig-like 72.						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)			ATTATCTGTCAGGGTGGTCTG	0.423000													7	11					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52649953	52649953	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:52649953T>G	ENST00000355568.4	-	20	1877	c.1738A>C	c.(1738-1740)Aaa>Caa	p.K580Q		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	580							ATP binding|metal ion binding|protein serine/threonine kinase activity			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)		ATTTCAAATTTTACCCCCTTC	0.299000													4	11					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56676846	56676846	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:56676846G>A	ENST00000389934.3	-	14	1977	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	TEX14_ENST00000240361.8_Silent_p.F626F|TEX14_ENST00000349033.5_Silent_p.F620F	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	626						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGTTGATTTCGAAACTGCAGA	0.532000													38	55					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246852	56246852	+	Missense_Mutation	SNP	G	G	A	rs142749418	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:56246852G>A	ENST00000361673.3	-	4	1369	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	386							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						CCCGACACCCGAGACCCACAA	0.532000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	49					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39269686	39269686	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:39269686C>A	ENST00000399820.3	+	30	3487	c.3333C>A	c.(3331-3333)atC>atA	p.I1111I	WDR19_ENST00000288634.7_Silent_p.I951I	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1111					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CTGCCATCATCATTGCCAGAG	0.488000													5	10					0.014758	0.0149174	1	1	0
SPAG16	79582	broad.mit.edu	37	2	215275025	215275025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:215275025C>T	ENST00000331683.5	+	16	1977	c.1882C>T	c.(1882-1884)Cga>Tga	p.R628*	SPAG16_ENST00000374309.3_Nonsense_Mutation_p.R534*|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	628					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CGGCACAGTTCGAACGTGGTC	0.512000													45	4					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1579823	1579823	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:1579823C>T	ENST00000572621.1	-	15	2629	c.2364G>A	c.(2362-2364)caG>caA	p.Q788Q	PRPF8_ENST00000304992.6_Silent_p.Q788Q			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	788						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCTGCCGCTCCTGTTCTGCCT	0.577000													151	174					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555054	44555054	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:44555054C>T	ENST00000330682.2	-	1	1395	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	387	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						ATCTGTCTCTCGAGCGAGTGC	0.567000													46	1104					0	0	1	0	0
VPS26A	9559	broad.mit.edu	37	10	70928304	70928304	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:70928304G>T	ENST00000373382.1	+	9	1440	c.787G>T	c.(787-789)Gat>Tat	p.D263Y	VPS26A_ENST00000395098.1_Intron|VPS26A_ENST00000489794.1_Intron|VPS26A_ENST00000546041.1_Missense_Mutation_p.D246Y|VPS26A_ENST00000541711.1_Missense_Mutation_p.D152Y|VPS26A_ENST00000263559.6_Missense_Mutation_p.D263Y|VPS26A_ENST00000490696.1_3'UTR			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	263					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AACAATGAGAGATGTGAACAA	0.363000													31	41					1.13719e-10	1.29117e-10	1	1	0
CNOT1	23019	broad.mit.edu	37	16	58585038	58585038	+	Missense_Mutation	SNP	T	T	G	rs142073361		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:58585038T>G	ENST00000317147.5	-	24	3672	c.3340A>C	c.(3340-3342)Aag>Cag	p.K1114Q	CNOT1_ENST00000569240.1_Missense_Mutation_p.K1109Q|CNOT1_ENST00000245138.4_Missense_Mutation_p.K4Q|CNOT1_ENST00000441024.2_Missense_Mutation_p.K1114Q	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1114					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATGCTCACCTTTTGTGTCATA	0.368000													47	56					0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	69176894	69176894	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:69176894C>A	ENST00000374552.4	+	2	656	c.414C>A	c.(412-414)ttC>ttA	p.F138L	EDA_ENST00000524573.1_Missense_Mutation_p.F138L|EDA_ENST00000374553.2_Missense_Mutation_p.F138L|EDA_ENST00000502251.1_3'UTR	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	138					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						TATTGAATTTCTTCTTCCCTG	0.403000													14	1					1.99824e-07	2.1695e-07	1	1	0
RAPGEF6	51735	broad.mit.edu	37	5	130846055	130846055	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:130846055G>A	ENST00000509018.1	-	8	962	c.757C>T	c.(757-759)Cga>Tga	p.R253*	RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.R253*|RAPGEF6_ENST00000308008.6_Nonsense_Mutation_p.R253*|RAPGEF6_ENST00000510071.1_Nonsense_Mutation_p.R253*|CTC-432M15.3_ENST00000514667.1_Nonsense_Mutation_p.R303*|RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.R253*|RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.R253*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	253					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGACATTCTCGAACAAGATCT	0.378000													19	20					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158736170	158736170	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:158736170G>T	ENST00000335094.2	-	1	322	c.303C>A	c.(301-303)atC>atA	p.I101I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GAAAGAAATAGATCTGCAGGA	0.507000													32	45					2.46105e-21	3.181e-21	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20620555	20620555	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:20620555G>A	ENST00000504154.1	+	37	4765	c.4513G>A	c.(4513-4515)Gaa>Aaa	p.E1505K	SLIT2_ENST00000503837.1_Missense_Mutation_p.E1501K|SLIT2_ENST00000273739.5_Missense_Mutation_p.E1518K|SLIT2_ENST00000503823.1_Missense_Mutation_p.E1497K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1505	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATACTCTTTCGAATGCACTGA	0.562000													23	20					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172162971	172162971	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:172162971C>A	ENST00000241256.2	-	2	1123	c.1081G>T	c.(1081-1083)Gaa>Taa	p.E361*		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	361					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ATACTAGATTCTGTCCAGGCC	0.478000													64	90					1.21705e-43	1.7198e-43	1	1	0
ZNF702P	79986	broad.mit.edu	37	19	53473696	53473696	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:53473696G>A	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							AGGAATACAAGAAATTCTTTG	0.373000													27	38					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52100304	52100304	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:52100304C>A	ENST00000354534.6	+	11	1618	c.1440C>A	c.(1438-1440)atC>atA	p.I480I	SCN8A_ENST00000550891.1_Silent_p.I480I|SCN8A_ENST00000545061.1_Silent_p.I480I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CTTCTGAAATCTCTAAACTCA	0.507000													8	11					0.000157383	0.000162881	1	1	0
PGM1	5236	broad.mit.edu	37	1	64095189	64095189	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:64095189C>A	ENST00000371083.4	+	2	762	c.394C>A	c.(394-396)Ctg>Atg	p.L132M	PGM1_ENST00000371084.3_Missense_Mutation_p.L114M|PGM1_ENST00000540265.1_5'UTR	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	114					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGGGATCATTCTGACAGCCAG	0.458000													75	80					1.91123e-38	2.67803e-38	1	1	0
VTI1A	143187	broad.mit.edu	37	10	114220336	114220336	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:114220336G>A	ENST00000393077.2	+	2	264	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	VTI1A_ENST00000432306.1_Missense_Mutation_p.E50K	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	50					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		AGAAGCGAAAGAACTGGTATG	0.348000			T	TCF7L2	colorectal								10	31					0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682571	140682571	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140682571C>T	ENST00000239451.4	-	1	1041	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	288					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CTGCTGTATTCGTAGGCCACA	0.443000													12	26					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18959733	18959733	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:18959733G>T	ENST00000379942.4	-	8	1443	c.778C>A	c.(778-780)Ctt>Att	p.L260I		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	260					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ATAATGGAAAGAAGTCCAGCA	0.403000													51	6					6.31075e-24	8.33257e-24	1	1	0
METTL14	57721	broad.mit.edu	37	4	119618422	119618422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:119618422G>A	ENST00000388822.5	+	7	756	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	METTL14_ENST00000506780.1_Missense_Mutation_p.E159K			Q9HCE5	MTL14_HUMAN	methyltransferase like 14							nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						CCCTTTAGAAGAATATTACAG	0.343000													15	20					0	0	1	0	0
CXCL2	2920	broad.mit.edu	37	4	74964335	74964335	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:74964335G>A	ENST00000508487.2	-	3	463	c.291C>T	c.(289-291)atC>atT	p.I97I	CXCL2_ENST00000296031.4_5'UTR	NM_002089.3	NP_002080.1	P19875	CXCL2_HUMAN	chemokine (C-X-C motif) ligand 2	97					chemotaxis|immune response|inflammatory response|response to molecule of bacterial origin	extracellular space|soluble fraction	chemokine activity			lung(1)	1	Breast(15;0.00612)		all cancers(17;0.00317)|Lung(101;0.196)			GCATCTTTTCGATGATTTTCT	0.468000													27	39					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67802500	67802500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:67802500C>A	ENST00000544246.1	-	2	764	c.73G>T	c.(73-75)Gaa>Taa	p.E25*	PCDH9_ENST00000456367.1_Nonsense_Mutation_p.E25*|PCDH9_ENST00000377865.2_Nonsense_Mutation_p.E25*|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.E25*|PCDH9_ENST00000377861.3_Nonsense_Mutation_p.E25*	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	25					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E25*(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAAATAAGTTCTTGAGCTATT	0.408000													36	35					1.414e-09	1.57957e-09	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141643890	141643890	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:141643890A>C	ENST00000389484.3	-	24	4752	c.3781T>G	c.(3781-3783)Ttc>Gtc	p.F1261V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1261					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGATGATGAATGCTTCAAAA	0.299000										TSP Lung(27;0.18)			17	22					0	0	1	0	0
THUMPD2	80745	broad.mit.edu	37	2	39964012	39964012	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:39964012C>T	ENST00000505747.1	-	10	1402	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	THUMPD2_ENST00000260619.6_Missense_Mutation_p.E429K	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	459							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				TTACTGGCTTCGAATGAAGTT	0.413000													76	119					0	0	1	0	0
UNCX	340260	broad.mit.edu	37	7	1275509	1275509	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:1275509G>T	ENST00000316333.8	+	3	603	c.492G>T	c.(490-492)gaG>gaT	p.E164D		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	164					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGAAGAAGGAGAACACGAAAA	0.687000													13	28					1.49906e-05	1.57744e-05	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41550860	41550860	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:41550860C>T	ENST00000400454.1	-	15	3418	c.2941G>A	c.(2941-2943)Gag>Aag	p.E981K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	981					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			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)				GTACCTGCCTCGTCCGCCGTG	0.592000													20	29					0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175337820	175337820	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:175337820G>T	ENST00000392552.2	-	3	971	c.733C>A	c.(733-735)Ctt>Att	p.L245I	GPR155_ENST00000295500.4_Missense_Mutation_p.L245I|GPR155_ENST00000392551.2_Missense_Mutation_p.L245I	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	245					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						AGTCCATCAAGAAAATTTTCG	0.378000													32	39					5.60225e-13	6.54045e-13	1	1	0
PDZD2	23037	broad.mit.edu	37	5	32108240	32108240	+	Nonstop_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:32108240G>T	ENST00000438447.1	+	25	8907	c.8519G>T	c.(8518-8520)tGa>tTa	p.*2840L	PDZD2_ENST00000513490.1_3'UTR|CTD-2152M20.2_ENST00000503441.1_RNA|PDZD2_ENST00000282493.3_Nonstop_Mutation_p.*2840L			O15018	PDZD2_HUMAN	PDZ domain containing 2	0					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AATTCTTCATGAATTTTAACA	0.388000													17	12					4.7546e-09	5.27048e-09	1	1	0
FAM126A	84668	broad.mit.edu	37	7	23004147	23004147	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:23004147G>A	ENST00000432176.2	-	8	862	c.630C>T	c.(628-630)atC>atT	p.I210I	FAM126A_ENST00000409923.1_Silent_p.I210I	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	210						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CACAAACACAGATTCTAGAAA	0.303000													15	29					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42235918	42235918	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:42235918G>A	ENST00000541110.1	-	5	1979	c.1411C>T	c.(1411-1413)Ctg>Ttg	p.L471L	TRERF1_ENST00000372917.4_Silent_p.L471L|TRERF1_ENST00000372922.4_Silent_p.L471L|TRERF1_ENST00000340840.2_Silent_p.L471L|TRERF1_ENST00000354325.2_Silent_p.L471L			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	471	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGGAGACAGCTGCTGATGC	0.592000													37	43					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605794	58605794	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:58605794C>A	ENST00000267485.7	-	2	477	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	95						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGCTGGGTTTCTTTGTTAATC	0.478000													51	41					5.85753e-14	6.94182e-14	1	1	0
NAALADL1	10004	broad.mit.edu	37	11	64815682	64815682	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:64815682G>T	ENST00000358658.3	-	10	1317	c.1290C>A	c.(1288-1290)ttC>ttA	p.F430L	NAALADL1_ENST00000356632.3_Missense_Mutation_p.F395L|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000339885.2_Missense_Mutation_p.F430L|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000355369.2_Missense_Mutation_p.F430L|NAALADL1_ENST00000340252.4_Missense_Mutation_p.F481L|NAALADL1_ENST00000355721.3_Missense_Mutation_p.F389L	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	430	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCTTGTTGAAGAACTCCTGCG	0.617000													87	93					2.61628e-32	3.60812e-32	1	1	0
TEX15	56154	broad.mit.edu	37	8	30704285	30704285	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:30704285C>A	ENST00000256246.2	-	1	2323	c.2249G>T	c.(2248-2250)aGt>aTt	p.S750I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	750										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAAATAGTTACTTTCCTTAGA	0.358000													41	46					6.04917e-29	8.24859e-29	1	1	0
DGKG	1608	broad.mit.edu	37	3	185906063	185906063	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:185906063T>C	ENST00000265022.3	-	22	2562	c.2023A>G	c.(2023-2025)Aag>Gag	p.K675E	DGKG_ENST00000544847.1_Missense_Mutation_p.K616E|DGKG_ENST00000344484.4_Missense_Mutation_p.K650E|DGKG_ENST00000382164.4_Missense_Mutation_p.K636E	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	675					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			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)	GCCCGGTTCTTCTTGTTTTCT	0.502000													38	42					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449603	85449603	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:85449603G>A	ENST00000393217.2	+	8	1093	c.1032G>A	c.(1030-1032)agG>agA	p.R344R		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	344	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		aggaacaaaggataaaagaag	0.338000													3	9					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800902	27800902	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:27800902C>T	ENST00000408964.2	+	1	1514	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	488										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTCACAGAATCTGCAAGGACA	0.438000													50	44					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22782647	22782647	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:22782647C>T	ENST00000400546.1	+	10	1498	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	NCAM2_ENST00000284894.7_Missense_Mutation_p.P275S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	417	Ig-like C2-type 5.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GGAAGGAAATCCTATCAATAT	0.303000													15	33					0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54320181	54320181	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:54320181T>G	ENST00000231009.2	+	1	101	c.31T>G	c.(31-33)Ttc>Gtc	p.F11V	CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000596909.2_RNA|CTD-2313F11.1_ENST00000608929.1_RNA|CTD-2313F11.1_ENST00000608466.1_RNA|CTD-2313F11.1_ENST00000607910.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	11					proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TTCTCTGTTTTTCCTAATAGT	0.299000													12	16					0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117875445	117875445	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:117875445G>T	ENST00000297338.2	-	3	485	c.198C>A	c.(196-198)atC>atA	p.I66I	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	66					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TCCTGTGATAGATTCGAACTA	0.373000													46	43					2.77807e-22	3.62324e-22	1	1	0
HEATR5A	25938	broad.mit.edu	37	14	31790851	31790851	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:31790851G>A	ENST00000543095.2	-	25	4007	c.3823C>T	c.(3823-3825)Cgc>Tgc	p.R1275C	HEATR5A_ENST00000439727.1_Missense_Mutation_p.R982C|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R1269C|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1269C	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1269							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AAAGCCATGCGAATTAAGTCA	0.378000													3	7					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76101275	76101275	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:76101275G>T	ENST00000238667.4	+	5	1399	c.1043G>T	c.(1042-1044)aGa>aTa	p.R348I	FLVCR2_ENST00000553587.1_Missense_Mutation_p.R96I|FLVCR2_ENST00000555027.1_Missense_Mutation_p.R63I|FLVCR2_ENST00000539311.1_Missense_Mutation_p.R143I|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000556856.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	348					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		AATGCTGGAAGAATTGGCCTG	0.522000													22	23					3.08376e-08	3.38111e-08	1	1	0
SH2D5	400745	broad.mit.edu	37	1	21050924	21050924	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:21050924G>A	ENST00000375031.1	-	5	967	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	SH2D5_ENST00000444387.2_Missense_Mutation_p.R199W|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	115										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCAGCCGCCGAAAGGAGACC	0.667000													23	26					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813527	248813527	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:248813527C>A	ENST00000344889.3	-	1	658	c.659G>T	c.(658-660)aGa>aTa	p.R220I		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATGAGAATTCTTGTGTAAGA	0.517000													7	4					1.58986e-06	1.70119e-06	1	1	0
SEZ6L	23544	broad.mit.edu	37	22	26776231	26776231	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:26776231G>T	ENST00000529632.2	+	16	3208		c.e16-1		SEZ6L_ENST00000411842.2_Splice_Site|SEZ6L_ENST00000343706.4_Splice_Site|SEZ6L_ENST00000404234.3_Splice_Site|SEZ6L_ENST00000248933.6_Splice_Site|SEZ6L_ENST00000360929.3_Splice_Site|SEZ6L_ENST00000402979.1_Splice_Site|SEZ6L_ENST00000403121.1_Splice_Site	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like							endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTCTCTTGCAGGAAACCAGAG	0.468000													52	83					4.1673e-28	5.65934e-28	1	1	0
GSTO1	9446	broad.mit.edu	37	10	106022782	106022782	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:106022782G>T	ENST00000539281.1	+	4	684	c.328G>T	c.(328-330)Gac>Tac	p.D110Y	GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Intron|GSTO1_ENST00000369713.5_Missense_Mutation_p.D138Y	NM_001191003.1	NP_001177932.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	138	GST C-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	AAATAAAGAAGACTATGCTGG	0.363000													15	13					1.99824e-07	2.1695e-07	1	1	0
AKAP12	9590	broad.mit.edu	37	6	151673975	151673975	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:151673975G>A	ENST00000402676.2	+	4	4689	c.4449G>A	c.(4447-4449)tcG>tcA	p.S1483S	AKAP12_ENST00000359755.5_Silent_p.S1378S|AKAP12_ENST00000253332.1_Silent_p.S1483S|AKAP12_ENST00000354675.6_Silent_p.S1385S	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1483					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGCAAAATCGACACCAGTGA	0.468000													49	50					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954498	35954498	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:35954498C>T	ENST00000274278.3	-	7	1735	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	460						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGATGTGGTCGATCCAGCCC	0.602000													33	20					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32663160	32663160	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:32663160G>T	ENST00000357033.4	-	10	1276	c.1070C>A	c.(1069-1071)tCt>tAt	p.S357Y	DMD_ENST00000378677.2_Missense_Mutation_p.S353Y|DMD_ENST00000288447.4_Missense_Mutation_p.S349Y	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	357					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTCCTCAGCAGAAAGAAGCCA	0.398000													62	7					8.72158e-25	1.15788e-24	1	1	0
LGALS17A	400696	broad.mit.edu	37	19	40172147	40172147	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:40172147C>T	ENST00000412609.1	+	0	136																											TCATCCCTTTCGTGTGAGTAC	0.517000													19	19					0	0	1	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77491791	77491791	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:77491791G>T	ENST00000238647.3	-	1	3243	c.2345C>A	c.(2344-2346)aCt>aAt	p.T782N		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	782						nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						AGCTAAGATAGTCGCGATTTC	0.582000													48	70					6.31075e-24	8.33257e-24	1	1	0
ZNF556	80032	broad.mit.edu	37	19	2877370	2877370	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:2877370G>T	ENST00000586426.1	+	4	498	c.411G>T	c.(409-411)aaG>aaT	p.K137N	ZNF556_ENST00000307635.2_Missense_Mutation_p.K138N			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	138			R -> C (in dbSNP:rs10421121).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTGCGCAAGAATTGTTGTA	0.438000													53	61					2.01872e-29	2.75764e-29	1	1	0
WDR93	56964	broad.mit.edu	37	15	90245177	90245177	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:90245177T>G	ENST00000268130.7	+	2	301	c.200T>G	c.(199-201)cTg>cGg	p.L67R	WDR93_ENST00000560294.1_Missense_Mutation_p.L67R|WDR93_ENST00000558000.1_Missense_Mutation_p.L67R	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	67					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GTGAACCTTCTGTTTGACCAG	0.498000													16	37					0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118006501	118006501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:118006501C>A	ENST00000310754.4	-	1	235	c.49G>T	c.(49-51)Gaa>Taa	p.E17*		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	17					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGGATGAATTCCTGGCTGAGA	0.602000													44	41					1.06522e-23	1.40371e-23	1	1	0
SH3PXD2B	285590	broad.mit.edu	37	5	171789755	171789755	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:171789755G>A	ENST00000311601.5	-	7	716	c.546C>T	c.(544-546)atC>atT	p.I182I	SH3PXD2B_ENST00000519643.1_Silent_p.I182I	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	182	SH3 1.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CATTCTTCTCGATGATGTCCA	0.552000													32	24					0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671146	112671146	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:112671146G>A	ENST00000441065.2	+	3	548	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	79	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CACAATAGCCGACTTGAGCAA	0.547000													28	20					0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51561864	51561864	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:51561864G>T	ENST00000595793.1	-	4	618	c.576C>A	c.(574-576)gtC>gtA	p.V192V	KLK13_ENST00000595547.1_Silent_p.V119V|KLK13_ENST00000335422.3_Silent_p.V40V	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	192	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTCCTGGGTAGACTTGACGAC	0.517000													101	112					9.17388e-59	1.31482e-58	1	1	0
KLHL2	11275	broad.mit.edu	37	4	166150063	166150063	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:166150063C>T	ENST00000421009.2	+	2	164	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	KLHL2_ENST00000514860.1_Missense_Mutation_p.T90I|KLHL2_ENST00000538127.1_Intron|KLHL2_ENST00000226725.6_Missense_Mutation_p.T86I			O95198	KLHL2_HUMAN	kelch-like family member 2	127					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GCCATGTTTACAGGTATGAAA	0.343000													7	10					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088838	94088838	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:94088838G>A	ENST00000553484.1	+	31	5479	c.5325G>A	c.(5323-5325)tcG>tcA	p.S1775S	UNC79_ENST00000393151.2_Silent_p.S1753S|UNC79_ENST00000555664.1_Silent_p.S1753S|UNC79_ENST00000256339.4_Silent_p.S1576S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1753						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						TTCAGAAGTCGTTTGCTCTCC	0.587000													68	62					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634497	32634497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:32634497G>A	ENST00000242310.4	-	1	1170	c.1081C>T	c.(1081-1083)Cgt>Tgt	p.R361C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	361					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGCCCATAACGCCACTCAGCC	0.468000													65	90					0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53881171	53881171	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:53881171G>A	ENST00000267079.2	-	2	230	c.5C>T	c.(4-6)gCt>gTt	p.A2V	MAP3K12_ENST00000547488.1_Missense_Mutation_p.A2V|MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547035.1_Missense_Mutation_p.A2V	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	2					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ATGGAGGCAAGCCATCGCCTC	0.592000													30	45					0	0	1	0	0
LRRC57	255252	broad.mit.edu	37	15	42839482	42839482	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:42839482C>T	ENST00000323443.2	-	3	836	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	LRRC57_ENST00000563454.1_Missense_Mutation_p.E157K|LRRC57_ENST00000397130.3_Missense_Mutation_p.E157K			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	157										breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		AGGTTGAGTTCGATGACTTGC	0.453000													25	35					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227707	28227707	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:28227707G>T	ENST00000343684.3	+	1	610	c.558G>T	c.(556-558)aaG>aaT	p.K186N		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	186	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CAAGAAACAAGAAAAAAAGAA	0.373000													28	48					9.80776e-20	1.25071e-19	1	1	0
SMARCA1	6594	broad.mit.edu	37	X	128649669	128649669	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:128649669C>A	ENST00000371122.4	-	5	754	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.E209*|SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.E209*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	209	Helicase ATP-binding.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTTACCATTTCATCAGCCAAA	0.398000													45	6					5.13769e-22	6.67787e-22	1	1	0
BRD2	6046	broad.mit.edu	37	6	32945977	32945977	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:32945977A>C	ENST00000395289.2	+	10	3254	c.1653A>C	c.(1651-1653)aaA>aaC	p.K551N	BRD2_ENST00000374825.4_Missense_Mutation_p.K551N|BRD2_ENST00000395287.1_Missense_Mutation_p.K551N|BRD2_ENST00000374831.4_Missense_Mutation_p.K551N|BRD2_ENST00000443797.2_Missense_Mutation_p.K431N|BRD2_ENST00000449085.2_Missense_Mutation_p.K504N			P25440	BRD2_HUMAN	bromodomain containing 2	551	Arg/Lys-rich (highly basic).|Poly-Lys.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AAAGAGAGAAAAAAGAGAAAA	0.512000													43	42					0	0	1	0	0
PURA	5813	broad.mit.edu	37	5	139494494	139494494	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:139494494T>G	ENST00000331327.3	+	1	787	c.728T>G	c.(727-729)tTt>tGt	p.F243C		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	243					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACGGCGTGTTTATGCGAGTG	0.592000													28	38					0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201289438	201289438	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:201289438T>G	ENST00000263946.3	+	8	1590	c.1339T>G	c.(1339-1341)Tac>Gac	p.Y447D	PKP1_ENST00000352845.3_Missense_Mutation_p.Y447D|PKP1_ENST00000367324.3_Missense_Mutation_p.Y426D	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	447					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CATGCGTAACTACTCAGGGCT	0.602000													18	30					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31349664	31349664	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:31349664G>A	ENST00000460581.2	+	5	653	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	COCH_ENST00000475087.1_Missense_Mutation_p.R148Q|COCH_ENST00000396618.3_Missense_Mutation_p.R148Q|COCH_ENST00000216361.4_Missense_Mutation_p.R148Q|RP11-829H16.3_ENST00000555108.1_RNA			O43405	COCH_HUMAN	cochlin	148	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCAGGTAAACGACTAAAGAAA	0.413000													19	20					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89424104	89424104	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:89424104G>T	ENST00000532352.1	+	0	1567							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.E252K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TGAAACATATGAGTTGGTGGA	0.383000													30	30					5.43694e-19	6.87742e-19	1	1	0
P2RX2	22953	broad.mit.edu	37	12	133196898	133196898	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:133196898G>T	ENST00000449132.2	+	5	493	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	P2RX2_ENST00000343948.4_Missense_Mutation_p.K200N|P2RX2_ENST00000348800.5_Missense_Mutation_p.K200N|P2RX2_ENST00000351222.4_Missense_Mutation_p.K108N|P2RX2_ENST00000350048.5_Missense_Mutation_p.K176N|P2RX2_ENST00000389110.3_Missense_Mutation_p.K200N|P2RX2_ENST00000352418.4_Missense_Mutation_p.K128N	NM_001282164.1	NP_001269093.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	193					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TCCTCATCAAGAACAGCATCC	0.567000													37	41					5.43694e-19	6.87742e-19	1	1	0
ACPP	55	broad.mit.edu	37	3	132063831	132063831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:132063831G>T	ENST00000336375.5	+	7	799	c.709G>T	c.(709-711)Gaa>Taa	p.E237*	ACPP_ENST00000351273.7_Nonsense_Mutation_p.E237*|ACPP_ENST00000475741.1_Nonsense_Mutation_p.E204*	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	237						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TAAGTTGAGAGAATTGTCAGA	0.403000													24	49					3.7963e-18	4.75028e-18	1	1	0
MCF2	4168	broad.mit.edu	37	X	138729008	138729008	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:138729008A>C	ENST00000520602.1	-	3	365	c.80T>G	c.(79-81)tTt>tGt	p.F27C	MCF2_ENST00000370578.4_Missense_Mutation_p.F112C|MCF2_ENST00000414978.1_Missense_Mutation_p.F27C|MCF2_ENST00000519895.1_Missense_Mutation_p.F27C			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	0	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TATACATCTAAAATTACAGTT	0.308000													8	0					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93108733	93108733	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:93108733C>A	ENST00000359558.2	-	5	491	c.192G>T	c.(190-192)aaG>aaT	p.K64N	CALCR_ENST00000426151.1_Missense_Mutation_p.K46N|CALCR_ENST00000394441.1_Missense_Mutation_p.K46N|CALCR_ENST00000360249.4_Missense_Mutation_p.K46N|CALCR_ENST00000421592.1_Missense_Mutation_p.K46N	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	46					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CCATCATCTTCTTTCGTCCTA	0.408000													72	78					7.33394e-39	1.02845e-38	1	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658498	72658498	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:72658498G>A	ENST00000425256.1	-	0	1413																											tgatctcatcgattgcgatag	0.463000													41	49					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130965897	130965897	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:130965897A>C	ENST00000341179.7	+	1	240	c.148A>C	c.(148-150)Aat>Cat	p.N50H	DNM1_ENST00000475805.1_Missense_Mutation_p.N50H|CIZ1_ENST00000393608.1_Intron|CIZ1_ENST00000372948.3_Intron|DNM1_ENST00000372923.3_Missense_Mutation_p.N50H|DNM1_ENST00000486160.1_Missense_Mutation_p.N50H|DNM1_ENST00000393594.3_Missense_Mutation_p.N50H	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	50					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GGTGCTCGAGAATTTCGTAGG	0.731000													6	9					0	0	1	0	0
RPL5	6125	broad.mit.edu	37	1	93298950	93298950	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:93298950T>G	ENST00000370321.3	+	2	98	c.8T>G	c.(7-9)tTt>tGt	p.F3C		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	3					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TTTAAGGGGTTTGTTAAAGTT	0.299000													12	15					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15847333	15847333	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:15847333C>A	ENST00000452625.2	-	16	1890	c.1803G>T	c.(1801-1803)aaG>aaT	p.K601N	MYH11_ENST00000396324.3_Missense_Mutation_p.K601N|MYH11_ENST00000576790.2_Missense_Mutation_p.K594N|MYH11_ENST00000300036.5_Missense_Mutation_p.K594N	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	594	Myosin head-like.				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	actin binding|ATP 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						GGTCCATATTCTTGGTCAGCC	0.552000			T	CBFB	AML								33	38					1.90571e-15	2.30404e-15	1	1	0
FOXJ2	55810	broad.mit.edu	37	12	8197460	8197460	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:8197460C>A	ENST00000162391.3	+	6	1868	c.723C>A	c.(721-723)ttC>ttA	p.F241L	FOXJ2_ENST00000428177.2_Missense_Mutation_p.F241L	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	241					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		ACTTTAAATTCTCCTACTCAG	0.527000													90	119					2.98122e-55	4.26243e-55	1	1	0
KIAA1614	57710	broad.mit.edu	37	1	180904810	180904810	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:180904810C>T	ENST00000367588.4	+	5	1820	c.1765C>T	c.(1765-1767)Ctc>Ttc	p.L589F	KIAA1614_ENST00000367587.1_Missense_Mutation_p.L210F	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	589										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGAGCCCCGGCTCCACATGGA	0.647000													13	18					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113562941	113562941	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:113562941C>T	ENST00000416899.2	+	13	2385	c.2259C>T	c.(2257-2259)aaC>aaT	p.N753N	MUSK_ENST00000374448.4_Silent_p.N761N|MUSK_ENST00000189978.5_Silent_p.N761N			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	761	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.N761N(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTAATGAAAACGACGCTATCC	0.507000													95	100					0	0	1	0	0
PTX3	5806	broad.mit.edu	37	3	157160549	157160549	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:157160549G>A	ENST00000295927.3	+	3	1072	c.927G>A	c.(925-927)caG>caA	p.Q309Q	VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	309	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GAATCCTGCAGATTGGCCAAG	0.507000													30	42					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232574902	232574902	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:232574902G>A	ENST00000366630.1	-	14	4341	c.3983C>T	c.(3982-3984)gCt>gTt	p.A1328V	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A402V|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1328V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1328	Ser-rich.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCCTTCCGCAGCACTGCCGGC	0.607000													27	39					0	0	1	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613909	27613909	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:27613909T>G	ENST00000225388.4	-	2	1161	c.1103A>C	c.(1102-1104)aAa>aCa	p.K368T	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	368						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTGTATAGTTTTGTTGAGGTT	0.403000													85	89					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39763353	39763353	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:39763353G>A	ENST00000564288.1	+	21	3194	c.2417G>A	c.(2416-2418)cGa>cAa	p.R806Q	MACF1_ENST00000567887.1_Missense_Mutation_p.R843Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R811Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R811Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R811Q|MACF1_ENST00000372915.3_Missense_Mutation_p.R811Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R811Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	811					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCATTAAACGAAAATATTCC	0.473000													26	32					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69926378	69926378	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:69926378C>A	ENST00000358913.5	+	10	2416	c.1928C>A	c.(1927-1929)tCt>tAt	p.S643Y	MYPN_ENST00000540630.1_Missense_Mutation_p.S643Y|MYPN_ENST00000354393.2_Missense_Mutation_p.S368Y	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	643						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCAGAGCCTTCTTCCCCCGTG	0.512000													22	43					2.12542e-12	2.46249e-12	1	1	0
TTLL2	83887	broad.mit.edu	37	6	167754003	167754003	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:167754003G>A	ENST00000239587.5	+	3	703	c.615G>A	c.(613-615)aaG>aaA	p.K205K		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	205	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGGCACCAAGCATAGCTATT	0.458000													34	34					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6479703	6479703	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:6479703G>A	ENST00000381480.2	-	4	265	c.153C>T	c.(151-153)ttC>ttT	p.F51F	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Silent_p.F7F	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	51	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AAGGGAAGCAGAATTTAGGCA	0.567000													55	67					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68925166	68925166	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:68925166G>A	ENST00000356291.2	-	9	1095	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	346	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CTGGCTTGCCGAAGTGTATTT	0.363000													14	12					0	0	1	0	0
TRH	7200	broad.mit.edu	37	3	129695712	129695712	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:129695712G>A	ENST00000302649.3	+	3	909	c.382G>A	c.(382-384)Gat>Aat	p.D128N	TRH_ENST00000507066.1_Missense_Mutation_p.D124N	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	128					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						ATGGTCAGTCGATGTAACCCA	0.622000													6	101					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47675062	47675062	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:47675062G>T	ENST00000283303.2	+	2	339	c.81G>T	c.(79-81)aaG>aaT	p.K27N	GPR115_ENST00000327753.3_Missense_Mutation_p.K27N|GPR115_ENST00000371220.1_Missense_Mutation_p.K84N	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	27					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ATAGATCCAAGATTCACCTAA	0.398000													34	42					1.45844e-13	1.71658e-13	1	1	0
MIR518A1	574488	broad.mit.edu	37	19	54234310	54234310	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:54234310G>T	ENST00000385068.1	+	0	51					NR_030210.1																						TGAAAGAAGAGAAAGCGCTTC	0.453000													72	84					7.07328e-35	9.82595e-35	1	1	0
RANBP3L	202151	broad.mit.edu	37	5	36255644	36255644	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:36255644C>A	ENST00000296604.3	-	11	1437	c.952G>T	c.(952-954)Gaa>Taa	p.E318*	RANBP3L_ENST00000502994.1_Nonsense_Mutation_p.E343*	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	318	RanBD1.				intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CTGCCCCTTTCAATCCAGGAT	0.338000													39	62					2.95478e-19	3.74562e-19	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8485254	8485254	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:8485254C>A	ENST00000381196.4	-	26	3669	c.3126G>T	c.(3124-3126)gaG>gaT	p.E1042D	PTPRD_ENST00000358503.5_Missense_Mutation_p.E1020D|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1042D|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1029D|PTPRD_ENST00000355233.5_Missense_Mutation_p.E631D|PTPRD_ENST00000397606.3_Missense_Mutation_p.E621D|PTPRD_ENST00000397611.3_Missense_Mutation_p.E628D|PTPRD_ENST00000537002.1_Missense_Mutation_p.E628D|PTPRD_ENST00000397617.3_Missense_Mutation_p.E621D|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1042D|PTPRD_ENST00000486161.1_Missense_Mutation_p.E631D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1042	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTTATAATTCTCTGGAATCT	0.353000										TSP Lung(15;0.13)			14	18					3.45872e-05	3.62598e-05	1	1	0
SOS2	6655	broad.mit.edu	37	14	50585159	50585159	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:50585159T>G	ENST00000216373.5	-	23	4176	c.3902A>C	c.(3901-3903)cAt>cCt	p.H1301P	SOS2_ENST00000543680.1_Missense_Mutation_p.H1268P	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1301					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTTTGGCAGATGAGGGCTTGA	0.507000													29	35					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10434480	10434480	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:10434480G>A	ENST00000377086.1	+	46	5255	c.5053G>A	c.(5053-5055)Gaa>Aaa	p.E1685K	KIF1B_ENST00000263934.6_Missense_Mutation_p.E1639K|KIF1B_ENST00000377081.1_Missense_Mutation_p.E1685K			O60333	KIF1B_HUMAN	kinesin family member 1B	1685					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGGAAAAAACGAATTTCTCAA	0.428000													79	99					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716939	222716939	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:222716939C>T	ENST00000343410.6	-	2	972	c.914G>A	c.(913-915)cGa>cAa	p.R305Q		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	305					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			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)		CTCACTAATTCGGATCTTTTC	0.453000													227	245					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119957961	119957961	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:119957961C>A	ENST00000327554.2	+	9	1469	c.1004C>A	c.(1003-1005)tCt>tAt	p.S335Y	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	335										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AAGAGTAATTCTGCTTATAAG	0.468000													98	98					8.78727e-49	1.24967e-48	1	1	0
LRP2	4036	broad.mit.edu	37	2	170013914	170013914	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:170013914C>T	ENST00000263816.3	-	64	12271	c.11986G>A	c.(11986-11988)Gaa>Aaa	p.E3996K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3996	EGF-like 14.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACATTGGTTTCGAACCCAGCT	0.388000													17	30					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34064260	34064260	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:34064260G>A	ENST00000389232.4	+	63	9026	c.8956G>A	c.(8956-8958)Gtt>Att	p.V2986I	RYR3_ENST00000415757.3_Missense_Mutation_p.V2986I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2986					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATTAAAGGCGTTTCTCAGAA	0.448000													11	16					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135941974	135941974	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:135941974C>T	ENST00000372080.4	+	5	621	c.605C>T	c.(604-606)gCg>gTg	p.A202V	CEL_ENST00000351304.7_Missense_Mutation_p.A199V	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	199					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		AGGAATATCGCGGCCTTCGGG	0.642000													76	237					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77806074	77806074	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:77806074G>A	ENST00000344720.5	+	6	1660	c.634G>A	c.(634-636)Gat>Aat	p.D212N	AK5_ENST00000354567.2_Missense_Mutation_p.D238N	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	238					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CTGTACCCCCGATTTGGTGGT	0.458000													46	60					0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41461671	41461671	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:41461671G>A	ENST00000372621.4	+	8	1311	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	CTPS1_ENST00000372616.1_Missense_Mutation_p.R268Q|CTPS1_ENST00000541520.1_Missense_Mutation_p.R37Q|CTPS1_ENST00000543104.1_Missense_Mutation_p.R275Q	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	268					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	TATTTTCTTCGAAGACTTGAC	0.453000													25	18					0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760992	186760992	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:186760992T>C	ENST00000169298.3	+	4	1175	c.501T>C	c.(499-501)ggT>ggC	p.G167G	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Silent_p.G167G	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	167					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		AATGGGAGGGTTATCTGCCCA	0.557000													60	67					0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25718533	25718533	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:25718533C>T	ENST00000349320.3	-	6	926	c.538G>A	c.(538-540)Gag>Aag	p.E180K	RHCE_ENST00000413854.1_Missense_Mutation_p.E196K|RHCE_ENST00000349438.4_Missense_Mutation_p.E196K|RHCE_ENST00000243186.6_Missense_Mutation_p.E196K|RHCE_ENST00000294413.7_Missense_Mutation_p.E196K|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000425135.1_Missense_Mutation_p.E196K|RHCE_ENST00000374352.2_Missense_Mutation_p.E180K			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	196						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		TCATTATCCTCCGTTCCCTTG	0.537000													40	68					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114390325	114390325	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:114390325T>G	ENST00000545145.2	-	8	1070	c.992A>C	c.(991-993)aAt>aCt	p.N331T	RBM19_ENST00000261741.5_Missense_Mutation_p.N331T|RBM19_ENST00000392561.3_Missense_Mutation_p.N331T	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	331	RRM 2.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					ACCTGTTTTATTCCCATGAGC	0.443000													18	25					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38919111	38919111	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:38919111G>A	ENST00000359357.3	+	80	11869	c.11615G>A	c.(11614-11616)cGt>cAt	p.R3872H	DNAH8_ENST00000441566.1_Missense_Mutation_p.R3836H|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.R4089H					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCCCAGACCGTACTGTTTTT	0.338000													43	67					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586884	143586884	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:143586884G>T	ENST00000507359.3	+	2	1698	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	KCTD16_ENST00000512467.1_Nonsense_Mutation_p.E203*	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16							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)			CTTGGCAAAAGAAGTCTTTGG	0.478000													32	38					5.77227e-19	7.29122e-19	1	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20868136	20868136	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:20868136G>A	ENST00000381552.1	+	6	961	c.593G>A	c.(592-594)gGa>gAa	p.G198E	SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G198E|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G198E|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G80E			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	198					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CTTCTTCGTGGAATAGGAGAA	0.408000													65	64					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97677245	97677245	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:97677245C>A	ENST00000275053.4	-	14	1829	c.1564G>T	c.(1564-1566)Gaa>Taa	p.E522*	MMS22L_ENST00000369251.2_Nonsense_Mutation_p.E482*	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	522					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCAGTTAGTTCTTCCATTCTT	0.303000													8	11					5.18039e-06	5.50011e-06	1	1	0
RAB22A	57403	broad.mit.edu	37	20	56928332	56928332	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:56928332C>T	ENST00000244040.3	+	4	483	c.202C>T	c.(202-204)Cgt>Tgt	p.R68C		NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	68					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			TCTGCAGTTTCGTGCCTTAGC	0.343000													38	37					0	0	1	0	0
PRDM13	59336	broad.mit.edu	37	6	100061775	100061775	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:100061775C>A	ENST00000369215.4	+	4	1569	c.1264C>A	c.(1264-1266)Cag>Aag	p.Q422K		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GCGTTATGCGCAGCTGCCCCC	0.741000													11	13					1.58986e-06	1.70119e-06	1	1	0
BPTF	2186	broad.mit.edu	37	17	65908454	65908454	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:65908454C>T	ENST00000321892.4	+	13	4893	c.4832C>T	c.(4831-4833)tCg>tTg	p.S1611L	BPTF_ENST00000424123.3_Missense_Mutation_p.S1472L|BPTF_ENST00000306378.6_Missense_Mutation_p.S1485L|BPTF_ENST00000335221.5_Missense_Mutation_p.S1611L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1611					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAAACAAAATCGCATTTGCTG	0.408000													26	38					0	0	1	0	0
DZANK1	55184	broad.mit.edu	37	20	18365118	18365118	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:18365118G>T	ENST00000357236.4	-	22	2501	c.1842C>A	c.(1840-1842)ctC>ctA	p.L614L	DZANK1_ENST00000329494.5_Silent_p.L706L|DZANK1_ENST00000358866.6_Silent_p.L728L|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Silent_p.L728L			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	555						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TGGCAGCAAAGAGTGAGGTGA	0.532000													7	7					8.12818e-05	8.45312e-05	1	1	0
ADCY10	55811	broad.mit.edu	37	1	167849796	167849796	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:167849796C>T	ENST00000367848.1	-	10	1293	c.796G>A	c.(796-798)Gag>Aag	p.E266K	ADCY10_ENST00000367851.4_Missense_Mutation_p.E358K|ADCY10_ENST00000545172.1_Missense_Mutation_p.E205K			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	358					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGAGTGAGCTCGTCAGGTACC	0.512000													34	41					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129511377	129511377	+	Missense_Mutation	SNP	C	C	T	rs143626559		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:129511377C>T	ENST00000421865.2	+	11	1544	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	499	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R499C(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGACTGTAGTCGTTGCAAATC	0.428000													23	22					0	0	1	0	0
NAT16	375607	broad.mit.edu	37	7	100817924	100817924	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:100817924G>A	ENST00000300303.2	-	2	403	c.165C>T	c.(163-165)ttC>ttT	p.F55F	NAT16_ENST00000455377.1_Silent_p.F55F|NAT16_ENST00000443096.1_Silent_p.F55F	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	55	N-acetyltransferase.						N-acetyltransferase activity										TGGCCACCACGAAGTCCAATG	0.662000													50	58					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3789685	3789685	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:3789685G>A	ENST00000262367.5	-	25	4983	c.4174C>T	c.(4174-4176)Cga>Tga	p.R1392*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.R1354*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1392	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTTTGGTTCGATATGGGAAA	0.468000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						29	35					0	0	1	0	0
CCR9	10803	broad.mit.edu	37	3	45943151	45943151	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:45943151G>A	ENST00000357632.2	+	3	1051	c.871G>A	c.(871-873)Gtt>Att	p.V291I	LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000395963.2_Missense_Mutation_p.V279I|CCR9_ENST00000355983.2_Missense_Mutation_p.V279I|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000539217.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	291					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		CAACTGTGCCGTTTCCACCAA	0.488000													46	49					0	0	1	0	0
TMEM260	54916	broad.mit.edu	37	14	57099767	57099767	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:57099767G>T	ENST00000261556.6	+	13	1724	c.1602G>T	c.(1600-1602)aaG>aaT	p.K534N	TMEM260_ENST00000536419.1_Missense_Mutation_p.K68N|TMEM260_ENST00000538838.1_3'UTR	NM_017799.3	NP_060269.3			transmembrane protein 260																		CCTGGAAAAAGAACTATTCAC	0.338000													35	24					9.93527e-08	1.08376e-07	1	1	0
WDR35	57539	broad.mit.edu	37	2	20132192	20132192	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:20132192T>G	ENST00000345530.3	-	24	2823	c.2708A>C	c.(2707-2709)gAa>gCa	p.E903A	WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Missense_Mutation_p.E892A	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	903										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTAGCCAATTCAACAGCTTT	0.328000													21	30					0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77844276	77844276	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:77844276C>T	ENST00000216471.4	+	1	801	c.515C>T	c.(514-516)tCg>tTg	p.S172L	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	172										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTGAGGTTTCGGGGGCCACA	0.483000													84	82					0	0	1	0	0
CENPP	401541	broad.mit.edu	37	9	95099832	95099832	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:95099832A>C	ENST00000375587.3	+	3	814	c.299A>C	c.(298-300)aAa>aCa	p.K100T		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	100					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						GGTATTAGAAAAGTTCTACAG	0.289000													5	84					0	0	1	0	0
SHROOM1	134549	broad.mit.edu	37	5	132160067	132160067	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:132160067C>A	ENST00000378679.3	-	7	2090	c.1286G>T	c.(1285-1287)aGa>aTa	p.R429I	SHROOM1_ENST00000319854.3_Missense_Mutation_p.R429I|SHROOM1_ENST00000378676.1_Missense_Mutation_p.R360I	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	429					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGCCAGTTCTTTGGCCTAA	0.537000													13	12					0.00010058	0.000104397	1	1	0
SLC28A3	64078	broad.mit.edu	37	9	86895726	86895726	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:86895726G>A	ENST00000376238.4	-	15	1768	c.1719C>T	c.(1717-1719)atC>atT	p.I573I	SLC28A3_ENST00000537648.1_Silent_p.I504I|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	573					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TGAGTCCGCCGATCACGATTC	0.413000													13	24					0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96407592	96407592	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:96407592A>C	ENST00000228740.2	-	13	1385	c.1244T>G	c.(1243-1245)tTt>tGt	p.F415C	LTA4H_ENST00000413268.2_Missense_Mutation_p.F391C|LTA4H_ENST00000552789.1_Missense_Mutation_p.F391C|LTA4H_ENST00000548375.1_5'UTR	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	415					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						CTTATAGGAAAACTTCTCAAC	0.294000													18	27					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71978174	71978174	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:71978174T>G	ENST00000266674.5	+	18	2695	c.2384T>G	c.(2383-2385)tTt>tGt	p.F795C	LGR5_ENST00000540815.2_Missense_Mutation_p.F771C|LGR5_ENST00000536515.1_Missense_Mutation_p.F723C			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	795						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AACCTTACATTTATCAGTCCT	0.418000													49	48					0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110726086	110726086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:110726086G>A	ENST00000368924.3	-	4	448	c.433C>T	c.(433-435)Cga>Tga	p.R145*	DDO_ENST00000368923.3_Intron	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	117					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	p.R145*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GTCATCTTTCGAAATCCCAGA	0.463000													24	24					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49658054	49658054	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:49658054C>T	ENST00000252825.4	-	1	627	c.441G>A	c.(439-441)gaG>gaA	p.E147E	HRC_ENST00000595625.1_Silent_p.E147E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	147	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGTGCCTGTGCTCAGCTGAGT	0.587000													50	52					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733799	152733799	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:152733799T>G	ENST00000368773.1	+	2	1793	c.1735T>G	c.(1735-1737)Ttt>Gtt	p.F579V	KPRP_ENST00000606109.1_Missense_Mutation_p.F579V	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	579						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGCTTATTTTTAAAGGAA	0.478000													29	25					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123554354	123554354	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:123554354G>A	ENST00000422452.2	-	25	4852	c.4789C>T	c.(4789-4791)Cgc>Tgc	p.R1597C	TENM1_ENST00000371130.3_Missense_Mutation_p.R1590C|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GCATCACGGCGAATGTGCACT	0.493000													13	1					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42436661	42436661	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:42436661G>A	ENST00000397272.3	-	17	2059	c.1968C>T	c.(1966-1968)ttC>ttT	p.F656F	PLA2G4F_ENST00000382396.4_Silent_p.F654F	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	654	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCCAGGCCACGAACTCCCTGC	0.612000													34	41					0	0	1	0	0
CCDC134	79879	broad.mit.edu	37	22	42221787	42221787	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:42221787G>A	ENST00000255784.5	+	7	754	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	CCDC134_ENST00000402061.3_Missense_Mutation_p.R104Q	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	217	Arg/Glu/Lys-rich (mixed charge).					extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						AAGGAGATCCGAAAAGGCCCA	0.552000													32	36					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710628	140710628	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140710628T>G	ENST00000517417.1	+	1	377	c.377T>G	c.(376-378)aTt>aGt	p.I126S	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.I126S	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAATTGATATTAATGACAAC	0.408000													97	83					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5919702	5919702	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:5919702A>C	ENST00000399933.3	-	8	6293	c.6294T>G	c.(6292-6294)ccT>ccG	p.P2098P	KIAA2026_ENST00000381461.2_Silent_p.P2068P	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	2098										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CAGCTCTGTCAGGCTTCTCTA	0.403000													10	12					0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7534049	7534049	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:7534049T>G	ENST00000380450.4	+	3	286	c.255T>G	c.(253-255)ttT>ttG	p.F85L	SHBG_ENST00000572262.1_Missense_Mutation_p.F27L|SHBG_ENST00000441599.2_Missense_Mutation_p.F85L|SHBG_ENST00000574539.1_Missense_Mutation_p.F27L|SHBG_ENST00000572182.1_Missense_Mutation_p.F27L|SHBG_ENST00000575903.1_Missense_Mutation_p.F85L|SHBG_ENST00000340624.5_Missense_Mutation_p.F27L|SHBG_ENST00000576478.1_Missense_Mutation_p.F27L|SHBG_ENST00000576728.1_Missense_Mutation_p.F27L|SHBG_ENST00000575314.1_Missense_Mutation_p.F27L|SHBG_ENST00000416273.3_Missense_Mutation_p.F85L|SHBG_ENST00000570547.1_Missense_Mutation_p.F27L	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	85	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GAGTGATTTTTTATGGGGATA	0.512000													16	20					0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108127810	108127810	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:108127810C>T	ENST00000374720.3	+	11	1547	c.1300C>T	c.(1300-1302)Cgc>Tgc	p.R434C	SLC44A1_ENST00000374724.1_Missense_Mutation_p.R434C|SLC44A1_ENST00000343170.7_Missense_Mutation_p.R226C|SLC44A1_ENST00000374723.1_Missense_Mutation_p.R434C	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	434						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	ATCAGTAAATCGCCTTATTCG	0.358000													22	35					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579264	179579264	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179579264G>T	ENST00000589042.1	-	91	26461	c.26237C>A	c.(26236-26238)tCt>tAt	p.S8746Y	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7502Y|TTN_ENST00000591111.1_Missense_Mutation_p.S8429Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8429	Ig-like 70.						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)			AACGACAGTAGATATGTCACT	0.418000													14	21					1.49906e-05	1.57744e-05	1	1	0
MCOLN3	55283	broad.mit.edu	37	1	85506793	85506793	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:85506793T>C	ENST00000370587.1	-	4	672	c.296A>G	c.(295-297)aAa>aGa	p.K99R	MCOLN3_ENST00000370589.2_Missense_Mutation_p.K99R|MCOLN3_ENST00000341115.4_Intron|WDR63_ENST00000370596.1_Intron			Q8TDD5	MCLN3_HUMAN	mucolipin 3	99						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GAAAAGGTGTTTGAATGCTAT	0.383000													14	66					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28124274	28124274	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:28124274T>C	ENST00000304658.5	-	16	2602	c.2102A>G	c.(2101-2103)aAa>aGa	p.K701R	XPO6_ENST00000565698.1_Missense_Mutation_p.K687R	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	701					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GTTGAATACTTTCTGCACTGC	0.592000													22	40					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16021607	16021607	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:16021607A>C	ENST00000350896.3	-	5	981	c.784T>G	c.(784-786)Tct>Gct	p.S262A	MSR1_ENST00000262101.5_Missense_Mutation_p.S262A|MSR1_ENST00000536385.1_Missense_Mutation_p.S36A|MSR1_ENST00000381998.4_Missense_Mutation_p.S262A|MSR1_ENST00000445506.2_Missense_Mutation_p.S280A|MSR1_ENST00000355282.2_Missense_Mutation_p.S262A	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	262					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AAGGTCTGAGAATGTTCCCAA	0.308000													17	17					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103343704	103343704	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:103343704T>G	ENST00000358392.2	-	67	5645	c.5328A>C	c.(5326-5328)gaA>gaC	p.E1776D	COL11A1_ENST00000512756.1_Missense_Mutation_p.E1648D|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1725D|COL11A1_ENST00000370096.3_Missense_Mutation_p.E1764D	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1764	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)		TGACAGTCTTTTCATAGCCTT	0.303000													10	15					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110234388	110234388	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:110234388T>C	ENST00000418703.2	-	6	1368	c.1274A>G	c.(1273-1275)gAc>gGc	p.D425G	TRPV4_ENST00000541794.1_Missense_Mutation_p.D378G|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000536838.1_Missense_Mutation_p.D391G|TRPV4_ENST00000261740.2_Missense_Mutation_p.D425G|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000392719.2_Missense_Mutation_p.D378G	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	425					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCCACACGTGTCCAGGGAGGA	0.612000													39	35					0	0	1	0	0
MGAT4B	11282	broad.mit.edu	37	5	179226094	179226094	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:179226094G>A	ENST00000337755.5	-	10	2108	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	MGAT4B_ENST00000292591.7_Missense_Mutation_p.R393W	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	393					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTCCTTCCGCAGCGCCTGC	0.612000													69	88					0	0	1	0	0
ECHDC3	79746	broad.mit.edu	37	10	11789407	11789407	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:11789407C>A	ENST00000379215.4	+	2	441	c.230C>A	c.(229-231)tCt>tAt	p.S77Y	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	77						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						ATGCTGAAGTCTCTCCAAAGT	0.443000													24	83					5.45024e-15	6.5479e-15	1	1	0
RNF17	56163	broad.mit.edu	37	13	25453351	25453351	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:25453351A>G	ENST00000255324.5	+	35	4852	c.4800A>G	c.(4798-4800)acA>acG	p.T1600T	RNF17_ENST00000381921.1_Silent_p.T1558T|RNF17_ENST00000339524.3_Silent_p.T610T	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1600					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGATAGTGACATTATATGACG	0.393000													21	28					0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41746765	41746765	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:41746765C>T	ENST00000301831.4	-	26	3129	c.2667G>A	c.(2665-2667)acG>acA	p.T889T		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	889							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CATCTATGTTCGTTTCTCCTG	0.289000													27	38					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25819932	25819932	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:25819932C>T	ENST00000244527.4	-	4	534	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	SLC17A1_ENST00000468082.1_Missense_Mutation_p.R140Q|SLC17A1_ENST00000427328.1_Missense_Mutation_p.R140Q|SLC17A1_ENST00000476801.1_Missense_Mutation_p.R140Q	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	140					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.R140L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CTGAACTGCTCGACATACAAC	0.413000													31	33					0	0	1	0	0
UTP3	57050	broad.mit.edu	37	4	71555361	71555361	+	Missense_Mutation	SNP	C	C	T	rs150475938	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:71555361C>T	ENST00000254803.2	+	1	1166	c.967C>T	c.(967-969)Cgt>Tgt	p.R323C		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	323					brain development|chromatin modification|gene silencing	nucleolus		p.R323C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			CTCAGAAATTCGTCATCTGTT	0.428000													67	99					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7948570	7948570	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:7948570C>A	ENST00000380183.4	+	7	1003	c.864C>A	c.(862-864)ttC>ttA	p.F288L	ALOX15B_ENST00000380173.2_Missense_Mutation_p.F288L|ALOX15B_ENST00000572022.1_Missense_Mutation_p.F288L|ALOX15B_ENST00000573359.1_Missense_Mutation_p.F288L	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	288	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCTCCCTGTTCTTGGTGGATC	0.547000													62	75					1.87469e-40	2.63723e-40	1	1	0
GBP1	2633	broad.mit.edu	37	1	89523768	89523768	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:89523768C>T	ENST00000370473.4	-	6	1000	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	261					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TGCACAAATTCGGGGTCCAGC	0.458000													100	159					0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37265612	37265612	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:37265612G>A	ENST00000315392.4	-	3	499	c.288C>T	c.(286-288)ctC>ctT	p.L96L	PLXDC1_ENST00000444911.2_Silent_p.L56L|PLXDC1_ENST00000539608.1_Silent_p.L23L|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Silent_p.L96L	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	96					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGGGGCCATAGAGACGGGACA	0.592000													6	7					0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	168910670	168910670	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:168910670G>A	ENST00000354536.5	+	2	380	c.160G>A	c.(160-162)Gca>Aca	p.A54T	SMOC2_ENST00000356284.2_Missense_Mutation_p.A54T	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	54	Kazal-like.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		ACCTCTCTGCGCATCTGACGG	0.463000													40	48					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6376071	6376071	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:6376071C>T	ENST00000262483.8	-	11	1422	c.1335G>A	c.(1333-1335)gaG>gaA	p.E445E	PITPNM3_ENST00000421306.3_Silent_p.E409E|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3		DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCAGCAGTGGCTCGAGCCGTG	0.647000													6	60					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346409	70346409	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:70346409T>C	ENST00000305107.6	-	6	1576	c.1530A>G	c.(1528-1530)aaA>aaG	p.K510K	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000381096.3_Silent_p.K374K	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	510					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AAAACAGACATTTTGTGATGA	0.468000													75	88					0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35045102	35045102	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:35045102T>C	ENST00000290374.4	-	2	1019	c.543A>G	c.(541-543)ctA>ctG	p.L181L		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	181					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		ATGCAGTGCGTAGACCTGATG	0.498000													71	88					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106354	27106354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:27106354C>T	ENST00000324856.7	+	20	6336	c.5965C>T	c.(5965-5967)Cga>Tga	p.R1989*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1772*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1606*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.R317*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1989					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.R1989*(8)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAATACCATTCGAAGCCTGTC	0.552000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								101	5					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275495	130275495	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:130275495G>A	ENST00000257359.6	-	9	3334	c.2628C>T	c.(2626-2628)ccC>ccT	p.P876P		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	876	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TGGCATCCTCGGGTTTCAGAG	0.647000													52	69					0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27512345	27512345	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:27512345C>A	ENST00000396271.3	-	5	538	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Nonsense_Mutation_p.E103*|ACBD5_ENST00000375897.3_Nonsense_Mutation_p.E29*|ACBD5_ENST00000375901.1_Nonsense_Mutation_p.E29*|ACBD5_ENST00000375888.1_Nonsense_Mutation_p.E136*	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	136					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGCAGCAATTCTTCAACTTTC	0.333000													32	42					6.84511e-11	7.80188e-11	1	1	0
NEDD4	4734	broad.mit.edu	37	15	56134328	56134328	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:56134328G>A	ENST00000508342.1	-	15	3198	c.2899C>T	c.(2899-2901)Cgc>Tgc	p.R967C	NEDD4_ENST00000506154.1_Missense_Mutation_p.R951C|NEDD4_ENST00000338963.2_Missense_Mutation_p.R895C|NEDD4_ENST00000435532.3_Missense_Mutation_p.R548C	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	967	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GTTGCTCGGCGAAGTTTCATT	0.398000													24	29					0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112645013	112645013	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:112645013G>T	ENST00000393104.2	+	6	771	c.411G>T	c.(409-411)gaG>gaT	p.E137D	PDCD4_ENST00000280154.7_Missense_Mutation_p.E148D|PDCD4_ENST00000481353.1_3'UTR	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	148					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCTCAAAGGAGAACTGTGTTT	0.323000													34	47					7.61165e-28	1.03159e-27	1	1	0
TXNDC12	51060	broad.mit.edu	37	1	52490248	52490248	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:52490248C>A	ENST00000371626.4	-	5	1363	c.289G>T	c.(289-291)Gaa>Taa	p.E97*	TXNDC12_ENST00000471493.1_5'UTR	NM_015913.3	NP_056997.1	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	166					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GGTTCCTCTTCATCCTATTAA	0.438000													7	11					2.0095e-06	2.14548e-06	1	1	0
RGS9	8787	broad.mit.edu	37	17	63204069	63204069	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:63204069G>A	ENST00000449996.3	+	16	1296	c.1224G>A	c.(1222-1224)ccG>ccA	p.P408P	RGS9_ENST00000443584.3_Silent_p.P408P|RGS9_ENST00000262406.9_Silent_p.P411P	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	411	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TAAAATCTCCGATCTATAAGG	0.403000													16	26					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844286	123844286	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:123844286G>A	ENST00000369005.1	+	4	2611	c.2271G>A	c.(2269-2271)acG>acA	p.T757T	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.T757T|TACC2_ENST00000515273.1_Silent_p.T757T|TACC2_ENST00000334433.3_Silent_p.T757T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.T757T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	757						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCTTGCTGACGTCCCCAGATC	0.602000													61	66					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612972	179612972	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179612972G>T	ENST00000360870.5	-	46	14377	c.14155C>A	c.(14155-14157)Ctt>Att	p.L4719I	TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	828	Ig-like 27.						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)			TTAAGAGAAAGATCAGTTTTT	0.328000													25	20					9.57634e-11	1.08962e-10	1	1	0
HOOK2	29911	broad.mit.edu	37	19	12874355	12874355	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:12874355G>A	ENST00000264827.5	-	21	2161	c.1991C>T	c.(1990-1992)gCc>gTc	p.A664V	HOOK2_ENST00000397668.3_Missense_Mutation_p.A666V	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	666	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						ATTATACCAGGCACTGATGAG	0.532000													173	240					0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144124645	144124645	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:144124645G>T	ENST00000307017.4	+	5	1641	c.1135G>T	c.(1135-1137)Gaa>Taa	p.E379*	USP38_ENST00000510377.1_Nonsense_Mutation_p.E379*	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	379					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ACAATTAACAGAATTGATACA	0.333000													14	37					1.05317e-09	1.17995e-09	1	1	0
TSGA10	80705	broad.mit.edu	37	2	99725299	99725299	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:99725299T>A	ENST00000393483.3	-	7	1051	c.207A>T	c.(205-207)gaA>gaT	p.E69D	TSGA10_ENST00000542655.1_Missense_Mutation_p.E69D|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.E69D|TSGA10_ENST00000410001.1_Missense_Mutation_p.E69D|TSGA10_ENST00000355053.4_Missense_Mutation_p.E69D	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	69					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGTTTACCTGTTCATAAAGAA	0.318000													13	19					0	0	1	0	0
CTSV	1515	broad.mit.edu	37	9	99798905	99798905	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:99798905C>A	ENST00000259470.5	-	5	770	c.521G>T	c.(520-522)gGc>gTc	p.G174V	CTSV_ENST00000538255.1_Missense_Mutation_p.G174V	NM_001333.3	NP_001324.2			cathepsin V																		GCCCTGATTGCCTTGAGGACG	0.522000													38	47					1.836e-18	2.30657e-18	1	1	0
GLB1L3	112937	broad.mit.edu	37	11	134180997	134180997	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:134180997C>T	ENST00000431683.2	+	13	1220	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	407					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCTCCCAAGGCTGTGTATCCC	0.602000													190	194					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152512534	152512534	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:152512534C>A	ENST00000427231.2	-	50	6701	c.6499G>T	c.(6499-6501)Gaa>Taa	p.E2167*	NEB_ENST00000409198.1_Nonsense_Mutation_p.E2167*|NEB_ENST00000604864.1_Nonsense_Mutation_p.E2167*|NEB_ENST00000397345.3_Nonsense_Mutation_p.E2167*|NEB_ENST00000603639.1_Nonsense_Mutation_p.E2167*|NEB_ENST00000172853.10_Nonsense_Mutation_p.E2167*	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	2167					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCTTATATTCATTCTATAAA	0.403000													30	33					1.74197e-06	1.86321e-06	1	1	0
MYO1D	4642	broad.mit.edu	37	17	31075981	31075981	+	Missense_Mutation	SNP	C	C	T	rs140286436		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:31075981C>T	ENST00000318217.5	-	12	1815	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	MYO1D_ENST00000579584.1_Missense_Mutation_p.R504Q|MYO1D_ENST00000394649.4_Missense_Mutation_p.R416Q|MYO1D_ENST00000584232.1_5'UTR	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	504	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ATGTCGAATTCGAAAATCTCG	0.373000													36	53					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75113412	75113412	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:75113412G>T	ENST00000310715.3	-	3	272	c.152C>A	c.(151-153)tCt>tAt	p.S51Y	TTC18_ENST00000340329.3_Missense_Mutation_p.S51Y|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.S51Y|TTC18_ENST00000401621.2_Missense_Mutation_p.S51Y	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	51							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCCTTCTGGAGAAACAGTAAT	0.403000													28	31					7.26314e-15	8.70043e-15	1	1	0
CLSTN1	22883	broad.mit.edu	37	1	9804474	9804474	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:9804474G>T	ENST00000377298.4	-	8	2005	c.1213C>A	c.(1213-1215)Ctt>Att	p.L405I	CLSTN1_ENST00000361311.4_Missense_Mutation_p.L395I|CLSTN1_ENST00000377288.3_Missense_Mutation_p.L405I	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	405					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GAACTGCAAAGAATTGTCTCC	0.572000													22	34					2.39556e-15	2.88909e-15	1	1	0
REG1A	5967	broad.mit.edu	37	2	79348032	79348032	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:79348032G>A	ENST00000233735.1	+	2	148	c.45G>A	c.(43-45)atG>atA	p.M15I		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	15					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCTGCCTGATGTTTCTGTCTC	0.453000													22	29					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70349952	70349952	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:70349952T>C	ENST00000333646.6	+	28	4134	c.3935T>C	c.(3934-3936)tTg>tCg	p.L1312S	MED12_ENST00000374080.3_Missense_Mutation_p.L1312S|MED12_ENST00000374102.1_Missense_Mutation_p.L1312S	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1312					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GACCCAGTGTTGAGTAGTGCC	0.542000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						10	2					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999405	72999405	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:72999405G>A	ENST00000322038.5	+	2	2492	c.1908G>A	c.(1906-1908)ccG>ccA	p.P636P	TSHZ1_ENST00000580243.1_Silent_p.P681P	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	681						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AAGATTTCCCGAAAACGGAGG	0.557000													34	46					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121586797	121586797	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:121586797G>A	ENST00000361976.2	+	20	3070	c.2904G>A	c.(2902-2904)caG>caA	p.Q968Q	INPP5F_ENST00000369080.3_Silent_p.Q358Q	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	968							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AAGATGCACAGAACAAAGTGA	0.438000													43	36					0	0	1	0	0
DPH6	89978	broad.mit.edu	37	15	35746966	35746966	+	Missense_Mutation	SNP	C	C	T	rs146910158		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:35746966C>T	ENST00000256538.4	-	4	394	c.368G>A	c.(367-369)cGt>cAt	p.R123H		NM_080650.3	NP_542381.1			diphthamine biosynthesis 6																		CACTCGAATACGCTGATAGTC	0.264000													15	34					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153332915	153332915	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:153332915C>T	ENST00000281708.4	-	2	1270	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	FBXW7_ENST00000603548.1_Missense_Mutation_p.R14Q|FBXW7_ENST00000604872.1_Missense_Mutation_p.R14Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R14Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	14					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R14Q(4)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GCCTCCAGTTCGTCGTCTTTT	0.483000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								25	25					0	0	1	0	0
RHOV	171177	broad.mit.edu	37	15	41165559	41165559	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:41165559C>T	ENST00000220507.4	-	3	557	c.408G>A	c.(406-408)gcG>gcA	p.A136A		NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN	ras homolog family member V	136					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GCAGCACAGGCGCCTGGGGGT	0.647000													63	75					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43708135	43708135	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:43708135G>A	ENST00000398437.1	+	10	1696	c.1548G>A	c.(1546-1548)cgG>cgA	p.R516R	ABCG1_ENST00000361802.2_Silent_p.R370R|ABCG1_ENST00000340588.4_Silent_p.R478R|ABCG1_ENST00000343687.3_Silent_p.R381R|ABCG1_ENST00000347800.2_Silent_p.R367R|ABCG1_ENST00000398449.3_Silent_p.R370R|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.R372R			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	370	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TTTGGCACCGGCCCTCTGAAG	0.577000													115	133					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835477	38835477	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:38835477C>T	ENST00000449082.2	-	1	24	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	9					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTGTTAGTTTCGAGGGATCCA	0.453000													51	81					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18234661	18234661	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:18234661C>T	ENST00000380033.4	-	2	350	c.218G>A	c.(217-219)cGt>cAt	p.R73H	BEND2_ENST00000380030.3_Missense_Mutation_p.R73H	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	73										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTGGAGTGGACGGTGATGGCC	0.398000													26	5					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104452461	104452461	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:104452461C>T	ENST00000297579.5	+	9	1781	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	350					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AATGAACATTCGCCTGTGGAA	0.328000													57	60					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956214	42956214	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:42956214G>A	ENST00000541208.1	+	5	1018	c.649G>A	c.(649-651)Gag>Aag	p.E217K	ZNF662_ENST00000440367.2_Missense_Mutation_p.E217K|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.E243K			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TCATAATGGAGAGAAGGTCTA	0.383000													50	58					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149809878	149809878	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:149809878G>A	ENST00000370396.2	+	8	719	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	MTM1_ENST00000413012.2_Missense_Mutation_p.R185Q|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.R107Q|MTM1_ENST00000542741.1_Missense_Mutation_p.R127Q	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	222	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TTTAGGTCCCGAAATCGAATT	0.428000													50	2					0	0	1	0	0
ARL15	54622	broad.mit.edu	37	5	53409210	53409210	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:53409210C>T	ENST00000504924.1	-	4	377	c.284G>A	c.(283-285)cGc>cAc	p.R95H	ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000502271.1_5'UTR|ARL15_ENST00000507646.2_Missense_Mutation_p.R95H	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	95							GTP binding			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				TTGGTAGTAGCGGCTCCAGTA	0.403000													22	35					0	0	1	0	0
P2RX6P	440799	broad.mit.edu	37	22	21398453	21398453	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:21398453G>A	ENST00000439119.1	-	0	186					NR_002829.1																						GTGGCTTCACGAAGTCGGCCA	0.587000													5	4					0	0	1	0	0
SRSF6	6431	broad.mit.edu	37	20	42089160	42089160	+	Missense_Mutation	SNP	G	G	A	rs144902850		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:42089160G>A	ENST00000244020.3	+	5	702	c.596G>A	c.(595-597)cGa>cAa	p.R199Q		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	199	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						AATAGGTCTCGATCTAGAAGA	0.418000													46	54					0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	169998123	169998123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:169998123C>T	ENST00000295797.4	+	9	1119	c.814C>T	c.(814-816)Cga>Tga	p.R272*		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	272	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ACTGTTGGTTCGATTAAAAAA	0.373000													24	30					0	0	1	0	0
VSIG1	340547	broad.mit.edu	37	X	107310214	107310214	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:107310214G>A	ENST00000415430.3	+	4	531	c.370G>A	c.(370-372)Gat>Aat	p.D124N	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Missense_Mutation_p.D88N	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	88	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GCAATTTAAAGATCGAATTAC	0.433000													47	7					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105179351	105179351	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:105179351G>T	ENST00000369797.3	+	16	2257	c.2163G>T	c.(2161-2163)aaG>aaT	p.K721N		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	721					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGGATCCCAAGAACTTCTCAG	0.493000													41	59					6.1244e-12	7.05735e-12	1	1	0
GRM5	2915	broad.mit.edu	37	11	88300776	88300776	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:88300776G>A	ENST00000418177.2	-	8	2442	c.2075C>T	c.(2074-2076)gCc>gTc	p.A692V	GRM5_ENST00000393297.1_Missense_Mutation_p.A692V|GRM5_ENST00000305447.4_Missense_Mutation_p.A692V|GRM5_ENST00000305432.5_Missense_Mutation_p.A692V|GRM5_ENST00000455756.2_Missense_Mutation_p.A692V			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	692					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CACTAGCTGGGCACAGGCACT	0.473000													29	41					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16974595	16974595	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:16974595C>T	ENST00000379803.1	+	11	1481	c.1467C>T	c.(1465-1467)gaC>gaT	p.D489D	SIN3B_ENST00000248054.5_Silent_p.D457D|SIN3B_ENST00000595541.1_Silent_p.D47D	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	489	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	p.D489D(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCTGTGAGGACGAGCGCTTCG	0.617000													27	25					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776794	13776794	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:13776794C>A	ENST00000265104.4	-	55	9231	c.9127G>T	c.(9127-9129)Gat>Tat	p.D3043Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3043	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)					TCAATTTCATCTCGAGCAAAT	0.383000									Kartagener syndrome				26	46					7.41945e-09	8.19551e-09	1	1	0
EXD1	161829	broad.mit.edu	37	15	41476596	41476596	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:41476596A>C	ENST00000314992.5	-	10	1268	c.1078T>G	c.(1078-1080)Ttt>Gtt	p.F360V	EXD1_ENST00000458580.2_Missense_Mutation_p.F418V	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	360					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TCTATCCTAAAATTTTTACCA	0.378000													67	72					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123785874	123785874	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:123785874G>A	ENST00000422452.2	-	8	1532	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	TENM1_ENST00000371130.3_Missense_Mutation_p.S490L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTCCTGAAGCGAAGTTAAGAT	0.428000													51	5					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104376	168104376	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:168104376C>T	ENST00000409195.1	+	9	6563	c.6474C>T	c.(6472-6474)agC>agT	p.S2158S	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.S1936S|XIRP2_ENST00000295237.9_Silent_p.S2158S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1983	Pro-rich.				actin cytoskeleton organization	cell junction	actin binding			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						ATACACAAAGCTCCAAGCCCA	0.398000													28	28					0	0	1	0	0
NFYC	4802	broad.mit.edu	37	1	41215314	41215314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:41215314C>T	ENST00000372652.1	+	4	515	c.247C>T	c.(247-249)Cga>Tga	p.R83*	NFYC_ENST00000440226.3_Nonsense_Mutation_p.R83*|NFYC_ENST00000308733.5_Nonsense_Mutation_p.R83*|NFYC_ENST00000425457.2_Nonsense_Mutation_p.R83*|NFYC_ENST00000456393.2_Nonsense_Mutation_p.R83*|NFYC_ENST00000372653.1_Nonsense_Mutation_p.R83*|NFYC_ENST00000372651.1_Nonsense_Mutation_p.R83*|NFYC_ENST00000447388.3_Nonsense_Mutation_p.R83*|NFYC_ENST00000427410.2_Intron|NFYC_ENST00000372654.1_Nonsense_Mutation_p.R83*			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	83					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GTTGACTCTTCGAGCCTGGAT	0.483000													60	52					0	0	1	0	0
TTC19	54902	broad.mit.edu	37	17	15930705	15930705	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:15930705A>C	ENST00000261647.5	+	10	1481	c.1012A>C	c.(1012-1014)Aaa>Caa	p.K338Q	TTC19_ENST00000486880.2_Missense_Mutation_p.K459Q|TTC19_ENST00000497842.2_3'UTR	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	338					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TACACAAGCAAAAGAGATCTA	0.393000													33	24					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885024	88885024	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:88885024G>T	ENST00000319675.3	-	1	1272	c.1176C>A	c.(1174-1176)ttC>ttA	p.F392L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	392										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AACCGTAGGAGAAACAATAAA	0.512000													21	37					2.4624e-09	2.74096e-09	1	1	0
GOLGB1	2804	broad.mit.edu	37	3	121414329	121414329	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:121414329C>A	ENST00000393667.3	-	13	5151	c.5041G>T	c.(5041-5043)Gaa>Taa	p.E1681*	GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.E1676*	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1676					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCATCTTTTCTTTCATTTCC	0.438000													82	89					1.09326e-46	1.55104e-46	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186670982	186670982	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:186670982G>A	ENST00000343098.5	+	17	17216	c.17216G>A	c.(17215-17217)cGa>cAa	p.R5739Q	FSIP2_ENST00000424728.1_Missense_Mutation_p.R5650Q	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATAAGAATTCGAACATCAAGC	0.378000													23	28					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739598	15739598	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:15739598G>A	ENST00000441682.2	+	0	1403							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTTCGACCCAGAAAACGCCCA	0.602000													45	61					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982273	61982273	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:61982273C>T	ENST00000370263.4	-	5	711	c.490G>A	c.(490-492)Gac>Aac	p.D164N	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	164					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	AAGGTGACGTCGATGCTGCAG	0.607000													37	58					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76356459	76356459	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:76356459G>A	ENST00000263187.3	+	17	2409	c.2305G>A	c.(2305-2307)Gaa>Aaa	p.E769K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	769					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TAATACGGAAGAAGGTATTGG	0.284000								Mismatch excision repair (MMR)					11	23					0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59910973	59910973	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:59910973T>C	ENST00000396065.1	+	3	984	c.536T>C	c.(535-537)aTt>aCt	p.I179T	GCNT3_ENST00000560585.1_Missense_Mutation_p.I179T	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	179					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTCAAAGCAATTATTTCTTGC	0.483000													61	70					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72771878	72771878	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:72771878T>C	ENST00000261180.4	+	3	1253	c.1157T>C	c.(1156-1158)gTg>gCg	p.V386A		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	386					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TACTTTAAAGTGCCCTATTCC	0.363000													54	54					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730187	140730187	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140730187C>T	ENST00000523390.1	+	1	360	c.360C>T	c.(358-360)atC>atT	p.I120I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTTGTAATCCAAGATATTA	0.418000													47	43					0	0	1	0	0
GNE	10020	broad.mit.edu	37	9	36236907	36236907	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:36236907T>G	ENST00000396594.3	-	4	895	c.784A>C	c.(784-786)Aaa>Caa	p.K262Q	GNE_ENST00000447283.2_Missense_Mutation_p.K231Q|GNE_ENST00000543356.2_Missense_Mutation_p.K226Q|GNE_ENST00000377902.5_Missense_Mutation_p.K231Q|GNE_ENST00000539208.1_Intron|GNE_ENST00000539815.1_Missense_Mutation_p.K231Q	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	231					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TCAAACATTTTTATGGAATGC	0.343000													30	32					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049980	42049980	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:42049980G>T	ENST00000372584.1	-	3	1503	c.489C>A	c.(487-489)gtC>gtA	p.V163V	HIVEP3_ENST00000429157.2_Silent_p.V163V|HIVEP3_ENST00000247584.5_Silent_p.V163V|HIVEP3_ENST00000372583.1_Silent_p.V163V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	163					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAGGCACGAAGACTTTGGGGA	0.597000													50	79					7.05377e-20	9.02537e-20	1	1	0
MPPED2	744	broad.mit.edu	37	11	30517006	30517006	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:30517006C>T	ENST00000448418.2	-	4	733	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	MPPED2_ENST00000358117.5_Missense_Mutation_p.E125K	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	125					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GCCATGAATTCCTTATCAAAT	0.393000													23	31					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10161225	10161225	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:10161225G>A	ENST00000377157.3	+	4	1120	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	UBE4B_ENST00000253251.8_Missense_Mutation_p.R136Q|UBE4B_ENST00000343090.6_Missense_Mutation_p.R136Q	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	136					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.R136Q(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GAAAATGATCGAAGAGAAAAG	0.388000													22	31					0	0	1	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337352	22337352	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:22337352C>T	ENST00000390436.2	+	0	166																											TCAGACAGTGCCTCAAACTAC	0.443000													7	203					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129905633	129905633	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:129905633T>C	ENST00000368654.3	-	13	4846	c.4471A>G	c.(4471-4473)Aaa>Gaa	p.K1491E	MKI67_ENST00000368653.3_Missense_Mutation_p.K1131E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1491	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGGCTATTTTGGTAGTTTTC	0.498000													152	175					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702131	179702131	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179702131A>G	ENST00000420890.2	-	23	3932	c.3815T>C	c.(3814-3816)tTt>tCt	p.F1272S	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.F697S	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	697							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGCATCCGCAAAGGCAACAGG	0.527000													38	40					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39499646	39499646	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:39499646T>A	ENST00000263881.3	-	25	2156	c.1832A>T	c.(1831-1833)aAc>aTc	p.N611I	MAP4K3_ENST00000437545.1_Missense_Mutation_p.N527I|MAP4K3_ENST00000341681.5_Missense_Mutation_p.N590I|MAP4K3_ENST00000536018.1_Missense_Mutation_p.N164I	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	611	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CAAGCAATTGTTCATTACATA	0.274000													28	40					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93822055	93822055	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:93822055G>A	ENST00000315765.9	+	12	2223	c.2215G>A	c.(2215-2217)Gct>Act	p.A739T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	739	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTACATCGCCGCTGAAGAAGT	0.532000													36	65					0	0	1	0	0
CD3G	917	broad.mit.edu	37	11	118222353	118222353	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:118222353G>T	ENST00000532917.1	+	5	518	c.450G>T	c.(448-450)aaG>aaT	p.K150N	CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Missense_Mutation_p.K46N	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	150	ITAM.				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	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;3.04e-05)		CTTCAGACAAGCAGACTCTGT	0.383000													42	51					1.47857e-17	1.83719e-17	1	1	0
ANK3	288	broad.mit.edu	37	10	61847919	61847919	+	Nonsense_Mutation	SNP	G	G	A	rs142673853		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:61847919G>A	ENST00000280772.2	-	29	3717	c.3526C>T	c.(3526-3528)Cga>Tga	p.R1176*	ANK3_ENST00000503366.1_Nonsense_Mutation_p.R1177*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.R310*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.R1170*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.R1176*(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGCCCACTCGAATTCTTTTA	0.468000													31	60					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404494	20404494	+	Silent	SNP	C	C	T	rs141997601		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:20404494C>T	ENST00000285600.4	+	1	728	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I223I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCATTTTGATCGGTGTCCGAT	0.423000													22	76					0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66855937	66855937	+	Missense_Mutation	SNP	C	C	T	rs113055189		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:66855937C>T	ENST00000341509.5	-	4	528	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_5'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	133					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.E133K(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGTAGAATTCGATTCCCTTC	0.527000													21	24					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62254772	62254772	+	Silent	SNP	G	G	A	rs143908630		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:62254772G>A	ENST00000474889.1	+	20	3314	c.2937G>A	c.(2935-2937)acG>acA	p.T979T	PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Silent_p.T950T|PTPRG-AS1_ENST00000495542.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	979	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TTATTGTCACGCTGAAGAGCA	0.388000													41	34					0	0	1	0	0
FBXO5	26271	broad.mit.edu	37	6	153296353	153296353	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:153296353G>A	ENST00000367241.3	-	2	749	c.369C>T	c.(367-369)ttC>ttT	p.F123F	FBXO5_ENST00000229758.3_Silent_p.F169F	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	169					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		GACTGTCACCGAAATTCTCCT	0.423000													56	43					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7220856	7220856	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:7220856C>A	ENST00000399464.2	-	27	4257	c.4242G>T	c.(4240-4242)aaG>aaT	p.K1414N	NEURL4_ENST00000570460.1_Missense_Mutation_p.K1390N|RP11-542C16.2_ENST00000575474.1_Missense_Mutation_p.R228I|NEURL4_ENST00000315614.7_Missense_Mutation_p.K1412N|NEURL4_ENST00000574120.1_5'UTR	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTGCCACTTCTTGGTTAGTG	0.597000													40	38					1.57019e-19	1.99758e-19	1	1	0
KRT5	3852	broad.mit.edu	37	12	52911690	52911690	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:52911690G>T	ENST00000252242.4	-	4	1308	c.918C>A	c.(916-918)ttC>ttA	p.F306L		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	306	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGCATCAAAGAACATCTTCA	0.413000													44	55					5.20837e-25	6.92674e-25	1	1	0
LAPTM5	7805	broad.mit.edu	37	1	31230535	31230535	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:31230535C>T	ENST00000294507.3	-	1	132	c.58G>A	c.(58-60)Gca>Aca	p.A20T	LAPTM5_ENST00000476492.1_5'UTR	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	20					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGTGGTTGCGATGCGGACA	0.627000													32	29					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74027009	74027009	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:74027009G>A	ENST00000358602.4	-	3	720	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	ANKRD17_ENST00000509867.2_Missense_Mutation_p.R89W|ANKRD17_ENST00000330838.6_Missense_Mutation_p.R202W	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	202					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCAACCTCCGAAGTACTTCA	0.458000													24	40					0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15890790	15890790	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:15890790C>T	ENST00000375847.3	+	11	1698	c.1534C>T	c.(1534-1536)Cga>Tga	p.R512*	DNAJC16_ENST00000375838.1_Nonsense_Mutation_p.R512*|DNAJC16_ENST00000375849.1_Nonsense_Mutation_p.R512*|DNAJC16_ENST00000483270.1_3'UTR	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	512					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTTTCTCCTTCGATGGTTCTA	0.468000													33	50					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124066009	124066009	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:124066009A>G	ENST00000360013.3	+	10	1788	c.1661A>G	c.(1660-1662)aAc>aGc	p.N554S	KALRN_ENST00000240874.3_Missense_Mutation_p.N554S|KALRN_ENST00000460856.1_Missense_Mutation_p.N554S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	554					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGGATTGAAAACCATGGTGAG	0.493000													71	79					0	0	1	0	0
CRYBB1	1414	broad.mit.edu	37	22	27012279	27012279	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:27012279G>T	ENST00000215939.2	-	2	135	c.5C>A	c.(4-6)tCt>tAt	p.S2Y		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	2	N-terminal arm.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGCAGCCTGAGACATGGTTCC	0.612000													31	20					5.8336e-16	7.11913e-16	1	1	0
C3orf30	152405	broad.mit.edu	37	3	118865408	118865408	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:118865408T>C	ENST00000295622.1	+	1	412	c.372T>C	c.(370-372)aaT>aaC	p.N124N		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	124										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AAGCTAATAATGTACAGCATG	0.468000													28	31					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107552	168107552	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:168107552C>A	ENST00000409195.1	+	9	9739	c.9650C>A	c.(9649-9651)tCt>tAt	p.S3217Y	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2995Y|XIRP2_ENST00000295237.9_Missense_Mutation_p.S3217Y|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3042					actin cytoskeleton organization	cell junction	actin binding			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						ATCATCATGTCTCCTGCAACA	0.448000													41	54					8.16277e-20	1.04343e-19	1	1	0
UBD	10537	broad.mit.edu	37	6	29523790	29523790	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:29523790T>G	ENST00000377050.4	-	2	588	c.365A>C	c.(364-366)aAg>aCg	p.K122T	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	122	Ubiquitin 2.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TATACCCGTCTTAGTCTCGAT	0.498000													47	51					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71577349	71577349	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:71577349G>T	ENST00000409544.1	+	2	1895	c.1265G>T	c.(1264-1266)aGa>aTa	p.R422I	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Missense_Mutation_p.R422I|ZNF638_ENST00000264447.4_Missense_Mutation_p.R422I|ZNF638_ENST00000377802.2_Missense_Mutation_p.R422I	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	422					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GCATCTCCAAGAATATTTCCA	0.383000													50	61					2.81731e-22	3.67173e-22	1	1	0
NIM1K	167359	broad.mit.edu	37	5	43246106	43246106	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:43246106C>T	ENST00000512796.1	+	2	1728	c.229C>T	c.(229-231)Cga>Tga	p.R77*	NIM1_ENST00000326035.2_Nonsense_Mutation_p.R77*			Q8IY84	NIM1_HUMAN		77	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R77*(1)									CTACCGAATTCGAGGGGAAAT	0.537000													28	38					0	0	1	0	0
FKBP11	51303	broad.mit.edu	37	12	49315773	49315773	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:49315773C>A	ENST00000550765.1	-	6	998	c.600G>T	c.(598-600)aaG>aaT	p.K200N	CCDC65_ENST00000266984.5_Intron|RP11-302B13.5_ENST00000398092.4_Intron|FKBP11_ENST00000444214.2_Missense_Mutation_p.K98N|AC073610.5_ENST00000537495.1_3'UTR	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	200					protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(3)|lung(1)	5						tttattatttCTTTTTGCTCT	0.373000													8	15					0.000157383	0.000162881	1	1	0
TRPC4	7223	broad.mit.edu	37	13	38320181	38320181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:38320181C>A	ENST00000379705.3	-	3	1647	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	TRPC4_ENST00000379673.2_Nonsense_Mutation_p.E264*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.E264*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.E264*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.E264*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.E264*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.E264*|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000338947.5_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	264	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATTTCCAGTTCTCTGGAACTT	0.408000													62	76					3.90926e-44	5.53292e-44	1	1	0
NOL10	79954	broad.mit.edu	37	2	10717848	10717848	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:10717848G>A	ENST00000345985.3	-	19	1821	c.1711C>T	c.(1711-1713)Cgt>Tgt	p.R571C	NOL10_ENST00000538384.1_Missense_Mutation_p.R595C|NOL10_ENST00000542668.1_Missense_Mutation_p.R571C|NOL10_ENST00000381685.5_Missense_Mutation_p.R621C	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	621						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		ATTTTCAAACGATCTTCAAGG	0.333000													8	10					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096959	41096959	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:41096959G>T	ENST00000291842.5	+	18	2019	c.1970G>T	c.(1969-1971)cGc>cTc	p.R657L	SHKBP1_ENST00000600733.1_Missense_Mutation_p.R632L	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	657						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGCCCGGCGCCGTGGTGGG	0.682000													16	20					3.41278e-10	3.84949e-10	1	1	0
NBPF3	84224	broad.mit.edu	37	1	21804583	21804583	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:21804583T>C	ENST00000342104.5	+	9	1338	c.1014T>C	c.(1012-1014)tgT>tgC	p.C338C	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000318220.6_Intron|NBPF3_ENST00000318249.5_Intron	NM_001256416.1	NP_001243345.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	330	NBPF 2.|Poly-Glu.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGTTTTGTTGTCTAATCTCTG	0.458000													36	58					0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25701492	25701492	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:25701492G>A	ENST00000377961.2	+	11	928	c.760G>A	c.(760-762)Gac>Aac	p.D254N	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	254	EF-hand 6.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCGTCACTGCGACGTGAACAA	0.493000													44	37					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3680291	3680291	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:3680291A>G	ENST00000294600.2	+	8	1427	c.1343A>G	c.(1342-1344)cAa>cGa	p.Q448R		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	448										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TCTTTACAACAACAAGTGGAT	0.577000													37	50					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150345144	150345144	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:150345144G>A	ENST00000218316.3	+	0	20				GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50						cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGGACCTGGCTGCTGATCC	0.587000													48	1					0	0	1	0	0
PRELID1	27166	broad.mit.edu	37	5	176731635	176731635	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:176731635C>A	ENST00000303204.4	+	2	314	c.102C>A	c.(100-102)gtC>gtA	p.V34V	PRELID1_ENST00000503216.1_Silent_p.V34V|PRELID1_ENST00000502670.1_3'UTR			Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	34					immune response|multicellular organismal development	mitochondrion|nucleus				endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAAACATGTCTTGACGGAAG	0.597000													29	17					2.47511e-08	2.72047e-08	1	1	0
CCL27	10850	broad.mit.edu	37	9	34661969	34661969	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:34661969T>A	ENST00000259631.4	-	3	369	c.311A>T	c.(310-312)aAt>aTt	p.N104I	RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	104					cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CATCCCAAAATTCAGCTTGGG	0.473000													69	107					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7668894	7668894	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:7668894G>A	ENST00000507866.2	+	8	1224	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	SORCS2_ENST00000329016.9_Missense_Mutation_p.R200Q	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	372						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTTATCGTCGAAATGAATTT	0.493000													68	102					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35644613	35644613	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:35644613T>G	ENST00000440995.2	+	4	571	c.571T>G	c.(571-573)Ttt>Gtt	p.F191V	SPEF2_ENST00000356031.3_Missense_Mutation_p.F191V|SPEF2_ENST00000509059.1_Missense_Mutation_p.F191V|SPEF2_ENST00000282469.6_Missense_Mutation_p.F191V			Q9C093	SPEF2_HUMAN	sperm flagellar 2	191					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCAAAGATGTTTTGATATTGA	0.303000													6	10					0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9974383	9974383	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:9974383G>A	ENST00000295981.3	+	17	1910	c.1692G>A	c.(1690-1692)gcG>gcA	p.A564A	IL17RC_ENST00000455057.1_Silent_p.A461A|IL17RC_ENST00000383812.4_Silent_p.A478A|IL17RC_ENST00000403601.3_Silent_p.A493A|IL17RC_ENST00000416074.2_Silent_p.A332A|IL17RC_ENST00000413608.1_Silent_p.A493A|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	564						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGGATCACGCGAAAGGTGAGC	0.637000											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	51					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47571062	47571062	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:47571062C>A	ENST00000273859.3	+	16	3331	c.3062C>A	c.(3061-3063)tCt>tAt	p.S1021Y		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1021					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAACTGACATCTTGGTGTCAA	0.537000													32	51					2.08457e-15	2.51687e-15	1	1	0
GLUD2	2747	broad.mit.edu	37	X	120182954	120182954	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:120182954G>T	ENST00000328078.1	+	1	1493	c.1416G>T	c.(1414-1416)gaG>gaT	p.E472D		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	472					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTGTTCAAGAGAGTTTAGAAA	0.418000													56	5					3.93605e-18	4.92399e-18	1	1	0
FCRL4	83417	broad.mit.edu	37	1	157557209	157557209	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:157557209A>T	ENST00000271532.1	-	5	839	c.704T>A	c.(703-705)gTc>gAc	p.V235D	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	235	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGACAGGATGACCTCGCCATC	0.532000													31	362					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135615006	135615006	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:135615006C>T	ENST00000520727.1	-	7	1219	c.920G>A	c.(919-921)cGc>cAc	p.R307H	ZFAT_ENST00000520356.1_Missense_Mutation_p.R307H|ZFAT_ENST00000520214.1_Missense_Mutation_p.R307H|ZFAT_ENST00000523399.1_Missense_Mutation_p.R257H|ZFAT_ENST00000377838.3_Missense_Mutation_p.R319H|ZFAT_ENST00000429442.2_Missense_Mutation_p.R307H	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGTGTGCTTGCGCAGGTGCAC	0.567000													19	16					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41132887	41132887	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:41132887C>T	ENST00000308370.7	+	32	4191	c.4191C>T	c.(4189-4191)ttC>ttT	p.F1397F	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Silent_p.F765F|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Silent_p.F1360F|LTBP4_ENST00000396819.3_Silent_p.F1330F	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1398	TB 4.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGATGACTTCGAGGCCCTGT	0.627000													14	9					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131007834	131007834	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:131007834C>T	ENST00000307968.7	-	13	2218	c.2219G>A	c.(2218-2220)cGa>cAa	p.R740Q	FNIP1_ENST00000307954.8_Missense_Mutation_p.R723Q|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.R768Q	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TGCCTGACTTCGAAGCTCAGT	0.438000													44	74					0	0	1	0	0
SNX16	64089	broad.mit.edu	37	8	82752139	82752139	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:82752139G>T	ENST00000396330.2	-	3	589	c.83C>A	c.(82-84)tCt>tAt	p.S28Y	SNX16_ENST00000345957.4_Missense_Mutation_p.S28Y|SNX16_ENST00000353788.4_Missense_Mutation_p.S28Y	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	28					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						GCCAAAAGAAGAACTTCTTTG	0.388000													45	60					5.44703e-19	6.88691e-19	1	1	0
GREB1	9687	broad.mit.edu	37	2	11706766	11706766	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:11706766C>T	ENST00000381486.2	+	4	738	c.438C>T	c.(436-438)ggC>ggT	p.G146G	GREB1_ENST00000234142.5_Silent_p.G146G|GREB1_ENST00000389825.3_Silent_p.G36G|GREB1_ENST00000263834.5_Silent_p.G146G|GREB1_ENST00000381483.2_Silent_p.G146G	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	146						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ATGACAATGGCCACAATGCTC	0.602000													55	63					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192863836	192863836	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:192863836G>A	ENST00000392314.1	-	6	1026	c.635C>T	c.(634-636)tCg>tTg	p.S212L	AC098617.1_ENST00000428980.2_RNA|AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000487771.1_5'UTR|TMEFF2_ENST00000272771.5_Missense_Mutation_p.S212L			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	212	Kazal-like 2.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TTTCTGACACGATGCTTCTTT	0.378000													41	6					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57491701	57491701	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:57491701C>A	ENST00000371236.2	-	10	1002	c.739G>T	c.(739-741)Gaa>Taa	p.E247*	DAB1_ENST00000439789.2_Nonsense_Mutation_p.E161*|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Nonsense_Mutation_p.E280*|DAB1_ENST00000420954.2_Nonsense_Mutation_p.E245*|DAB1_ENST00000414851.2_Nonsense_Mutation_p.E229*|DAB1_ENST00000371234.4_Nonsense_Mutation_p.E247*			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	280					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CCAAAAAGTTCTAATTGGGTC	0.463000													77	97					7.07328e-35	9.82595e-35	1	1	0
CLCA1	1179	broad.mit.edu	37	1	86954771	86954771	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:86954771C>A	ENST00000234701.3	+	9	1626	c.1275C>A	c.(1273-1275)gtC>gtA	p.V425V	CLCA1_ENST00000394711.1_Silent_p.V425V			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	425	VWFA.				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)		TTAACGAGGTCAAACAAAGTG	0.478000													27	24					9.90768e-06	1.04691e-05	1	1	0
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537000													5	64					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101493396	101493396	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:101493396G>T	ENST00000392979.3	+	21	2303	c.1942G>T	c.(1942-1944)Gaa>Taa	p.E648*	ANO4_ENST00000392977.3_Nonsense_Mutation_p.E683*|ANO4_ENST00000550015.1_Nonsense_Mutation_p.E203*|ANO4_ENST00000299222.9_Nonsense_Mutation_p.E203*	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	683						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGTACGACAAGAACATGGACC	0.353000										HNSCC(74;0.22)			37	57					2.1956e-27	2.97111e-27	1	1	0
TMX3	54495	broad.mit.edu	37	18	66381087	66381087	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:66381087C>A	ENST00000299608.2	-	2	413	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	TMX3_ENST00000443099.2_Nonsense_Mutation_p.E33*|TMX3_ENST00000562706.1_Nonsense_Mutation_p.E33*	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	33	Thioredoxin.				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						ACTCACGATTCATCTAAATCT	0.274000													4	10					0.00909568	0.00922191	1	1	0
PPP1CB	5500	broad.mit.edu	37	2	29022141	29022141	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:29022141G>A	ENST00000395366.2	+	8	1228	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	PPP1CB_ENST00000296122.6_Missense_Mutation_p.R319Q|PPP1CB_ENST00000358506.2_Missense_Mutation_p.R319Q|SPDYA_ENST00000462832.1_3'UTR	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	319					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					ACTCCACCTCGAACAGCTAAT	0.353000													22	44					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22828002	22828002	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:22828002C>T	ENST00000404138.1	+	5	1360	c.849C>T	c.(847-849)ttC>ttT	p.F283F	ZBTB40_ENST00000374651.4_Intron|ZBTB40_ENST00000375647.4_Silent_p.F283F	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	283					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F283F(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGAAATGTTTCGAGGGTGAAG	0.453000													37	27					0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477991	88477991	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:88477991G>A	ENST00000267549.3	+	2	1358	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	267					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TCTGGGAAGCGAACTTACACA	0.383000													14	14					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47950747	47950747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:47950747G>A	ENST00000426837.2	-	10	5302	c.5215C>T	c.(5215-5217)Cga>Tga	p.R1739*	MAP4_ENST00000264724.11_Nonsense_Mutation_p.R329*|MAP4_ENST00000360240.6_Intron|MAP4_ENST00000383737.4_Nonsense_Mutation_p.R322*|MAP4_ENST00000395734.3_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	602					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TCTGGGAGTCGAACACCCTTG	0.418000													49	65					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371153	126371153	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:126371153A>C	ENST00000394329.3	+	9	8995	c.8982A>C	c.(8980-8982)aaA>aaC	p.K2994N	FAT4_ENST00000335110.5_Missense_Mutation_p.K1292N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2994	Cadherin 29.				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						CAGTCACCAAAAATGTTAAGG	0.333000													34	34					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28844533	28844533	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:28844533G>A	ENST00000336783.4	+	14	1980	c.1813G>A	c.(1813-1815)Gat>Aat	p.D605N	ATXN2L_ENST00000564304.1_Missense_Mutation_p.D611N|ATXN2L_ENST00000570200.1_Missense_Mutation_p.D605N|ATXN2L_ENST00000395547.2_Missense_Mutation_p.D605N|ATXN2L_ENST00000340394.8_Missense_Mutation_p.D605N|ATXN2L_ENST00000325215.6_Missense_Mutation_p.D605N|ATXN2L_ENST00000382686.4_Missense_Mutation_p.D605N|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000565845.1_3'UTR	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	605						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GTCCGTATCGGATAAGGAGGA	0.592000													73	67					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95718528	95718528	+	RNA	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:95718528T>C	ENST00000480546.1	-	0	2769					NR_002319.2																						TCCCATGCAGTCCCCTGAGCA	0.473000													22	31					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922901	24922901	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:24922901C>A	ENST00000329468.2	+	1	2361	c.1887C>A	c.(1885-1887)caC>caA	p.H629Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTATATTCCACAATACCACCC	0.498000													56	69					1.38909e-20	1.78766e-20	1	1	0
IL3RA	3563	broad.mit.edu	37	X	1464228	1464228	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:1464228G>A	ENST00000331035.4	+	3	433	c.84G>A	c.(82-84)acG>acA	p.T28T	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	28						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CACCAATCACGAACCTAAGGA	0.433000													55	104					0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165765171	165765171	+	Silent	SNP	G	G	A	rs147887551	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:165765171G>A	ENST00000303735.4	-	9	1170	c.840C>T	c.(838-840)ctC>ctT	p.L280L	SLC38A11_ENST00000409058.1_Silent_p.L333L|SLC38A11_ENST00000409662.1_Silent_p.L302L|SLC38A11_ENST00000409149.3_Silent_p.L302L	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	302					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						GAACTATCCCGAGGCAATCAA	0.368000													26	28					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175308	140175308	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140175308G>A	ENST00000526136.1	+	1	759	c.759G>A	c.(757-759)gaG>gaA	p.E253E	PCDHA2_ENST00000378132.1_Silent_p.E253E|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.E253E|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTGTTAGAGAATACGGCAA	0.403000													52	60					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9501561	9501561	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:9501561C>T	ENST00000352665.5	+	5	616	c.547C>T	c.(547-549)Cga>Tga	p.R183*	WDR16_ENST00000299764.5_Nonsense_Mutation_p.R193*|WDR16_ENST00000396219.3_Nonsense_Mutation_p.R115*	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	183						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TGGGACAATTCGAGTATGGGA	0.348000													32	39					0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54418770	54418770	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:54418770G>A	ENST00000245451.4	-	3	564	c.171C>T	c.(169-171)ttC>ttT	p.F57F	BMP4_ENST00000558984.1_Silent_p.F57F|BMP4_ENST00000417573.1_Silent_p.F57F|BMP4_ENST00000559087.1_Silent_p.F57F	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	57					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GTGTCGCCTCGAAGTCCCGCA	0.607000													36	38					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52938436	52938436	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:52938436G>T	ENST00000267119.5	-	9	1521	c.1452C>A	c.(1450-1452)atC>atA	p.I484I		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	484	Tail.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		ACACTCCAGAGATGCAGTTGC	0.622000													30	37					2.24722e-20	2.88573e-20	1	1	0
TEX15	56154	broad.mit.edu	37	8	30706466	30706466	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:30706466A>G	ENST00000256246.2	-	1	142	c.68T>C	c.(67-69)aTt>aCt	p.I23T	TEX15_ENST00000523186.1_5'UTR	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	23										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACCACTTAAAATATTTTTAAG	0.378000													44	47					0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21239788	21239788	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:21239788G>T	ENST00000261560.5	+	5	855	c.674G>T	c.(673-675)aGa>aTa	p.R225I		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						CAACATAAAAGAATTCATATT	0.328000													16	32					0.000308642	0.00031825	1	1	0
NEURL1	9148	broad.mit.edu	37	10	105350119	105350119	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:105350119G>A	ENST00000369780.4	+	6	2124	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	NEURL_ENST00000369777.2_Missense_Mutation_p.R555H|SH3PXD2A_ENST00000427662.2_Intron	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		572					nervous system development	perinuclear region of cytoplasm	zinc ion binding	p.R572H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AAGACCTACCGCAGCTCCTAG	0.637000													22	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428913	179428913	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179428913G>A	ENST00000589042.1	-	326	82170	c.81946C>T	c.(81946-81948)Ctt>Ttt	p.L27316F	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L18251F|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L18443F|TTN_ENST00000359218.5_Missense_Mutation_p.L18376F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L24748F|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L25675F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25675	Fibronectin type-III 99.						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)			GTTTCTTCAAGTTCTTTTCCA	0.383000													77	119					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170729	113170729	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:113170729G>A	ENST00000401783.2	-	38	7487	c.7151C>T	c.(7150-7152)cCt>cTt	p.P2384L	SVEP1_ENST00000297826.5_Missense_Mutation_p.P310L|SVEP1_ENST00000374469.1_Missense_Mutation_p.P2361L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2384	Sushi 17.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATTAGGGGAGGTGGGGTACA	0.458000													33	36					0	0	1	0	0
RIOK1	83732	broad.mit.edu	37	6	7401214	7401214	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:7401214G>T	ENST00000379834.2	+	6	1011	c.504G>T	c.(502-504)atG>atT	p.M168I		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	168							ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GAACAAGAATGATTTTATTCA	0.333000													11	30					5.50884e-06	5.83488e-06	1	1	0
ZNF300P1	134466	broad.mit.edu	37	5	150322125	150322125	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:150322125G>A	ENST00000520773.1	-	0	1359																											TTGAGACCAGGTGGCTATAGA	0.517000													17	41					0	0	1	0	0
PIANP	196500	broad.mit.edu	37	12	6806910	6806910	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:6806910C>T	ENST00000534837.1	-	3	295	c.66G>A	c.(64-66)ttG>ttA	p.L22L	PIANP_ENST00000540656.1_Silent_p.L22L|PIANP_ENST00000320591.5_Silent_p.L22L	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		GGAGGGGCAGCAACAGCAGTG	0.697000													3	2					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72244143	72244143	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:72244143G>A	ENST00000582365.1	+	7	818	c.752G>A	c.(751-753)gGa>gAa	p.G251E	CNDP1_ENST00000358821.3_Missense_Mutation_p.G294E			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	294					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.G294E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTGGTCCCTGGAATCTATGAT	0.453000													34	40					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109672112	109672112	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:109672112A>C	ENST00000356711.2	+	23	2709	c.2583A>C	c.(2581-2583)tcA>tcC	p.S861S	MYO16_ENST00000357550.2_Silent_p.S861S|MYO16_ENST00000251041.5_Silent_p.S861S|MYO16_ENST00000457511.2_Silent_p.S373S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	861	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			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)			TGATTTGGTCAGTGGAATCAA	0.398000													23	27					0	0	1	0	0
FAM127A	8933	broad.mit.edu	37	X	134166537	134166537	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:134166537G>A	ENST00000257013.7	+	1	205	c.124G>A	c.(124-126)Gag>Aag	p.E42K	FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	42										endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CCGACTCCCGGAGTTCATCGT	0.632000													80	8					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046274	9046274	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9046274A>C	ENST00000397910.4	-	5	35560	c.35357T>G	c.(35356-35358)tTt>tGt	p.F11786C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11788	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						TGAAGCAGGAAATGTTTTACT	0.478000													11	28					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133070891	133070891	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:133070891C>T	ENST00000326499.6	-	6	1438	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	VNN2_ENST00000525270.1_Silent_p.E385E|VNN2_ENST00000525289.1_Silent_p.E217E	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	438					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GAAAAACATACTCTGTTCCAA	0.368000													25	26					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108861081	108861081	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:108861081G>A	ENST00000356922.4	-	2	2808	c.2536C>T	c.(2536-2538)Cgg>Tgg	p.R846W	LIG4_ENST00000442234.1_Missense_Mutation_p.R846W|LIG4_ENST00000405925.1_Missense_Mutation_p.R846W	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	846	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCATGAAACCGAAGCTCCAAG	0.408000								Non-homologous end-joining					38	32					0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46135371	46135371	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:46135371C>A	ENST00000374366.3	-	7	853	c.388G>T	c.(388-390)Gaa>Taa	p.E130*	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Nonsense_Mutation_p.E204*	NM_001282905.1|NM_001282906.1	NP_001269834.1|NP_001269835.1	Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	204							zinc ion binding										GGCTCAGTTTCTTCATCCTCA	0.348000													51	68					1.67211e-32	2.30661e-32	1	1	0
ATP1A4	480	broad.mit.edu	37	1	160151776	160151776	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:160151776C>T	ENST00000368081.4	+	20	3395	c.2924C>T	c.(2923-2925)tCc>tTc	p.S975F	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Missense_Mutation_p.S111F	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	975					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCATTTCTGTCCTACACTCCA	0.527000													59	63					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10547728	10547728	+	Silent	SNP	C	C	T	rs141874357		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:10547728C>T	ENST00000583535.1	-	14	1437	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	MYH3_ENST00000226209.7_Silent_p.T450T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	450	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGGAAGCTTCGTATCCAGTT	0.383000													42	67					0	0	1	0	0
MNAT1	4331	broad.mit.edu	37	14	61278769	61278769	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:61278769G>T	ENST00000261245.4	+	5	586	c.485G>T	c.(484-486)aGa>aTa	p.R162I	MNAT1_ENST00000539616.2_Missense_Mutation_p.R162I	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	162					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GAACAAAGAAGATTATTTATA	0.323000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					45	75					6.21074e-16	7.57245e-16	1	1	0
CUBN	8029	broad.mit.edu	37	10	17171181	17171181	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:17171181C>A	ENST00000377833.4	-	2	256	c.191G>T	c.(190-192)aGa>aTa	p.R64I	CUBN_ENST00000377823.1_Missense_Mutation_p.R64I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	64					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGATCCGGTTCTAAACTCAAT	0.363000													18	22					2.37509e-13	2.78749e-13	1	1	0
MBTPS2	51360	broad.mit.edu	37	X	21896614	21896614	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:21896614G>T	ENST00000379484.5	+	9	1164		c.e9-1			NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2						cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						TTTATTTATAGCATACATGTC	0.308000													43	3					2.95478e-19	3.74562e-19	1	1	0
TRPC4	7223	broad.mit.edu	37	13	38357147	38357147	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:38357147G>A	ENST00000379705.3	-	2	1181	c.324C>T	c.(322-324)gtC>gtT	p.V108V	TRPC4_ENST00000379673.2_Silent_p.V108V|TRPC4_ENST00000355779.2_Silent_p.V108V|TRPC4_ENST00000426868.2_Silent_p.V108V|TRPC4_ENST00000379681.3_Silent_p.V108V|TRPC4_ENST00000358477.2_Silent_p.V108V|TRPC4_ENST00000447043.1_Silent_p.V108V|TRPC4_ENST00000379679.1_Silent_p.V108V|TRPC4_ENST00000338947.5_Silent_p.V108V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	108	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAGCTCCGACGACTTCTTTTC	0.363000													20	41					0	0	1	0	0
MAP2K5	5607	broad.mit.edu	37	15	67893072	67893072	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:67893072G>T	ENST00000178640.5	+	8	1157	c.530G>T	c.(529-531)gGa>gTa	p.G177V	MAP2K5_ENST00000354498.5_Missense_Mutation_p.G141V|MAP2K5_ENST00000395476.2_Missense_Mutation_p.G177V|MAP2K5_ENST00000560591.1_3'UTR	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	177	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						CATGGCAACGGAGGCACAGTC	0.388000													22	34					8.24728e-16	1.0044e-15	1	1	0
RFTN2	130132	broad.mit.edu	37	2	198508985	198508985	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:198508985G>A	ENST00000295049.4	-	3	871	c.335C>T	c.(334-336)tCg>tTg	p.S112L		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GGGTGCTGCCGAATTCTTTGG	0.453000													27	1					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37070285	37070285	+	Missense_Mutation	SNP	C	C	T	rs147939838	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:37070285C>T	ENST00000231790.2	+	13	1636	c.1420C>T	c.(1420-1422)Cgg>Tgg	p.R474W	MLH1_ENST00000536378.1_Missense_Mutation_p.R233W|MLH1_ENST00000458205.2_Missense_Mutation_p.R233W|MLH1_ENST00000455445.2_Missense_Mutation_p.R233W|MLH1_ENST00000539477.1_Missense_Mutation_p.R233W|MLH1_ENST00000435176.1_Missense_Mutation_p.R376W	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	474	Interaction with EXO1.		R -> Q (in HNPCC2; has no effect on ex vivo splicing assay; uncertain pathogenicity).|R -> W (associated with HNPCC2; has no effect on ex vivo splicing assay).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AAAGAGACATCGGGAAGATTC	0.408000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				77	94					0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8588877	8588877	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:8588877G>A	ENST00000382487.4	+	3	1296	c.879G>A	c.(877-879)acG>acA	p.T293T	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	293					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T293T(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						ACCCGTTCACGTACTCTCTGC	0.667000													32	39					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118584609	118584609	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:118584609C>A	ENST00000336338.5	-	21	2936	c.2871G>T	c.(2869-2871)aaG>aaT	p.K957N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	957						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTCTGCTTTCTTTTCTTCCC	0.373000													96	111					4.85946e-68	6.98342e-68	1	1	0
ZNF93	81931	broad.mit.edu	37	19	20044176	20044176	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:20044176A>G	ENST00000343769.5	+	4	440	c.412A>G	c.(412-414)Aca>Gca	p.T138A	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	138						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						CCAGTGTAGTACAACTACCCA	0.313000													36	34					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39512364	39512364	+	Nonsense_Mutation	SNP	G	G	A	rs149018745		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:39512364G>A	ENST00000287152.7	-	12	1487	c.1393C>T	c.(1393-1395)Cga>Tga	p.R465*	KIF6_ENST00000373213.4_Nonsense_Mutation_p.R304*|KIF6_ENST00000373216.3_Nonsense_Mutation_p.R465*|KIF6_ENST00000373215.3_Nonsense_Mutation_p.R465*|KIF6_ENST00000538893.1_Nonsense_Mutation_p.R465*	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	465					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGAATATCTCGTAGCTTTCTA	0.358000													9	16					0	0	1	0	0
CLNK	116449	broad.mit.edu	37	4	10515119	10515119	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:10515119C>T	ENST00000226951.6	-	16	1114	c.875G>A	c.(874-876)aGa>aAa	p.R292K	CLNK_ENST00000515667.1_Missense_Mutation_p.R30K	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	292					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GAAAGGTGGTCTCCAGCTTGT	0.483000													6	11					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123780127	123780127	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:123780127A>C	ENST00000223642.1	-	13	1539	c.1510T>G	c.(1510-1512)Tta>Gta	p.L504V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	504					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CCCTTGGATAAAATCTAAAAA	0.358000													20	18					0	0	1	0	0
RABL3	285282	broad.mit.edu	37	3	120424908	120424908	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:120424908G>A	ENST00000273375.3	-	4	351	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	RABL3_ENST00000483733.1_Missense_Mutation_p.R108C|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	108	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding	p.R108G(1)|p.R108C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		AATGACCAACGACGCAAGTTT	0.383000													23	34					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161317999	161317999	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:161317999C>A	ENST00000428797.2	+	9	1154	c.799C>A	c.(799-801)Ctc>Atc	p.L267I	GABRA1_ENST00000023897.6_Missense_Mutation_p.L267I|GABRA1_ENST00000393943.4_Missense_Mutation_p.L267I|GABRA1_ENST00000444819.1_Missense_Mutation_p.L267I|GABRA1_ENST00000437025.2_Missense_Mutation_p.L267I|GABRA1_ENST00000420560.1_Missense_Mutation_p.L267I	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	267					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GACAGTGATTCTCTCACAAGT	0.418000													27	35					4.7796e-09	5.296e-09	1	1	0
SLITRK1	114798	broad.mit.edu	37	13	84454169	84454169	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:84454169C>T	ENST00000377084.2	-	1	2359	c.1474G>A	c.(1474-1476)Gct>Act	p.A492T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	492						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGACCCCAGCGAACACGTCC	0.537000													27	27					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38173456	38173456	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:38173456C>T	ENST00000317025.8	-	10	2477	c.1960G>A	c.(1960-1962)Gat>Aat	p.D654N	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.D654N|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.D654N	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	654					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CCTCTAGAATCGGAGTCAGAT	0.418000			T	NUP98	AML								18	88					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130764701	130764701	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:130764701G>A	ENST00000509018.1	-	27	4879	c.4674C>T	c.(4672-4674)ctC>ctT	p.L1558L	RAPGEF6_ENST00000507093.1_Intron|CTC-432M15.3_ENST00000514667.1_Silent_p.L1608L|RAPGEF6_ENST00000296859.6_Silent_p.L1566L|RAPGEF6_ENST00000307984.5_Intron	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1558					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CACAGGCCACGAGGTTGCTAC	0.478000													45	55					0	0	1	0	0
CSE1L	1434	broad.mit.edu	37	20	47706078	47706078	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:47706078T>G	ENST00000262982.2	+	19	2099	c.1976T>G	c.(1975-1977)tTt>tGt	p.F659C	CSE1L_ENST00000542325.1_Missense_Mutation_p.F442C|CSE1L_ENST00000396192.3_Missense_Mutation_p.F603C	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	659					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TCAACAGAATTTATTCCATAC	0.413000													25	29					0	0	1	0	0
C11orf31	280636	broad.mit.edu	37	11	57509360	57509360	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:57509360A>C	ENST00000388857.4	+	2	226	c.202A>C	c.(202-204)Aag>Cag	p.K68Q	C11orf31_ENST00000534355.1_Missense_Mutation_p.K68Q|TMX2-CTNND1_ENST00000528395.1_Intron			Q8IZQ5	SELH_HUMAN	chromosome 11 open reading frame 31	68					cell redox homeostasis		selenium binding										GCTTCCAGTAAAGGTGAACCC	0.677000													6	2					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098765	11098765	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:11098765C>A	ENST00000470054.1	-	0	160									B melanoma antigen family, member 2															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)		actcctaccgctcaggccgcc	0.622000													13	261					1.99824e-07	2.1695e-07	1	1	0
CYP4B1	1580	broad.mit.edu	37	1	47279612	47279612	+	Missense_Mutation	SNP	G	G	A	rs139750942		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:47279612G>A	ENST00000271153.4	+	6	685	c.649G>A	c.(649-651)Gat>Aat	p.D217N	CYP4B1_ENST00000371919.4_Missense_Mutation_p.D203N|CYP4B1_ENST00000452782.2_Missense_Mutation_p.D55N|CYP4B1_ENST00000371923.4_Missense_Mutation_p.D218N			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	217					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGCAGTCAGCGATCTCACTCT	0.567000													68	82					0	0	1	0	0
WFDC2	10406	broad.mit.edu	37	20	44098501	44098501	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:44098501G>T	ENST00000372676.3	+	1	155		c.e1+1		WFDC2_ENST00000339946.3_Splice_Site|AL031663.1_ENST00000599747.1_Intron|WFDC2_ENST00000217425.5_Splice_Site	NM_006103.3	NP_006094.3	Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2						proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CTAGTCTCAGGTGAGTGGGGC	0.711000													6	8					0.00198382	0.00202405	1	1	0
CNOT10	25904	broad.mit.edu	37	3	32758677	32758677	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:32758677C>A	ENST00000328834.5	+	7	1008	c.692C>A	c.(691-693)tCt>tAt	p.S231Y	CNOT10_ENST00000331889.6_Missense_Mutation_p.S231Y|CNOT10_ENST00000454516.2_Missense_Mutation_p.S291Y|CNOT10_ENST00000538368.1_Missense_Mutation_p.S3Y|CNOT10_ENST00000463697.1_3'UTR	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	231					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CAAATGAAGTCTCTGAAAGCA	0.313000													23	27					7.87624e-14	9.31353e-14	1	1	0
C10orf113	387638	broad.mit.edu	37	10	21414799	21414799	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:21414799C>A	ENST00000534331.1	-	2	471	c.421G>T	c.(421-423)Gaa>Taa	p.E141*	C10orf113_ENST00000377118.4_Nonsense_Mutation_p.E131*|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000529198.1_3'UTR	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	141										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTGAACTTTTCTTTTATGCCC	0.393000													68	78					1.43987e-31	1.98112e-31	1	1	0
AP1B1	162	broad.mit.edu	37	22	29735105	29735105	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:29735105G>A	ENST00000357586.2	-	16	2223	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	AP1B1_ENST00000356015.2_Silent_p.F672F|AP1B1_ENST00000317368.7_Silent_p.F672F|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000405198.1_Silent_p.F679F|AP1B1_ENST00000415447.1_Silent_p.F672F|AP1B1_ENST00000432560.2_Silent_p.F672F|AP1B1_ENST00000402502.1_Silent_p.F672F	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	679	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAGGTGCCACGAAGTTGGTGC	0.587000													53	62					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566580	4566580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:4566580G>T	ENST00000360213.1	+	1	160	c.160G>T	c.(160-162)Gaa>Taa	p.E54*		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTAAAGATAGAACGCAGCCT	0.527000													20	30					4.96729e-08	5.42951e-08	1	1	0
NT5DC1	221294	broad.mit.edu	37	6	116544254	116544254	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:116544254C>A	ENST00000319550.4	+	8	844	c.762C>A	c.(760-762)ttC>ttA	p.F254L		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	254							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AGCCTGGTTTCTTCTCCCACT	0.358000													44	54					2.01807e-28	2.7455e-28	1	1	0
CHRNA1	1134	broad.mit.edu	37	2	175618307	175618307	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:175618307G>T	ENST00000348749.5	-	6	779	c.702C>A	c.(700-702)ttC>ttA	p.F234L	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Missense_Mutation_p.F259L|CHRNA1_ENST00000409323.1_Missense_Mutation_p.F234L|CHRNA1_ENST00000409219.1_Missense_Mutation_p.F234L|CHRNA1_ENST00000409542.1_Missense_Mutation_p.F152L	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	259					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CGTTGACGATGAAGTAGAGGG	0.587000													74	66					2.49387e-53	3.56276e-53	1	1	0
SARNP	84324	broad.mit.edu	37	12	56184362	56184362	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:56184362T>C	ENST00000444631.2	-	7	394	c.241A>G	c.(241-243)Aac>Gac	p.N81D	RP11-762I7.5_ENST00000546837.1_Silent_p.*453*|SARNP_ENST00000336133.3_Missense_Mutation_p.N141D|SARNP_ENST00000552080.1_Missense_Mutation_p.N141D					SAP domain containing ribonucleoprotein											breast(1)|endometrium(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						ATAGGTTTGTTATCAGATGAC	0.308000													4	9					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35720448	35720448	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:35720448T>C	ENST00000314888.9	-	12	1618	c.1265A>G	c.(1264-1266)gAc>gGc	p.D422G	TLN1_ENST00000540444.1_Missense_Mutation_p.D422G	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	422	Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGACACTGAGTCCTCCAGCAT	0.493000													133	137					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54607036	54607036	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:54607036C>T	ENST00000371330.1	-	3	1345	c.498G>A	c.(496-498)ccG>ccA	p.P166P	RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	166	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CCATGCTGTTCGGGTAGTTGT	0.607000													21	22					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135742027	135742027	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:135742027C>A	ENST00000334546.2	+	1	451	c.116C>A	c.(115-117)tCa>tAa	p.S39*	PPP2R3A_ENST00000264977.3_Intron|PPP2R3A_ENST00000490467.1_Intron	NM_181897.2	NP_871626.1	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	0					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CGGCTGAAGTCATTTCAGCAG	0.393000													36	44					3.76114e-14	4.46431e-14	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124303702	124303702	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:124303702G>A	ENST00000409039.3	+	22	3576	c.3551G>A	c.(3550-3552)cGa>cAa	p.R1184Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1184	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1184Q(1)		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)		CAGCTTACTCGAGGCGAAATA	0.378000													12	13					0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101777890	101777890	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:101777890T>C	ENST00000334289.3	-	3	780	c.185A>G	c.(184-186)gAg>gGg	p.E62G		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	62					signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		ACATGATTCCTCACAGTCTTC	0.264000													5	12					0	0	1	0	0
DNAAF2	55172	broad.mit.edu	37	14	50101381	50101381	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:50101381T>G	ENST00000298292.8	-	1	567	c.487A>C	c.(487-489)Atg>Ctg	p.M163L	DNAAF2_ENST00000406043.3_Missense_Mutation_p.M163L	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	163					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						GCGTCCAGCATCTGGCGGAAG	0.667000													26	32					0	0	1	0	0
HERC4	26091	broad.mit.edu	37	10	69785433	69785433	+	Splice_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:69785433C>A	ENST00000395198.3	-	8	1025	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	HERC4_ENST00000412272.2_Splice_Site_p.E260*|HERC4_ENST00000277817.6_Splice_Site_p.E150*|HERC4_ENST00000373700.4_Splice_Site_p.E260*|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	260					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ACTCCACCTTCCTAAAAAAAG	0.348000													45	34					1.7489e-18	2.19819e-18	1	1	0
MRGPRD	116512	broad.mit.edu	37	11	68748293	68748293	+	Nonsense_Mutation	SNP	G	G	A	rs140992386		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:68748293G>A	ENST00000309106.3	-	1	162	c.163C>T	c.(163-165)Cga>Tga	p.R55*		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	55						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGTGCATTCGAAAGCCCAGC	0.597000													25	42					0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5204861	5204861	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:5204861G>A	ENST00000334314.3	-	2	292	c.216C>T	c.(214-216)atC>atT	p.I72I						aldo-keto reductase family 1, member C-like 1											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TACCATCAGCGATCTTCTCCC	0.443000													80	81					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38945914	38945914	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:38945914A>C	ENST00000355481.4	+	14	1611	c.1480A>C	c.(1480-1482)Aat>Cat	p.N494H	RYR1_ENST00000359596.3_Missense_Mutation_p.N494H|RYR1_ENST00000360985.3_Missense_Mutation_p.N494H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	494					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	AGACCGCCTAAATGTCTACAC	0.507000													47	63					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20269276	20269276	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:20269276G>A	ENST00000245957.5	+	23	2896	c.2820G>A	c.(2818-2820)aaG>aaA	p.K940K	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	940								p.K940N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCTGTGAGAAGAATGTGGATT	0.398000													88	108					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75056799	75056799	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:75056799C>T	ENST00000310715.3	-	16	1975		c.e16+1		TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Splice_Site|TTC18_ENST00000394865.1_Splice_Site|TTC18_ENST00000401621.2_Splice_Site	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18								binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTGACACTTACCTGGTTTAGG	0.373000													24	30					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215955512	215955512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:215955512G>A	ENST00000366943.2	-	54	10998	c.10612C>T	c.(10612-10614)Cga>Tga	p.R3538*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.R3538*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3538	Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTCCATTTCGAAGAAGGATG	0.343000										HNSCC(13;0.011)			38	34					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155749991	155749991	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:155749991G>A	ENST00000159060.2	-	9	1184	c.1082C>T	c.(1081-1083)gCa>gTa	p.A361V		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	361	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CAGTAGCGCTGCTGTCCAGTC	0.592000													45	45					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45003754	45003754	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:45003754C>T	ENST00000258787.7	-	20	2775	c.2639G>A	c.(2638-2640)cGc>cAc	p.R880H		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	880						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTTGTGGAAGCGGTTCACCTG	0.677000													5	7					0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228113047	228113047	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:228113047G>A	ENST00000272164.5	-	2	279	c.269C>T	c.(268-270)gCg>gTg	p.A90V		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	90					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GCACTCGAGCGCACTCATGCT	0.692000													11	16					0	0	1	0	0
GMCL1	64395	broad.mit.edu	37	2	70088446	70088446	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:70088446C>T	ENST00000282570.3	+	10	1360	c.1109C>T	c.(1108-1110)gCt>gTt	p.A370V		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	370					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						CAGTGGTTTGCTATGCTGCGG	0.303000													24	33					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139144875	139144875	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:139144875C>T	ENST00000395297.1	-	20	4352	c.4182G>A	c.(4180-4182)gaG>gaA	p.E1394E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1394										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGAAAAACTTCTCCAGGAAGA	0.527000										HNSCC(54;0.14)			103	129					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77087652	77087652	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:77087652T>C	ENST00000563290.1	-	8	836	c.741A>G	c.(739-741)ccA>ccG	p.P247P	SCAPER_ENST00000324767.7_Silent_p.P247P|SCAPER_ENST00000538941.2_5'UTR|SCAPER_ENST00000562890.1_5'UTR			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	246						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GCACTGTCATTGGTGGGCAAG	0.453000													48	64					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100663439	100663439	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:100663439C>T	ENST00000306151.4	+	1	87	c.23C>T	c.(22-24)gCg>gTg	p.A8V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	8						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGGACCATGGCGCTGTGTCTG	0.622000													16	25					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56249644	56249644	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:56249644G>C	ENST00000332836.2	-	1	124	c.97C>G	c.(97-99)Cct>Gct	p.P33A		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	33	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTCTCCAAAGGTTGTTTGAGG	0.433000													125	147					0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61649119	61649119	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:61649119T>G	ENST00000381103.2	+	7	900	c.415T>G	c.(415-417)Tgt>Ggt	p.C139G	KIF2A_ENST00000401507.3_Missense_Mutation_p.C159G|KIF2A_ENST00000407818.3_Missense_Mutation_p.C159G|KIF2A_ENST00000506857.1_Missense_Mutation_p.C113G|KIF2A_ENST00000509663.2_Intron	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	159	Globular (Potential).				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		AAAATCTAATTGTGTGAAAGA	0.313000													7	7					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544572	186544572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:186544572G>A	ENST00000431808.1	-	14	2562	c.1999C>T	c.(1999-2001)Cga>Tga	p.R667*	SORBS2_ENST00000418609.1_Nonsense_Mutation_p.R571*|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Nonsense_Mutation_p.R767*|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Nonsense_Mutation_p.R667*			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	667						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTGGTAAATCGAGTGTAGGAG	0.532000													45	78					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617649	77617649	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:77617649G>T	ENST00000521891.2	+	2	1774	c.1326G>T	c.(1324-1326)gaG>gaT	p.E442D	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E442D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E442D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E442D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	442						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E442D(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGACCAAGAGAACAACTGTG	0.493000										HNSCC(33;0.089)			15	24					3.27435e-08	3.58418e-08	1	1	0
LRBA	987	broad.mit.edu	37	4	151412123	151412123	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:151412123G>T	ENST00000535741.1	-	41	6868	c.6395C>A	c.(6394-6396)tCt>tAt	p.S2132Y	LRBA_ENST00000510413.1_Missense_Mutation_p.S2132Y|LRBA_ENST00000357115.3_Missense_Mutation_p.S2143Y|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Missense_Mutation_p.S2132Y			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2143						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATAACGACGAGAAAAGATTGA	0.383000													28	39					1.75199e-13	2.05755e-13	1	1	0
TMEM132A	54972	broad.mit.edu	37	11	60694805	60694805	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:60694805G>A	ENST00000005286.4	+	2	383	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	TMEM132A_ENST00000453848.2_Missense_Mutation_p.R77Q	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	77						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTGAGCTCCCGATCTGAGACC	0.642000													51	82					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7189781	7189781	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:7189781G>T	ENST00000317370.8	+	11	1631	c.1363G>T	c.(1363-1365)Gtc>Ttc	p.V455F		NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	455					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						TCTATTTGCGGTCCTCCTGCT	0.567000													200	210					3.92859e-95	5.66401e-95	1	1	0
BHLHE22	27319	broad.mit.edu	37	8	65494217	65494217	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:65494217G>A	ENST00000321870.1	+	1	1404	c.870G>A	c.(868-870)aaG>aaA	p.K290K	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	290	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						TGCTCGCCAAGAACTACATCC	0.667000													18	19					0	0	1	0	0
NDE1	54820	broad.mit.edu	37	16	15771787	15771787	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:15771787G>A	ENST00000396355.1	+	5	1193	c.367G>A	c.(367-369)Gac>Aac	p.D123N	NDE1_ENST00000396354.1_Missense_Mutation_p.D123N|NDE1_ENST00000396353.2_Missense_Mutation_p.D123N|NDE1_ENST00000342673.5_Missense_Mutation_p.D123N	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	123	Interaction with PAFAH1B1 (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AGCAAATGACGACCTGGAAAG	0.542000													44	47					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51253543	51253543	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:51253543G>T	ENST00000404971.1	-	3	2176	c.837C>A	c.(835-837)taC>taA	p.Y279*	NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000405581.1_Intron	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	258					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTATACAACAGTATTTTCCTT	0.373000													6	5					0.0215528	0.0217485	1	1	0
CDH5	1003	broad.mit.edu	37	16	66420777	66420777	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:66420777C>A	ENST00000341529.3	+	3	424	c.276C>A	c.(274-276)gtC>gtA	p.V92V	CDH5_ENST00000563425.2_Silent_p.V92V	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	92	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TGGGCAAGGTCTTCCGGGTCG	0.522000													19	33					2.94398e-08	3.22984e-08	1	1	0
C1orf65	164127	broad.mit.edu	37	1	223568536	223568536	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:223568536G>A	ENST00000366875.3	+	1	1822	c.1719G>A	c.(1717-1719)caG>caA	p.Q573Q		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	573										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AGAGGGTGCAGCACATTTCCC	0.522000													31	46					0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242813970	242813970	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:242813970G>A	ENST00000343216.3	+	2	291	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	88						integral to membrane											GTGAAGATGCGCATCTGGGGC	0.701000													4	0					0	0	1	0	0
PMPCB	9512	broad.mit.edu	37	7	102952678	102952678	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:102952678T>C	ENST00000249269.4	+	13	1468	c.1430T>C	c.(1429-1431)tTt>tCt	p.F477S	PMPCB_ENST00000420236.2_Intron|PMPCB_ENST00000428154.1_3'UTR	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	477					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTACCAGATTTTAAACAGATA	0.338000													30	46					0	0	1	0	0
LOC101926911	101926911	broad.mit.edu	37	15	91573113	91573113	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:91573113C>A	ENST00000557804.1	+	0	243				AC068831.10_ENST00000501381.3_RNA|AC068831.10_ENST00000556904.1_RNA																							TTTTGAAGTTCTAGGACAAGG	0.393000													22	30					2.70639e-06	2.88548e-06	1	1	0
DXO	1797	broad.mit.edu	37	6	31939292	31939292	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:31939292A>G	ENST00000375349.3	-	2	572	c.161T>C	c.(160-162)cTg>cCg	p.L54P	DXO_ENST00000478221.1_Intron|DXO_ENST00000337523.5_Missense_Mutation_p.L54P|DXO_ENST00000375356.3_Missense_Mutation_p.L54P					decapping exoribonuclease	54																	TTGAGCATCCAGGGAGAAGCA	0.607000													56	53					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47753301	47753301	+	Missense_Mutation	SNP	C	C	T	rs141678367	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:47753301C>T	ENST00000360380.3	-	11	1418	c.1055G>A	c.(1054-1056)cGt>cAt	p.R352H	STIL_ENST00000371877.3_Missense_Mutation_p.R352H|STIL_ENST00000396221.2_Missense_Mutation_p.R352H|STIL_ENST00000337817.5_Missense_Mutation_p.R352H|STIL_ENST00000243182.6_Missense_Mutation_p.R352H	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	352					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CAGTTCACAACGGATTGGATT	0.333000													10	21					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36063861	36063861	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:36063861G>A	ENST00000377966.3	+	5	907	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	114	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTGGAGTGTCGACAGGCATGC	0.473000													17	28					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77641954	77641954	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:77641954G>A	ENST00000407578.2	-	71	12483	c.12217C>T	c.(12217-12219)Cgt>Tgt	p.R4073C	MYCBP2_ENST00000544440.2_Missense_Mutation_p.R4035C|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R4035C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4035					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGGCCAGACGACTAGGGGTT	0.403000													51	69					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34451265	34451265	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:34451265G>T	ENST00000374012.3	+	6	880	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Intron			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GAGTCCACAAGAAAACTTGAG	0.443000													81	97					8.2577e-42	1.1635e-41	1	1	0
CCDC87	55231	broad.mit.edu	37	11	66360094	66360094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:66360094G>T	ENST00000333861.3	-	1	460	c.393C>A	c.(391-393)taC>taA	p.Y131*		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	131										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGGTGCAGGTAGCGCAAGA	0.627000											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	60					7.68411e-24	1.01384e-23	1	1	0
HECW1	23072	broad.mit.edu	37	7	43540360	43540360	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:43540360C>T	ENST00000395891.2	+	20	4105	c.3500C>T	c.(3499-3501)gCg>gTg	p.A1167V	HECW1_ENST00000453890.1_Missense_Mutation_p.A1133V	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCCTGTGATGCGGATCTGGTC	0.498000													39	66					0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175710015	175710015	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:175710015T>C	ENST00000274093.3	-	2	653	c.151A>G	c.(151-153)Atg>Gtg	p.M51V	GLRA3_ENST00000340217.5_Missense_Mutation_p.M51V	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	51					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GTCCTGCCCATTAATTTATCC	0.343000													22	25					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46130079	46130079	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:46130079A>C	ENST00000536630.1	-	11	1204	c.1066T>G	c.(1066-1068)Ttg>Gtg	p.L356V	EML2_ENST00000589876.1_Missense_Mutation_p.L209V|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000245925.3_Missense_Mutation_p.L209V|EML2_ENST00000587152.1_Missense_Mutation_p.L410V	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	209					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GTGGCCACCAATACAGCCTCA	0.577000													21	25					0	0	1	0	0
MRAS	22808	broad.mit.edu	37	3	138091900	138091900	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:138091900C>A	ENST00000289104.4	+	2	822	c.175C>A	c.(175-177)Caa>Aaa	p.Q59K	MRAS_ENST00000474559.1_Missense_Mutation_p.Q59K|MRAS_ENST00000423968.2_Missense_Mutation_p.Q59K|MRAS_ENST00000464896.1_Intron	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	59					actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						GATTGACAATCAATGGGCCAT	0.507000													75	84					1.07363e-35	1.49495e-35	1	1	0
EXOC5	10640	broad.mit.edu	37	14	57711056	57711056	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:57711056C>A	ENST00000413566.2	-	4	651	c.292G>T	c.(292-294)Gaa>Taa	p.E98*	EXOC5_ENST00000556911.1_5'UTR|EXOC5_ENST00000340918.7_Intron	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	98					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TCATCTAGTTCTTGGAAATGT	0.413000													67	55					4.37588e-27	5.9065e-27	1	1	0
ABCA9	10350	broad.mit.edu	37	17	67039746	67039746	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:67039746G>T	ENST00000340001.4	-	6	895	c.684C>A	c.(682-684)ttC>ttA	p.F228L	ABCA9_ENST00000370732.2_Missense_Mutation_p.F228L|ABCA9_ENST00000453985.2_Missense_Mutation_p.F228L|ABCA9_ENST00000495634.1_Missense_Mutation_p.F228L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	228					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TAATGCAAAAGAAAATGAAAA	0.338000													23	29					3.5997e-14	4.2784e-14	1	1	0
FGF5	2250	broad.mit.edu	37	4	81207815	81207815	+	Missense_Mutation	SNP	C	C	T	rs137903755		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:81207815C>T	ENST00000312465.7	+	3	1022	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	266					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						ACTCAAGTTTCGCTTTGGATA	0.418000													24	45					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52163050	52163050	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:52163050C>T	ENST00000354534.6	+	17	3481	c.3303C>T	c.(3301-3303)ggC>ggT	p.G1101G	SCN8A_ENST00000545061.1_Silent_p.G1101G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TTGCTGTGGGCGAGTCTGACT	0.517000													25	37					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93806226	93806226	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:93806226G>T	ENST00000315765.9	+	7	1276	c.1268G>T	c.(1267-1269)aGa>aTa	p.R423I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	423	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GGGGACAACAGAATAGGAGGA	0.373000													13	17					9.31168e-06	9.8413e-06	1	1	0
TPD52L2	7165	broad.mit.edu	37	20	62505046	62505046	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:62505046G>A	ENST00000217121.5	+	3	263	c.191G>A	c.(190-192)cGc>cAc	p.R64H	TPD52L2_ENST00000348257.5_Missense_Mutation_p.R64H|TPD52L2_ENST00000351424.4_Missense_Mutation_p.R64H|TPD52L2_ENST00000358548.4_Missense_Mutation_p.R64H|TPD52L2_ENST00000346249.4_Missense_Mutation_p.R64H|TPD52L2_ENST00000369927.4_Missense_Mutation_p.R41H|TPD52L2_ENST00000352482.4_Missense_Mutation_p.R64H	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	64					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					GTCACTCTGCGCCAGGTCCTG	0.562000													25	25					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17988864	17988864	+	Missense_Mutation	SNP	G	G	A	rs138250437		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:17988864G>A	ENST00000222248.3	+	7	1278	c.931G>A	c.(931-933)Gac>Aac	p.D311N		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	311					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CACTGACTGCGACCCTCTCCT	0.617000													31	24					0	0	1	0	0
BCL10	8915	broad.mit.edu	37	1	85733583	85733583	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:85733583G>T	ENST00000370580.1	-	3	1166	c.429C>A	c.(427-429)ttC>ttA	p.F143L		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	143					apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		GTTTTTCAGAGAAATTACTCT	0.403000			T	IGH@	MALT								48	83					8.86878e-18	1.10508e-17	1	1	0
MAP9	79884	broad.mit.edu	37	4	156283253	156283253	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:156283253T>A	ENST00000311277.4	-	6	1012	c.749A>T	c.(748-750)cAa>cTa	p.Q250L	AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000594666.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.Q250L	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	250					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TCCAAGAATTTGTTTAAGTGA	0.313000													43	43					0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24436207	24436207	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:24436207C>A	ENST00000383168.4	-	5	1068	c.940G>T	c.(940-942)Gac>Tac	p.D314Y	AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.D292Y|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.D292Y	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	314					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CCAGATTGGTCTTTCCCCTTC	0.478000													87	107					7.28744e-38	1.01951e-37	1	1	0
SHROOM3	57619	broad.mit.edu	37	4	77357243	77357243	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:77357243C>T	ENST00000296043.6	+	1	991	c.38C>T	c.(37-39)gCc>gTc	p.A13V		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	13					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AAGCCTAGTGCCACATTAAAC	0.488000													82	92					0	0	1	0	0
ZFP69B	65243	broad.mit.edu	37	1	40923060	40923060	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:40923060G>T	ENST00000411995.2	+	5	760	c.385G>T	c.(385-387)Gga>Tga	p.G129*	ZFP69B_ENST00000361584.3_Nonsense_Mutation_p.G27*|ZFP69B_ENST00000484445.1_Missense_Mutation_p.R100M	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		GTTGGAGAAAGGAGAAGAACC	0.483000													20	30					2.89027e-11	3.30697e-11	1	1	0
GFI1B	8328	broad.mit.edu	37	9	135865146	135865146	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:135865146C>T	ENST00000339463.3	+	10	1485	c.666C>T	c.(664-666)tgC>tgT	p.C222C	GFI1B_ENST00000534944.1_Silent_p.C176C|GFI1B_ENST00000372123.1_Silent_p.C176C|GFI1B_ENST00000450530.1_Silent_p.C222C|GFI1B_ENST00000372122.1_Silent_p.C222C|GFI1B_ENST00000372124.1_Silent_p.C176C			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	222	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GCTTCGAGTGCCGCATGTGCG	0.677000													14	34					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19375596	19375596	+	Silent	SNP	G	G	A	rs114319770	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:19375596G>A	ENST00000389363.4	-	10	1083	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	337						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GATTGCACACGAAGAAGCAGC	0.632000													37	51					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133900727	133900727	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:133900727A>G	ENST00000220616.4	+	10	2715	c.2675A>G	c.(2674-2676)cAt>cGt	p.H892R	TG_ENST00000377869.1_Missense_Mutation_p.H892R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	892	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTTTGGCACATTTTGATCTT	0.522000													17	25					0	0	1	0	0
ALDH3B1	221	broad.mit.edu	37	11	67790170	67790170	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:67790170G>A	ENST00000539229.1	+	10	1167	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.E315K|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.E351K|ALDH3B1_ENST00000316367.6_Intron	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	353					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	CGAGGCCATCGAGTTCATCAA	0.657000													51	51					0	0	1	0	0
IGLV9-49	28773	broad.mit.edu	37	22	22697762	22697762	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:22697762C>T	ENST00000427632.2	+	0	87																											TTTCCAGGGTCCCTCTCCCAG	0.602000											OREG0026357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	22					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108188918	108188918	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:108188918A>C	ENST00000273353.3	-	15	1641	c.1585T>G	c.(1585-1587)Ttg>Gtg	p.L529V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	529	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CAAGCTTGCAAATCCAGACCA	0.373000													29	36					0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174228119	174228119	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:174228119G>A	ENST00000306721.3	+	4	653	c.550G>A	c.(550-552)Gat>Aat	p.D184N	CDCA7_ENST00000410019.3_Missense_Mutation_p.D63N|CDCA7_ENST00000410101.3_Missense_Mutation_p.D140N|CDCA7_ENST00000347703.3_Missense_Mutation_p.D105N|CDCA7_ENST00000392567.2_Missense_Mutation_p.D105N	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	105	Arg-rich.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TTCCAACTCCGATTCAGAAGA	0.428000													39	38					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101200232	101200232	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:101200232G>A	ENST00000294728.2	+	8	2068	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	VCAM1_ENST00000370115.1_Missense_Mutation_p.R457Q|VCAM1_ENST00000347652.2_Missense_Mutation_p.R564Q|VCAM1_ENST00000370119.4_Missense_Mutation_p.R594Q	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	656	Ig-like C2-type 7.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.R656Q(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TATACCATCCGAAAGGCCCAG	0.393000													35	36					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1955068	1955068	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:1955068G>A	ENST00000382895.3	+	14	2586	c.2155G>A	c.(2155-2157)Gtg>Atg	p.V719M	WHSC1_ENST00000508803.1_Missense_Mutation_p.V719M|WHSC1_ENST00000382891.5_Missense_Mutation_p.V719M|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.V67M|WHSC1_ENST00000382892.2_Missense_Mutation_p.V719M	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	719					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTCATGTTTCGTGTGTAAAGA	0.398000			T	IGH@	MM								52	59					0	0	1	0	0
TOR1B	27348	broad.mit.edu	37	9	132566606	132566606	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:132566606A>C	ENST00000259339.2	+	2	514	c.454A>C	c.(454-456)Aaa>Caa	p.K152Q	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	152					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				GCAGAAGATAAAACTGTACCA	0.493000													52	59					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133861780	133861780	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:133861780G>T	ENST00000285928.2	+	9	1141	c.1072G>T	c.(1072-1074)Gaa>Taa	p.E358*		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	358	LRRCT.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GCGATTAACAGAATTAGATCA	0.328000													20	24					2.4624e-09	2.74096e-09	1	1	0
TTLL5	23093	broad.mit.edu	37	14	76232590	76232590	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:76232590G>T	ENST00000298832.9	+	20	2099	c.1894G>T	c.(1894-1896)Gaa>Taa	p.E632*	TTLL5_ENST00000556893.1_Nonsense_Mutation_p.E183*|TTLL5_ENST00000554510.1_Nonsense_Mutation_p.E141*|TTLL5_ENST00000557636.1_Nonsense_Mutation_p.E646*|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	632					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TACACCCAAAGAAAATTCCAT	0.413000													20	33					2.4624e-09	2.74096e-09	1	1	0
INVS	27130	broad.mit.edu	37	9	102991957	102991957	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:102991957T>G	ENST00000262457.2	+	5	648	c.463T>G	c.(463-465)Tgg>Ggg	p.W155G	INVS_ENST00000262456.2_Missense_Mutation_p.W155G|INVS_ENST00000541287.1_Missense_Mutation_p.W59G|INVS_ENST00000460636.2_3'UTR	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	155					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				AGCTCTGCATTGGAGTGCCTA	0.428000													20	29					0	0	1	0	0
ICMT	23463	broad.mit.edu	37	1	6293587	6293587	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:6293587A>G	ENST00000343813.5	-	3	429	c.401T>C	c.(400-402)gTa>gCa	p.V134A		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	134					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AAGAGCAGCTACTGTATACTC	0.458000													62	73					0	0	1	0	0
KLHL41	10324	broad.mit.edu	37	2	170382100	170382100	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:170382100A>C	ENST00000284669.1	+	6	1792	c.1715A>C	c.(1714-1716)gAa>gCa	p.E572A	RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.E510A|BBS5_ENST00000554017.1_Missense_Mutation_p.E510A	NM_006063.2	NP_006054.2			kelch-like family member 41																		ATCAGGTATGAAGATGATAAA	0.363000													36	41					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125231885	125231885	+	RNA	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:125231885A>C	ENST00000439075.1	-	0	2860					NR_026876.1																						GTAGCTAATAAGTTTCTAATA	0.303000													8	4					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31159788	31159788	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:31159788G>A	ENST00000268281.4	-	5	539	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	PRSS36_ENST00000418068.2_Missense_Mutation_p.P161S|PRSS36_ENST00000569305.1_Missense_Mutation_p.P161S	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	161	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GAGGCGCGGGGCAGGCAGACA	0.741000													4	5					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85561640	85561640	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:85561640C>A	ENST00000294664.6	+	11	1380	c.1200C>A	c.(1198-1200)atC>atA	p.I400I	WDR63_ENST00000326813.8_Silent_p.I361I|WDR63_ENST00000370596.1_Silent_p.I361I	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	400										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CAGATGACATCTTCTGCTTCA	0.363000													37	57					7.53189e-24	9.94001e-24	1	1	0
THSD7B	80731	broad.mit.edu	37	2	137814122	137814122	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:137814122G>T	ENST00000409968.1	+	3	450	c.272G>T	c.(271-273)aGa>aTa	p.R91I	THSD7B_ENST00000272643.3_Missense_Mutation_p.R91I|THSD7B_ENST00000413152.2_Missense_Mutation_p.R60I					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCAAAGGAAAGAAGTTGTTTC	0.537000													17	15					3.52763e-06	3.75281e-06	1	1	0
TCHH	7062	broad.mit.edu	37	1	152081565	152081565	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:152081565G>A	ENST00000368804.1	-	2	4127	c.4128C>T	c.(4126-4128)ttC>ttT	p.F1376F		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1376	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)			CCTCCTCGAGGAATTTTCTCC	0.597000													85	127					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71142248	71142248	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:71142248C>T	ENST00000448642.2	+	15	1765	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	HK1_ENST00000359426.6_Missense_Mutation_p.S424F|HK1_ENST00000298649.3_Missense_Mutation_p.S423F|HK1_ENST00000360289.2_Missense_Mutation_p.S412F|HK1_ENST00000404387.2_Missense_Mutation_p.S428F|HK1_ENST00000494253.1_3'UTR			P19367	HXK1_HUMAN	hexokinase 1	424	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						ATAAGGTATTCCCGGCGTTTC	0.572000													36	58					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112358410	112358410	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:112358410G>A	ENST00000206423.3	-	2	1296	c.343C>T	c.(343-345)Cgt>Tgt	p.R115C	CCDC80_ENST00000439685.2_Missense_Mutation_p.R115C|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	115								p.R115C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ATCATCTCACGCGGAGAGCCC	0.607000													47	72					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106737173	106737173	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:106737173G>A	ENST00000369701.3	+	4	1103	c.876G>A	c.(874-876)cgG>cgA	p.R292R		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	292						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAAGTATCGGCTCACCTTCT	0.448000													29	23					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807986	20807986	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:20807986C>A	ENST00000601440.1	-	4	843	c.697G>T	c.(697-699)Gaa>Taa	p.E233*	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTGCCACATTCTTCACATTTG	0.398000													38	55					4.65686e-17	5.75685e-17	1	1	0
ZNF701	55762	broad.mit.edu	37	19	53085781	53085781	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:53085781G>A	ENST00000540331.1	+	5	892	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.E157K|ZNF701_ENST00000301093.2_Missense_Mutation_p.E223K	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E157K(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATTTCACCCCGAAGGGAAAAT	0.413000													88	87					0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57135251	57135251	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:57135251C>T	ENST00000296318.7	-	11	1208	c.1120G>A	c.(1120-1122)Gtc>Atc	p.V374I	IL17RD_ENST00000320057.5_Missense_Mutation_p.V230I|IL17RD_ENST00000463523.1_Missense_Mutation_p.V230I|IL17RD_ENST00000427856.2_Missense_Mutation_p.V350I	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	374	SEFIR.					Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		AAACACTGGACGACATTCATG	0.537000													23	19					0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144381797	144381797	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:144381797T>C	ENST00000295095.6	+	12	1266	c.1099T>C	c.(1099-1101)Ttc>Ctc	p.F367L		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	367	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAGCCGCTCTTCCCTTACAG	0.493000													25	25					0	0	1	0	0
GABRR2	2570	broad.mit.edu	37	6	89978825	89978825	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:89978825G>A	ENST00000402938.3	-	4	550	c.417C>T	c.(415-417)ttC>ttT	p.F139F	GABRR2_ENST00000602399.1_Silent_p.F164F	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	164					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		AGTGAACAAAGAAGACATCAG	0.512000													4	149					0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14940132	14940132	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:14940132C>A	ENST00000261167.2	-	12	2026	c.1793G>T	c.(1792-1794)aGa>aTa	p.R598I		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	598					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CTCTGACTTTCTTTGGGGAGC	0.488000													90	131					1.92282e-43	2.71568e-43	1	1	0
ZNF432	9668	broad.mit.edu	37	19	52537502	52537502	+	Missense_Mutation	SNP	C	C	T	rs145732054	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:52537502C>T	ENST00000594154.1	-	5	1642	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	ZNF432_ENST00000221315.5_Missense_Mutation_p.R477Q			O94892	ZN432_HUMAN	zinc finger protein 432	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGTATGAGTTCGCTGATGTAC	0.468000													22	31					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96665684	96665684	+	Missense_Mutation	SNP	C	C	A	rs147486921		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:96665684C>A	ENST00000376747.3	-	5	607	c.537G>T	c.(535-537)gaG>gaT	p.E179D	UGGT2_ENST00000376712.4_Missense_Mutation_p.E179D|UGGT2_ENST00000397618.3_Missense_Mutation_p.E179D|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376714.3_Missense_Mutation_p.E179D	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	179					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CTGGTAAGTTCTCTTTGTTTG	0.328000													22	28					3.62473e-10	4.08079e-10	1	1	0
CNTLN	54875	broad.mit.edu	37	9	17226274	17226274	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:17226274G>T	ENST00000380647.3	+	3	607	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	CNTLN_ENST00000262360.5_Nonsense_Mutation_p.E175*|CNTLN_ENST00000380641.4_Nonsense_Mutation_p.E175*|CNTLN_ENST00000425824.1_Nonsense_Mutation_p.E175*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	175						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CAAAATACAAGAATTTGAACA	0.249000													9	13					0.00621372	0.00631556	1	1	0
SP3	6670	broad.mit.edu	37	2	174774973	174774973	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:174774973A>C	ENST00000310015.6	-	7	2572	c.2042T>G	c.(2041-2043)tTt>tGt	p.F681C	SP3_ENST00000418194.2_Missense_Mutation_p.F613C|SP3_ENST00000455789.2_Missense_Mutation_p.F628C	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	681					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGGACAAACAAATTTCTTCTC	0.328000													22	19					0	0	1	0	0
C9orf41	138199	broad.mit.edu	37	9	77614697	77614697	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:77614697C>A	ENST00000376834.3	-	4	832	c.680G>T	c.(679-681)gGa>gTa	p.G227V	C9orf41_ENST00000376837.3_Intron	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	227										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						CCATTCATTTCCTTGACAAGC	0.353000													19	31					1.00905e-13	1.19002e-13	1	1	0
MTTP	4547	broad.mit.edu	37	4	100532314	100532314	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:100532314G>A	ENST00000457717.1	+	14	2040	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	MTTP_ENST00000265517.5_Missense_Mutation_p.R595Q|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.R622Q	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	595	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)	ATTGTCCGTCGAGTTCTGAAG	0.398000													34	30					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237233393	237233393	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:237233393G>A	ENST00000409907.3	-	19	2681	c.2407C>T	c.(2407-2409)Cgt>Tgt	p.R803C	IQCA1_ENST00000309507.5_Missense_Mutation_p.R800C|IQCA1_ENST00000431676.2_Missense_Mutation_p.R762C	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	803							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GCCAAGGCACGTTTTTTACCC	0.383000													6	0					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109691491	109691491	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:109691491G>T	ENST00000277225.5	+	3	5587	c.5298G>T	c.(5296-5298)aaG>aaT	p.K1766N	ZNF462_ENST00000441147.2_Missense_Mutation_p.K611N|ZNF462_ENST00000457913.1_Missense_Mutation_p.K1766N			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1766					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGTGGAGAAGAAAAAGTGCT	0.572000													47	40					4.14194e-30	5.66674e-30	1	1	0
CPNE9	151835	broad.mit.edu	37	3	9754459	9754459	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:9754459C>A	ENST00000383832.3	+	9	682	c.492C>A	c.(490-492)ttC>ttA	p.F164L	CPNE9_ENST00000383831.3_Missense_Mutation_p.F164L	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	164	C2 2.							p.F164L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					AGAAGGACTTCTTTGGGAAAT	0.537000													7	130					0.00198382	0.00202405	1	1	0
SPTBN5	51332	broad.mit.edu	37	15	42182377	42182377	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:42182377C>A	ENST00000320955.6	-	4	638	c.411G>T	c.(409-411)gaG>gaT	p.E137D		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	137	Actin-binding.|CH 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCACGATGTTCTCTGGCCCGA	0.547000													11	9					6.40141e-05	6.67685e-05	1	1	0
ADAMTS19	171019	broad.mit.edu	37	5	129019956	129019956	+	Silent	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:129019956T>A	ENST00000274487.4	+	18	2935	c.2790T>A	c.(2788-2790)acT>acA	p.T930T	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	930	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCGATGCCACTTGTGGAGGAG	0.413000													30	25					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111541855	111541855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:111541855C>A	ENST00000428084.1	-	14	1467	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*	DOCK4_ENST00000437633.1_Nonsense_Mutation_p.E399*|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	399	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTCCTCATTTCACCTATAAGG	0.318000													9	9					0.0581538	0.0585379	1	1	0
KIAA0226L	80183	broad.mit.edu	37	13	46942916	46942916	+	Silent	SNP	C	C	T	rs143042360		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:46942916C>T	ENST00000429979.1	-	4	1174	c.570G>A	c.(568-570)tcG>tcA	p.S190S	KIAA0226L_ENST00000378784.4_Silent_p.S123S|KIAA0226L_ENST00000534925.1_Silent_p.S55S|KIAA0226L_ENST00000378797.2_Silent_p.S190S|KIAA0226L_ENST00000378787.3_Silent_p.S190S|KIAA0226L_ENST00000409879.2_Silent_p.S33S|KIAA0226L_ENST00000389908.3_Silent_p.S190S|KIAA0226L_ENST00000378781.3_Silent_p.S190S|KIAA0226L_ENST00000322896.6_Silent_p.S33S	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	190								p.S190S(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AGAAGGAATTCGAAGAAATGG	0.343000													52	63					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126398489	126398489	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:126398489A>G	ENST00000335110.5	+	12	7262	c.7262A>G	c.(7261-7263)cAg>cGg	p.Q2421R	FAT4_ENST00000394329.3_Splice_Site_p.Q4158R			Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4158	Cadherin 23.				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						ATCCTAGATCAGTATGGCGAT	0.378000													56	56					0	0	1	0	0
CDC7	8317	broad.mit.edu	37	1	91977351	91977351	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:91977351C>A	ENST00000428239.1	+	6	702	c.443C>A	c.(442-444)tCt>tAt	p.S148Y	CDC7_ENST00000234626.6_Missense_Mutation_p.S148Y|CDC7_ENST00000430031.2_Missense_Mutation_p.S120Y	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	148	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S148Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		ATTCTGAATTCTCTTTCCTTT	0.303000													20	23					5.35267e-07	5.77499e-07	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129785560	129785560	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:129785560C>T	ENST00000421865.2	+	50	7167	c.7118C>T	c.(7117-7119)tCg>tTg	p.S2373L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2373	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACATTTTCTTCGAGTGCTCTT	0.423000													67	94					0	0	1	0	0
FANCC	2176	broad.mit.edu	37	9	97879669	97879669	+	Missense_Mutation	SNP	G	G	A	rs140348260		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:97879669G>A	ENST00000289081.3	-	11	1254	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	FANCC_ENST00000375305.1_Missense_Mutation_p.R334W|FANCC_ENST00000464653.1_5'UTR	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	334					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				AGTGCAAACCGCAGCTGCCAC	0.473000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				19	20					0	0	1	0	0
CTD-2192J16.20	0	broad.mit.edu	37	19	12691749	12691749	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:12691749G>A	ENST00000593682.1	-	1	40	c.41C>T	c.(40-42)aCg>aTg	p.T14M	ZNF490_ENST00000311437.6_Silent_p.H380H														p.H380H(1)									GAGTTCTTTCGTGCACTTCAC	0.413000													46	52					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34045776	34045776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:34045776G>A	ENST00000382499.2	-	14	1716	c.1717C>T	c.(1717-1719)Cga>Tga	p.R573*	SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.R534*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.R573*|SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.R529*|SYNJ1_ENST00000322229.7_Nonsense_Mutation_p.R534*	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	534	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.R534*(2)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACACATACTCGAATTTTCTTA	0.388000													19	28					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940187	82940187	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:82940187A>C	ENST00000274341.4	-	4	1620	c.770T>G	c.(769-771)tTc>tGc	p.F257C		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	257					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CTTACCATTGAAATTGGATGT	0.383000													17	40					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73051428	73051428	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:73051428C>T	ENST00000335350.6	+	10	1950	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	UNC5B_ENST00000373192.4_Missense_Mutation_p.P501S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	512					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGGCACATACCCTAGCGATTT	0.672000													29	40					0	0	1	0	0
RNF149	284996	broad.mit.edu	37	2	101924795	101924795	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:101924795C>A	ENST00000295317.3	-	1	363	c.256G>T	c.(256-258)Gac>Tac	p.D86Y		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	86	PA.					integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						CCCTCGAGGTCTCCGCCGGGC	0.771000													12	17					5.50884e-06	5.83488e-06	1	1	0
EIF4A2	1974	broad.mit.edu	37	3	186502795	186502795	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:186502795G>T	ENST00000323963.5	+	4	317	c.253G>T	c.(253-255)Gcc>Tcc	p.A85S	EIF4A2_ENST00000440191.2_Missense_Mutation_p.A86S|EIF4A2_ENST00000356531.5_Intron			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	85	Helicase ATP-binding.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGGCAAGACAGCCACATTTGC	0.443000			T	BCL6	NHL								40	52					5.43694e-19	6.87742e-19	1	1	0
OPTN	10133	broad.mit.edu	37	10	13160939	13160939	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:13160939C>T	ENST00000378748.3	+	8	1040	c.678C>T	c.(676-678)ttC>ttT	p.F226F	OPTN_ENST00000378747.3_Silent_p.F226F|OPTN_ENST00000378764.2_Silent_p.F220F|OPTN_ENST00000482140.1_3'UTR|OPTN_ENST00000378757.2_Silent_p.F226F|OPTN_ENST00000263036.5_Silent_p.F226F|OPTN_ENST00000378752.3_Silent_p.F220F	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	226					cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGAATTACTTCGAACATGAGG	0.438000													48	45					0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197712704	197712704	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:197712704A>C	ENST00000330198.4	+	8	894	c.872A>C	c.(871-873)aAa>aCa	p.K291T	LMLN_ENST00000420910.2_Missense_Mutation_p.K291T|LMLN_ENST00000482695.1_Missense_Mutation_p.K239T|LMLN_ENST00000332636.5_Missense_Mutation_p.K239T	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	291					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TACCATGATAAAGATGGAAAT	0.403000													17	24					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	31144232	31144232	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:31144232T>C	ENST00000543491.1	+	3	3529	c.3529T>C	c.(3529-3531)Ttc>Ctc	p.F1177L				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ACTGTCCACTTTCATGCCTGT	0.547000													5	144					0	0	1	0	0
EVX2	344191	broad.mit.edu	37	2	176947097	176947097	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:176947097C>A	ENST00000308618.4	-	2	644	c.508G>T	c.(508-510)Gga>Tga	p.G170*		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	170						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CCGCTGCCTCCGCTGCCTCCA	0.716000													20	18					1.2644e-06	1.35663e-06	1	1	0
DRD2	1813	broad.mit.edu	37	11	113295338	113295338	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:113295338A>C	ENST00000362072.3	-	2	380	c.36T>G	c.(34-36)gaT>gaG	p.D12E	DRD2_ENST00000544518.1_Missense_Mutation_p.D12E|DRD2_ENST00000346454.3_Missense_Mutation_p.D12E|DRD2_ENST00000538967.1_Missense_Mutation_p.D12E|DRD2_ENST00000542968.1_Missense_Mutation_p.D12E|DRD2_ENST00000355319.2_Missense_Mutation_p.D12E	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	12					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GCCTCTCCAGATCATCATCAT	0.577000													41	39					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832980	130832980	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:130832980T>G	ENST00000357462.5	-	15	2158	c.2065A>C	c.(2065-2067)Aat>Cat	p.N689H	POTEF_ENST00000409914.2_Missense_Mutation_p.N689H|POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000360967.5_3'UTR			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	689						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTTAAAAGATTATCATTCCTT	0.428000													36	25					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067162	62067162	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:62067162T>G	ENST00000404929.1	-	3	988	c.977A>C	c.(976-978)aAa>aCa	p.K326T	FAM161A_ENST00000405894.3_Missense_Mutation_p.K326T	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	326					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGCTATAAATTTAAATGGCTT	0.418000													26	110					0	0	1	0	0
MAZ	4150	broad.mit.edu	37	16	29818106	29818106	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:29818106G>T	ENST00000219782.6	+	1	190	c.84G>T	c.(82-84)atG>atT	p.M28I	MAZ_ENST00000562337.1_Missense_Mutation_p.M28I|MAZ_ENST00000563402.1_Missense_Mutation_p.M28I|MAZ_ENST00000566906.2_Missense_Mutation_p.M28I|MAZ_ENST00000322945.6_Missense_Mutation_p.M28I|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000545521.1_Intron	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	28					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GCGGCCTCATGAACTCCTTCC	0.711000													18	16					6.49762e-13	7.57416e-13	1	1	0
DST	667	broad.mit.edu	37	6	56485116	56485116	+	Missense_Mutation	SNP	C	C	T	rs147516378		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:56485116C>T	ENST00000370765.6	-	23	3823	c.3716G>A	c.(3715-3717)cGc>cAc	p.R1239H	DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	4894					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAACTGATTGCGAAAATTCAG	0.443000													22	46					0	0	1	0	0
FADS1	3992	broad.mit.edu	37	11	61570386	61570386	+	Silent	SNP	C	C	T	rs115713429	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:61570386C>T	ENST00000350997.7	-	11	1573	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	FADS2_ENST00000574708.1_Intron|FADS1_ENST00000460649.1_Silent_p.T92T|FADS1_ENST00000536991.1_Silent_p.T138T|FADS1_ENST00000542506.1_Silent_p.T306T|FADS1_ENST00000433932.1_Silent_p.T306T	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	390					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTCGAGGCATCGTGGGAAAAA	0.567000													33	39					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95719696	95719696	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:95719696C>A	ENST00000480546.1	-	0	1601					NR_002319.2																						TTTGCAAAGTCTCTTCAACTA	0.498000													18	32					1.9806e-07	2.15298e-07	1	1	0
UNC5B	219699	broad.mit.edu	37	10	73056446	73056446	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:73056446C>T	ENST00000335350.6	+	15	2853	c.2437C>T	c.(2437-2439)Cgg>Tgg	p.R813W	UNC5B_ENST00000373192.4_Missense_Mutation_p.R802W	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	813					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GATCTGCGTGCGGCAAGTGGA	0.592000													43	54					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21951326	21951326	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:21951326C>A	ENST00000406877.3	-	3	491	c.212G>T	c.(211-213)aGa>aTa	p.R71I	CDCA7L_ENST00000356195.5_Missense_Mutation_p.R37I|CDCA7L_ENST00000373934.4_Intron|CDCA7L_ENST00000465490.1_Intron	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	71	PSIP1-binding.				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TATAAAAATTCTTCTTAGCTC	0.383000													37	55					1.67305e-13	1.96701e-13	1	1	0
ZNF280A	129025	broad.mit.edu	37	22	22868741	22868741	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:22868741A>G	ENST00000302097.3	-	2	1466	c.1214T>C	c.(1213-1215)gTc>gCc	p.V405A		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATCAGCAAAGACCGACGATCT	0.413000													64	77					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205897036	205897036	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:205897036C>T	ENST00000367135.3	-	9	1208	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	SLC26A9_ENST00000340781.4_Silent_p.S365S|SLC26A9_ENST00000367134.2_Silent_p.S365S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	365						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTACCTGGTTCGAATCCACGT	0.597000													38	71					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66325263	66325263	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:66325263C>T	ENST00000502692.1	+	0	1236				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						AGAGGACTTTCGGGACTACCG	0.602000													13	23					0	0	1	0	0
FANCC	2176	broad.mit.edu	37	9	97912234	97912234	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:97912234G>T	ENST00000289081.3	-	7	911	c.657C>A	c.(655-657)ttC>ttA	p.F219L	FANCC_ENST00000375305.1_Missense_Mutation_p.F219L	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	219					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CAGCCTCAAAGAACTCTGGCT	0.483000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	9					5.18039e-06	5.50011e-06	1	1	0
MACF1	23499	broad.mit.edu	37	1	39920712	39920712	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:39920712T>G	ENST00000564288.1	+	89	21795	c.21018T>G	c.(21016-21018)gaT>gaG	p.D7006E	MACF1_ENST00000567887.1_Missense_Mutation_p.D7043E|MACF1_ENST00000545844.1_Missense_Mutation_p.D4947E|MACF1_ENST00000539005.1_Missense_Mutation_p.D4817E|MACF1_ENST00000361689.2_Missense_Mutation_p.D4947E|MACF1_ENST00000372915.3_Missense_Mutation_p.D6905E|MACF1_ENST00000289893.4_Missense_Mutation_p.D5449E|MACF1_ENST00000317713.7_Missense_Mutation_p.D4947E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6905					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTCAGCGGGATCAGGAGCCAA	0.517000													26	42					0	0	1	0	0
C3orf70	285382	broad.mit.edu	37	3	184800809	184800809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:184800809C>A	ENST00000335012.2	-	2	929	c.739G>T	c.(739-741)Gaa>Taa	p.E247*		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	247								p.E247*(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						ACAGTCGTTTCTATCGTTTCA	0.522000													85	81					8.84886e-50	1.26044e-49	1	1	0
SETD2	29072	broad.mit.edu	37	3	47162776	47162776	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:47162776A>C	ENST00000409792.3	-	3	3392	c.3350T>G	c.(3349-3351)tTt>tGt	p.F1117C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TATACTTTCAAATTTTTCCTC	0.378000			"""N, F, S, Mis"""		clear cell renal carcinoma								4	111					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275130	114275130	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:114275130A>G	ENST00000357077.4	+	38	5409	c.5356A>G	c.(5356-5358)Aag>Gag	p.K1786E	ANK2_ENST00000264366.6_Missense_Mutation_p.K1753E|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1753	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGTCGAAGCAAGTTGCCCAT	0.502000													100	158					0	0	1	0	0
ZNF823	55552	broad.mit.edu	37	19	11833054	11833054	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:11833054C>T	ENST00000341191.6	-	4	1448	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q	ZNF823_ENST00000545749.1_Missense_Mutation_p.R250Q	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TTCATGTCTTCGAAGGGAACC	0.423000										HNSCC(68;0.2)			25	40					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99008055	99008055	+	Missense_Mutation	SNP	G	G	A	rs143442400		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:99008055G>A	ENST00000342502.2	-	3	772	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.R15C	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	121					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TCCTGTAGACGCTTTAGATGA	0.323000													33	36					0	0	1	0	0
FECH	2235	broad.mit.edu	37	18	55238688	55238688	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:55238688C>A	ENST00000262093.5	-	4	550	c.399G>T	c.(397-399)aaG>aaT	p.K133N	FECH_ENST00000585699.1_5'UTR|FECH_ENST00000382873.3_Missense_Mutation_p.K139N	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	133					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	p.K139N(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				AAGTCCATATCTTGATGGGGG	0.478000													27	42					9.80776e-20	1.25071e-19	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11671917	11671917	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:11671917G>A	ENST00000262442.4	+	37	7386	c.7318G>A	c.(7318-7320)Gaa>Aaa	p.E2440K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2440K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E2440K(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCCCAGTTCGAATTTGACCC	0.547000													25	32					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21958992	21958992	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:21958992C>A	ENST00000261200.4	-	37	4451	c.4452G>T	c.(4450-4452)gaG>gaT	p.E1484D	ABCC9_ENST00000345162.2_Missense_Mutation_p.E1448D|ABCC9_ENST00000261201.4_Missense_Mutation_p.E1484D	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1484	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCAAAATATTCTCCTGCAAAA	0.378000													26	25					4.22769e-11	4.83619e-11	1	1	0
CGNL1	84952	broad.mit.edu	37	15	57809159	57809159	+	Missense_Mutation	SNP	C	C	T	rs149796026	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:57809159C>T	ENST00000281282.5	+	9	2663	c.2585C>T	c.(2584-2586)gCg>gTg	p.A862V		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	862						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAAGCCAAGGCGAAGGAAACG	0.547000													14	25					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115303666	115303666	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:115303666G>T	ENST00000371906.4	+	3	323	c.133G>T	c.(133-135)Gat>Tat	p.D45Y		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	45					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TAAGCATTTAGATGCAATTCC	0.373000													43	1					1.59361e-14	1.90128e-14	1	1	0
ANKS4B	257629	broad.mit.edu	37	16	21261635	21261635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:21261635C>T	ENST00000311620.5	+	2	821	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	250										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CAAAGAGAAGCTCCAGTTGTC	0.498000													37	34					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	189028277	189028277	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:189028277C>A	ENST00000345063.3	+	5	749	c.582C>A	c.(580-582)ttC>ttA	p.F194L	TPRG1_ENST00000433971.1_Missense_Mutation_p.F194L	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	194										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		ATGCTACTTTCACTGAGCATC	0.483000													35	30					1.36615e-20	1.75855e-20	1	1	0
IL1RL2	8808	broad.mit.edu	37	2	102849459	102849459	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:102849459A>C	ENST00000264257.2	+	10	1298	c.1172A>C	c.(1171-1173)aAg>aCg	p.K391T	IL1RL2_ENST00000441515.2_Missense_Mutation_p.K273T|IL1RL2_ENST00000539491.1_Missense_Mutation_p.K391T|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	391	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTATACCCCAAGCCCCACAAG	0.453000													33	51					0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41476406	41476406	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:41476406C>A	ENST00000314992.5	-	10	1458	c.1268G>T	c.(1267-1269)aGa>aTa	p.R423I	EXD1_ENST00000458580.2_Missense_Mutation_p.R481I	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	423					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CTGAGTTATTCTCTGGTCCTC	0.418000													6	185					8.12818e-05	8.45312e-05	1	1	0
ATP1A1	476	broad.mit.edu	37	1	116942124	116942124	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:116942124T>G	ENST00000537345.1	+	18	2894	c.2531T>G	c.(2530-2532)cTt>cGt	p.L844R	ATP1A1_ENST00000369496.4_Missense_Mutation_p.L813R|ATP1A1_ENST00000295598.5_Missense_Mutation_p.L844R	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	844					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	ACAGACAAACTTGTGAATGAG	0.542000													30	31					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28096594	28096594	+	Missense_Mutation	SNP	C	C	T	rs145635978		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:28096594C>T	ENST00000354638.3	-	22	2427	c.2272G>A	c.(2272-2274)Gac>Aac	p.D758N	OCA2_ENST00000353809.5_Missense_Mutation_p.D734N	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	758					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ACCTCAGGGTCGTGGCTCAGG	0.612000									Oculocutaneous Albinism				9	10					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86909547	86909547	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:86909547C>T	ENST00000370565.4	+	10	1728	c.1566C>T	c.(1564-1566)aaC>aaT	p.N522N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	522					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CTGTGGGCAACGACACTATGT	0.373000													34	52					0	0	1	0	0
AURKA	6790	broad.mit.edu	37	20	54958042	54958042	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:54958042G>A	ENST00000395909.4	-	7	1130	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	AURKA_ENST00000395914.1_Splice_Site_p.R189W|AURKA_ENST00000395913.3_Splice_Site_p.R189W|AURKA_ENST00000395907.1_Splice_Site_p.R189W|AURKA_ENST00000312783.6_Splice_Site_p.R189W|AURKA_ENST00000395915.3_Splice_Site_p.R189W|AURKA_ENST00000347343.2_Splice_Site_p.R189W|AURKA_ENST00000395911.1_Splice_Site_p.R189W|AURKA_ENST00000371356.2_Splice_Site_p.R189W	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	189	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			AAAACTCACCGAAGGTGGGAC	0.488000													34	49					0	0	1	0	0
SLC10A7	84068	broad.mit.edu	37	4	147227130	147227130	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:147227130G>T	ENST00000432059.2	-	6	710	c.464C>A	c.(463-465)tCt>tAt	p.S155Y	SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000507030.1_Missense_Mutation_p.S168Y|SLC10A7_ENST00000394062.3_Missense_Mutation_p.S168Y|SLC10A7_ENST00000335472.7_Missense_Mutation_p.S168Y			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	168						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AGAAAAAATAGATGTGAAAGG	0.333000													14	14					0.000308642	0.00031825	1	1	0
OSGIN2	734	broad.mit.edu	37	8	90937227	90937227	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:90937227C>A	ENST00000451899.2	+	6	1377	c.1117C>A	c.(1117-1119)Cat>Aat	p.H373N	OSGIN2_ENST00000297438.2_Missense_Mutation_p.H329N	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	329					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CCCTGTGATTCATGTGTTTCG	0.413000													43	50					1.15505e-17	1.43788e-17	1	1	0
MBOAT2	129642	broad.mit.edu	37	2	9098719	9098719	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:9098719C>T	ENST00000305997.3	-	2	326	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	43					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.R43Q(2)	MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAGATAAGTTCGAAACCAAAT	0.358000													28	34					0	0	1	0	0
MBOAT7	79143	broad.mit.edu	37	19	54692119	54692119	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:54692119G>T	ENST00000245615.1	-	3	638	c.158C>A	c.(157-159)tCt>tAt	p.S53Y	MBOAT7_ENST00000431666.2_Missense_Mutation_p.F22L|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000391754.1_Missense_Mutation_p.S53Y|MBOAT7_ENST00000338624.6_Missense_Mutation_p.F22L	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	53					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGTGACCAGAGAATGCAAAGT	0.642000													44	46					5.48756e-27	7.39954e-27	1	1	0
JAK1	3716	broad.mit.edu	37	1	65316517	65316517	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:65316517G>A	ENST00000342505.4	-	12	1973	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	575					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGATCCGATCGAAACTCAGCT	0.587000			Mis		ALL								20	17					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904110	5904110	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:5904110C>A	ENST00000378961.4	+	4	1524	c.1320C>A	c.(1318-1320)ttC>ttA	p.F440L		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	440						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGAAAAGGTTCTTGGGTGAAG	0.537000													75	76					1.2582e-26	1.68762e-26	1	1	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925109	4925109	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrY:4925109C>T	ENST00000333703.4	+	4	725	c.212C>T	c.(211-213)tCg>tTg	p.S71L	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.S82L|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.S82L	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	82	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTTAACTTGTCGCTGATTCCA	0.458000													56	4					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140389390	140389390	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140389390A>C	ENST00000532602.1	+	4	3754	c.2721A>C	c.(2719-2721)caA>caC	p.Q907H	PCDHA10_ENST00000307360.5_Missense_Mutation_p.Q905H|PCDHA2_ENST00000526136.1_Missense_Mutation_p.Q905H|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Missense_Mutation_p.Q643H|PCDHA10_ENST00000506939.2_Missense_Mutation_p.Q642H|PCDHA12_ENST00000398631.2_Missense_Mutation_p.Q898H|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.Q964H|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Missense_Mutation_p.Q907H|PCDHA13_ENST00000289272.2_Missense_Mutation_p.Q907H|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Missense_Mutation_p.Q904H|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.Q920H|PCDHA6_ENST00000527624.1_Missense_Mutation_p.Q643H|PCDHA8_ENST00000531613.1_Missense_Mutation_p.Q907H|PCDHA11_ENST00000398640.2_Missense_Mutation_p.Q906H|PCDHA7_ENST00000525929.1_Missense_Mutation_p.Q894H|PCDHA6_ENST00000529310.1_Missense_Mutation_p.Q907H|PCDHA3_ENST00000522353.2_Missense_Mutation_p.Q907H|PCDHA5_ENST00000529859.1_Missense_Mutation_p.Q893H	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAACAGCCAAATTGACAAAA	0.458000													35	45					0	0	1	0	0
TAAR1	134864	broad.mit.edu	37	6	132966550	132966550	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:132966550G>T	ENST00000275216.1	-	1	592	c.593C>A	c.(592-594)tCt>tAt	p.S198Y		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	198						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	TATATAAAAAGAAGTCATAAA	0.358000													37	37					1.26612e-14	1.51395e-14	1	1	0
DNAJC25	548645	broad.mit.edu	37	9	114411923	114411923	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:114411923A>C	ENST00000313525.3	+	3	736	c.680A>C	c.(679-681)aAa>aCa	p.K227T	DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	227					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						AACATTATAAAAAGTAAAATA	0.358000													17	21					0	0	1	0	0
SCARB1	949	broad.mit.edu	37	12	125270830	125270830	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:125270830G>A	ENST00000415380.2	-	11	1599	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	SCARB1_ENST00000540495.1_Missense_Mutation_p.R455W|SCARB1_ENST00000339570.5_Intron|SCARB1_ENST00000535005.1_Intron|SCARB1_ENST00000546215.1_Intron|SCARB1_ENST00000261693.6_Intron|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000544327.1_Missense_Mutation_p.R438W|SCARB1_ENST00000541205.1_Missense_Mutation_p.R451W			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	492					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CAGAGGGTCCGATCTGAGGCC	0.677000													38	39					0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79125165	79125165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:79125165G>A	ENST00000370747.4	+	6	1094	c.1009G>A	c.(1009-1011)Gct>Act	p.A337T	IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_Missense_Mutation_p.A54T	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	337					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GTTGGTAAACGCTGGTGAGTC	0.368000													10	15					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214814332	214814332	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:214814332G>A	ENST00000366955.3	+	12	2819	c.2651G>A	c.(2650-2652)cGc>cAc	p.R884H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	884					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACAAGTCAGCGCATTAGTAAG	0.393000													21	70					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43824171	43824171	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:43824171C>T	ENST00000389420.3	-	23	3364	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R276H|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1122H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1122	TSP type-1 6.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTCACTGGGGCGACTAGCTTC	0.368000													13	23					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300682	103300682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:103300682C>T	ENST00000233969.2	+	5	1454	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	438						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGGAGGACTTCGAGGTGCCAT	0.438000													59	57					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43730552	43730552	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:43730552C>T	ENST00000263801.3	-	16	3398	c.3146G>A	c.(3145-3147)cGa>cAa	p.R1049Q	TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1054Q|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1054Q|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1054Q	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1049					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	p.R1049Q(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATCCTCACTTCGAGCCTCATT	0.413000								Other conserved DNA damage response genes					36	35					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19183884	19183884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:19183884C>T	ENST00000375371.3	-	2	445	c.424G>A	c.(424-426)Gac>Aac	p.D142N	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	142					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)	TCGGAGTTGTCAGGGCCAATG	0.587000													36	52					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	131958569	131958569	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:131958569G>A	ENST00000414305.1	+	2	373	c.45G>A	c.(43-45)aaG>aaA	p.K15K	ENPP3_ENST00000358229.5_Silent_p.K15K|ENPP3_ENST00000543135.1_5'UTR|ENPP3_ENST00000357639.3_Silent_p.K15K|ENPP3_ENST00000427148.2_5'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	15					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTGTTAAGAAGAACACTCTTA	0.318000													16	21					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12415988	12415988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:12415988G>T	ENST00000358136.3	+	48	9842	c.9712G>T	c.(9712-9714)Gaa>Taa	p.E3238*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.E3213*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3237					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTCTGTAAAGAATTGCTCAT	0.433000													31	34					4.74835e-14	5.62983e-14	1	1	0
ZNF827	152485	broad.mit.edu	37	4	146823424	146823424	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:146823424C>T	ENST00000508784.1	-	2	1214	c.987G>A	c.(985-987)ccG>ccA	p.P329P	ZNF827_ENST00000379448.4_Silent_p.P329P|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	329	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					gtggaggtggcggAGTGACTT	0.557000													22	24					0	0	1	0	0
CGA	1081	broad.mit.edu	37	6	87796144	87796144	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:87796144C>A	ENST00000369582.2	-	3	197	c.97G>T	c.(97-99)Gaa>Taa	p.E33*		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	33					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		AGCGTGCATTCTGGGCAATCT	0.468000													50	79					8.72198e-27	1.17283e-26	1	1	0
TMEM207	131920	broad.mit.edu	37	3	190167661	190167661	+	Translation_Start_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:190167661G>T	ENST00000354905.2	-	0	4					NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207							integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		TTCTTTCTCAGAACTTACTAG	0.413000													7	13					8.12818e-05	8.45312e-05	1	1	0
ATP13A5	344905	broad.mit.edu	37	3	193040354	193040354	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:193040354C>A	ENST00000342358.4	-	15	1801	c.1684G>T	c.(1684-1686)Gat>Tat	p.D562Y		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	562					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACAATGCAATCTTCCATTTTC	0.294000													40	37					1.59932e-28	2.17693e-28	1	1	0
MACF1	23499	broad.mit.edu	37	1	39893795	39893795	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:39893795C>T	ENST00000564288.1	+	63	17416	c.16639C>T	c.(16639-16641)Cgg>Tgg	p.R5547W	MACF1_ENST00000567887.1_Missense_Mutation_p.R5584W|MACF1_ENST00000545844.1_Missense_Mutation_p.R3485W|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Missense_Mutation_p.R3485W|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.R3987W|MACF1_ENST00000317713.7_Missense_Mutation_p.R3485W			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5552					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCGCTGTTGTCGGAAGGCAGC	0.537000													28	50					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71597022	71597022	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:71597022G>T	ENST00000409544.1	+	8	2782	c.2152G>T	c.(2152-2154)Gaa>Taa	p.E718*	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Nonsense_Mutation_p.E718*|ZNF638_ENST00000264447.4_Nonsense_Mutation_p.E718*|ZNF638_ENST00000377802.2_Nonsense_Mutation_p.E718*	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	718	RRM 1.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGCTTACCTAGAAATGGAATT	0.299000													23	38					9.57634e-11	1.08962e-10	1	1	0
CFH	3075	broad.mit.edu	37	1	196642117	196642117	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:196642117A>C	ENST00000367429.4	+	2	308	c.68A>C	c.(67-69)gAa>gCa	p.E23A	CFH_ENST00000359637.2_Missense_Mutation_p.E23A|CFH_ENST00000439155.2_Missense_Mutation_p.E23A|CFH_ENST00000496761.1_3'UTR	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	23	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GATTGCAATGAACTTCCTCCA	0.353000													14	30					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123893786	123893786	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:123893786G>A	ENST00000375024.1	+	1	67	c.67G>A	c.(67-69)Gcc>Acc	p.A23T		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGGGCTGGACGCCCCACTCTT	0.592000													19	204					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128939849	128939849	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:128939849G>A	ENST00000375990.3	+	37	4560	c.4157G>A	c.(4156-4158)cGa>cAa	p.R1386Q	UGGT1_ENST00000259253.6_Missense_Mutation_p.R1410Q			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1410	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTAGCCGGGCGAAAGTATCAT	0.438000													24	31					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034713	16034713	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:16034713C>T	ENST00000402119.4	-	6	1253	c.827G>A	c.(826-828)tGc>tAc	p.C276Y	CYP4F11_ENST00000326742.8_Missense_Mutation_p.C276Y|CYP4F11_ENST00000248041.8_Missense_Mutation_p.C276Y|CYP4F11_ENST00000591841.1_5'UTR	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11				C -> R (in dbSNP:rs8104361).		inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGGGAGGGTGCAGCGCCGCTC	0.542000													59	89					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121692598	121692598	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:121692598G>A	ENST00000369075.3	+	17	2912	c.2840G>A	c.(2839-2841)cGa>cAa	p.R947Q	SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_Missense_Mutation_p.R736Q	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	947	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	p.R947Q(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GGAGGCCGCCGAATTGACTAC	0.368000													35	40					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103288584	103288584	+	Missense_Mutation	SNP	A	A	G	rs62508677		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:103288584A>G	ENST00000553106.1	-	3	753	c.281T>C	c.(280-282)aTc>aCc	p.I94T	PAH_ENST00000307000.2_Missense_Mutation_p.I89T|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	94	ACT.		Missing (in PKU; mild; haplotype 2).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GATCTTGATGATGTTTGTCAG	0.398000													38	37					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24641958	24641958	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:24641958C>T	ENST00000311457.3	+	3	692	c.93C>T	c.(91-93)cgC>cgT	p.R31R	REC8_ENST00000559919.1_Silent_p.R31R			O95072	REC8_HUMAN	REC8 meiotic recombination protein	31			R -> C (in dbSNP:rs34075659).		mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TGGTGAAGCGCGAATACCTGA	0.637000													34	46					0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50523212	50523212	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:50523212C>T	ENST00000311597.5	-	2	726	c.120G>A	c.(118-120)tcG>tcA	p.S40S	MLC1_ENST00000538737.1_Silent_p.S40S|MLC1_ENST00000450140.2_Silent_p.S40S|MLC1_ENST00000431262.2_Silent_p.S40S|MLC1_ENST00000395876.2_Silent_p.S40S|MLC1_ENST00000535444.1_Intron	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	40						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GCAGTCTCTTCGACAGCTGCA	0.647000													46	55					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14534948	14534948	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:14534948A>C	ENST00000358970.5	-	4	868	c.869T>G	c.(868-870)tTt>tGt	p.F290C	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	290										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTTGATTAAAAATTTCACCAC	0.308000													9	63					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412609	43412609	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:43412609G>A	ENST00000310826.5	-	3	1779	c.1596C>T	c.(1594-1596)gaC>gaT	p.D532D	ZBTB21_ENST00000398499.1_Silent_p.D532D|ZBTB21_ENST00000398505.3_Silent_p.D532D|ZBTB21_ENST00000398511.3_Silent_p.D532D|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CACCAAATTCGTCTTTATTCA	0.408000													32	52					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53785873	53785873	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:53785873C>T	ENST00000288139.4	+	29	3792	c.3674C>T	c.(3673-3675)tCg>tTg	p.S1225L	CACNA1D_ENST00000540742.1_Missense_Mutation_p.S112L|CACNA1D_ENST00000350061.5_Missense_Mutation_p.S1205L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S1205L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.S1225L(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTGAACTCTTCGCCTTTCGAA	0.507000													74	110					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282196	152282196	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:152282196G>A	ENST00000368799.1	-	3	5201	c.5166C>T	c.(5164-5166)agC>agT	p.S1722S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1722	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTCCCTCGCTGTCACTGG	0.597000									Ichthyosis				228	226					0	0	1	0	0
BTLA	151888	broad.mit.edu	37	3	112185123	112185123	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:112185123G>T	ENST00000334529.5	-	5	904	c.702C>A	c.(700-702)ttC>ttA	p.F234L	BTLA_ENST00000474965.1_5'UTR|BTLA_ENST00000383680.4_Missense_Mutation_p.F186L	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	234					T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CCTGCATCCTGAAACAAAGGT	0.428000													16	28					2.23348e-06	2.38223e-06	1	1	0
CYP7A1	1581	broad.mit.edu	37	8	59409363	59409363	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:59409363C>A	ENST00000301645.3	-	3	845	c.708G>T	c.(706-708)gaG>gaT	p.E236D		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	236					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CTGCCAGTTTCTCCCGGGCAT	0.498000									Neonatal Giant Cell Hepatitis				57	64					2.5401e-28	3.45217e-28	1	1	0
TMC3	342125	broad.mit.edu	37	15	81633857	81633857	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:81633857A>G	ENST00000558726.1	-	16	1856	c.1721T>C	c.(1720-1722)aTg>aCg	p.M574T	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.M573T|RP11-761I4.3_ENST00000560973.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	573						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GAAGGCCCCCATCCTGGAACC	0.532000													5	4					0	0	1	0	0
C12orf55	144535	broad.mit.edu	37	12	97137338	97137338	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:97137338G>A	ENST00000524981.4	+	53	7400		c.e53+1							chromosome 12 open reading frame 55																		AAACCTTCAGGTAGAAAGGAA	0.413000													24	45					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126691536	126691536	+	Silent	SNP	G	G	A	rs144209188		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:126691536G>A	ENST00000309035.6	-	3	2101	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G	CTBP2_ENST00000337195.5_Silent_p.G117G|CTBP2_ENST00000531469.1_Silent_p.G117G|CTBP2_ENST00000411419.2_Silent_p.G117G|CTBP2_ENST00000334808.6_Silent_p.G185G|CTBP2_ENST00000494626.2_Silent_p.G117G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	117					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CACCGAGCTCGCCGGCAGCCT	0.632000													36	32					0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128182073	128182073	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:128182073C>T	ENST00000469083.1	-	2	2573	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	DNAJB8_ENST00000319153.3_Missense_Mutation_p.E6K			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	6	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CCCAGCACTTCGTAGTAGTTA	0.627000													40	54					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835819	247835819	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:247835819G>A	ENST00000359688.2	-	1	546	c.525C>T	c.(523-525)ttC>ttT	p.F175F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			GTATCTCACAGAAGAAGTGGT	0.478000													38	43					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595459	179595459	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179595459G>T	ENST00000589042.1	-	61	18025	c.17801C>A	c.(17800-17802)tCt>tAt	p.S5934Y	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S4690Y|TTN_ENST00000591111.1_Missense_Mutation_p.S5617Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5617	Ig-like 40.						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)			ATCAATGAAAGAACCTTTAAT	0.348000													29	42					1.17739e-12	1.36828e-12	1	1	0
TVP23B	51030	broad.mit.edu	37	17	18692703	18692703	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:18692703A>C	ENST00000307767.8	+	2	349	c.50A>C	c.(49-51)gAt>gCt	p.D17A	TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000574226.1_Missense_Mutation_p.D17A|TVP23B_ENST00000581733.1_5'UTR	NM_016078.4	NP_057162.4			trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)																		TCACTGTTTGATGCGGAAGAG	0.408000													40	50					0	0	1	0	0
ASRGL1	80150	broad.mit.edu	37	11	62124488	62124488	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:62124488C>T	ENST00000415229.2	+	4	578	c.363C>T	c.(361-363)ggC>ggT	p.G121G	ASRGL1_ENST00000535727.1_5'UTR|ASRGL1_ENST00000301776.5_Silent_p.G121G	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	121					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CTGACCAAGGCGCAGCGCAGT	0.408000													39	35					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116758434	116758434	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:116758434C>T	ENST00000331677.3	+	7	3247	c.2803C>T	c.(2803-2805)Ctt>Ttt	p.L935F	DSE_ENST00000537543.1_Missense_Mutation_p.L954F|DSE_ENST00000359564.2_Missense_Mutation_p.L935F|DSE_ENST00000452085.3_Missense_Mutation_p.L935F			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	935					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CCAAAGATGTCTTTATGCAGT	0.398000													34	27					0	0	1	0	0
ZNF850	342892	broad.mit.edu	37	19	37238856	37238856	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:37238856C>T	ENST00000591344.1	-	5	3244	c.3086G>A	c.(3085-3087)cGa>cAa	p.R1029Q	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	1029					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AGTATGGATTCGTTTATGTTG	0.443000													5	9					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237774085	237774085	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:237774085A>G	ENST00000366574.2	+	36	5024	c.4707A>G	c.(4705-4707)ggA>ggG	p.G1569G	RYR2_ENST00000542537.1_Silent_p.G1553G|RYR2_ENST00000360064.6_Silent_p.G1567G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1569	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)			TCTCGGCGGGATTATTCAAGA	0.532000													5	7					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125642	12125642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:12125642C>T	ENST00000379388.2	+	4	5946	c.5614C>T	c.(5614-5616)Cga>Tga	p.R1872*		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1872					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCTTACAGTTCGAAGTTCACC	0.358000													30	50					0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77521396	77521396	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:77521396T>C	ENST00000255194.6	-	6	748	c.573A>G	c.(571-573)gtA>gtG	p.V191V	AP3B1_ENST00000519295.1_Silent_p.V142V	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	191					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GTTTTTCAATTACTTCAATTA	0.269000									Hermansky-Pudlak syndrome				7	14					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38645525	38645525	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:38645525C>T	ENST00000413689.1	-	12	1761	c.1568G>A	c.(1567-1569)cGt>cAt	p.R523H	SCN5A_ENST00000423572.2_Missense_Mutation_p.R523H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R523H|SCN5A_ENST00000333535.4_Missense_Mutation_p.R523H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R523H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R523H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R523H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R523H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R523H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R523H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	523					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCGGCTGGAACGTGGCTTCAT	0.557000													7	10					0	0	1	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38411533	38411533	+	Missense_Mutation	SNP	C	C	T	rs138029463		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:38411533C>T	ENST00000377694.1	-	4	723	c.701G>A	c.(700-702)cGa>cAa	p.R234Q		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	234	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		ATCCTCCTTTCGCAGGGGGTT	0.448000													19	22					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11347233	11347233	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:11347233G>T	ENST00000294618.7	-	20	2192	c.2181C>A	c.(2179-2181)ttC>ttA	p.F727L	DOCK6_ENST00000319867.7_Missense_Mutation_p.F31L	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	727	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCAGGGTGAAGAATTTGTCCA	0.612000													6	9					6.5536e-12	7.5503e-12	1	1	0
RNF38	152006	broad.mit.edu	37	9	36375992	36375992	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:36375992G>A	ENST00000357058.3	-	3	652	c.46C>T	c.(46-48)Cga>Tga	p.R16*	RNF38_ENST00000350199.4_Nonsense_Mutation_p.R16*|RNF38_ENST00000377877.4_5'UTR|RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000353739.4_Nonsense_Mutation_p.R49*|RNF38_ENST00000259605.6_Nonsense_Mutation_p.R99*|RNF38_ENST00000377885.2_Nonsense_Mutation_p.R16*	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38	99							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			TGGCTTGGTCGAACTGAAGGG	0.453000													15	22					0	0	1	0	0
HMBOX1	79618	broad.mit.edu	37	8	28827631	28827631	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:28827631G>A	ENST00000397358.3	+	4	799	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	HMBOX1_ENST00000403668.2_Missense_Mutation_p.R32Q|HMBOX1_ENST00000524238.1_Missense_Mutation_p.R32Q|HMBOX1_ENST00000523613.1_Missense_Mutation_p.R32Q|HMBOX1_ENST00000287701.10_Missense_Mutation_p.R32Q|HMBOX1_ENST00000558662.1_Missense_Mutation_p.R32Q|HMBOX1_ENST00000444075.1_Missense_Mutation_p.R32Q|HMBOX1_ENST00000355231.5_Missense_Mutation_p.R32Q|HMBOX1_ENST00000519047.1_Missense_Mutation_p.R32Q	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	32					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CTGCTTCAGCGACTTCGGCGT	0.403000													42	50					0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190430214	190430214	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:190430214G>A	ENST00000261024.2	-	6	1052	c.626C>T	c.(625-627)tCg>tTg	p.S209L		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	209					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GTTCCATCCCGAAATAAAGCC	0.483000													106	47					0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664173	169664173	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:169664173C>T	ENST00000483289.2	-	0	3121				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						GGTCTTTGTGCGAGATGGTCC	0.502000													21	25					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30700091	30700091	+	Missense_Mutation	SNP	G	G	A	rs138595877	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:30700091G>A	ENST00000256246.2	-	1	6517	c.6443C>T	c.(6442-6444)gCt>gTt	p.A2148V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2148										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCAATTAACAGCTTCATTATA	0.328000													20	28					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81558024	81558024	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:81558024A>T	ENST00000394660.2	+	4	806	c.446A>T	c.(445-447)gAa>gTa	p.E149V	IL16_ENST00000302987.4_Missense_Mutation_p.E149V	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	149					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGCACAAGAGAAATTGATTTT	0.418000											OREG0023362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	15					0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46722489	46722489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:46722489G>A	ENST00000398576.2	-	12	1364	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	LCP1_ENST00000323076.2_Missense_Mutation_p.R326W			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	326	Actin-binding 1.|CH 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGCCTTACCCGCAGTCCTGAC	0.473000			T	BCL6	NHL								161	199					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117261796	117261796	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:117261796G>T	ENST00000278935.3	+	17	2295	c.2148G>T	c.(2146-2148)caG>caT	p.Q716H	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	716	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GCTTGGAACAGAAAAATAGGC	0.542000													46	57					5.48756e-27	7.39954e-27	1	1	0
DMXL2	23312	broad.mit.edu	37	15	51758397	51758397	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:51758397C>T	ENST00000251076.5	-	30	7788	c.7501G>A	c.(7501-7503)Gat>Aat	p.D2501N	DMXL2_ENST00000543779.2_Missense_Mutation_p.D2502N|DMXL2_ENST00000449909.3_Missense_Mutation_p.D1865N|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2501						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GAATTTGGATCTTGGTGCTCC	0.279000													47	40					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93127693	93127693	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:93127693C>A	ENST00000298050.3	+	10	1210	c.1110C>A	c.(1108-1110)atC>atA	p.I370I	CCDC67_ENST00000525646.1_Silent_p.I112I	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	370										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GGAATGAAATCTCTGACCTAA	0.393000													18	11					6.49762e-13	7.57416e-13	1	1	0
CAPN6	827	broad.mit.edu	37	X	110491101	110491101	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:110491101T>G	ENST00000324068.1	-	11	1771	c.1604A>C	c.(1603-1605)gAa>gCa	p.E535A	CAPN6_ENST00000541758.1_Missense_Mutation_p.E280A	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	535	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ATTCTTACTTTCATTGGCATA	0.423000													81	2					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60194328	60194328	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:60194328G>A	ENST00000267484.5	-	3	1409	c.1074C>T	c.(1072-1074)acC>acT	p.T358T		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	358					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTTTGATGGCGGTGATCAGCT	0.612000													10	11					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43773211	43773211	+	Silent	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:43773211T>G	ENST00000263801.3	-	5	618	c.366A>C	c.(364-366)ggA>ggC	p.G122G	TP53BP1_ENST00000382039.3_Silent_p.G127G|TP53BP1_ENST00000450115.2_Silent_p.G127G|TP53BP1_ENST00000382044.4_Silent_p.G127G	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	122					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCACTGACATTCCCAGAACAC	0.453000								Other conserved DNA damage response genes					33	40					0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56139399	56139399	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:56139399G>A	ENST00000416613.1	+	37	3655	c.3583G>A	c.(3583-3585)Gaa>Aaa	p.E1195K	KTN1_ENST00000395311.1_Missense_Mutation_p.E1172K|KTN1_ENST00000438792.2_Missense_Mutation_p.E1166K|KTN1_ENST00000395308.1_Missense_Mutation_p.E1172K|KTN1_ENST00000395309.3_Missense_Mutation_p.E1195K|KTN1_ENST00000413890.2_Missense_Mutation_p.E1172K|KTN1_ENST00000554507.1_Missense_Mutation_p.E461K|KTN1_ENST00000555573.1_Missense_Mutation_p.E200K|KTN1_ENST00000395314.3_Missense_Mutation_p.E1195K			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1195					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		p.E1195K(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ATTAAGAAGCGAAAATAAGGA	0.323000			T	RET	papillary thryoid								17	22					0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136637093	136637093	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:136637093G>T	ENST00000371851.1	-	24	2506	c.2181C>A	c.(2179-2181)ttC>ttA	p.F727L	VAV2_ENST00000406606.3_Missense_Mutation_p.F727L|VAV2_ENST00000371850.3_Missense_Mutation_p.F737L			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	737	SH2.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGAGGCTGTCGAATTTCTTGG	0.602000													73	92					4.83248e-46	6.85234e-46	1	1	0
DHX32	55760	broad.mit.edu	37	10	127525423	127525423	+	Splice_Site	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:127525423A>C	ENST00000284690.3	-	11	2555	c.2065T>G	c.(2065-2067)Ttt>Gtt	p.F689V	DHX32_ENST00000284688.6_Splice_Site_p.F608V|DHX32_ENST00000368721.1_Splice_Site_p.F313V|BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000429863.2_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	689						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGCTGCATAAATCTGTTTATT	0.428000													14	12					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109318376	109318376	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:109318376G>T	ENST00000356711.2	+	2	231	c.105G>T	c.(103-105)gaG>gaT	p.E35D	MYO16_ENST00000357550.2_Missense_Mutation_p.E35D|MYO16_ENST00000251041.5_Missense_Mutation_p.E35D	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	35					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.E35D(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)			ATGAGCGCGAGAAGGCTTTTC	0.517000													19	37					1.01871e-10	1.15764e-10	1	1	0
ARMC3	219681	broad.mit.edu	37	10	23326238	23326238	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:23326238C>T	ENST00000298032.5	+	19	2533	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	ARMC3_ENST00000409983.3_Missense_Mutation_p.R810C|ARMC3_ENST00000376528.4_Missense_Mutation_p.R554C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	817							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCCCTAGTTCGCGGAGAGTA	0.542000													33	38					0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86615973	86615973	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:86615973G>A	ENST00000325875.3	+	3	404	c.72G>A	c.(70-72)ccG>ccA	p.P24P		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	24					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAGTACCTCCGATGTGGCTGG	0.353000													58	64					0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38224568	38224568	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:38224568A>C	ENST00000311806.3	+	2	517	c.145A>C	c.(145-147)Aac>Cac	p.N49H	OXSR1_ENST00000446845.1_Missense_Mutation_p.N49H	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	49	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAAACGGATAAACCTTGAGAA	0.378000													19	16					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744355	135744355	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:135744355C>T	ENST00000375845.3	-	7	2117	c.2087G>A	c.(2086-2088)cGt>cAt	p.R696H	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R583H|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R713H	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		ATTGGTGATACGTCTGCCTGA	0.408000													62	86					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103048327	103048327	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:103048327G>A	ENST00000306312.3	-	8	1120	c.859C>T	c.(859-861)Ccg>Tcg	p.P287S	SLC26A5_ENST00000393727.1_Missense_Mutation_p.P287S|SLC26A5_ENST00000356767.4_Missense_Mutation_p.P287S|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393723.1_Missense_Mutation_p.P287S|SLC26A5_ENST00000393730.1_Missense_Mutation_p.P287S|SLC26A5_ENST00000393729.1_Missense_Mutation_p.P250S|SLC26A5_ENST00000432958.2_Missense_Mutation_p.P287S|SLC26A5_ENST00000339444.6_Missense_Mutation_p.P287S|SLC26A5_ENST00000393735.2_Missense_Mutation_p.P287S	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	287					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATAGGCGCCGGCAATTTCTCT	0.448000													45	63					0	0	1	0	0
PPAT	5471	broad.mit.edu	37	4	57272804	57272804	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:57272804G>T	ENST00000264220.2	-	3	396	c.259C>A	c.(259-261)Ctt>Att	p.L87I	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	87	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	CCAATTCCAAGATTTGAAACA	0.373000													4	55					0.150653	0.151135	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79318821	79318821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:79318821C>A	ENST00000428286.1	-	9	7831	c.6631G>T	c.(6631-6633)Gaa>Taa	p.E2211*	PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.E2570*			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2570					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCTATGCTTTCTCTTTCTTCA	0.428000													6	194					3.59834e-05	3.7679e-05	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26423091	26423091	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:26423091G>T	ENST00000335473.7	+	43	7401	c.7151G>T	c.(7150-7152)aGg>aTg	p.R2384M	MYO18B_ENST00000407587.2_Missense_Mutation_p.R2385M|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2384M	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2384						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGTCCTCGGAGGCGGTGTCTG	0.592000													69	79					3.07184e-27	4.15158e-27	1	1	0
GPC5	2262	broad.mit.edu	37	13	92345972	92345972	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:92345972C>T	ENST00000377067.3	+	3	1229	c.857C>T	c.(856-858)gCg>gTg	p.A286V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	286						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCGCACATGGCGGAGCTTAAT	0.532000													37	43					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41961767	41961767	+	Silent	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:41961767T>G	ENST00000219905.7	+	2	856	c.675T>G	c.(673-675)acT>acG	p.T225T	MGA_ENST00000545763.1_Silent_p.T225T|MGA_ENST00000570161.1_Silent_p.T225T|MGA_ENST00000566586.1_Silent_p.T225T|MGA_ENST00000389936.4_Silent_p.T225T|MGA_ENST00000568630.1_Intron	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	225						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTGTCCACACTTTTACCTTCC	0.433000													36	42					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18625026	18625026	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:18625026G>T	ENST00000406451.4	+	3	295	c.145G>T	c.(145-147)Gaa>Taa	p.E49*	HDAC9_ENST00000441542.2_Nonsense_Mutation_p.E49*|HDAC9_ENST00000428307.2_Nonsense_Mutation_p.E49*|HDAC9_ENST00000417496.2_Nonsense_Mutation_p.E91*|HDAC9_ENST00000406072.1_Nonsense_Mutation_p.E77*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.E49*|HDAC9_ENST00000456174.2_Nonsense_Mutation_p.E18*|HDAC9_ENST00000405010.3_Nonsense_Mutation_p.E49*|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000524023.1_Nonsense_Mutation_p.E18*|HDAC9_ENST00000432645.2_Nonsense_Mutation_p.E49*	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATTGCAGCAGGAATTACTTCT	0.512000													24	32					9.57634e-11	1.08962e-10	1	1	0
ST3GAL2	6483	broad.mit.edu	37	16	70417131	70417131	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:70417131C>T	ENST00000393640.4	-	4	2828	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.A241T			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	241					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TTCACTGGGGCGTAGGTGCTG	0.537000													33	27					0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12913976	12913976	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:12913976C>T	ENST00000338034.4	-	8	931	c.692G>A	c.(691-693)aGa>aAa	p.R231K	ELAC2_ENST00000426905.3_Missense_Mutation_p.R191K|ELAC2_ENST00000395962.2_Missense_Mutation_p.R212K|ELAC2_ENST00000609345.1_5'UTR	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	231					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GACCCCTCTTCTCTGGCTAAC	0.468000													22	12					0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129518433	129518433	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:129518433C>A	ENST00000276218.2	-	1	1078	c.989G>T	c.(988-990)aGc>aTc	p.S330I		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	330						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AAACTCTGAGCTGGAGATAGT	0.542000													51	2					1.4374e-25	1.91641e-25	1	1	0
CGB8	94115	broad.mit.edu	37	19	49551986	49551986	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:49551986A>C	ENST00000355414.2	-	1	414	c.5T>G	c.(4-6)tTc>tGc	p.F2C	CGB1_ENST00000391869.3_Missense_Mutation_p.F2C|CGB8_ENST00000448456.3_Missense_Mutation_p.F4C			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 8	4					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	TCTTACCTGGAACATCTCCAT	0.607000													102	145					0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132263950	132263950	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:132263950C>T	ENST00000438378.2	+	0	1097					NR_026922.1																						CGACACATCTCTCATCAGACG	0.547000													21	30					0	0	1	0	0
OR13J1	392309	broad.mit.edu	37	9	35869592	35869592	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:35869592G>T	ENST00000377981.2	-	1	869	c.807C>A	c.(805-807)atC>atA	p.I269I		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CCTCATCAGAGATGTGGGCTT	0.537000													22	31					3.62473e-10	4.08079e-10	1	1	0
ZNF329	79673	broad.mit.edu	37	19	58639978	58639978	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:58639978C>T	ENST00000598312.1	-	4	1126	c.893G>A	c.(892-894)cGa>cAa	p.R298Q	ZNF329_ENST00000358067.4_Missense_Mutation_p.R298Q	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GGATGAATTTCGGTTGAAGGT	0.438000													65	86					0	0	1	0	0
POLE3	54107	broad.mit.edu	37	9	116171188	116171188	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:116171188G>A	ENST00000374171.4	-	5	517	c.347C>T	c.(346-348)tCg>tTg	p.S116L	POLE3_ENST00000479871.1_5'UTR|POLE3_ENST00000374169.3_Missense_Mutation_p.S116L	NM_001278255.1|NM_017443.4	NP_001265184.1|NP_059139.3	Q9NRF9	DPOE3_HUMAN	polymerase (DNA directed), epsilon 3, accessory subunit	116					DNA replication|histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex	DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding			large_intestine(2)|lung(1)	3						ttgctcttccgagtctgtttt	0.453000													22	8					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	440038	440038	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:440038T>C	ENST00000256509.2	+	25	3865	c.3223T>C	c.(3223-3225)Ttt>Ctt	p.F1075L	CHL1_ENST00000397491.2_Missense_Mutation_p.F1059L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1059					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGATAGCATTTTTCAAGATGT	0.388000													35	47					0	0	1	0	0
TSC22D1	8848	broad.mit.edu	37	13	45150116	45150116	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:45150116C>A	ENST00000458659.2	-	1	585	c.95G>T	c.(94-96)gGc>gTc	p.G32V	TSC22D1_ENST00000501704.2_Missense_Mutation_p.G32V	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	32					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ACTACCGCTGCCCCTTCGAGG	0.632000													9	5					0.000442599	0.00045576	1	1	0
PIWIL1	9271	broad.mit.edu	37	12	130831078	130831078	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:130831078T>A	ENST00000245255.3	+	5	752	c.480T>A	c.(478-480)tgT>tgA	p.C160*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	160					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTGGAAAGTGTCATGCTTTTG	0.393000													24	43					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996002	19996002	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:19996002T>C	ENST00000391403.2	-	1	1876	c.1773A>G	c.(1771-1773)caA>caG	p.Q591Q		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	591						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGTCTTGCCTTTGTGGAGGGA	0.468000													53	67					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413831	105413831	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:105413831A>G	ENST00000333244.5	-	7	8076	c.7957T>C	c.(7957-7959)Ttc>Ctc	p.F2653L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2653						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)			GGCATCTTGAACTTGGGCATT	0.602000													177	249					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121353155	121353155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:121353155G>A	ENST00000314583.3	-	10	893	c.802C>T	c.(802-804)Cga>Tga	p.R268*	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Nonsense_Mutation_p.R231*	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	268					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		ACAGCCTTTCGCTCCTGTTGC	0.572000													44	51					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89100615	89100615	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:89100615G>A	ENST00000393525.3	+	0	1089																											TGCTTCAACAGCAACTGGATG	0.373000													5	98					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62223291	62223291	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:62223291C>T	ENST00000261517.5	-	50	6109	c.6036G>A	c.(6034-6036)tcG>tcA	p.S2012S	VPS13C_ENST00000395896.4_Silent_p.S2012S|VPS13C_ENST00000395898.3_Silent_p.S1969S|VPS13C_ENST00000249837.3_Silent_p.S1969S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2012					protein localization			p.S2012S(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGACAAACCTCGATGTTGCTC	0.438000													27	31					0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40182008	40182008	+	Missense_Mutation	SNP	A	A	G	rs150592938		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:40182008A>G	ENST00000360214.3	+	3	510	c.50A>G	c.(49-51)aAc>aGc	p.N17S	ETS2_ENST00000360938.3_Missense_Mutation_p.N17S	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	17					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CCTGTGGCTAACAGTTACAGA	0.368000													11	6					0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16419263	16419263	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:16419263C>T	ENST00000334133.4	-	5	1060	c.788G>A	c.(787-789)aGc>aAc	p.S263N	RFTN1_ENST00000432519.1_Missense_Mutation_p.S227N	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	263						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CAAGGGGTTGCTCTCCGGTCC	0.547000													39	34					0	0	1	0	0
FEM1C	56929	broad.mit.edu	37	5	114860257	114860257	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:114860257G>A	ENST00000274457.3	-	3	2163	c.1602C>T	c.(1600-1602)atC>atT	p.I534I		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	534						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TAAGAGCAGCGATATGCAGGG	0.418000													76	95					0	0	1	0	0
FXR1	8087	broad.mit.edu	37	3	180686040	180686040	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:180686040C>A	ENST00000357559.4	+	14	1784	c.1400C>A	c.(1399-1401)tCt>tAt	p.S467Y	FXR1_ENST00000305586.7_Missense_Mutation_p.S382Y|FXR1_ENST00000491062.1_Missense_Mutation_p.S418Y|FXR1_ENST00000445140.2_Missense_Mutation_p.S467Y|FXR1_ENST00000468861.1_Missense_Mutation_p.S382Y|FXR1_ENST00000480918.1_Missense_Mutation_p.S454Y	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	467					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TCCATCAGTTCTGGTAGTCTT	0.468000													21	20					3.51602e-12	4.06304e-12	1	1	0
EPB41L2	2037	broad.mit.edu	37	6	131188666	131188666	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:131188666T>G	ENST00000337057.3	-	16	2844	c.2663A>C	c.(2662-2664)gAa>gCa	p.E888A	EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530757.1_Missense_Mutation_p.E117A|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E735A|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E818A|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E630A|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E818A|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E888A|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E266A|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E630A|EPB41L2_ENST00000392427.3_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	888	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GGTGGAGATTTCTGTCCTTTG	0.423000													39	69					0	0	1	0	0
SCGB1D2	10647	broad.mit.edu	37	11	62010810	62010810	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:62010810C>A	ENST00000244926.3	+	2	203	c.105C>A	c.(103-105)ttC>ttA	p.F35L	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	35						extracellular space	binding			breast(1)|endometrium(1)|lung(1)	3						TAGACTTCTTCTTCATTAGTG	0.428000													33	37					2.46105e-21	3.181e-21	1	1	0
XPO4	64328	broad.mit.edu	37	13	21442798	21442798	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:21442798C>T	ENST00000400602.2	-	2	147	c.112G>A	c.(112-114)Gag>Aag	p.E38K	XPO4_ENST00000255305.6_Missense_Mutation_p.E38K|XPO4_ENST00000490513.1_5'UTR	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	38					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AATATGTGCTCTGCATGCTGG	0.323000													39	50					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21516880	21516880	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:21516880G>A	ENST00000222584.3	+	4	2080	c.1862G>A	c.(1861-1863)cGa>cAa	p.R621Q		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	621					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AAGAGGCTTCGAAGAGTTGCC	0.458000													22	23					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80773045	80773045	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:80773045C>T	ENST00000466387.1	+	15	2121	c.1397C>T	c.(1396-1398)gCt>gTt	p.A466V	CTNNA2_ENST00000402739.4_Missense_Mutation_p.A466V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A466V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A466V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A500V|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A145V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A466V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	466					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATCAATGCCGCTCTGACACTG	0.498000													21	15					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321195	79321195	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:79321195C>T	ENST00000428286.1	-	8	6118	c.4918G>A	c.(4918-4920)Gaa>Aaa	p.E1640K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1999K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1999					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.E1999K(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTTTCTTGTTCCCACTGATTT	0.408000													21	38					0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916303	86916303	+	Missense_Mutation	SNP	G	G	A	rs115120658	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:86916303G>A	ENST00000395184.1	+	9	1962	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.R406Q|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.R404Q	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	499					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		ACAAATGTTCGAAACATGAGC	0.502000													54	55					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9406188	9406188	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9406188C>T	ENST00000591998.1	-	6	2120	c.1892G>A	c.(1891-1893)cGa>cAa	p.R631Q	ZNF699_ENST00000308650.3_Missense_Mutation_p.R631Q			Q32M78	ZN699_HUMAN	zinc finger protein 699	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACATGCCTTCGAAAGTAGGC	0.428000													40	49					0	0	1	0	0
ABHD13	84945	broad.mit.edu	37	13	108882542	108882542	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:108882542G>A	ENST00000375898.3	+	2	1277	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	326						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTCTCCTGAAGAAATGGCAAA	0.348000													17	11					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136473239	136473239	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:136473239T>G	ENST00000264160.4	+	23	3121	c.2751T>G	c.(2749-2751)ttT>ttG	p.F917L	R3HDM1_ENST00000410054.1_Missense_Mutation_p.F862L|R3HDM1_ENST00000409478.1_Missense_Mutation_p.F789L|R3HDM1_ENST00000409606.1_Missense_Mutation_p.F918L|R3HDM1_ENST00000329971.3_Missense_Mutation_p.F788L	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	917							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TGCCCCAATTTTCTAGACCTT	0.478000													61	78					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158484870	158484870	+	Missense_Mutation	SNP	G	G	A	rs138792733	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:158484870G>A	ENST00000355585.4	+	9	1250	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	SYNJ2_ENST00000449859.2_Missense_Mutation_p.R320Q|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R392Q|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R392Q	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	392	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TGCCTGGACCGAACCAACACT	0.507000													48	60					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89936245	89936245	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:89936245G>T	ENST00000389297.4	+	20	2547	c.2296G>T	c.(2296-2298)Gaa>Taa	p.E766*	C7orf63_ENST00000316089.8_Nonsense_Mutation_p.E720*|C7orf63_ENST00000497910.1_Nonsense_Mutation_p.E748*	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	766							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AATATATGAAGAAATAAAATT	0.264000													11	11					0.00010058	0.000104397	1	1	0
SCN9A	6335	broad.mit.edu	37	2	167140973	167140973	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:167140973G>A	ENST00000303354.6	-	12	2307	c.1967C>T	c.(1966-1968)tCt>tTt	p.S656F	SCN9A_ENST00000409672.1_Intron|SCN9A_ENST00000409435.1_Missense_Mutation_p.S655F|SCN9A_ENST00000375387.4_Missense_Mutation_p.S656F|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	655						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCTGTCATCAGAAGTTGCCTT	0.537000													7	13					0	0	1	0	0
CXCR3	2833	broad.mit.edu	37	X	70836318	70836318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:70836318C>T	ENST00000373691.4	-	2	1308	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	CXCR3_ENST00000373693.3_Missense_Mutation_p.R335H	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	335					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GCAGCCCAGGCGCAAGAGCAG	0.627000													19	1					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23845930	23845930	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:23845930C>A	ENST00000359788.4	-	2	202	c.34G>T	c.(34-36)Gaa>Taa	p.E12*	ZNF675_ENST00000596211.1_Nonsense_Mutation_p.E12*|ZNF675_ENST00000601935.1_Nonsense_Mutation_p.E12*|ZNF675_ENST00000600313.1_Nonsense_Mutation_p.E12*|ZNF675_ENST00000599168.1_Nonsense_Mutation_p.E12*|ZNF675_ENST00000601010.1_Nonsense_Mutation_p.E12*	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	12	KRAB.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGAGAGAATTCTATGGCCACA	0.393000													59	89					1.44317e-28	1.96538e-28	1	1	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3583002	3583002	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:3583002G>A	ENST00000550383.1	-	11	1329	c.1141C>T	c.(1141-1143)Cca>Tca	p.P381S	P2RX5_ENST00000345901.3_Missense_Mutation_p.P357S|P2RX5_ENST00000225328.5_Missense_Mutation_p.P381S|P2RX5_ENST00000547178.1_Missense_Mutation_p.P380S|P2RX5_ENST00000552276.1_Missense_Mutation_p.P380S|P2RX5_ENST00000551178.1_Missense_Mutation_p.P356S|P2RX5_ENST00000552050.1_Missense_Mutation_p.P321S|P2RX5_ENST00000435558.1_Missense_Mutation_p.P381S																							AGCAGCCCTGGCCCAGATGTG	0.632000													14	26					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5045423	5045423	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:5045423T>G	ENST00000574788.1	+	24	3929	c.1699T>G	c.(1699-1701)Tat>Gat	p.Y567D	USP6_ENST00000304328.5_Missense_Mutation_p.Y250D|USP6_ENST00000250066.6_Missense_Mutation_p.Y567D|USP6_ENST00000332776.4_Missense_Mutation_p.Y567D			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	567					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GAGACATCTTTATGAACTCAA	0.418000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								48	65					0	0	1	0	0
FBXL3	26224	broad.mit.edu	37	13	77581686	77581686	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:77581686A>C	ENST00000355619.5	-	5	1205	c.881T>G	c.(880-882)tTt>tGt	p.F294C	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	294					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCATATAAAAAAAAATACAT	0.413000													28	19					0	0	1	0	0
ARG1	383	broad.mit.edu	37	6	131897859	131897859	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:131897859G>T	ENST00000368087.3	+	2	253	c.114G>T	c.(112-114)gaG>gaT	p.E38D	MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.E38D|ARG1_ENST00000498260.1_3'UTR			P05089	ARGI1_HUMAN	arginase 1	38					arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	GTCTGCTTGAGAAACTTAAAG	0.428000													27	31					1.38267e-23	1.81979e-23	1	1	0
NPAS2	4862	broad.mit.edu	37	2	101581385	101581385	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:101581385A>T	ENST00000335681.5	+	9	1065	c.780A>T	c.(778-780)aaA>aaT	p.K260N	NPAS2_ENST00000542504.1_Missense_Mutation_p.K325N	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	260	PAS 2.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGAATGGAAATTTTTATTTC	0.403000													13	25					0	0	1	0	0
RABEPK	10244	broad.mit.edu	37	9	127975775	127975775	+	Missense_Mutation	SNP	G	G	A	rs139424130	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:127975775G>A	ENST00000373544.1	+	5	504	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	RABEPK_ENST00000394124.4_Missense_Mutation_p.R113Q|RABEPK_ENST00000259460.8_Intron|RABEPK_ENST00000394125.4_Missense_Mutation_p.R113Q|RABEPK_ENST00000373538.3_Missense_Mutation_p.R113Q			Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	113					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TCAGGAAATCGAAATTGTCTA	0.423000													35	40					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27206661	27206661	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:27206661T>G	ENST00000380036.4	+	15	2888	c.2446T>G	c.(2446-2448)Tat>Gat	p.Y816D	TEK_ENST00000406359.4_Missense_Mutation_p.Y773D|TEK_ENST00000519097.1_Missense_Mutation_p.Y668D	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	816					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCCTACAATTTATCCAGTGCT	0.443000													19	16					0	0	1	0	0
KPNA3	3839	broad.mit.edu	37	13	50293913	50293913	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:50293913T>A	ENST00000261667.3	-	10	1183	c.769A>T	c.(769-771)Aac>Tac	p.N257Y		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	257					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TAACTTACGTTTATATCTGTA	0.313000													20	17					0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166740315	166740315	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:166740315G>A	ENST00000243344.7	-	26	3810	c.3673C>T	c.(3673-3675)Cgt>Tgt	p.R1225C	TTC21B_ENST00000536175.1_Missense_Mutation_p.R163C	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1225						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTATTATGACGCAGGCACCGT	0.363000													21	28					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12461518	12461518	+	Missense_Mutation	SNP	T	T	G	rs138896390		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:12461518T>G	ENST00000242804.4	-	6	1463	c.881A>C	c.(880-882)aAa>aCa	p.K294T	ZNF442_ENST00000438182.1_Missense_Mutation_p.K225T	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCGTTTACATTTATAGGGTTT	0.433000													93	75					0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	266004	266004	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:266004C>T	ENST00000419098.1	-	4	652	c.642G>A	c.(640-642)gaG>gaA	p.E214E		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TATGAATTATCTCATATTCAT	0.358000													15	9					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076714	9076714	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9076714C>A	ENST00000397910.4	-	3	10935	c.10732G>T	c.(10732-10734)Gaa>Taa	p.E3578*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3579	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						GAAGGGTGTTCTGTAGAAGTT	0.502000													67	65					6.1719e-39	8.6595e-39	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113170848	113170848	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:113170848A>G	ENST00000401783.2	-	38	7368	c.7032T>C	c.(7030-7032)gtT>gtC	p.V2344V	SVEP1_ENST00000297826.5_Silent_p.V270V|SVEP1_ENST00000374469.1_Silent_p.V2321V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2344	Sushi 16.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAAATGTCACAACTCCTACCT	0.488000													27	32					0	0	1	0	0
DNAJC3	5611	broad.mit.edu	37	13	96439348	96439348	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:96439348G>T	ENST00000602402.1	+	11	1413	c.1296G>T	c.(1294-1296)aaG>aaT	p.K432N	DNAJC3_ENST00000376795.6_Missense_Mutation_p.K381N	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	432	J.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			AAGAAGAAAAGAAAAAAGCTG	0.378000													58	59					2.14255e-21	2.77335e-21	1	1	0
RPS6KB1	6198	broad.mit.edu	37	17	58022809	58022809	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:58022809G>T	ENST00000225577.4	+	14	1291	c.1270G>T	c.(1270-1272)Gaa>Taa	p.E424*	RPS6KB1_ENST00000443572.2_Nonsense_Mutation_p.E401*|RPS6KB1_ENST00000393021.3_Nonsense_Mutation_p.E371*|RPS6KB1_ENST00000406116.3_Nonsense_Mutation_p.E424*|RP11-178C3.1_ENST00000591035.1_Nonsense_Mutation_p.E27*	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	424	Autoinhibitory domain.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			AAGTGTGAAAGAAAAGTTTTC	0.378000													4	12					0.00909568	0.00922191	1	1	0
NAT1	9	broad.mit.edu	37	8	18080421	18080421	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:18080421A>G	ENST00000539092.1	+	5	1556	c.865A>G	c.(865-867)Act>Gct	p.T289A	NAT1_ENST00000535084.1_Missense_Mutation_p.T289A|NAT1_ENST00000520546.1_Missense_Mutation_p.T289A|NAT1_ENST00000545197.1_Missense_Mutation_p.T351A|NAT1_ENST00000517492.1_Missense_Mutation_p.T289A|NAT1_ENST00000541942.1_Missense_Mutation_p.T289A|NAT1_ENST00000518029.1_Missense_Mutation_p.T289A|NAT1_ENST00000307719.4_Missense_Mutation_p.T289A	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	289					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		TAGATTTTTTACTATTTAGAA	0.343000													23	19					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8181656	8181656	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:8181656C>T	ENST00000600128.1	-	29	4028	c.3614G>A	c.(3613-3615)cGc>cAc	p.R1205H	FBN3_ENST00000601739.1_Missense_Mutation_p.R1205H|FBN3_ENST00000270509.2_Missense_Mutation_p.R1205H			Q75N90	FBN3_HUMAN	fibrillin 3	1205	EGF-like 17.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTCACAAACGCGGGGGTTCTC	0.592000													37	38					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56878113	56878113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:56878113C>T	ENST00000257287.4	+	21	2888	c.2764C>T	c.(2764-2766)Cga>Tga	p.R922*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	922					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAGACATCTTCGAGAAAGAGT	0.383000													14	38					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119911853	119911853	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:119911853C>T	ENST00000464295.1	-	5	852	c.407G>A	c.(406-408)gGc>gAc	p.G136D	GPR156_ENST00000315843.3_Missense_Mutation_p.G136D|GPR156_ENST00000461057.1_Missense_Mutation_p.G136D			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	136						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CAGAATGGGGCCAAACACAAG	0.517000													42	24					0	0	1	0	0
TWF1	5756	broad.mit.edu	37	12	44190783	44190783	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:44190783C>A	ENST00000395510.2	-	8	1007	c.878G>T	c.(877-879)aGa>aTa	p.R293I	TWF1_ENST00000548315.1_Missense_Mutation_p.R300I|TWF1_ENST00000325127.4_Missense_Mutation_p.R327I|TWF1_ENST00000552521.1_Missense_Mutation_p.R195I	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	293	ADF-H 2.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		GGCTACCTTTCTAATTACATC	0.328000													35	38					1.414e-09	1.57957e-09	1	1	0
NUDT1	4521	broad.mit.edu	37	7	2284264	2284264	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:2284264C>T	ENST00000397049.1	+	3	226	c.124C>T	c.(124-126)Ctc>Ttc	p.L42F	NUDT1_ENST00000339737.2_Missense_Mutation_p.L19F|NUDT1_ENST00000343985.4_Missense_Mutation_p.L42F|NUDT1_ENST00000397046.1_Missense_Mutation_p.L19F|NUDT1_ENST00000397048.1_Missense_Mutation_p.L42F|NUDT1_ENST00000356714.1_Missense_Mutation_p.L19F	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	60					DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding			large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		TCAGCGAGTTCTCCTGGGCAT	0.607000								Modulation of nucleotide pools					18	33					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210194442	210194442	+	Silent	SNP	G	G	A	rs141974517		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:210194442G>A	ENST00000537238.1	+	5	562	c.171G>A	c.(169-171)gcG>gcA	p.A57A	SYT14_ENST00000534859.1_Silent_p.A95A|SYT14_ENST00000422431.1_Silent_p.A140A|SYT14_ENST00000367015.1_Silent_p.A57A|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Silent_p.A95A|SYT14_ENST00000472886.1_Silent_p.A95A|SYT14_ENST00000367019.1_Silent_p.A95A	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	95						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAGATGAAGCGCTGGGTAAAT	0.393000													38	37					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836996	43836996	+	Missense_Mutation	SNP	C	C	T	rs145941667		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:43836996C>T	ENST00000372781.3	+	2	1115	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M	SEMG1_ENST00000244069.6_Missense_Mutation_p.T293M	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCTTCAAGTACGGAAGAAAGA	0.408000													40	42					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208315684	208315684	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:208315684G>A	ENST00000367033.3	-	4	2253	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	499	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGTCTCTCAGACATGACGTA	0.502000													37	33					0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687241	8687241	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:8687241G>T	ENST00000299663.3	-	6	818	c.653C>A	c.(652-654)tCt>tAt	p.S218Y	CLEC4E_ENST00000545274.1_Missense_Mutation_p.S173Y|CLEC4E_ENST00000446457.2_3'UTR	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	218						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TTCTTAAAGAGATTTTCCTTT	0.403000													12	28					0.010729	0.0108738	1	1	0
AP3B2	8120	broad.mit.edu	37	15	83331576	83331576	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:83331576G>T	ENST00000261722.3	-	22	2853	c.2646C>A	c.(2644-2646)ttC>ttA	p.F882L	AP3B2_ENST00000535348.1_Missense_Mutation_p.F850L|AP3B2_ENST00000535359.1_Missense_Mutation_p.F901L|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	882					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GATCCCCGGAGAAAGGTTGGC	0.617000													14	14					0.000219431	0.00022692	1	1	0
C9orf41	138199	broad.mit.edu	37	9	77631215	77631215	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:77631215C>A	ENST00000376834.3	-	3	711	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	C9orf41_ENST00000376837.3_Nonsense_Mutation_p.E187*	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	187										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						TTTAAAATTTCTTTAATGATT	0.333000													33	57					3.86903e-22	5.0338e-22	1	1	0
TDP1	55775	broad.mit.edu	37	14	90429835	90429835	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:90429835G>T	ENST00000335725.4	+	3	627	c.377G>T	c.(376-378)aGa>aTa	p.R126I	TDP1_ENST00000555880.1_Missense_Mutation_p.R126I|TDP1_ENST00000393454.2_Missense_Mutation_p.R126I|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393452.3_Missense_Mutation_p.R126I	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	126					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		ACTGCCCAAAGAACTGAAAAT	0.527000								Repair of DNA-protein crosslinks					20	36					8.00594e-06	8.47305e-06	1	1	0
PCNT	5116	broad.mit.edu	37	21	47810624	47810624	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:47810624G>T	ENST00000359568.5	+	20	3987	c.3880G>T	c.(3880-3882)Gaa>Taa	p.E1294*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1294					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTTTGAAAAAGAATTTAGTTT	0.428000													23	30					1.55795e-14	1.85956e-14	1	1	0
WNT7A	7476	broad.mit.edu	37	3	13896086	13896086	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:13896086C>A	ENST00000285018.4	-	3	817	c.513G>T	c.(511-513)gaG>gaT	p.E171D		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	171					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	p.E171D(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCTGCTTGATCTCCCGGGCAT	0.632000													104	140					4.49162e-49	6.3911e-49	1	1	0
NCKAP1	10787	broad.mit.edu	37	2	183826988	183826988	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:183826988G>A	ENST00000361354.4	-	18	2152	c.1780C>T	c.(1780-1782)Cgc>Tgc	p.R594C	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R600C	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAAAGACTGCGATCTCCAATA	0.343000													22	18					0	0	1	0	0
JAGN1	84522	broad.mit.edu	37	3	9934846	9934846	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:9934846G>A	ENST00000307768.4	+	2	506	c.337G>A	c.(337-339)Gct>Act	p.A113T		NM_032492.3	NP_115881.3	Q8N5M9	JAGN1_HUMAN	jagunal homolog 1 (Drosophila)	113						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					CTTTTCCATCGCTCCACTCAT	0.527000													36	31					0	0	1	0	0
SS18L1	26039	broad.mit.edu	37	20	60734978	60734978	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:60734978C>T	ENST00000331758.3	+	3	218	c.192C>T	c.(190-192)atC>atT	p.I64I	SS18L1_ENST00000370848.4_Silent_p.I67I|SS18L1_ENST00000421564.1_Silent_p.I64I	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	64	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			TGGCCACGATCGCAGACTCCA	0.617000			T	SSX1	synovial sarcoma								14	26					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70793223	70793223	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:70793223G>A	ENST00000358731.4	+	13	2189	c.1926G>A	c.(1924-1926)aaG>aaA	p.K642K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	642					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAGAGAGCAAGAATTCACATT	0.348000													42	40					0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46580601	46580601	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:46580601A>C	ENST00000395905.3	-	4	816	c.424T>G	c.(424-426)Tta>Gta	p.L142V	LRRC2_ENST00000296144.3_Missense_Mutation_p.L142V	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	142										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GCTTGAAATAACTGAATATAT	0.413000													25	41					0	0	1	0	0
PBLD	64081	broad.mit.edu	37	10	70048385	70048385	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:70048385C>A	ENST00000358769.2	-	8	748	c.546G>T	c.(544-546)gaG>gaT	p.E182D	PBLD_ENST00000309049.4_Missense_Mutation_p.E182D|PBLD_ENST00000495025.2_Missense_Mutation_p.E182D|PBLD_ENST00000432941.1_Missense_Mutation_p.E182D|PBLD_ENST00000336578.1_Missense_Mutation_p.E149D	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	182					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCAGCAGATTCTCCGTGTTCA	0.458000													21	30					2.37509e-13	2.78749e-13	1	1	0
ADPRHL1	113622	broad.mit.edu	37	13	114078645	114078645	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:114078645G>A	ENST00000356501.4	-	6	723	c.548C>T	c.(547-549)tCg>tTg	p.S183L	ADPRHL1_ENST00000375418.3_Missense_Mutation_p.S265L	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	265					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TCGACCTTCCGAGCTCCACTT	0.607000													46	35					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440543	99440543	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:99440543G>A	ENST00000287042.4	+	2	686	c.336G>A	c.(334-336)gaG>gaA	p.E112E	KCNS2_ENST00000521839.1_Silent_p.E112E	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	112						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GCATCAACGAGTTCTTCATTG	0.552000													47	55					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73635811	73635811	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:73635811C>T	ENST00000261917.3	-	2	2117	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	375					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCGGACAATGCGCAGGGCCCG	0.537000													23	33					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131929092	131929092	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:131929092G>A	ENST00000403834.3	-	12	1388	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	MED23_ENST00000539158.1_Silent_p.F399F|MED23_ENST00000368058.1_Silent_p.F405F|MED23_ENST00000540546.1_Silent_p.F405F|MED23_ENST00000368053.4_Silent_p.F405F|MED23_ENST00000354577.4_Silent_p.F405F|MED23_ENST00000545957.1_Intron|MED23_ENST00000368060.3_Silent_p.F399F|MED23_ENST00000368068.3_Silent_p.F399F			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	399					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ATAGCAAGTCGAAGAGCTTCA	0.343000													29	33					0	0	1	0	0
GALP	85569	broad.mit.edu	37	19	56693570	56693570	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:56693570G>T	ENST00000357330.2	+	4	248	c.166G>T	c.(166-168)Gac>Tac	p.D56Y	GALP_ENST00000440823.1_Missense_Mutation_p.K39N|GALP_ENST00000590002.1_Missense_Mutation_p.K39N	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	56					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		GGGTGACCAAGACGGAAAGAG	0.562000													31	26					2.61193e-14	3.10994e-14	1	1	0
SLC25A31	83447	broad.mit.edu	37	4	128651823	128651823	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:128651823C>T	ENST00000281154.4	+	1	291	c.123C>T	c.(121-123)atC>atT	p.I41I		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	41					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TGGCGCCCATCGAGCGGGTGA	0.642000													28	39					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23830450	23830450	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:23830450G>A	ENST00000354639.3	+	22	3040	c.2576G>A	c.(2575-2577)cGa>cAa	p.R859Q	STK31_ENST00000433467.2_Missense_Mutation_p.R882Q|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.R882Q|STK31_ENST00000428484.1_Missense_Mutation_p.R859Q	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	882	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGAGTCAGCGAGCCTCGGTG	0.383000													31	35					0	0	1	0	0
MRPL27	51264	broad.mit.edu	37	17	48447889	48447889	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:48447889C>A	ENST00000442592.3	-	2	135	c.99G>T	c.(97-99)aaG>aaT	p.K33N	MRPL27_ENST00000511860.1_5'UTR|MRPL27_ENST00000225969.4_Missense_Mutation_p.K33N|MRPL27_ENST00000507088.1_5'UTR|MRPL27_ENST00000503633.1_Missense_Mutation_p.K33N			Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	33					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			CACCCGACTTCTTGGATGCGT	0.502000													116	129					8.73416e-63	1.25382e-62	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178928310	178928310	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:178928310C>T	ENST00000263967.3	+	9	1653	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	499					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GCCAATTGGTCTGTATCCCGA	0.413000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			43	36					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662548	99662548	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:99662548A>G	ENST00000373034.4	-	1	2723	c.1048T>C	c.(1048-1050)Tca>Cca	p.S350P	PCDH19_ENST00000420881.2_Missense_Mutation_p.S350P|PCDH19_ENST00000255531.7_Missense_Mutation_p.S350P	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	350	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTGTTGACTGACAGCAGGTTG	0.617000													34	6					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3781624	3781624	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:3781624G>A	ENST00000310132.6	-	8	1121	c.723C>T	c.(721-723)atC>atT	p.I241I	MATK_ENST00000395045.2_Silent_p.I242I|MATK_ENST00000395040.2_Silent_p.I200I|MATK_ENST00000585778.1_Silent_p.I241I	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	241	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCTCTCCGATCTGTGCTC	0.552000													37	51					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72945355	72945355	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:72945355A>G	ENST00000264839.7	+	8	1781	c.1781A>G	c.(1780-1782)gAc>gGc	p.D594G	RIMS1_ENST00000348717.5_Missense_Mutation_p.D594G|RIMS1_ENST00000401910.3_Missense_Mutation_p.D68G|RIMS1_ENST00000517960.1_Missense_Mutation_p.D594G|RIMS1_ENST00000521978.1_Missense_Mutation_p.D594G|RIMS1_ENST00000518273.1_Missense_Mutation_p.D594G|RIMS1_ENST00000425662.2_5'UTR|RIMS1_ENST00000520567.1_Missense_Mutation_p.D594G|RIMS1_ENST00000523963.1_Missense_Mutation_p.D68G|RIMS1_ENST00000517827.1_Missense_Mutation_p.D53G|RIMS1_ENST00000491071.2_Missense_Mutation_p.D594G|RIMS1_ENST00000522291.1_Missense_Mutation_p.D594G			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	594					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAAGAGGGGGACCGATTAATT	0.368000													4	9					0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6927646	6927646	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:6927646G>A	ENST00000011653.4	+	8	1474	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	406					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|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein 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)				GGGGGGCGTCGCCGGCCTCCT	0.617000													33	58					0	0	1	0	0
ADAL	161823	broad.mit.edu	37	15	43628007	43628007	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:43628007G>T	ENST00000422466.2	+	5	751	c.177G>T	c.(175-177)aaG>aaT	p.K59N	ADAL_ENST00000428046.3_Missense_Mutation_p.K59N|ADAL_ENST00000389651.4_Missense_Mutation_p.K59N|ADAL_ENST00000562188.1_Missense_Mutation_p.K59N			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	59					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		ACAAGGGAAAGAAAAGAACTT	0.363000													39	75					1.06522e-23	1.40371e-23	1	1	0
NPAS3	64067	broad.mit.edu	37	14	34270183	34270183	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:34270183C>T	ENST00000346562.2	+	11	2648	c.2574C>T	c.(2572-2574)agC>agT	p.S858S	NPAS3_ENST00000548645.1_Silent_p.S860S|NPAS3_ENST00000356141.4_Silent_p.S890S|NPAS3_ENST00000357798.5_Silent_p.S877S|NPAS3_ENST00000551492.1_Silent_p.S895S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	890					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCGCAGTGAGCGCAGCTAGCC	0.657000													7	7					0	0	1	0	0
CEP55	55165	broad.mit.edu	37	10	95276708	95276708	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:95276708G>T	ENST00000371485.3	+	6	1000	c.696G>T	c.(694-696)gaG>gaT	p.E232D		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	232	Interaction with TSG101.				cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				TTCAAGAAGAGAAGCAGAAAT	0.333000													26	35					8.24728e-16	1.0044e-15	1	1	0
WHSC1	7468	broad.mit.edu	37	4	1976696	1976696	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:1976696G>A	ENST00000382895.3	+	21	3910	c.3479G>A	c.(3478-3480)cGt>cAt	p.R1160H	WHSC1_ENST00000508803.1_Missense_Mutation_p.R1160H|WHSC1_ENST00000382891.5_Missense_Mutation_p.R1160H|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.R508H|WHSC1_ENST00000382892.2_Missense_Mutation_p.R1160H	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1160	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGACACTCGTGTGGGCCTG	0.567000			T	IGH@	MM								86	95					0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58773191	58773191	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:58773191C>T	ENST00000269829.4	+	7	1693	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	ZNF544_ENST00000596652.1_Missense_Mutation_p.P407S|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.P379S|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Missense_Mutation_p.P379S|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.P265S|ZNF544_ENST00000415203.2_Missense_Mutation_p.P379S	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TGGAGAGAAGCCCTATGAGTG	0.448000													35	47					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75290150	75290150	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:75290150T>C	ENST00000339859.4	-	13	1679	c.1579A>G	c.(1579-1581)Aat>Gat	p.N527D	USP54_ENST00000319786.7_Missense_Mutation_p.N527D|USP54_ENST00000408019.1_Missense_Mutation_p.N527D|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.N377D|USP54_ENST00000394811.2_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	527					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GAGCCTACATTGGTCTGAGAA	0.498000													24	26					0	0	1	0	0
FAM74A3	728495	broad.mit.edu	37	9	40716244	40716244	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:40716244G>T	ENST00000604146.1	+	0	583					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTTTCTTTGGATAATTATTG	0.418000													4	92					0.00024832	0.000256496	1	1	0
GRIA4	2893	broad.mit.edu	37	11	105483056	105483056	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:105483056A>G	ENST00000393127.2	+	3	588	c.142A>G	c.(142-144)Att>Gtt	p.I48V	GRIA4_ENST00000282499.5_Missense_Mutation_p.I48V|GRIA4_ENST00000428631.2_Missense_Mutation_p.I48V|GRIA4_ENST00000393125.2_Missense_Mutation_p.I48V|GRIA4_ENST00000527669.1_Missense_Mutation_p.I48V|GRIA4_ENST00000530497.1_Missense_Mutation_p.I48V|GRIA4_ENST00000525187.1_Missense_Mutation_p.I48V	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	48					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TCGATTAGCAATTTTTCTTCA	0.408000													23	36					0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011385	138011385	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:138011385C>T	ENST00000252854.4	+	6	952	c.765C>T	c.(763-765)ttC>ttT	p.F255F	OLFM1_ENST00000371796.3_Silent_p.F246F|OLFM1_ENST00000371793.3_Silent_p.F273F	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	273	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ACAACCGCTTCGTACGTGAGT	0.567000													42	49					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134112	128134112	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:128134112C>T	ENST00000368250.1	-	5	1935	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	THEMIS_ENST00000543064.1_Silent_p.P558P|THEMIS_ENST00000368248.2_Silent_p.P558P|THEMIS_ENST00000537166.1_Silent_p.P523P			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	558	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGGGGTGTTTCGGAGGGCGAG	0.483000													57	85					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5182252	5182252	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:5182252G>A	ENST00000274181.7	+	4	735	c.597G>A	c.(595-597)tcG>tcA	p.S199S	ADAMTS16_ENST00000511368.1_Silent_p.S199S	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	199					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AAGGCAGCTCGCCATCCCACG	0.567000													31	31					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7520855	7520855	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:7520855C>T	ENST00000338316.4	+	3	502	c.413C>T	c.(412-414)tCg>tTg	p.S138L		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	138					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCGTAGGTATCGTTCTTCCTC	0.493000													22	37					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133476623	133476623	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:133476623G>T	ENST00000402696.3	+	8	1366	c.881G>T	c.(880-882)gGc>gTc	p.G294V	TF_ENST00000264998.3_Missense_Mutation_p.G167V	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	294	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GAACATTTTGGCAAAGACAAA	0.438000													13	26					0.00010058	0.000104397	1	1	0
TDGF1	6997	broad.mit.edu	37	3	46621501	46621501	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:46621501C>T	ENST00000296145.5	+	5	1132	c.399C>T	c.(397-399)tgC>tgT	p.C133C	TDGF1_ENST00000542931.1_Silent_p.C117C|LRRC2_ENST00000296144.3_5'UTR	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	133					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TGTGTAAATGCTGGCACGGTC	0.532000													40	44					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160964212	160964212	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:160964212C>T	ENST00000283249.2	-	14	2483	c.2246G>A	c.(2245-2247)cGa>cAa	p.R749Q	ITGB6_ENST00000409967.2_Missense_Mutation_p.R642Q|ITGB6_ENST00000428609.2_Missense_Mutation_p.R707Q|ITGB6_ENST00000409872.1_Missense_Mutation_p.R749Q	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	749	Interaction with HAX1.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GGCTTTTGATCGTTCTGCTTC	0.473000													58	58					0	0	1	0	0
CLNK	116449	broad.mit.edu	37	4	10515185	10515185	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:10515185C>A	ENST00000226951.6	-	16	1048	c.809G>T	c.(808-810)aGa>aTa	p.R270I	CLNK_ENST00000515667.1_Missense_Mutation_p.R8I	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	270					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AGGCTGGCATCTCTGAGGAGA	0.493000													10	4					4.68919e-08	5.13184e-08	1	1	0
CCDC88A	55704	broad.mit.edu	37	2	55561464	55561464	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:55561464C>A	ENST00000436346.1	-	15	3334	c.2493G>T	c.(2491-2493)aaG>aaT	p.K831N	AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.K831N|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.K831N|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.K831N	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	831					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CCAATTGTTTCTTATCCTTTT	0.313000													28	43					1.17739e-12	1.36828e-12	1	1	0
DSCR4	10281	broad.mit.edu	37	21	39492502	39492502	+	Splice_Site	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:39492502T>G	ENST00000328264.3	-	2	233	c.129A>C	c.(127-129)agA>agC	p.R43S	DSCR4_ENST00000398948.1_Splice_Site_p.R43S	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	43										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						ttttttcttctctaggaaaat	0.413000													32	28					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45716144	45716144	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:45716144G>T	ENST00000310806.4	-	2	804	c.346C>A	c.(346-348)Cta>Ata	p.L116I		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	116					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTCATTCTTAGAAATATTTTT	0.358000													28	41					1.17739e-12	1.36828e-12	1	1	0
ARVCF	421	broad.mit.edu	37	22	19978249	19978249	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:19978249G>A	ENST00000263207.3	-	3	360	c.69C>T	c.(67-69)ttC>ttT	p.F23F	ARVCF_ENST00000406259.1_Silent_p.F23F	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	23					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCAGCCTCTCGAAGCGGGCCT	0.667000													3	7					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81743820	81743820	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:81743820C>T	ENST00000555447.1	-	6	2247	c.1835G>A	c.(1834-1836)cGc>cAc	p.R612H	STON2_ENST00000267540.2_Missense_Mutation_p.R612H	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	612	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GAGGCCCAGGCGGCACTCTGC	0.522000													30	41					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128712032	128712032	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:128712032G>A	ENST00000265068.5	-	2	283	c.116C>T	c.(115-117)gCc>gTc	p.A39V	KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000511438.1_Missense_Mutation_p.A39V	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	39										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CCTGGCCTTGGCCTTCAGGTG	0.612000													38	60					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186671361	186671361	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:186671361A>C	ENST00000343098.5	+	17	17595	c.17595A>C	c.(17593-17595)gaA>gaC	p.E5865D	FSIP2_ENST00000424728.1_Missense_Mutation_p.E5776D	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACCAACGAGAAAGTAAACCTG	0.348000													30	30					0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35921153	35921153	+	Missense_Mutation	SNP	C	C	T	rs17851540		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:35921153C>T	ENST00000397367.2	-	2	196	c.70G>A	c.(70-72)Gac>Aac	p.D24N	CAPSL_ENST00000397366.1_Missense_Mutation_p.D24N|CAPSL_ENST00000514524.1_Missense_Mutation_p.D24N	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	24				D -> N (in Ref. 2; AAH17586).		cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCAATGGGGTCGGTGGCCGTG	0.587000													42	45					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115220579	115220579	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:115220579C>T	ENST00000369538.3	-	8	1310	c.1263G>A	c.(1261-1263)ttG>ttA	p.L421L	AMPD1_ENST00000353928.6_Silent_p.L392L|AMPD1_ENST00000520113.2_Silent_p.L425L	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	392					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TGTCTGTCTTCAAGTAGAGGT	0.428000													49	48					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162660965	162660965	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:162660965G>A	ENST00000375514.5	+	4	457	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	SLC4A10_ENST00000272716.5_Missense_Mutation_p.R46Q|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R46Q|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Missense_Mutation_p.R46Q|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R46Q|SLC4A10_ENST00000446997.1_Missense_Mutation_p.R46Q	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	46					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAAGGTCATCGAACACTATTT	0.388000													18	27					0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57256434	57256434	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:57256434A>G	ENST00000278426.3	-	13	1719	c.1364T>C	c.(1363-1365)gTt>gCt	p.V455A	SLC43A1_ENST00000528450.1_Missense_Mutation_p.V455A	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	455					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GAAACCTCGAACAATGGTGTG	0.507000													39	56					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	122004417	122004417	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:122004417C>T	ENST00000265922.3	-	4	948	c.487G>A	c.(487-489)Gct>Act	p.A163T	BRINP1_ENST00000373964.2_Missense_Mutation_p.A163T	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	163																	TGGTGCAGAGCTTCAACACTT	0.483000													40	34					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24582988	24582988	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:24582988C>A	ENST00000319715.4	+	18	5033	c.4601C>A	c.(4600-4602)tCt>tAt	p.S1534Y	RBBP6_ENST00000381039.3_Missense_Mutation_p.S694Y|RBBP6_ENST00000348022.2_Missense_Mutation_p.S1500Y	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1534	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAAAGTAATTCTAGTCCCTCA	0.368000													30	27					2.12542e-12	2.46249e-12	1	1	0
TECTB	6975	broad.mit.edu	37	10	114045915	114045915	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:114045915C>T	ENST00000369422.3	+	3	354	c.354C>T	c.(352-354)tcC>tcT	p.S118S		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	118	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TCAACTACTCCTTCTCCTGCA	0.498000													43	43					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54799708	54799708	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:54799708G>T	ENST00000293379.4	-	10	1170	c.909C>A	c.(907-909)gtC>gtA	p.V303V	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	303					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TAAGGATGGTGACCTGGGAGA	0.527000													24	49					3.28513e-13	3.84286e-13	1	1	0
C1orf63	57035	broad.mit.edu	37	1	25570093	25570093	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:25570093C>T	ENST00000243189.7	-	4	980	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	C1orf63_ENST00000417642.2_Missense_Mutation_p.R236Q	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	235										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATTGGGATTTCGAGTTCCATC	0.338000													33	39					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60212987	60212987	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:60212987C>A	ENST00000267484.5	-	2	789	c.454G>T	c.(454-456)Gat>Tat	p.D152Y		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	152					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CCAGGCACATCTGGTAAGGAG	0.488000													27	28					1.74197e-06	1.86321e-06	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20996988	20996988	+	Missense_Mutation	SNP	C	C	T	rs150141933		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:20996988C>T	ENST00000261383.3	-	48	7075	c.7076G>A	c.(7075-7077)cGa>cAa	p.R2359Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2359					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)		GAAGAGGCTTCGAATGTTATC	0.453000													4	124					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455266	70455266	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:70455266C>A	ENST00000503640.1	-	6	1463	c.1408G>T	c.(1408-1410)Gga>Tga	p.G470*	UGT2A1_ENST00000512704.1_Nonsense_Mutation_p.G426*|UGT2A1_ENST00000514019.1_Nonsense_Mutation_p.G636*|UGT2A2_ENST00000457664.2_Nonsense_Mutation_p.G479*|UGT2A1_ENST00000286604.4_Nonsense_Mutation_p.G470*	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	470					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						TGCTTGGCTCCTTTGTGGCGC	0.488000													79	76					7.2426e-40	1.01724e-39	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20766693	20766693	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:20766693A>G	ENST00000404938.2	+	22	3308	c.2656A>G	c.(2656-2658)Act>Gct	p.T886A	ABCB5_ENST00000258738.6_Missense_Mutation_p.T441A	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	441					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAATATACGTACTATAGTGTC	0.318000													30	26					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178299082	178299082	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:178299082A>C	ENST00000264167.4	+	3	524	c.378A>C	c.(376-378)ccA>ccC	p.P126P	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	126					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TGGGTTTACCAACATTTAAAG	0.313000													22	28					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182856269	182856269	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:182856269C>T	ENST00000367549.3	+	28	3623	c.3513C>T	c.(3511-3513)agC>agT	p.S1171S	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1171	NTD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ACAATGGAAGCGGATATAGAA	0.502000													42	80					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39079146	39079146	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:39079146C>A	ENST00000379907.4	+	13	1378	c.1251C>A	c.(1249-1251)agC>agA	p.S417R	ADAM32_ENST00000519315.1_Missense_Mutation_p.S311R|ADAM32_ENST00000437682.2_Missense_Mutation_p.S318R	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	417	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GACCTGCAAGCTGTTGTGATT	0.338000													13	13					2.68362e-12	3.10248e-12	1	1	0
FLT4	2324	broad.mit.edu	37	5	180041089	180041089	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:180041089G>T	ENST00000261937.6	-	24	3388	c.3310C>A	c.(3310-3312)Ctc>Atc	p.L1104I	FLT4_ENST00000393347.3_Missense_Mutation_p.L1104I|FLT4_ENST00000502649.1_Missense_Mutation_p.L1104I	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1104	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATCTCCCAGAGAAGCACCCCA	0.627000													35	47					3.03874e-20	3.89651e-20	1	1	0
MLH3	27030	broad.mit.edu	37	14	75513214	75513214	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:75513214C>T	ENST00000355774.2	-	2	3360	c.3145G>A	c.(3145-3147)Gat>Aat	p.D1049N	MLH3_ENST00000544985.1_Missense_Mutation_p.D44N|MLH3_ENST00000556740.1_Missense_Mutation_p.D1049N|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.D1049N|MLH3_ENST00000238662.7_Missense_Mutation_p.D1049N|MLH3_ENST00000380968.2_5'UTR	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1049					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		AGGGCTACATCGAAATGCCGC	0.433000								Mismatch excision repair (MMR)					52	52					0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691554	153691554	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:153691554G>A	ENST00000304337.2	-	2	1423	c.603C>T	c.(601-603)ggC>ggT	p.G201G		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	201	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AACATGTTTCGCCTTTAAATG	0.343000													53	68					0	0	1	0	0
SLC46A1	113235	broad.mit.edu	37	17	26732224	26732224	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:26732224C>T	ENST00000440501.1	-	2	586	c.491G>A	c.(490-492)aGc>aAc	p.S164N	SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Missense_Mutation_p.S164N	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	164					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	GGACGCAAAGCTAGCAGCCAG	0.637000													8	14					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23999032	23999032	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:23999032C>T	ENST00000546136.1	-	2	329	c.327G>A	c.(325-327)gaG>gaA	p.E109E	SOX5_ENST00000451604.2_Silent_p.E122E|SOX5_ENST00000545921.1_Silent_p.E112E|SOX5_ENST00000441133.2_Silent_p.E87E|SOX5_ENST00000541847.1_Silent_p.E112E|SOX5_ENST00000309359.1_Silent_p.E109E|SOX5_ENST00000541536.1_Silent_p.E109E|SOX5_ENST00000381381.2_Silent_p.E109E|SOX5_ENST00000537393.1_Silent_p.E87E			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	122					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TAGACAAGGACTCGCCACTCT	0.493000													45	51					0	0	1	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67068531	67068531	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:67068531G>A	ENST00000447274.2	+	11	2058	c.883G>A	c.(883-885)Gac>Aac	p.D295N	ANKRD13D_ENST00000514166.1_Missense_Mutation_p.D295N|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.D295N|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.D32N|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.D382N			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	295										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCCCATCATCGACCTAATGGC	0.597000													21	32					0	0	1	0	0
LYSMD2	256586	broad.mit.edu	37	15	52017279	52017279	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:52017279C>A	ENST00000267838.3	-	2	827	c.313G>T	c.(313-315)Gat>Tat	p.D105Y	LYSMD2_ENST00000454181.2_Missense_Mutation_p.D14Y|LYSMD2_ENST00000558126.1_Intron|LYSMD2_ENST00000560491.1_Missense_Mutation_p.D14Y	NM_153374.2	NP_699205.1	Q8IV50	LYSM2_HUMAN	LysM, putative peptidoglycan-binding, domain containing 2	105					cell wall macromolecule catabolic process					lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		AATATACAATCATTGGTAAAC	0.308000													19	27					1.37522e-17	1.70917e-17	1	1	0
SOWAHB	345079	broad.mit.edu	37	4	77817258	77817258	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:77817258C>A	ENST00000334306.2	-	1	1744	c.1745G>T	c.(1744-1746)aGa>aTa	p.R582I		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	582																	CTCAGAAGTTCTGTGGGGGGC	0.577000													24	35					6.44725e-10	7.24009e-10	1	1	0
EIF4G2	1982	broad.mit.edu	37	11	10824594	10824594	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:10824594G>A	ENST00000526148.1	-	11	1489	c.979C>T	c.(979-981)Cgt>Tgt	p.R327C	EIF4G2_ENST00000525681.1_Missense_Mutation_p.R327C|EIF4G2_ENST00000396525.2_Missense_Mutation_p.R327C|EIF4G2_ENST00000339995.5_Missense_Mutation_p.R327C	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	327					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GCATCTTGACGAATTTGATTG	0.403000													16	26					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160262846	160262846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:160262846C>T	ENST00000264431.4	+	14	2601	c.2182C>T	c.(2182-2184)Cga>Tga	p.R728*		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	728	Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GCTCTCTATGCGAAATTTTGA	0.393000													23	29					0	0	1	0	0
COPS2	9318	broad.mit.edu	37	15	49426143	49426143	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:49426143G>T	ENST00000388901.5	-	8	951	c.878C>A	c.(877-879)cCa>cAa	p.P293Q	COPS2_ENST00000299259.6_Missense_Mutation_p.P300Q|COPS2_ENST00000542928.1_Missense_Mutation_p.P229Q	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	293	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TGAGTCAAATGGATTTATTCC	0.313000													17	20					2.94398e-08	3.22984e-08	1	1	0
ADCY10	55811	broad.mit.edu	37	1	167830251	167830251	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:167830251G>A	ENST00000367848.1	-	15	1888	c.1391C>T	c.(1390-1392)aCc>aTc	p.T464I	ADCY10_ENST00000367851.4_Missense_Mutation_p.T556I|ADCY10_ENST00000545172.1_Missense_Mutation_p.T403I			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	556					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CATCTGGATGGTATAGAAAGT	0.343000													28	37					0	0	1	0	0
WBSCR22	114049	broad.mit.edu	37	7	73098226	73098226	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:73098226T>G	ENST00000423166.2	+	2	197	c.150T>G	c.(148-150)atT>atG	p.I50M	WBSCR22_ENST00000265758.2_Intron|WBSCR22_ENST00000423497.1_Intron|WBSCR22_ENST00000464615.1_Intron			O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	0						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCCGTAGAATTTGGGGGTGCG	0.617000													25	24					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45807212	45807212	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:45807212C>T	ENST00000358525.4	-	8	1235	c.1120G>A	c.(1120-1122)Gca>Aca	p.A374T	SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000353278.4_Missense_Mutation_p.A337T|SLC6A20_ENST00000456124.2_Missense_Mutation_p.A374T	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	374					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			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)		ACGATGAATGCCAGGCCAGTG	0.522000													38	60					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139791	40139791	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:40139791G>A	ENST00000325157.6	-	7	1967	c.1717C>T	c.(1717-1719)Ctt>Ttt	p.L573F		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	573										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ATGACATTAAGTTCTTGGATC	0.433000													31	37					0	0	1	0	0
NIPSNAP3A	25934	broad.mit.edu	37	9	107513294	107513294	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:107513294C>T	ENST00000374767.4	+	2	223	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C		NM_015469.1	NP_056284.1			nipsnap homolog 3A (C. elegans)											autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CTATGAATTTCGTTCTTATTA	0.383000													38	48					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30987153	30987153	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:30987153C>T	ENST00000295055.8	-	6	720	c.544G>A	c.(544-546)Gat>Aat	p.D182N	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.D182N	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	182	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TAGTGCAGATCGGAATAGGAT	0.587000													9	15					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54850335	54850335	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:54850335G>T	ENST00000291759.4	-	1	86	c.30C>A	c.(28-30)ttC>ttA	p.F10L		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	10				LFF -> ICL (in Ref. 1; AAD02203).		integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCTCACCAAAGAAGAGCAGGC	0.567000													34	45					9.78485e-24	1.29037e-23	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129637243	129637243	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:129637243T>G	ENST00000421865.2	+	27	4034	c.3985T>G	c.(3985-3987)Ttc>Gtc	p.F1329V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1329	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCGAGAAGACTTCTTGGATAT	0.338000													29	42					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33065732	33065732	+	Missense_Mutation	SNP	C	C	T	rs139069393		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:33065732C>T	ENST00000286835.7	-	12	1770	c.1388G>A	c.(1387-1389)cGa>cAa	p.R463Q	SCAF4_ENST00000434667.3_Missense_Mutation_p.R448Q|SCAF4_ENST00000399804.1_Missense_Mutation_p.R463Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	463						nucleus	nucleotide binding|RNA binding	p.R463Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGACCGAGATCGAGAACGTCG	0.493000													20	43					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43817926	43817926	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:43817926G>T	ENST00000382031.1	+	5	5000	c.4969G>T	c.(4969-4971)Gac>Tac	p.D1657Y	MAP1A_ENST00000399453.1_Missense_Mutation_p.D1419Y|MAP1A_ENST00000300231.5_Missense_Mutation_p.D1419Y			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1419						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGCAAAAAGACACAGCCCT	0.438000													27	58					1.5548e-18	1.95606e-18	1	1	0
ZNF781	163115	broad.mit.edu	37	19	38160892	38160892	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:38160892C>T	ENST00000358582.4	-	4	906	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.R53Q	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R53Q(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AGTGTGAATTCGATTATGTTG	0.383000													60	70					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103540281	103540281	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:103540281A>G	ENST00000358392.2	-	4	861	c.544T>C	c.(544-546)Tgt>Cgt	p.C182R	COL11A1_ENST00000512756.1_Missense_Mutation_p.C182R|COL11A1_ENST00000353414.4_Missense_Mutation_p.C182R|COL11A1_ENST00000370096.3_Missense_Mutation_p.C182R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	182	TSP N-terminal.				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)		TTCTTCTTACAATCAACAATC	0.378000													20	22					0	0	1	0	0
MROH7-TTC4	100527960	broad.mit.edu	37	1	55139808	55139808	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:55139808T>G	ENST00000414150.2	+	10	2198	c.1920T>G	c.(1918-1920)atT>atG	p.I640M	MROH7_ENST00000409996.1_Missense_Mutation_p.I208M|MROH7_ENST00000339553.5_Missense_Mutation_p.I640M|MROH7_ENST00000395690.2_Missense_Mutation_p.I640M|MROH7_ENST00000545244.1_Missense_Mutation_p.I208M|MROH7_ENST00000421030.2_Missense_Mutation_p.I640M|MROH7_ENST00000454855.2_Missense_Mutation_p.I158M																							TCTACACTATTCTGGAGCTCC	0.502000													47	48					0	0	1	0	0
CENPN	55839	broad.mit.edu	37	16	81056428	81056428	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:81056428G>A	ENST00000299572.5	+	7	1336	c.600G>A	c.(598-600)aaG>aaA	p.K200K	CENPN_ENST00000305850.5_Intron|CENPN_ENST00000428963.2_Intron|RP11-303E16.3_ENST00000562315.1_RNA|CENPN_ENST00000393335.3_Intron|CENPN_ENST00000439957.3_Intron	NM_018455.5	NP_060925.2	Q96H22	CENPN_HUMAN	centromere protein N	0					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|large_intestine(5)|lung(4)	10						CCGAAATGAAGAAAGCTTGCA	0.328000													18	36					0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94147568	94147568	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:94147568G>T	ENST00000297273.4	+	3	571	c.284G>T	c.(283-285)aGa>aTa	p.R95I		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	95						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GGAGATTCCAGAATTCGTCAA	0.289000													23	97					1.85244e-09	2.06718e-09	1	1	0
BRD1	23774	broad.mit.edu	37	22	50216642	50216642	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:50216642C>A	ENST00000216267.8	-	1	1810	c.1324G>T	c.(1324-1326)Gcg>Tcg	p.A442S	BRD1_ENST00000457780.2_Missense_Mutation_p.A442S|BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000404760.1_Missense_Mutation_p.A442S|BRD1_ENST00000404034.1_Missense_Mutation_p.A442S|BRD1_ENST00000542442.1_Missense_Mutation_p.A81S|BRD1_ENST00000459821.1_5'UTR	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	442					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGCAGGACCGCGCAGGGCTCA	0.572000													64	72					2.01871e-26	2.70429e-26	1	1	0
ZNF816	125893	broad.mit.edu	37	19	53454542	53454542	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:53454542C>T	ENST00000357666.4	-	5	786	c.486G>A	c.(484-486)tcG>tcA	p.S162S	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Silent_p.S162S	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	162			S -> L (in dbSNP:rs11084210).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CAGGCAGATGCGAATGAAAGC	0.403000													91	130					0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65057319	65057319	+	Missense_Mutation	SNP	G	G	A	rs143904136		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:65057319G>A	ENST00000265465.3	+	13	1751	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	POLA2_ENST00000541089.1_Missense_Mutation_p.R199Q	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	407					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CAGTGTCTACGAACAATTATT	0.383000													13	10					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58453105	58453105	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:58453105C>T	ENST00000282308.3	-	3	1267	c.1071G>A	c.(1069-1071)ggG>ggA	p.G357G	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	357					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TAAAAGATTTCCCACATTCAC	0.428000													36	54					0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48035540	48035540	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:48035540C>T	ENST00000403359.3	-	22	2654	c.2582G>A	c.(2581-2583)cGa>cAa	p.R861Q	FBXO11_ENST00000316377.4_Missense_Mutation_p.R777Q|FBXO11_ENST00000402508.1_Missense_Mutation_p.R777Q|FBXO11_ENST00000434523.2_Missense_Mutation_p.R285Q|FBXO11_ENST00000405808.1_Missense_Mutation_p.R15Q|MSH6_ENST00000234420.5_3'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	861					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TATGGCATTTCGATCTGTGGT	0.323000			"""Mis, F, D"""		DLBCL								29	31					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244335	56244335	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:56244335G>A	ENST00000332836.2	-	2	889	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	288	NACHT.					cytoplasm	ATP binding	p.R288W(2)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTGGATGCCGCAACATAAAA	0.378000													23	26					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66948239	66948239	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:66948239G>A	ENST00000299752.4	-	7	853	c.660C>T	c.(658-660)gcC>gcT	p.A220A	CDH16_ENST00000565796.1_Silent_p.A220A|CDH16_ENST00000570262.1_Silent_p.A140A|CDH16_ENST00000394055.3_Silent_p.A220A|CDH16_ENST00000568632.1_Silent_p.A123A	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	220	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GGTGGCCTGAGGCCTGGTCAC	0.582000													26	48					0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465656	24465656	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:24465656G>T	ENST00000382137.3	-	3	842	c.774C>A	c.(772-774)ttC>ttA	p.F258L	C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.F258L|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Intron	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	258	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CATTCCTGGAGAAAACAGTGA	0.453000													16	141					5.26018e-13	6.14379e-13	1	1	0
OR4P4	81300	broad.mit.edu	37	11	55406649	55406649	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:55406649T>G	ENST00000314612.2	+	1	816	c.816T>G	c.(814-816)ttT>ttG	p.F272L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGCCCTTTTTTATACCATCA	0.408000													35	4					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29527462	29527462	+	Missense_Mutation	SNP	G	G	A	rs76015786		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:29527462G>A	ENST00000358273.4	+	9	1294	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	NF1_ENST00000356175.3_Missense_Mutation_p.R304Q|NF1_ENST00000431387.4_Missense_Mutation_p.R304Q	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	304					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACAGTCTACGAAAAGCTCTT	0.368000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			28	36					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467883	10467883	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:10467883C>A	ENST00000382483.3	-	4	3948	c.3725G>T	c.(3724-3726)aGa>aTa	p.R1242I		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1242					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCATAAGTTCTTGAATCAGG	0.567000													42	36					1.52319e-26	2.04253e-26	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155236912	155236912	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:155236912C>T	ENST00000357232.4	-	15	3882	c.3883G>A	c.(3883-3885)Gac>Aac	p.D1295N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAATCTCTGTCCAGAGCTTCA	0.353000													18	31					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51065370	51065370	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:51065370C>A	ENST00000402038.3	-	9	879	c.880G>T	c.(880-882)Gaa>Taa	p.E294*		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	779					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity			endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		ATTAGACATTCATTGTGATCC	0.423000													3	3					1	1	1	1	0
AKT3	10000	broad.mit.edu	37	1	243663051	243663051	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:243663051T>G	ENST00000336199.5	-	13	1457	c.1392A>C	c.(1390-1392)aaA>aaC	p.K464N	SDCCAG8_ENST00000366541.3_Intron|SDCCAG8_ENST00000355875.4_Intron|AKT3_ENST00000366540.1_Missense_Mutation_p.K464N|SDCCAG8_ENST00000343783.6_Intron	NM_181690.2	NP_859029.1	Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	464	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TTTATTATTTTTTCCAGTTAC	0.333000													10	13					0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159104007	159104007	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:159104007A>C	ENST00000297239.9	+	5	574	c.380A>C	c.(379-381)aAa>aCa	p.K127T	SYTL3_ENST00000367081.3_Missense_Mutation_p.N7H|SYTL3_ENST00000360448.3_Missense_Mutation_p.K127T			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	127					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CGAGCCAAGAAATTTCCAACT	0.313000													12	28					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114276929	114276929	+	Silent	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:114276929T>G	ENST00000357077.4	+	38	7208	c.7155T>G	c.(7153-7155)ccT>ccG	p.P2385P	ANK2_ENST00000264366.6_Silent_p.P2352P|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2352					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCCGCTGCCTGAGGCTTCTG	0.498000													28	40					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3047537	3047537	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:3047537G>A	ENST00000602557.1	-	35	5853	c.5298C>T	c.(5296-5298)ttC>ttT	p.F1766F	CSMD1_ENST00000520002.1_Silent_p.F1766F|CSMD1_ENST00000539096.1_Silent_p.F1765F|CSMD1_ENST00000537824.1_Silent_p.F1765F|CSMD1_ENST00000602723.1_Silent_p.F1766F|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Silent_p.F1766F|CSMD1_ENST00000542608.1_Silent_p.F1765F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1766	Sushi 10.					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)		GGTTGCACTCGAATCGGACGA	0.597000													6	9					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43057090	43057090	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:43057090A>G	ENST00000316099.4	+	9	1334	c.1245A>G	c.(1243-1245)ggA>ggG	p.G415G	HNF4A_ENST00000316673.4_Silent_p.G393G|HNF4A_ENST00000457232.1_Silent_p.G393G|HNF4A_ENST00000415691.2_Silent_p.G415G	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha						blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCAGCAACGGACAGATGTGTG	0.587000													3	37					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25664217	25664217	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:25664217G>T	ENST00000382051.3	+	2	145	c.95G>T	c.(94-96)aGc>aTc	p.S32I	SLC34A2_ENST00000503434.1_Missense_Mutation_p.S32I|SLC34A2_ENST00000504570.1_Missense_Mutation_p.S32I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	32					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		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)				CCTGATAAAAGCAAAGAGACC	0.557000			T	ROS1	NSCLC								61	57					3.56336e-21	4.60019e-21	1	1	0
PROZ	8858	broad.mit.edu	37	13	113817386	113817386	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:113817386G>T	ENST00000342783.4	+	5	396	c.389G>T	c.(388-390)gGc>gTc	p.G130V	PROZ_ENST00000375547.2_Missense_Mutation_p.G108V	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	108	EGF-like 2.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AGCATCTGGGGCTACACCTGC	0.697000													2	0					0.0784	0.078903	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147869488	147869488	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:147869488T>C	ENST00000361727.3	+	18	3444	c.2928T>C	c.(2926-2928)aaT>aaC	p.N976N	CNTNAP2_ENST00000538075.1_Silent_p.N35N	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	976	EGF-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)			ACTGTGAAAATGGAGGCAAAT	0.468000										HNSCC(39;0.1)			6	103					0	0	1	0	0
CD36	948	broad.mit.edu	37	7	80303447	80303447	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:80303447C>T	ENST00000435819.1	+	17	2087	c.1403C>T	c.(1402-1404)tCg>tTg	p.S468L	CD36_ENST00000394788.3_Missense_Mutation_p.S468L|CD36_ENST00000309881.7_Missense_Mutation_p.S468L|CD36_ENST00000534394.1_Missense_Mutation_p.S392L|CD36_ENST00000538969.1_Missense_Mutation_p.S408L|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000432207.1_Missense_Mutation_p.S468L|CD36_ENST00000447544.2_Missense_Mutation_p.S468L|CD36_ENST00000433696.2_Missense_Mutation_p.S429L			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	468					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GCATGCAGATCGAAAACAATA	0.294000													7	7					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102307194	102307194	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:102307194C>T	ENST00000369138.1	+	10	1840	c.1350C>T	c.(1348-1350)gaC>gaT	p.D450D	GRIK2_ENST00000369137.3_Silent_p.D450D|GRIK2_ENST00000421544.1_Silent_p.D450D|GRIK2_ENST00000318991.6_Silent_p.D450D|GRIK2_ENST00000413795.1_Silent_p.D450D|GRIK2_ENST00000369134.4_Silent_p.D401D	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	450					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGAAGTCTGACAAACCTCTCT	0.348000													12	11					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101086821	101086821	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:101086821G>A	ENST00000394095.2	-	8	884	c.831C>T	c.(829-831)ctC>ctT	p.L277L	SENP7_ENST00000348610.3_Silent_p.L244L|SENP7_ENST00000358203.3_Silent_p.L113L|SENP7_ENST00000394094.2_Silent_p.L212L|SENP7_ENST00000394091.1_Silent_p.L113L|SENP7_ENST00000314261.7_Silent_p.L211L	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	277					proteolysis	nucleus	cysteine-type peptidase activity	p.L211L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTTCCTGTTCGAGATGATCAC	0.333000													33	33					0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131503882	131503882	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:131503882C>A	ENST00000291900.2	-	11	2075	c.1669G>T	c.(1669-1671)Gaa>Taa	p.E557*		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	557					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TCAGGAGTTTCATCTGTGATG	0.577000													64	63					1.3268e-25	1.7694e-25	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168106186	168106186	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:168106186C>A	ENST00000409195.1	+	9	8373	c.8284C>A	c.(8284-8286)Cat>Aat	p.H2762N	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H2540N|XIRP2_ENST00000295237.9_Missense_Mutation_p.H2762N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2587					actin cytoskeleton organization	cell junction	actin binding			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						TGAATGTAGTCATAAGCAATC	0.363000													31	33					1.30897e-18	1.64835e-18	1	1	0
PEX19	5824	broad.mit.edu	37	1	160252265	160252265	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:160252265A>C	ENST00000368072.5	-	4	395	c.374T>G	c.(373-375)tTc>tGc	p.F125C	DCAF8_ENST00000608310.1_Intron|DCAF8_ENST00000556710.1_Intron|PEX19_ENST00000440949.3_Missense_Mutation_p.F35C|PEX19_ENST00000532508.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAAGAAGTGAATTCTTGTTG	0.458000													17	16					0	0	1	0	0
ENDOU	8909	broad.mit.edu	37	12	48106349	48106349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:48106349C>T	ENST00000422538.3	-	8	1044	c.922G>A	c.(922-924)Gag>Aag	p.E308K	ENDOU_ENST00000545824.2_Missense_Mutation_p.E245K|ENDOU_ENST00000542202.1_Missense_Mutation_p.E74K|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000229003.3_Missense_Mutation_p.E267K	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	308					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						TCCTTCTCCTCCAGGTAGAAG	0.478000													15	17					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572217	76572217	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:76572217C>A	ENST00000307431.8	+	20	3582	c.3197C>A	c.(3196-3198)tCt>tAt	p.S1066Y	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S1018Y|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S994Y|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S1070Y	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1067	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAATACCTTTCTGTGATCATT	0.358000													23	51					6.32553e-13	7.3784e-13	1	1	0
ZNF534	147658	broad.mit.edu	37	19	52942308	52942308	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:52942308G>A	ENST00000332323.6	+	4	1695	c.1634G>A	c.(1633-1635)cGt>cAt	p.R545H	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R532H|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AAGGTCTTCCGTCGGAATTCA	0.443000													7	9					0	0	1	0	0
GCNT4	51301	broad.mit.edu	37	5	74324903	74324903	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:74324903G>A	ENST00000322348.4	-	1	1821	c.960C>T	c.(958-960)atC>atT	p.I320I		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	320					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		AGTCTTGAACGATGGAGTTGT	0.408000													27	25					0	0	1	0	0
KPNA4	3840	broad.mit.edu	37	3	160283056	160283056	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:160283056C>A	ENST00000334256.4	-	1	320	c.15G>T	c.(13-15)gaG>gaT	p.E5D	KPNA4_ENST00000469804.1_5'UTR	NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	5	IBB.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TGTCCAGTTTCTCGTTGTCCG	0.682000													15	8					1.5739e-10	1.78284e-10	1	1	0
EIF4A3	9775	broad.mit.edu	37	17	78110043	78110043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:78110043C>A	ENST00000269349.3	-	10	1296	c.1075G>T	c.(1075-1077)Gaa>Taa	p.E359*		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	359	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			ATGTACAATTCTCTGTTATTA	0.393000													28	26					7.41945e-09	8.19551e-09	1	1	0
AK5	26289	broad.mit.edu	37	1	77752811	77752811	+	Splice_Site	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:77752811T>G	ENST00000344720.5	+	2	1194	c.168T>G	c.(166-168)aaT>aaG	p.N56K	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Splice_Site_p.N82K	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	82					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TTCTAAGAAATGGTAATGTAT	0.353000													22	41					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14974219	14974219	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:14974219G>T	ENST00000285046.5	+	19	4443	c.4333G>T	c.(4333-4335)Gat>Tat	p.D1445Y	FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000543601.1_Missense_Mutation_p.D1161Y	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1445	PH 2.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAAAGCAGAAGATACCAATTC	0.403000													58	98					2.93687e-30	4.02011e-30	1	1	0
ST3GAL3	6487	broad.mit.edu	37	1	44360121	44360121	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:44360121C>T	ENST00000262915.3	+	7	753	c.576C>T	c.(574-576)ttC>ttT	p.F192F	ST3GAL3_ENST00000545417.1_Silent_p.F138F|ST3GAL3_ENST00000347631.2_Silent_p.F138F|ST3GAL3_ENST00000353126.3_Silent_p.F123F|ST3GAL3_ENST00000372367.1_Silent_p.F122F|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372365.1_Silent_p.F123F|ST3GAL3_ENST00000372368.2_Silent_p.F177F|ST3GAL3_ENST00000372372.2_Silent_p.F161F|ST3GAL3_ENST00000531451.1_Silent_p.F107F|ST3GAL3_ENST00000332628.6_Silent_p.F92F|ST3GAL3_ENST00000372375.2_Silent_p.F177F|ST3GAL3_ENST00000372369.1_Silent_p.F123F|ST3GAL3_ENST00000361746.4_Silent_p.F192F|ST3GAL3_ENST00000531993.1_Silent_p.F107F|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000372362.2_Silent_p.F123F|ST3GAL3_ENST00000330208.2_Silent_p.F123F|ST3GAL3_ENST00000533933.1_Silent_p.F123F|ST3GAL3_ENST00000528371.1_Silent_p.F107F|ST3GAL3_ENST00000372377.4_Silent_p.F123F|ST3GAL3_ENST00000372366.1_Silent_p.F122F|ST3GAL3_ENST00000335430.6_Silent_p.F107F|ST3GAL3_ENST00000361812.4_Silent_p.F138F|ST3GAL3_ENST00000372374.2_Silent_p.F92F|ST3GAL3_ENST00000361400.4_Silent_p.F107F|ST3GAL3_ENST00000351035.3_Silent_p.F161F|ST3GAL3_ENST00000361392.4_Silent_p.F123F	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	123					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				TCCGGGAGTTCGTGCCGCCTT	0.512000													55	66					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113146031	113146031	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:113146031T>C	ENST00000302558.3	-	20	4682	c.4491A>G	c.(4489-4491)gaA>gaG	p.E1497E	RGPD8_ENST00000409750.1_Silent_p.E1357E	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TTGTGATTTCTTCTAATACAG	0.418000													198	237					0	0	1	0	0
TMEM8C	389827	broad.mit.edu	37	9	136380649	136380649	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:136380649G>A	ENST00000339996.3	-	4	581	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	160						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						CCAGCGCCCCGAAGCAGAGGC	0.617000													33	36					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	70992596	70992596	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:70992596G>A	ENST00000354624.5	+	3	436	c.303G>A	c.(301-303)ggG>ggA	p.G101G	HKDC1_ENST00000395086.2_Silent_p.G101G	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	101					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTGAAGAGGGGAAGCGACACG	0.537000													71	125					0	0	1	0	0
STXBP6	29091	broad.mit.edu	37	14	25288541	25288541	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:25288541G>A	ENST00000548369.1	-	1	142	c.5C>T	c.(4-6)tCg>tTg	p.S2L	STXBP6_ENST00000419632.2_Intron|STXBP6_ENST00000546511.1_Intron|STXBP6_ENST00000548724.1_Intron|STXBP6_ENST00000550887.1_Intron|STXBP6_ENST00000396700.1_Intron|STXBP6_ENST00000323944.5_Intron|STXBP6_ENST00000358326.2_Intron			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	0					vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		GAAACAAGCCGACATTTCTTT	0.493000													3	3					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129902530	129902530	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:129902530A>C	ENST00000368654.3	-	13	7949	c.7574T>G	c.(7573-7575)tTt>tGt	p.F2525C	MKI67_ENST00000368653.3_Missense_Mutation_p.F2165C	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2525	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGACTCCTTAAACGCTTTGAT	0.517000													68	86					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39872818	39872818	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:39872818C>A	ENST00000502986.2	+	11	1202	c.960C>A	c.(958-960)ttC>ttA	p.F320L	IDO2_ENST00000389060.4_Missense_Mutation_p.F307L|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	307					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						ATAAGGCCTTCATAGAAGACA	0.473000													19	30					1.2644e-06	1.35663e-06	1	1	0
OR2AT4	341152	broad.mit.edu	37	11	74800196	74800196	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:74800196G>C	ENST00000305159.3	-	1	603	c.563C>G	c.(562-564)gCt>gGt	p.A188G		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						CTGGACCACAGCCAGATGATC	0.577000													23	27					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14947422	14947422	+	Silent	SNP	G	G	A	rs143167300	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:14947422G>A	ENST00000287667.7	+	8	1005	c.834G>A	c.(832-834)tcG>tcA	p.S278S	NOMO1_ENST00000566883.1_3'UTR	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	278						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						AAGATGGCTCGTTCTCTTTCT	0.502000													5	217					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196871683	196871683	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:196871683G>A	ENST00000367416.2	+	2	328	c.191G>A	c.(190-192)gGa>gAa	p.G64E	CFHR4_ENST00000251424.4_Missense_Mutation_p.G65E|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000608469.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ACTCCTTCAGGAAGTTACTGG	0.393000													45	68					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563190	129563190	+	Silent	SNP	G	G	A	rs151125221	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:129563190G>A	ENST00000422113.2	-	8	2330	c.2004C>T	c.(2002-2004)ctC>ctT	p.L668L	TMEM132D_ENST00000389441.4_Silent_p.L206L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	668						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCTGCACCCCGAGGTCTGTGA	0.572000													60	69					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105456549	105456549	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:105456549C>A	ENST00000351513.2	-	4	852	c.720G>T	c.(718-720)gtG>gtT	p.V240V		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	240					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGGACAGTTCACAGCGCTGG	0.557000													24	27					5.45024e-15	6.5479e-15	1	1	0
RGPD4	285190	broad.mit.edu	37	2	108488568	108488568	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:108488568G>T	ENST00000408999.3	+	20	4185	c.4108G>T	c.(4108-4110)Gat>Tat	p.D1370Y	RGPD4_ENST00000354986.4_Missense_Mutation_p.D1370Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1370	RanBD1 2.				intracellular transport		binding	p.D1370H(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATATGATAAAGATGTTGGTCA	0.358000													128	158					6.86218e-66	9.85618e-66	1	1	0
ING3	54556	broad.mit.edu	37	7	120610833	120610833	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:120610833G>T	ENST00000315870.5	+	10	1148	c.1000G>T	c.(1000-1002)Gaa>Taa	p.E334*	ING3_ENST00000431467.1_Nonsense_Mutation_p.E319*	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	334					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					TGTTGTACAAGAAATCTCTCA	0.388000													18	17					6.49762e-13	7.57416e-13	1	1	0
CCDC41	51134	broad.mit.edu	37	12	94763806	94763806	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:94763806C>A	ENST00000397809.5	-	9	1489	c.940G>T	c.(940-942)Gaa>Taa	p.E314*	CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000339839.5_Nonsense_Mutation_p.E314*|CCDC41_ENST00000547575.1_Nonsense_Mutation_p.E314*|CCDC41_ENST00000397807.2_Nonsense_Mutation_p.E281*	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	306								p.E314*(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TGTTTAAGTTCTTTTACCTGT	0.338000													46	70					5.73435e-26	7.66064e-26	1	1	0
C1orf159	54991	broad.mit.edu	37	1	1022531	1022531	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:1022531G>A	ENST00000448924.1	-	7	837	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	C1orf159_ENST00000379319.1_Missense_Mutation_p.R100W|C1orf159_ENST00000437760.1_Missense_Mutation_p.R100W|C1orf159_ENST00000379320.1_Missense_Mutation_p.R100W|C1orf159_ENST00000421241.2_Missense_Mutation_p.R100W|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379339.1_Missense_Mutation_p.R136W|C1orf159_ENST00000294576.5_Missense_Mutation_p.R100W			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	136						integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GGATGTGGCCGCCCGGGGGTC	0.667000													11	16					0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21133909	21133909	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:21133909G>A	ENST00000215727.5	+	2	592	c.309G>A	c.(307-309)ccG>ccA	p.P103P	PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Silent_p.P103P	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	103					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CAGTTTCCCCGACAGACTCTG	0.522000													28	31					0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113815414	113815414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:113815414C>T	ENST00000260191.2	+	8	1284	c.1027C>T	c.(1027-1029)Cga>Tga	p.R343*	HTR3B_ENST00000537778.1_Nonsense_Mutation_p.R332*	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	343					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CTTGTGCCTTCGAGGGGACAC	0.557000													46	41					0	0	1	0	0
HOXD11	3237	broad.mit.edu	37	2	176973703	176973703	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:176973703G>A	ENST00000249504.5	+	2	920	c.850G>A	c.(850-852)Gag>Aag	p.E284K	HOXD10_ENST00000490088.2_3'UTR|HOXD11_ENST00000498438.1_3'UTR	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	284						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		ACTGGAACGCGAGTTTTTCTT	0.507000			T	NUP98	AML								10	145					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143036686	143036686	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:143036686G>T	ENST00000343257.2	+	14	1641	c.1554G>T	c.(1552-1554)aaG>aaT	p.K518N		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	518					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TCATCTACAAGATCCTACCTG	0.433000													18	16					1.33834e-09	1.4963e-09	1	1	0
C2orf16	84226	broad.mit.edu	37	2	27800309	27800309	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:27800309C>A	ENST00000408964.2	+	1	921	c.870C>A	c.(868-870)ttC>ttA	p.F290L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	290										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAAATGAATTCTTTGGAATGA	0.458000													54	44					2.14674e-31	2.9499e-31	1	1	0
SUGT1	10910	broad.mit.edu	37	13	53254191	53254191	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:53254191G>T	ENST00000310528.8	+	12	856	c.801G>T	c.(799-801)aaG>aaT	p.K267N	SUGT1_ENST00000535397.1_Missense_Mutation_p.K211N|SUGT1_ENST00000343788.6_Missense_Mutation_p.K299N			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)						mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		AAGAAGAAAAGAATGAAAAGT	0.348000													29	35					2.12542e-12	2.46249e-12	1	1	0
ZNF154	7710	broad.mit.edu	37	19	58213957	58213957	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:58213957G>A	ENST00000512439.2	-	3	556	c.360C>T	c.(358-360)agC>agT	p.S120S	AC003006.7_ENST00000599221.1_Intron|ZNF154_ENST00000426889.1_Silent_p.S120S|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	120						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCCCACCGTCGCTTTTGCTAT	0.493000													62	67					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104031992	104031992	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:104031992A>C	ENST00000265148.3	-	47	7806	c.7717T>G	c.(7717-7719)Ttg>Gtg	p.L2573V	CENPE_ENST00000380026.3_Missense_Mutation_p.L2452V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2573	Globular autoinhibitory domain (By similarity).				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TACCTTAACAATTCATTCTTT	0.313000													15	25					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139801902	139801902	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:139801902C>T	ENST00000397560.2	-	12	1584	c.1487G>A	c.(1486-1488)cGa>cAa	p.R496Q	JHDM1D_ENST00000006967.5_Missense_Mutation_p.R496Q	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		496					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATTTGAGGATCGTGAAACTGG	0.393000													38	57					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111452430	111452430	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:111452430G>T	ENST00000265162.5	+	11	2146	c.1804G>T	c.(1804-1806)Gaa>Taa	p.E602*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	602					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GTCAGAAAAAGAAGGTAAATA	0.244000													13	19					0.00316338	0.00322198	1	1	0
PGR	5241	broad.mit.edu	37	11	100996850	100996850	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:100996850G>A	ENST00000325455.5	-	2	3130	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	PGR_ENST00000263463.5_Silent_p.F559F|PGR_ENST00000534013.1_5'UTR	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	559	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GTAATGACTCGAAGCTGTATT	0.418000													20	19					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80620374	80620374	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:80620374G>A	ENST00000466387.1	+	12	1819	c.1095G>A	c.(1093-1095)gcG>gcA	p.A365A	CTNNA2_ENST00000402739.4_Silent_p.A365A|CTNNA2_ENST00000541047.1_Silent_p.A365A|CTNNA2_ENST00000496558.1_Silent_p.A365A|CTNNA2_ENST00000361291.4_Silent_p.A399A|CTNNA2_ENST00000343114.3_Silent_p.A44A|CTNNA2_ENST00000540488.1_Silent_p.A365A			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	365					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCAACATTGCGATTGATAAGA	0.294000													22	42					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20493455	20493455	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:20493455G>T	ENST00000202677.7	-	32	4565	c.4558C>A	c.(4558-4560)Ctt>Att	p.L1520I		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AATTTGTCAAGAACATCATCC	0.428000													38	45					8.16277e-20	1.04343e-19	1	1	0
XPOT	11260	broad.mit.edu	37	12	64825470	64825470	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:64825470G>A	ENST00000332707.5	+	18	2658	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	710	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTCCTTCATCGAATGATTATT	0.418000													13	44					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886517	119886517	+	Missense_Mutation	SNP	G	G	A	rs143524747	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:119886517G>A	ENST00000464295.1	-	10	2252	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	GPR156_ENST00000315843.3_Missense_Mutation_p.R603W|GPR156_ENST00000461057.1_Missense_Mutation_p.R599W			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	603	Poly-Arg.					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.R603W(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGAGCTGCCCGCCTTCTCCTC	0.592000													32	38					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208433	140208433	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140208433G>A	ENST00000529310.1	+	1	871	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PCDHA6_ENST00000527624.1_Missense_Mutation_p.E253K|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAATATTCGAAAATGCAGA	0.438000													41	65					0	0	1	0	0
DCTN3	11258	broad.mit.edu	37	9	34614735	34614735	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:34614735C>T	ENST00000378913.2	-	5	399	c.383G>A	c.(382-384)cGc>cAc	p.R128H	DCTN3_ENST00000447983.2_3'UTR|DCTN3_ENST00000479399.1_5'UTR|DCTN3_ENST00000378916.4_Missense_Mutation_p.R100H|DCTN3_ENST00000259632.7_Missense_Mutation_p.R128H|DCTN3_ENST00000477738.2_Missense_Mutation_p.R128H|DCTN3_ENST00000341694.2_Missense_Mutation_p.R128H			O75935	DCTN3_HUMAN	dynactin 3 (p22)	128					cytokinesis|G2/M transition of mitotic cell cycle|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity			large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		CTGGGCCAAGCGCTGCAGGCG	0.572000													35	56					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61750316	61750316	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:61750316C>T	ENST00000423902.2	+	18	4754	c.4275C>T	c.(4273-4275)ttC>ttT	p.F1425F	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1425	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGGAAATGTTCGACAAGGCTA	0.428000													12	16					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150463973	150463973	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:150463973C>T	ENST00000369064.3	+	5	650	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	TARS2_ENST00000438568.2_Missense_Mutation_p.S164L|TARS2_ENST00000369054.2_Missense_Mutation_p.R206C|TARS2_ENST00000606933.1_Missense_Mutation_p.R206C	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	206					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGATCAGCTTCGCCAGTTGTT	0.532000													64	52					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154229706	154229706	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:154229706G>A	ENST00000428931.1	+	19	2492	c.2325G>A	c.(2323-2325)tcG>tcA	p.S775S	UBAP2L_ENST00000343815.6_Silent_p.S775S|UBAP2L_ENST00000361546.2_Silent_p.S775S|UBAP2L_ENST00000271877.7_Silent_p.S786S	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	775					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCACAGCCTCGACTCGAAGCT	0.532000													37	47					0	0	1	0	0
MRS2	57380	broad.mit.edu	37	6	24412525	24412525	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:24412525T>C	ENST00000378386.3	+	5	583	c.490T>C	c.(490-492)Ttc>Ctc	p.F164L	MRS2_ENST00000535061.1_Missense_Mutation_p.F114L|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000443868.2_Missense_Mutation_p.F167L|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000378353.1_Missense_Mutation_p.F164L|MRS2_ENST00000274747.7_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	164					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GCAATGGCTGTTCCGGGAACT	0.378000													35	39					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103201986	103201986	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:103201986A>C	ENST00000424685.2	-	36	5681	c.5522T>G	c.(5521-5523)tTt>tGt	p.F1841C	RELN_ENST00000428762.1_Missense_Mutation_p.F1841C|RELN_ENST00000343529.5_Missense_Mutation_p.F1841C			P78509	RELN_HUMAN	reelin	1841					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GACCCCTTTAAAAATTAGAGA	0.398000													30	58					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35730874	35730874	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:35730874C>A	ENST00000187397.4	+	7	938	c.482C>A	c.(481-483)tCc>tAc	p.S161Y	ARPP21_ENST00000337271.5_Missense_Mutation_p.S161Y|ARPP21_ENST00000444190.1_Missense_Mutation_p.S161Y|ARPP21_ENST00000458225.1_Missense_Mutation_p.S161Y|ARPP21_ENST00000417925.1_Missense_Mutation_p.S161Y	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	161						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAGAATAATTCCAGGTAAATT	0.328000													18	18					2.5808e-16	3.16764e-16	1	1	0
HNRNPH3	3189	broad.mit.edu	37	10	70099301	70099301	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:70099301G>A	ENST00000265866.7	+	6	793	c.628G>A	c.(628-630)Gac>Aac	p.D210N	HNRNPH3_ENST00000441000.2_Missense_Mutation_p.D102N|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.D195N	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	210	Gly-rich.|RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						AACTGAAAATGACATTGCTAA	0.373000													12	23					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10231309	10231309	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:10231309G>T	ENST00000377157.3	+	24	3773	c.2712G>T	c.(2710-2712)aaG>aaT	p.K904N	UBE4B_ENST00000253251.8_Missense_Mutation_p.K1020N|UBE4B_ENST00000343090.6_Missense_Mutation_p.K1149N	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1149					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTGAACCAAAGAAGCTGTTGG	0.483000													73	96					4.37588e-27	5.9065e-27	1	1	0
SLC6A15	55117	broad.mit.edu	37	12	85255686	85255686	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:85255686G>A	ENST00000266682.5	-	12	2459	c.1918C>T	c.(1918-1920)Cgt>Tgt	p.R640C	SLC6A15_ENST00000552192.1_Missense_Mutation_p.R533C|SLC6A15_ENST00000309283.7_Intron	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	640					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTGAAGCGACGAACAATGAAA	0.443000													62	88					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48556371	48556371	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:48556371C>T	ENST00000435803.1	+	52	13715	c.13691C>T	c.(13690-13692)tCg>tTg	p.S4564L	ABCA13_ENST00000544596.1_Missense_Mutation_p.S294L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4564					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTCCAGTTCGGACGTGGCT	0.393000													62	86					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176019724	176019724	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:176019724C>T	ENST00000510636.1	+	31	4009	c.3735C>T	c.(3733-3735)agC>agT	p.S1245S	CDHR2_ENST00000506348.1_Splice_Site_p.S1245S|CDHR2_ENST00000261944.5_Splice_Site_p.S1245S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1245					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCTCTTACAGCGTCAACTCCC	0.547000													20	35					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058480	9058480	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9058480C>A	ENST00000397910.4	-	3	29169	c.28966G>T	c.(28966-28968)Gaa>Taa	p.E9656*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9658	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						TCTGCAGATTCTGTCATGATG	0.498000													43	44					1.7489e-18	2.19819e-18	1	1	0
ASPM	259266	broad.mit.edu	37	1	197060162	197060162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:197060162G>A	ENST00000367409.4	-	23	9710	c.9454C>T	c.(9454-9456)Cga>Tga	p.R3152*	ASPM_ENST00000294732.7_Nonsense_Mutation_p.R1567*|ASPM_ENST00000367408.1_Nonsense_Mutation_p.R817*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3152					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATCTTGCTCGAAACCATCTC	0.289000													9	26					0	0	1	0	0
CD7	924	broad.mit.edu	37	17	80274777	80274777	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:80274777G>A	ENST00000584284.1	-	2	244	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	CD7_ENST00000583376.1_5'UTR|CD7_ENST00000578509.1_5'UTR|CD7_ENST00000312648.3_Missense_Mutation_p.R55C			P09564	CD7_HUMAN	CD7 molecule	55	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			TAGATCCCACGCAGGCCCCCG	0.657000													40	46					0	0	1	0	0
TSLP	85480	broad.mit.edu	37	5	110409280	110409280	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:110409280A>C	ENST00000420978.2	+	4	1710	c.288A>C	c.(286-288)gaA>gaC	p.E96D	TSLP_ENST00000344895.3_Missense_Mutation_p.E96D|TSLP_ENST00000379706.4_5'UTR			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	96						extracellular space	cytokine activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		TCGCCAAAGAAATGTTCGCCA	0.532000													109	123					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156649948	156649948	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:156649948G>A	ENST00000422843.3	+	6	723	c.571G>A	c.(571-573)Gca>Aca	p.A191T	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	191	SH3.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAGGAACTCGCACTGCGGCG	0.502000			T	SYK	peripheral T-cell lymphoma								55	68					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128696921	128696921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:128696921C>A	ENST00000265068.5	-	5	942	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Nonsense_Mutation_p.E259*|KIAA1257_ENST00000515659.1_Nonsense_Mutation_p.E147*	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	259										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TCTGTTTTTTCTTGTTTTCCT	0.448000													31	40					1.99505e-19	2.53687e-19	1	1	0
APC	324	broad.mit.edu	37	5	112173588	112173588	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:112173588C>T	ENST00000457016.1	+	16	2677	c.2297C>T	c.(2296-2298)gCt>gTt	p.A766V	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.A766V|APC_ENST00000257430.4_Missense_Mutation_p.A766V			P25054	APC_HUMAN	adenomatous polyposis coli	766	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAATTAGATGCTCAGCACTTA	0.408000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			35	30					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16252734	16252734	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:16252734G>A	ENST00000339732.5	+	5	1686	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	GALNT15_ENST00000437509.1_Missense_Mutation_p.E395K	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		TGAAAACCTCGAACTGTCTTT	0.532000													31	32					0	0	1	0	0
SPRY2	10253	broad.mit.edu	37	13	80910960	80910960	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:80910960T>G	ENST00000377102.1	-	2	1858	c.881A>C	c.(880-882)aAa>aCa	p.K294T	SPRY2_ENST00000540649.1_Missense_Mutation_p.K294T|SPRY2_ENST00000377104.3_Missense_Mutation_p.K294T			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	294	Cys-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GTTTGAGTTTTTACAGCGGCA	0.443000													19	26					0	0	1	0	0
SERPINF1	5176	broad.mit.edu	37	17	1679937	1679937	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:1679937G>T	ENST00000254722.4	+	7	1061	c.898G>T	c.(898-900)Gac>Tac	p.D300Y		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	300					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GTTCATTCATGACATAGACCG	0.527000													69	84					7.75977e-34	1.07628e-33	1	1	0
LRRC66	339977	broad.mit.edu	37	4	52883500	52883500	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:52883500T>C	ENST00000343457.3	-	1	286	c.280A>G	c.(280-282)Aac>Gac	p.N94D		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	94						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATGAGATTGTTACTGAGGTCC	0.383000													39	59					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109697883	109697883	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:109697883G>A	ENST00000465301.2	+	3	4284	c.4038G>A	c.(4036-4038)caG>caA	p.Q1346Q	RGAG1_ENST00000540313.1_Silent_p.Q1346Q	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1346										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTCAGCAGCAGACTGAGGAGG	0.507000													24	0					0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11903562	11903562	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:11903562C>A	ENST00000405977.1	+	5	1442	c.817C>A	c.(817-819)Ctc>Atc	p.L273I	BTBD3_ENST00000254977.3_Missense_Mutation_p.L212I|BTBD3_ENST00000399006.2_Missense_Mutation_p.L212I|BTBD3_ENST00000488503.1_3'UTR|BTBD3_ENST00000378226.2_Missense_Mutation_p.L273I	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	273										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AGAAAGTATTCTCCGTAGGGA	0.488000													49	42					1.22102e-19	1.5567e-19	1	1	0
KCND3	3752	broad.mit.edu	37	1	112322879	112322879	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:112322879G>T	ENST00000369697.1	-	4	1498	c.1429C>A	c.(1429-1431)Cat>Aat	p.H477N	KCND3_ENST00000302127.4_Missense_Mutation_p.H477N|KCND3_ENST00000315987.2_Missense_Mutation_p.H477N			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	477						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGCAGGTGATGATGCTGGCTC	0.517000													3	7					0.115264	0.115763	1	1	0
SLC22A25	387601	broad.mit.edu	37	11	62996003	62996003	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:62996003A>C	ENST00000306494.6	-	2	435	c.436T>G	c.(436-438)Tca>Gca	p.S146A	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	146					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TTAGCTACTGAATTCAGTGGT	0.428000													15	30					0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68434308	68434308	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:68434308G>A	ENST00000545237.1	+	4	1241	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	PIAS1_ENST00000249636.6_Missense_Mutation_p.R165Q			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	165	PINIT.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CAGCGCTTTCGAGAAACCTGT	0.363000													3	6					0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55259989	55259989	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:55259989C>A	ENST00000381298.2	-	6	955	c.643G>T	c.(643-645)Gat>Tat	p.D215Y	IL6ST_ENST00000381287.4_Missense_Mutation_p.D215Y|IL6ST_ENST00000336909.5_Missense_Mutation_p.D215Y|IL6ST_ENST00000502326.3_Missense_Mutation_p.D215Y|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000522633.2_Missense_Mutation_p.D215Y|IL6ST_ENST00000381294.3_Missense_Mutation_p.D215Y|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.D215Y	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	215	Fibronectin type-III 1.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TATACAGGATCAAAATTGATA	0.308000			O		hepatocellular ca								30	38					3.17567e-06	3.38176e-06	1	1	0
FIG4	9896	broad.mit.edu	37	6	110062695	110062695	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:110062695G>T	ENST00000230124.3	+	8	948	c.824G>T	c.(823-825)aGa>aTa	p.R275I	FIG4_ENST00000368941.1_Intron|FIG4_ENST00000441478.2_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	275	SAC.				cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		ATAGCTAGAAGATCCAGTAAA	0.383000													49	71					1.39843e-22	1.83014e-22	1	1	0
C12orf55	144535	broad.mit.edu	37	12	97158891	97158891	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:97158891G>T	ENST00000524981.4	+	60	8199	c.8176G>T	c.(8176-8178)Gga>Tga	p.G2726*						chromosome 12 open reading frame 55																		CTTACTTATTGGAAAGAAGAA	0.303000													32	44					6.00712e-18	7.50257e-18	1	1	0
USP6	9098	broad.mit.edu	37	17	5076100	5076100	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:5076100G>A	ENST00000574788.1	+	38	6278	c.4048G>A	c.(4048-4050)Gaa>Aaa	p.E1350K	USP6_ENST00000304328.5_Splice_Site_p.E1033K|USP6_ENST00000250066.6_Splice_Site_p.E1350K|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1350					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GCCCTTTCAGGAACTTCACCC	0.423000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								40	54					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26622236	26622236	+	Splice_Site	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:26622236T>C	ENST00000264866.4	+	4	498	c.220T>C	c.(220-222)Ttt>Ctt	p.F74L	TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Intron	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	74						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TGCTCCTAGGTTTCCTTTACC	0.373000													23	21					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32845667	32845667	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:32845667G>A	ENST00000311921.4	+	2	2123	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	ZNF507_ENST00000355898.5_Missense_Mutation_p.R644H|ZNF507_ENST00000544431.1_Missense_Mutation_p.R644H	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TACCGTTGCCGCCTGTGTCAC	0.517000													37	48					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952936	119952936	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:119952936G>T	ENST00000307142.4	+	4	3202	c.3006G>T	c.(3004-3006)atG>atT	p.M1002I	SYNPO2_ENST00000429713.2_Missense_Mutation_p.M1002I|SYNPO2_ENST00000434046.2_Missense_Mutation_p.M1002I|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	1002						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCTGGCCATGAAGCAAGCTC	0.532000													43	55					6.5261e-18	8.14312e-18	1	1	0
FCGR1A	2209	broad.mit.edu	37	1	149755718	149755718	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:149755718G>T	ENST00000369168.4	+	3	266	c.212G>T	c.(211-213)aGa>aTa	p.R71I	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	71	Ig-like C2-type 1.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAGCTACAGAATCACCTCT	0.542000													26	38					1.62565e-12	1.88551e-12	1	1	0
TRAM1	23471	broad.mit.edu	37	8	71510443	71510443	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:71510443C>A	ENST00000262213.2	-	3	404	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	TRAM1_ENST00000521049.1_Intron|TRAM1_ENST00000521425.1_5'UTR|TRAM1_ENST00000536748.1_Missense_Mutation_p.D48Y	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	79					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GTAGCCAAATCTTTGATGCCA	0.333000													37	27					3.76114e-14	4.46431e-14	1	1	0
C12orf66	144577	broad.mit.edu	37	12	64588246	64588246	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:64588246T>C	ENST00000311915.8	-	3	741	c.714A>G	c.(712-714)aaA>aaG	p.K238K	C12orf66_ENST00000398055.3_Silent_p.K238K|C12orf66_ENST00000544871.1_Silent_p.K185K			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	238										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CAAACAGATGTTTCTTGGTCT	0.488000													30	35					0	0	1	0	0
RTKN	6242	broad.mit.edu	37	2	74654713	74654713	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:74654713G>A	ENST00000305557.5	-	11	1639	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	RTKN_ENST00000233330.6_Nonsense_Mutation_p.R315*|RTKN_ENST00000272430.5_Nonsense_Mutation_p.R365*	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	365	PH.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						GCCCGGACTCGAGTCTCCTGC	0.547000													73	96					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687591	68687591	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:68687591A>G	ENST00000361320.4	+	2	1495	c.917A>G	c.(916-918)gAc>gGc	p.D306G	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	306						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TCCCTCAATGACATCAGTCTT	0.413000													64	78					0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114340401	114340401	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:114340401T>G	ENST00000261441.5	-	2	1024	c.961A>C	c.(961-963)Aat>Cat	p.N321H		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	321						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATACCCAAATTTAATCGGCAC	0.388000													49	57					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100418332	100418332	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:100418332G>A	ENST00000375147.3	+	14	1594	c.1338G>A	c.(1336-1338)ccG>ccA	p.P446P		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	446					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				GTCCCAAACCGAAGTTTGTAA	0.353000													15	29					0	0	1	0	0
DARS	1615	broad.mit.edu	37	2	136700954	136700954	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:136700954A>C	ENST00000264161.4	-	5	632	c.417T>G	c.(415-417)gtT>gtG	p.V139V	DARS_ENST00000537273.1_Silent_p.V39V	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	139					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TTACCTTCTGAACATGTAACT	0.313000													44	57					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753782	140753782	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140753782C>T	ENST00000517434.1	+	1	132	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGCTCCTTCGTAGGCAACA	0.627000													29	25					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124463	86124463	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:86124463A>G	ENST00000394518.2	+	7	3259	c.3164A>G	c.(3163-3165)gAt>gGt	p.D1055G	AKAP13_ENST00000361243.2_Missense_Mutation_p.D1055G	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1055					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GATGGGTCCGATGCTCTTAAC	0.547000													15	87					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49933232	49933232	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:49933232G>T	ENST00000257981.6	+	1	293	c.33G>T	c.(31-33)caG>caT	p.Q11H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	11					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGGCGCCGCAGAACACCTTCC	0.766000													24	30					2.12542e-12	2.46249e-12	1	1	0
SP3	6670	broad.mit.edu	37	2	174820115	174820115	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:174820115C>T	ENST00000310015.6	-	4	1655	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S	SP3_ENST00000418194.2_Silent_p.S307S|SP3_ENST00000455789.2_Silent_p.S322S	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	375	Transactivation domain (Gln-rich).				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CAGAAACAGGCGACTGGATAT	0.423000													22	23					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129740008	129740008	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:129740008C>T	ENST00000446488.3	-	23	3015	c.2912G>A	c.(2911-2913)cGa>cAa	p.R971Q	NFRKB_ENST00000304521.5_Missense_Mutation_p.R971Q|NFRKB_ENST00000524794.1_Missense_Mutation_p.R996Q|NFRKB_ENST00000524746.1_Missense_Mutation_p.R971Q	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	971					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CGGAGTGATTCGCAGAACCGT	0.547000													65	71					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69934018	69934018	+	Silent	SNP	G	G	A	rs149357638		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:69934018G>A	ENST00000358913.5	+	11	2657	c.2169G>A	c.(2167-2169)ccG>ccA	p.P723P	MYPN_ENST00000540630.1_Silent_p.P723P|MYPN_ENST00000354393.2_Silent_p.P448P	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	723						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TGGCCCGGCCGAAGTATTTCT	0.542000													93	98					0	0	1	0	0
ACAT2	39	broad.mit.edu	37	6	160198433	160198433	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:160198433T>C	ENST00000367048.4	+	7	2617	c.857T>C	c.(856-858)gTg>gCg	p.V286A	ACAT2_ENST00000472052.1_3'UTR|ACAT2_ENST00000541436.1_Missense_Mutation_p.V315A	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	286						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGGTCCCAAGTGGGTGTGGAG	0.438000													33	30					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79777455	79777455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:79777455G>A	ENST00000372371.3	-	10	1446	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	437					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ATCTTTTCTCGATTTCCGTAT	0.443000													53	48					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113418903	113418903	+	Missense_Mutation	SNP	C	C	T	rs149542393		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:113418903C>T	ENST00000297405.5	-	35	5903	c.5659G>A	c.(5659-5661)Gga>Aga	p.G1887R	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1847R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1783R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1817R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1887	Sushi 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTCTTCTTCCGAATCTTGGT	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			46	46					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378241	16378241	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:16378241C>A	ENST00000375679.4	+	14	1445	c.1334C>A	c.(1333-1335)tCt>tAt	p.S445Y	CLCNKB_ENST00000375667.3_Missense_Mutation_p.S276Y	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GAGACTCTCTCTTTTATCTTC	0.637000													63	80					1.84395e-34	2.56022e-34	1	1	0
CCNC	892	broad.mit.edu	37	6	100006310	100006310	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:100006310C>A	ENST00000482541.2	-	5	509	c.409G>T	c.(409-411)Gat>Tat	p.D137Y	CCNC_ENST00000369220.4_Intron|CCNC_ENST00000523985.1_Intron|CCNC_ENST00000520371.1_Intron|CCNC_ENST00000523799.1_Intron|CCNC_ENST00000518714.1_Intron|CCNC_ENST00000521017.1_Intron|CCNC_ENST00000520429.1_Intron			P24863	CCNC_HUMAN	cyclin C	0	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding						all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		AAAAAAAAATCTATGTACTCT	0.299000													15	16					1.3612e-06	1.45828e-06	1	1	0
ADAM23	8745	broad.mit.edu	37	2	207310144	207310144	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:207310144G>T	ENST00000264377.3	+	2	656	c.328G>T	c.(328-330)Gaa>Taa	p.E110*	ADAM23_ENST00000374416.1_Nonsense_Mutation_p.E110*|ADAM23_ENST00000374415.3_Nonsense_Mutation_p.E110*	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	110					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AATGCAGAAAGAAATCACACT	0.393000													68	10					1.84395e-34	2.56022e-34	1	1	0
HLA-DOA	3111	broad.mit.edu	37	6	32974600	32974600	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:32974600C>A	ENST00000450833.2	-	4	813	c.542G>T	c.(541-543)aGa>aTa	p.R181I	HLA-DOA_ENST00000229829.5_3'UTR			P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	0	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CAAGTCATTTCTCTCAGAAGG	0.493000													31	32					4.31634e-10	4.85633e-10	1	1	0
C8orf34	116328	broad.mit.edu	37	8	69688649	69688649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:69688649G>T	ENST00000337103.4	+	10	2679	c.1087G>T	c.(1087-1089)Gga>Tga	p.G363*	C8orf34_ENST00000325233.3_Nonsense_Mutation_p.G132*|C8orf34_ENST00000518698.1_Nonsense_Mutation_p.G474*|C8orf34_ENST00000539993.1_Nonsense_Mutation_p.G388*			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	388					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGCCTCCAGTGGAGTAGGACA	0.408000													24	24					4.87955e-14	5.7841e-14	1	1	0
ABCA8	10351	broad.mit.edu	37	17	66938165	66938165	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:66938165C>A	ENST00000269080.2	-	2	148	c.11G>T	c.(10-12)aGa>aTa	p.R4I	ABCA8_ENST00000430352.2_Missense_Mutation_p.R4I|ABCA8_ENST00000586539.1_Missense_Mutation_p.R4I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	4						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACTGATCTTTCTCTTCCTCAT	0.303000													30	34					5.45727e-16	6.66902e-16	1	1	0
FAM20B	9917	broad.mit.edu	37	1	179041130	179041130	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:179041130G>T	ENST00000263733.4	+	8	1417	c.1081G>T	c.(1081-1083)Gac>Tac	p.D361Y		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	361						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CATGGCCCATGACCCCATCTC	0.542000													49	72					2.9001e-28	3.94044e-28	1	1	0
PLA2G7	7941	broad.mit.edu	37	6	46690525	46690525	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:46690525G>A	ENST00000274793.7	-	2	300	c.104C>T	c.(103-105)tCa>tTa	p.S35L	PLA2G7_ENST00000538237.1_Intron|PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000537365.1_Missense_Mutation_p.S35L	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	35					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			CTTACCTGATGATTTCATATG	0.463000													18	19					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88752057	88752057	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:88752057G>T	ENST00000433214.2	+	0	418																											AGGACCAAAAGAAACACAGAA	0.413000													14	27					0.000219431	0.00022692	1	1	0
AQP11	282679	broad.mit.edu	37	11	77314646	77314646	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:77314646C>T	ENST00000313578.3	+	2	1023	c.665C>T	c.(664-666)tCg>tTg	p.S222L	AQP11_ENST00000528638.1_3'UTR	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	222						cell surface|integral to membrane	transporter activity			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			TTGGCACTTTCGCTACATTTC	0.353000													55	78					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106857720	106857720	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:106857720G>A	ENST00000286398.7	+	2	343	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	SMC2_ENST00000374793.3_Missense_Mutation_p.E19K|SMC2_ENST00000303219.8_Missense_Mutation_p.E19K|SMC2_ENST00000374787.3_Missense_Mutation_p.E19K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	19					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TCAGAGGACCGAAGTCAATGG	0.428000													27	35					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160753387	160753387	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:160753387G>A	ENST00000274547.2	-	10	1396	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000393959.1_Silent_p.F393F|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000520240.1_Intron	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	393					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TATACAGAGAGAAATCGTaat	0.373000													35	35					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85446011	85446011	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:85446011G>T	ENST00000393217.2	+	7	796	c.735G>T	c.(733-735)gaG>gaT	p.E245D		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	245	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTGGAAAGAGAAATTTAAAC	0.259000													20	46					7.87624e-14	9.31353e-14	1	1	0
CTD-2090I13.1	0	broad.mit.edu	37	1	227618480	227618480	+	RNA	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:227618480A>G	ENST00000445817.1	+	0	1715																											CTGGTTCTTGAACAGACAGAA	0.493000													11	16					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85576626	85576626	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:85576626C>T	ENST00000295802.4	-	5	990	c.878G>A	c.(877-879)cGa>cAa	p.R293Q	RETSAT_ENST00000263854.6_Missense_Mutation_p.R293Q|RETSAT_ENST00000457495.2_Missense_Mutation_p.R232Q	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	293					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GGAACCCCCTCGGGGATAAAA	0.577000													45	61					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17629115	17629115	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:17629115C>A	ENST00000262077.2	-	18	3314	c.3315G>T	c.(3313-3315)gaG>gaT	p.E1105D	NUP153_ENST00000537253.1_Missense_Mutation_p.E1136D	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1105					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTTGCTGTTTCTCTTCTGTCC	0.468000													34	35					6.00712e-18	7.50257e-18	1	1	0
DDX10	1662	broad.mit.edu	37	11	108562619	108562619	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:108562619G>A	ENST00000526794.1	+	8	1024	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	DDX10_ENST00000322536.3_Missense_Mutation_p.R331Q			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	331	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TATCTGTACCGAGTGTTTTGC	0.453000			T	NUP98	AML*								42	50					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66998604	66998604	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:66998604G>A	ENST00000303334.4	+	6	864	c.793G>A	c.(793-795)Gac>Aac	p.D265N	CES3_ENST00000394037.1_Missense_Mutation_p.D265N	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	265						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGGGATCATCGACTCTCACCC	0.592000													43	53					0	0	1	0	0
ACTL6A	86	broad.mit.edu	37	3	179304347	179304347	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:179304347A>C	ENST00000429709.2	+	13	1349	c.1136A>C	c.(1135-1137)aAa>aCa	p.K379T	ACTL6A_ENST00000450518.2_Missense_Mutation_p.K337T|ACTL6A_ENST00000392662.1_Missense_Mutation_p.K337T	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	379					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			ATGCGGTTGAAATTGATTGCA	0.333000													26	29					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52646086	52646086	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:52646086C>T	ENST00000355568.4	-	21	2057	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	640							ATP binding|metal ion binding|protein serine/threonine kinase activity			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)		ATACCTGCTTCTGGGCAGTGA	0.403000													15	19					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138727777	138727777	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:138727777G>A	ENST00000520602.1	-	4	466	c.181C>T	c.(181-183)Cga>Tga	p.R61*	MCF2_ENST00000370578.4_Nonsense_Mutation_p.R146*|MCF2_ENST00000414978.1_Nonsense_Mutation_p.R61*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.R61*			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	0	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCCAATCTTCGATCCAGAATA	0.294000													15	2					0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180327879	180327879	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:180327879G>A	ENST00000296015.4	+	12	1994	c.1862G>A	c.(1861-1863)aGa>aAa	p.R621K	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000465625.1_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	621							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAATCAGAAAGACATTTTTCC	0.353000													70	99					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95068066	95068066	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:95068066C>T	ENST00000545558.1	-	12	3364	c.2872G>A	c.(2872-2874)Gaa>Aaa	p.E958K	NOL8_ENST00000542053.1_Missense_Mutation_p.E890K|NOL8_ENST00000442668.2_Missense_Mutation_p.E958K|NOL8_ENST00000535387.1_Missense_Mutation_p.E920K|NOL8_ENST00000358855.4_Missense_Mutation_p.E890K			Q76FK4	NOL8_HUMAN	nucleolar protein 8	958					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTTTTTCTTTCGTAAGTGGCA	0.333000													17	18					0	0	1	0	0
ID3	3399	broad.mit.edu	37	1	23885911	23885911	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:23885911C>T	ENST00000374561.5	-	1	374	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	3					negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GGGCTCAGCGCCTTCATGCTG	0.672000													24	24					0	0	1	0	0
TAGLN	6876	broad.mit.edu	37	11	117073907	117073907	+	Missense_Mutation	SNP	G	G	A	rs149213147	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:117073907G>A	ENST00000532870.1	+	1	1319	c.178G>A	c.(178-180)Gtg>Atg	p.V60M	TAGLN_ENST00000530649.1_Missense_Mutation_p.V60M|TAGLN_ENST00000392951.4_Missense_Mutation_p.V60M			Q01995	TAGL_HUMAN	transgelin	60	CH.				muscle organ development	cytoplasm	actin binding			central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		GAAGAATGGCGTGGTGAGTGG	0.657000													25	35					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364131	22364131	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:22364131T>C	ENST00000397121.2	-	3	705	c.388A>G	c.(388-390)Aga>Gga	p.R130G		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATCTTATGTCTGTTTGAATTT	0.313000													53	60					0	0	1	0	0
NDUFS2	4720	broad.mit.edu	37	1	161176243	161176243	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:161176243C>A	ENST00000392179.4	+	3	488	c.249C>A	c.(247-249)aaC>aaA	p.N83K	NDUFS2_ENST00000367993.3_Missense_Mutation_p.N83K|NDUFS2_ENST00000476409.2_5'UTR	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	83					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	TTACCCTGAACTTTGGGCCCC	0.522000													6	51					5.9392e-07	6.40003e-07	1	1	0
JPH3	57338	broad.mit.edu	37	16	87678381	87678381	+	Silent	SNP	C	C	T	rs139015848		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:87678381C>T	ENST00000284262.2	+	2	1142	c.900C>T	c.(898-900)ttC>ttT	p.F300F		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	300					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCTCCGGCTTCGGCGTGAGCC	0.677000													42	51					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31793005	31793005	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:31793005C>A	ENST00000396193.1	-	19	2896	c.2303G>T	c.(2302-2304)aGa>aTa	p.R768I	PDE1C_ENST00000321453.7_Missense_Mutation_p.R708I|PDE1C_ENST00000396191.1_Missense_Mutation_p.R708I	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	708					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GGCCTATTTTCTGTTCCAGTT	0.478000													97	148					1.09269e-41	1.53917e-41	1	1	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99025731	99025731	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:99025731C>T	ENST00000453547.2	-	2	207	c.208G>A	c.(208-210)Gat>Aat	p.D70N	ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.D70N|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.D70N|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.D61N|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.D61N|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.D70N																							CCAGGTAAATCGATGAGCCTT	0.493000													42	53					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129373935	129373935	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:129373935A>G	ENST00000393238.3	-	5	1863	c.1523T>C	c.(1522-1524)tTg>tCg	p.L508S	TMCC1_ENST00000432054.2_Missense_Mutation_p.L184S|TMCC1_ENST00000329333.5_Missense_Mutation_p.L329S|TMCC1_ENST00000426664.2_Missense_Mutation_p.L394S	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	508						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGTTCTTCCAATCGTTCACA	0.368000													9	54					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128494915	128494915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:128494915G>T	ENST00000325888.8	+	42	7345	c.7084G>T	c.(7084-7086)Gag>Tag	p.E2362*	FLNC_ENST00000346177.6_Nonsense_Mutation_p.E2329*|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2362					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GATTGCATTTGAGGATCGCAA	0.632000													44	64					1.23103e-26	1.65159e-26	1	1	0
ABCB8	11194	broad.mit.edu	37	7	150725686	150725686	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:150725686C>A	ENST00000358849.4	+	1	177	c.84C>A	c.(82-84)ttC>ttA	p.F28L	ABCB8_ENST00000542328.1_Missense_Mutation_p.L45I|ABCB8_ENST00000356058.4_Missense_Mutation_p.F28L|ABCB8_ENST00000477092.1_Missense_Mutation_p.F28L|ABCB8_ENST00000477719.1_Missense_Mutation_p.F28L|ABCB8_ENST00000297504.6_Missense_Mutation_p.F28L|ABCB8_ENST00000498578.1_Missense_Mutation_p.F28L	NM_001282291.1|NM_001282293.1|NM_007188.3	NP_001269220.1|NP_001269222.1|NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	28						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCAGACATTCTCAGCTGTCA	0.612000											OREG0018445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	16					7.87624e-14	9.31353e-14	1	1	0
HSPA2	3306	broad.mit.edu	37	14	65008103	65008103	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:65008103C>T	ENST00000247207.6	+	1	918	c.536C>T	c.(535-537)gCg>gTg	p.A179V	HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000394709.1_Missense_Mutation_p.A179V	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	179					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GAGCCCACGGCGGCGGCCATC	0.647000													48	67					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100209921	100209921	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:100209921G>A	ENST00000409236.2	-	13	2314	c.2202C>T	c.(2200-2202)atC>atT	p.I734I	AFF3_ENST00000317233.4_Silent_p.I734I|AFF3_ENST00000409579.1_Silent_p.I759I|AFF3_ENST00000356421.2_Silent_p.I759I			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCTCCTTGGCGATGTCACTGG	0.602000													48	64					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95538575	95538575	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:95538575C>A	ENST00000297591.5	-	8	1972	c.1897G>T	c.(1897-1899)Gaa>Taa	p.E633*	KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.E633*|KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.E633*	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	633					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGAAAAACTTCTTCTAGGAGG	0.393000													40	40					1.57019e-19	1.99758e-19	1	1	0
COBL	23242	broad.mit.edu	37	7	51096733	51096733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:51096733G>T	ENST00000395542.2	-	12	2490	c.2306C>A	c.(2305-2307)tCa>tAa	p.S769*	COBL_ENST00000265136.7_Nonsense_Mutation_p.S687*			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	687										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTGGTGCCATGATGTTGGTGC	0.493000													33	54					5.8336e-16	7.11913e-16	1	1	0
AADACL2	344752	broad.mit.edu	37	3	151475377	151475377	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:151475377T>G	ENST00000356517.3	+	5	1310	c.1201T>G	c.(1201-1203)Tta>Gta	p.L401V	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	401						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGATAAGAATTTATAAATATG	0.323000													30	33					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731658	92731658	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:92731658T>G	ENST00000379958.2	-	3	4022	c.3753A>C	c.(3751-3753)aaA>aaC	p.K1251N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1251						cytoplasm				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)			GAATATAGTTTTTGAGGGCTA	0.274000													31	34					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151670865	151670865	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:151670865T>G	ENST00000402676.2	+	4	1579	c.1339T>G	c.(1339-1341)Ttg>Gtg	p.L447V	AKAP12_ENST00000359755.5_Missense_Mutation_p.L342V|AKAP12_ENST00000253332.1_Missense_Mutation_p.L447V|AKAP12_ENST00000354675.6_Missense_Mutation_p.L349V	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	447	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGCTGAAGAATTGGTTGAAAT	0.542000													40	50					0	0	1	0	0
MFGE8	4240	broad.mit.edu	37	15	89450443	89450443	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:89450443C>T	ENST00000539437.1	-	4	482	c.346G>A	c.(346-348)Gat>Aat	p.D116N	MFGE8_ENST00000559997.1_5'UTR|MFGE8_ENST00000268150.8_Missense_Mutation_p.D124N|MFGE8_ENST00000542878.1_Missense_Mutation_p.D80N|MFGE8_ENST00000566497.1_Missense_Mutation_p.D124N|MFGE8_ENST00000268151.7_Missense_Mutation_p.D124N			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	124	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAGGGGTTATCGTCATTGCTG	0.607000													18	15					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57870188	57870188	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:57870188A>C	ENST00000393797.2	-	11	1480	c.1288T>G	c.(1288-1290)Ttc>Gtc	p.F430V	ARHGAP9_ENST00000356411.2_Missense_Mutation_p.F359V|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.F359V|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.F438V|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.F175V|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.F359V			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	359	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCTCGGTAGAACACCAGGCTG	0.627000													19	23					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2983165	2983165	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:2983165G>A	ENST00000342628.2	-	2	593	c.480C>T	c.(478-480)tgC>tgT	p.C160C	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Silent_p.C160C|FOXM1_ENST00000359843.3_Silent_p.C160C	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	160					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GTTTCTGCTCGCAAAGGGCTC	0.542000													38	64					0	0	1	0	0
FAM57B	83723	broad.mit.edu	37	16	30037953	30037953	+	Silent	SNP	G	G	A	rs144812777		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:30037953G>A	ENST00000380495.4	-	3	1152	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	FAM57B_ENST00000564806.1_Silent_p.L91L|FAM57B_ENST00000279389.4_Silent_p.L91L	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	141	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AAGCACACCAGCACCATGGCG	0.697000													18	17					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134254187	134254187	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:134254187G>T	ENST00000457545.2	+	5	601	c.341G>T	c.(340-342)aGa>aTa	p.R114I	AKR1B15_ENST00000423958.1_Missense_Mutation_p.R86I	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	114							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TTCTTTGAGAGACCCCTTGTG	0.468000													42	58					2.24893e-16	2.76095e-16	1	1	0
NELFCD	51497	broad.mit.edu	37	20	57566943	57566943	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:57566943G>A	ENST00000602795.1	+	10	1199	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	NELFCD_ENST00000344018.3_Missense_Mutation_p.R375Q|NELFCD_ENST00000479207.1_3'UTR	NM_198976.2	NP_945327.2			negative elongation factor complex member C/D																		CAGAACAAGCGAGTGAGCATC	0.488000													22	17					0	0	1	0	0
MIR526A1	574475	broad.mit.edu	37	19	54209584	54209584	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:54209584C>A	ENST00000384897.1	+	0	79					NR_030197.1																						GAGGATTACTCTTTGAGAAAA	0.413000													31	37					2.4375e-19	3.09652e-19	1	1	0
CUL7	9820	broad.mit.edu	37	6	43006171	43006171	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:43006171G>A	ENST00000535468.1	-	25	4945	c.4859C>T	c.(4858-4860)tCg>tTg	p.S1620L	CUL7_ENST00000265348.3_Missense_Mutation_p.S1536L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1536					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTCCCATCTCGACCTGGGTTC	0.557000													44	37					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121783661	121783661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:121783661C>A	ENST00000261819.3	-	4	692	c.571G>T	c.(571-573)Gaa>Taa	p.E191*	ANAPC5_ENST00000536366.1_Nonsense_Mutation_p.E70*|ANAPC5_ENST00000344395.4_Nonsense_Mutation_p.E92*|ANAPC5_ENST00000441917.2_Nonsense_Mutation_p.E92*|ANAPC5_ENST00000541887.1_Nonsense_Mutation_p.E191*	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	191					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACATCAAGTTCTTCTTTTTCC	0.378000													76	84					3.76054e-38	5.26376e-38	1	1	0
ROR1	4919	broad.mit.edu	37	1	64643554	64643554	+	Missense_Mutation	SNP	C	C	A	rs66830447		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:64643554C>A	ENST00000371079.1	+	9	2205	c.1830C>A	c.(1828-1830)ttC>ttA	p.F610L	ROR1_ENST00000545203.1_Missense_Mutation_p.F61L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	610	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CTAGTCACTTCTTTGTCCACA	0.453000													27	41					3.96558e-24	5.24255e-24	1	1	0
GPT2	84706	broad.mit.edu	37	16	46962903	46962903	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:46962903C>T	ENST00000440783.2	+	12	1931	c.1266C>T	c.(1264-1266)taC>taT	p.Y422Y	GPT2_ENST00000340124.4_Silent_p.Y522Y	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	522					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGGAGAAGTACGCGTGAGGAC	0.597000													17	33					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31810404	31810404	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:31810404G>A	ENST00000446923.2	+	7	2484	c.2093G>A	c.(2092-2094)aGa>aAa	p.R698K	ZEB1_ENST00000560721.2_Missense_Mutation_p.R694K|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.R715K|ZEB1_ENST00000542815.3_Missense_Mutation_p.R647K|ZEB1_ENST00000320985.10_Missense_Mutation_p.R714K	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	714					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TCCTCATCCAGAAATACACAG	0.443000													41	40					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49831354	49831354	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:49831354G>T	ENST00000527477.1	+	0	1579																											GGAGATTTGAGAAGCATTTGT	0.358000													21	13					0.00121646	0.00124518	1	1	0
CRTAC1	55118	broad.mit.edu	37	10	99655723	99655723	+	Silent	SNP	G	G	A	rs145632263		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:99655723G>A	ENST00000370597.3	-	10	1591	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	CRTAC1_ENST00000298819.4_Silent_p.F412F|CRTAC1_ENST00000370591.2_Silent_p.F412F	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	412						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CGTCTCCGTCGAAGTCGGTCA	0.572000													40	39					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129521008	129521008	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:129521008G>A	ENST00000305031.4	+	3	2531	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	725						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GATCTTCAGAGAAGATTTTCT	0.433000													38	75					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61908265	61908265	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:61908265C>T	ENST00000394818.3	+	9	1635	c.1433C>T	c.(1432-1434)aCc>aTc	p.T478I	INCENP_ENST00000278849.4_Missense_Mutation_p.T478I	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	478					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGGAGCAAGACCCCTTCCTCA	0.667000													14	8					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46812089	46812089	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:46812089G>A	ENST00000529230.1	-	14	1741	c.1695C>T	c.(1693-1695)ggC>ggT	p.G565G	CKAP5_ENST00000354558.3_Silent_p.G565G|CKAP5_ENST00000312055.5_Silent_p.G565G|CKAP5_ENST00000415402.1_Silent_p.G565G			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	565					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TATTCCCTGCGCCTCCTGGTG	0.423000													26	13					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865810	47865810	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:47865810G>A	ENST00000396105.1	-	14	3997	c.3751C>T	c.(3751-3753)Cga>Tga	p.R1251*	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Nonsense_Mutation_p.R1251*	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1251							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTGTTCTCTCGAAGTGTATGA	0.517000													7	81					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200956033	200956033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:200956033G>A	ENST00000332129.2	-	26	3944	c.3628C>T	c.(3628-3630)Cga>Tga	p.R1210*	KIF21B_ENST00000360529.5_Nonsense_Mutation_p.R1210*|KIF21B_ENST00000422435.2_Nonsense_Mutation_p.R1210*|KIF21B_ENST00000461742.2_Nonsense_Mutation_p.R1210*	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1210					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCTGTGGCTCGAGATTGCCTA	0.562000													27	39					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5020791	5020791	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:5020791G>A	ENST00000382545.3	+	2	1354	c.247G>A	c.(247-249)Gac>Aac	p.D83N	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	83					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTACTTCTTCGACCGCAACCG	0.632000													44	77					0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91450046	91450046	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:91450046T>C	ENST00000266719.3	-	2	260	c.13A>G	c.(13-15)Atc>Gtc	p.I5V		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	5					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						ATGAAACAGATTGTGCCTGCC	0.358000													20	35					0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40191557	40191557	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:40191557C>T	ENST00000360214.3	+	9	1402	c.942C>T	c.(940-942)ttC>ttT	p.F314F	ETS2_ENST00000360938.3_Silent_p.F314F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	314					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TCGAGAGCTTCGAAGATGACT	0.547000													21	27					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328324	80328324	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:80328324T>C	ENST00000358842.3	-	1	1048	c.1031A>G	c.(1030-1032)gAc>gGc	p.D344G		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	344					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TCTTTCAATGTCTCCTGAGGT	0.433000													70	74					0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72178240	72178240	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:72178240T>G	ENST00000324262.4	+	6	965	c.649T>G	c.(649-651)Ttc>Gtc	p.F217V	CNDP2_ENST00000579847.1_Missense_Mutation_p.F217V|CNDP2_ENST00000324301.8_Missense_Mutation_p.F133V	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	217						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TTGCTACTTTTTCATCGAGGT	0.488000													12	18					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249918	52249918	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:52249918G>A	ENST00000595042.1	-	3	471	c.330C>T	c.(328-330)ttC>ttT	p.F110F	FPR1_ENST00000304748.4_Silent_p.F110F	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	110					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AGACACTTCCGAACAAGTTGA	0.542000													46	57					0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100432575	100432575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:100432575C>T	ENST00000240851.4	+	2	386	c.46C>T	c.(46-48)Caa>Taa	p.Q16*	TFG_ENST00000476228.1_Nonsense_Mutation_p.Q16*|TFG_ENST00000490574.1_Nonsense_Mutation_p.Q16*|TFG_ENST00000418917.2_Nonsense_Mutation_p.Q16*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	16					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CATCAAAGCTCAACTTGGGGA	0.378000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								40	45					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33577698	33577698	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:33577698C>T	ENST00000262873.7	+	18	1961	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	581	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.F623F(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGCCCACTTCGAGGTGGTCC	0.657000													28	30					0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79118371	79118371	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:79118371C>A	ENST00000442371.1	+	3	2013	c.1074C>A	c.(1072-1074)taC>taA	p.Y358*	GCNT1_ENST00000444201.2_Nonsense_Mutation_p.Y358*|GCNT1_ENST00000376730.4_Nonsense_Mutation_p.Y358*|GCNT1_ENST00000536223.1_Nonsense_Mutation_p.Y358*	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	358	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						AGTGGCAGTACTTTGAGGGTG	0.542000													22	49					1.40151e-16	1.72377e-16	1	1	0
SERP1	27230	broad.mit.edu	37	3	150263499	150263499	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:150263499A>C	ENST00000479209.1	-	3	1423	c.151T>G	c.(151-153)Tgt>Ggt	p.C51G	SERP1_ENST00000487153.1_Intron|SERP1_ENST00000239944.2_Missense_Mutation_p.C51G|SERP1_ENST00000491660.1_Missense_Mutation_p.C51G			Q9Y6X1	SERP1_HUMAN	stress-associated endoplasmic reticulum protein 1	51					plasma membrane organization|protein glycosylation|protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane|ribosome				large_intestine(1)|lung(3)	4			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCAGAACCACAGACAACAAAA	0.507000													7	14					0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154732195	154732195	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:154732195C>T	ENST00000607772.1	-	11	1696	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P	CNKSR3_ENST00000433165.2_Silent_p.P209P|CNKSR3_ENST00000479339.1_Silent_p.P304P	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	384	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		AGAAGGAATTCGGGGACTCTG	0.493000													51	69					0	0	1	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106710731	106710731	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:106710731G>A	ENST00000265717.4	+	2	572	c.313G>A	c.(313-315)Gta>Ata	p.V105I	PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	105	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TTTAGCTCCAGTAATAAACCG	0.294000													17	23					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170042058	170042058	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:170042058G>A	ENST00000284637.9	-	8	1770	c.1429C>T	c.(1429-1431)Cgc>Tgc	p.R477C	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	477	Interaction with AKT2 (By similarity).|SH3 3.					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)		TCCTGGCAGCGCTCAAACACT	0.433000													38	36					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164776954	164776954	+	Splice_Site	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:164776954A>G	ENST00000264382.3	-	11	1341		c.e11+1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATTGATTATTACCAAGATGAT	0.333000										HNSCC(35;0.089)			11	13					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94089061	94089061	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:94089061G>A	ENST00000553484.1	+	31	5702	c.5548G>A	c.(5548-5550)Gaa>Aaa	p.E1850K	UNC79_ENST00000393151.2_Missense_Mutation_p.E1828K|UNC79_ENST00000555664.1_Missense_Mutation_p.E1828K|UNC79_ENST00000256339.4_Missense_Mutation_p.E1651K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1828						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						TGAGGAATCCGAATTTAAGAT	0.468000													20	33					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55432693	55432693	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:55432693G>T	ENST00000314259.3	+	1	80	c.51G>T	c.(49-51)gaG>gaT	p.E17D		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTCTCACAGAGAACCTGGAGC	0.378000													36	70					6.90743e-12	7.95622e-12	1	1	0
RARS	5917	broad.mit.edu	37	5	167933179	167933179	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:167933179T>G	ENST00000231572.3	+	10	1265	c.1211T>G	c.(1210-1212)aTt>aGt	p.I404S	RARS_ENST00000538719.1_Missense_Mutation_p.I198S	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	404					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GCAGATATGATTATCTATGTT	0.348000													8	71					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11725280	11725280	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:11725280C>T	ENST00000262442.4	+	46	8819	c.8751C>T	c.(8749-8751)atC>atT	p.I2917I	DNAH9_ENST00000454412.2_Silent_p.I2917I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGAAAACATCATAAGCAATG	0.458000													24	29					0	0	1	0	0
RYK	6259	broad.mit.edu	37	3	133910696	133910696	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:133910696C>A	ENST00000427044.2	-	9	1055	c.445G>T	c.(445-447)Gaa>Taa	p.E149*	RYK_ENST00000296084.4_Nonsense_Mutation_p.E339*			P34925	RYK_HUMAN	receptor-like tyrosine kinase	335	WIF.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						TAAATACCTTCTTGGAGTACA	0.328000													11	10					0.0135373	0.0137121	1	1	0
SNAP91	9892	broad.mit.edu	37	6	84375280	84375280	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:84375280C>T	ENST00000428679.2	-	3	744	c.151G>A	c.(151-153)Gag>Aag	p.E51K	SNAP91_ENST00000521743.1_Missense_Mutation_p.E51K|SNAP91_ENST00000521485.1_Missense_Mutation_p.E51K|SNAP91_ENST00000439399.2_Missense_Mutation_p.E51K|SNAP91_ENST00000520213.1_Missense_Mutation_p.E51K|SNAP91_ENST00000369694.2_Missense_Mutation_p.E51K|SNAP91_ENST00000195649.6_Missense_Mutation_p.E51K|SNAP91_ENST00000520302.1_Missense_Mutation_p.E51K|SNAP91_ENST00000437520.1_Missense_Mutation_p.E51K			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	51	ENTH.				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)		ACATTGGTCTCGTTGGTAGCC	0.368000													51	56					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651988	96651988	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:96651988G>A	ENST00000302103.5	+	3	1283	c.957G>A	c.(955-957)agG>agA	p.R319R		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	319					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TTAACTGGAGGAAGGATTTCA	0.368000													28	33					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279629	114279629	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:114279629C>T	ENST00000357077.4	+	38	9908	c.9855C>T	c.(9853-9855)atC>atT	p.I3285I	ANK2_ENST00000264366.6_Silent_p.I3252I|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3252					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATCAGTAATCGAGATTCCTA	0.448000													53	61					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49381547	49381547	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:49381547G>A	ENST00000406846.2	-	1	129	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	FSHR_ENST00000304421.4_Missense_Mutation_p.L4F|FSHR_ENST00000346173.3_Missense_Mutation_p.L4F	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	4					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GAGACCAGGAGCAGGGCCATA	0.488000									Gonadal Dysgenesis, 46 XX				18	32					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2234831	2234831	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:2234831G>T	ENST00000343516.6	-	14	1455	c.1363C>A	c.(1363-1365)Cag>Aag	p.Q455K	CASKIN1_ENST00000564289.1_5'UTR	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	455	CASK-binding (By similarity).				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCATAGACCTGCCCGGCGTGG	0.687000													12	21					9.31168e-06	9.8413e-06	1	1	0
NAV3	89795	broad.mit.edu	37	12	78583819	78583819	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:78583819A>G	ENST00000397909.2	+	34	6284	c.6111A>G	c.(6109-6111)ccA>ccG	p.P2037P	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Silent_p.P1838P|NAV3_ENST00000536525.2_Silent_p.P2015P|NAV3_ENST00000228327.6_Silent_p.P2015P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2037						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTCCTAAACCAATTACCCAAA	0.358000										HNSCC(70;0.22)			38	45					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169223568	169223568	+	Splice_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:169223568C>A	ENST00000393743.3	-	6	898		c.e6-1			NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60								ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCTGCTTATTCTGTAAAATAA	0.254000													6	6					1	1	1	1	0
RASSF9	9182	broad.mit.edu	37	12	86198958	86198958	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:86198958C>T	ENST00000361228.3	-	2	1198	c.830G>A	c.(829-831)cGa>cAa	p.R277Q		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	277					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATGAGTATTCGGTAATATTT	0.408000													55	63					0	0	1	0	0
GLI4	2738	broad.mit.edu	37	8	144358716	144358716	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:144358716T>C	ENST00000340042.1	+	4	958	c.873T>C	c.(871-873)ggT>ggC	p.G291G	GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Silent_p.G291G	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	291						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TGCACACGGGTGAGAAGCCCT	0.652000													21	14					0	0	1	0	0
RILPL1	353116	broad.mit.edu	37	12	123983217	123983217	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:123983217C>A	ENST00000376874.4	-	4	910	c.675G>T	c.(673-675)caG>caT	p.Q225H	RILPL1_ENST00000340724.6_Missense_Mutation_p.Q73H	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	225					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GCTCCACCTTCTGTTCGATCA	0.612000													60	88					2.18419e-29	2.98292e-29	1	1	0
TOR1AIP2	163590	broad.mit.edu	37	1	179816690	179816690	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:179816690T>G	ENST00000367612.3	-	5	1022	c.635A>C	c.(634-636)aAa>aCa	p.K212T	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.K212T	NM_145034.4	NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	212						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						AAAACCCTTTTTATTAATCTG	0.383000													30	39					0	0	1	0	0
VAMP7	6845	broad.mit.edu	37	X	155169448	155169448	+	Missense_Mutation	SNP	C	C	T	rs138653672		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:155169448C>T	ENST00000262640.6	+	6	600	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	VAMP7_ENST00000286448.6_Silent_p.I195I|VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000460621.1_Silent_p.I154I	NM_001185183.1	NP_001172112.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	0	v-SNARE coiled-coil homology.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCATCATCATCGTATCAATTG	0.348000													66	70					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56330352	56330352	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:56330352C>T	ENST00000288221.6	-	3	1024	c.769G>A	c.(769-771)Gag>Aag	p.E257K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	257						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCGGTCAGCTCGATGGTGAAG	0.557000													88	107					0	0	1	0	0
CNOT7	29883	broad.mit.edu	37	8	17094804	17094804	+	Silent	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:17094804T>G	ENST00000361272.4	-	4	688	c.390A>C	c.(388-390)ggA>ggC	p.G130G	CNOT7_ENST00000523917.1_Silent_p.G130G	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	130					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		GGGTTTCAATTCCTTCCTCCT	0.423000													46	46					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102835524	102835524	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:102835524G>A	ENST00000264257.2	+	7	962	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	IL1RL2_ENST00000441515.2_Missense_Mutation_p.R161Q|IL1RL2_ENST00000539491.1_Missense_Mutation_p.R279Q|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	279	Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GAATCCAAACGAATCAGAGAA	0.403000													42	57					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214811311	214811311	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:214811311A>C	ENST00000366955.3	+	11	1717	c.1549A>C	c.(1549-1551)Aat>Cat	p.N517H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	517					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACAGTGTTTAAATCAGAGCCA	0.418000													4	84					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45819208	45819208	+	Missense_Mutation	SNP	G	G	A	rs150593294		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:45819208G>A	ENST00000397928.1	+	14	2537	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	TRPM2_ENST00000300482.5_Missense_Mutation_p.E698K|TRPM2_ENST00000397932.2_Missense_Mutation_p.E698K|TRPM2_ENST00000300481.9_Missense_Mutation_p.E678K|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	698						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCGGAAGGACGAAGAGAGAGC	0.627000													43	50					0	0	1	0	0
SHMT1	6470	broad.mit.edu	37	17	18250849	18250849	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:18250849G>T	ENST00000316694.3	-	5	614	c.480C>A	c.(478-480)atC>atA	p.I160I	SHMT1_ENST00000354098.3_Silent_p.I160I|SHMT1_ENST00000539052.1_Silent_p.I22I|SHMT1_ENST00000352886.6_Silent_p.I160I	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	160					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	ACGTGGCAGAGATTTTCTTCT	0.517000													70	82					5.05157e-50	7.19744e-50	1	1	0
CLCA1	1179	broad.mit.edu	37	1	86965723	86965723	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:86965723G>A	ENST00000234701.3	+	15	3091	c.2740G>A	c.(2740-2742)Gcc>Acc	p.A914T	CLCA1_ENST00000394711.1_Missense_Mutation_p.A914T			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	914					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)		GCTGTCAATAGCCTAGGGCTG	0.338000													26	29					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136944088	136944088	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:136944088C>T	ENST00000359015.4	-	15	2408	c.2048G>A	c.(2047-2049)aGa>aAa	p.R683K	MAP3K5_ENST00000355845.4_Intron	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	683	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TAAAACGACTCTGTCACCATT	0.378000													59	71					0	0	1	0	0
EXOSC9	5393	broad.mit.edu	37	4	122722628	122722628	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:122722628G>A	ENST00000379663.3	+	1	154	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	EXOSC9_ENST00000243498.5_Missense_Mutation_p.A17T|EXOSC9_ENST00000509980.1_3'UTR	NM_001034194.1	NP_001029366.1	Q06265	EXOS9_HUMAN	exosome component 9	17	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CCTACTCCGTGCCATCGAAGA	0.612000													47	55					0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59190145	59190145	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:59190145G>T	ENST00000302040.4	-	1	304	c.282C>A	c.(280-282)tcC>tcA	p.S94S		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						AGCCAACAAAGGAAATGGTTT	0.502000													27	53					9.80776e-20	1.25071e-19	1	1	0
NRIP1	8204	broad.mit.edu	37	21	16339360	16339360	+	Missense_Mutation	SNP	T	T	G	rs141964395		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:16339360T>G	ENST00000400202.1	-	3	1866	c.1154A>C	c.(1153-1155)aAa>aCa	p.K385T	NRIP1_ENST00000318948.4_Missense_Mutation_p.K385T|NRIP1_ENST00000400199.1_Missense_Mutation_p.K385T			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	385					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AGTCTGGCTTTTAAGAAGATG	0.353000													68	66					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65294551	65294551	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:65294551G>A	ENST00000524944.1	+	6	845	c.812G>A	c.(811-813)cGc>cAc	p.R271H	SCYL1_ENST00000420247.2_Missense_Mutation_p.R271H|SCYL1_ENST00000525364.1_Missense_Mutation_p.R271H|SCYL1_ENST00000533862.1_Missense_Mutation_p.R271H|SCYL1_ENST00000527009.1_Missense_Mutation_p.R128H|SCYL1_ENST00000270176.5_Missense_Mutation_p.R271H|SCYL1_ENST00000279270.6_Missense_Mutation_p.R271H			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	271	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						ATGAGCAACCGCTTTGTAGAA	0.582000													45	32					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102751096	102751096	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:102751096C>T	ENST00000504592.1	+	6	575	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	BANK1_ENST00000444316.2_Missense_Mutation_p.R38W|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000322953.4_Missense_Mutation_p.R68W|BANK1_ENST00000428908.1_Intron			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	68	Interaction with ITPR2.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TTTCTCTTTTCGGCATTTGGA	0.373000													19	43					0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146042527	146042527	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:146042527T>G	ENST00000296577.4	+	13	1762	c.1247T>G	c.(1246-1248)aTt>aGt	p.I416S	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	416	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CCACAGAAAATTAGTCCCAAA	0.269000													46	51					0	0	1	0	0
RPSA	3921	broad.mit.edu	37	3	39453486	39453486	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:39453486C>T	ENST00000301821.6	+	6	836	c.727C>T	c.(727-729)Cct>Tct	p.P243S	RPSA_ENST00000443003.1_Missense_Mutation_p.P248S|RPSA_ENST00000478027.1_3'UTR	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	243	Laminin-binding.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		TGCTACTCAGCCTGAGGTTGC	0.502000													32	56					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70961004	70961004	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:70961004A>C	ENST00000322954.6	-	16	2204	c.2019T>G	c.(2017-2019)aaT>aaG	p.N673K	UACA_ENST00000560441.1_Missense_Mutation_p.N658K|UACA_ENST00000379983.2_Missense_Mutation_p.N660K|UACA_ENST00000539319.1_Missense_Mutation_p.N564K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	673						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGGCCTTAACATTCTCAAGTT	0.368000													35	52					0	0	1	0	0
ADGRG1	9289	broad.mit.edu	37	16	57685349	57685349	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:57685349T>G	ENST00000562631.1	+	3	834	c.302T>G	c.(301-303)tTa>tGa	p.L101*	GPR56_ENST00000388813.5_Nonsense_Mutation_p.L101*|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000379696.3_Nonsense_Mutation_p.L101*|GPR56_ENST00000567835.1_Nonsense_Mutation_p.L101*|GPR56_ENST00000562558.1_Nonsense_Mutation_p.L101*|GPR56_ENST00000568909.1_Nonsense_Mutation_p.L101*|GPR56_ENST00000538815.1_Nonsense_Mutation_p.L101*|GPR56_ENST00000456916.1_Nonsense_Mutation_p.L101*|GPR56_ENST00000568908.1_Nonsense_Mutation_p.L101*|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000540164.2_Nonsense_Mutation_p.L101*|GPR56_ENST00000388812.4_Nonsense_Mutation_p.L101*|GPR56_ENST00000544297.1_5'UTR			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	101					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GCTGGGAGATTACATCTTCTC	0.602000													55	54					0	0	1	0	0
SLC36A4	120103	broad.mit.edu	37	11	92916023	92916023	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:92916023G>T	ENST00000326402.4	-	4	438	c.308C>A	c.(307-309)tCt>tAt	p.S103Y	SLC36A4_ENST00000529184.1_De_novo_Start_InFrame	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	103					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACAGTGAACAGAAATAATTCC	0.303000													38	44					2.05212e-20	2.63646e-20	1	1	0
TLE1	7088	broad.mit.edu	37	9	84235392	84235392	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:84235392C>A	ENST00000376499.3	-	9	1739	c.675G>T	c.(673-675)aaG>aaT	p.K225N	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	225	CCN domain.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CCTTCCTTTTCTTGATGTCAT	0.383000													22	39					1.10513e-12	1.28599e-12	1	1	0
CHD5	26038	broad.mit.edu	37	1	6181594	6181594	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:6181594T>A	ENST00000262450.3	-	32	4838	c.4739A>T	c.(4738-4740)gAc>gTc	p.D1580V	CHD5_ENST00000378021.1_Missense_Mutation_p.D437V	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1580					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCCCCGGGGTCTTTCTCATC	0.602000													8	12					0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38345829	38345829	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:38345829C>T	ENST00000373023.2	-	15	1802	c.1709G>A	c.(1708-1710)gGc>gAc	p.G570D	INPP5B_ENST00000373026.1_Missense_Mutation_p.G570D|INPP5B_ENST00000373027.1_Missense_Mutation_p.G326D|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373024.3_Missense_Mutation_p.G490D	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	570					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)				CTCTGTGAAGCCTTCAAAGAC	0.433000													36	53					0	0	1	0	0
N6AMT2	221143	broad.mit.edu	37	13	21306051	21306051	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:21306051G>A	ENST00000382758.1	-	4	484	c.437C>T	c.(436-438)tCg>tTg	p.S146L	N6AMT2_ENST00000382754.4_Missense_Mutation_p.S146L			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	146							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ACATTCCTCCGAAAGATAGGG	0.423000													57	51					0	0	1	0	0
LCN1	3933	broad.mit.edu	37	9	138416998	138416998	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:138416998G>A	ENST00000263598.2	+	6	586	c.526G>A	c.(526-528)Gat>Aat	p.D176N	LCN1_ENST00000371781.3_Missense_Mutation_p.D176N	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	176					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		TCCAGGGAGCGATTAGGGTGA	0.577000													38	49					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20108493	20108493	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:20108493A>G	ENST00000395530.2	+	2	1096	c.888A>G	c.(886-888)atA>atG	p.I296M	SPECC1_ENST00000261503.5_Missense_Mutation_p.I377M|SPECC1_ENST00000395522.2_Missense_Mutation_p.I296M|SPECC1_ENST00000395525.3_Missense_Mutation_p.I296M|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395529.3_Missense_Mutation_p.I377M|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395527.4_Missense_Mutation_p.I377M|AC004702.2_ENST00000580225.1_lincRNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	377	Ser-rich.					nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CAGAGAAGATACAAAAGATGG	0.453000													63	71					0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166408598	166408598	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:166408598G>T	ENST00000402744.4	+	6	1262	c.982G>T	c.(982-984)Gac>Tac	p.D328Y		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	328					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGGATGCAAGACTTCAATTA	0.438000													48	34					6.27289e-28	8.50797e-28	1	1	0
PEG3	5178	broad.mit.edu	37	19	57326344	57326344	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:57326344C>A	ENST00000326441.9	-	10	3829	c.3466G>T	c.(3466-3468)Gat>Tat	p.D1156Y	PEG3_ENST00000593695.1_Missense_Mutation_p.D1030Y|PEG3_ENST00000598410.1_Missense_Mutation_p.D1032Y|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1156Y|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1156					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCAGTGTAATCTCTCTGATAC	0.453000													92	90					1.80868e-48	2.57081e-48	1	1	0
UGT2B28	54490	broad.mit.edu	37	4	70155417	70155417	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:70155417C>T	ENST00000335568.5	+	4	1039	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	346					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AAACCAGATGCCTTAGGTCTC	0.373000													8	130					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157505473	157505473	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:157505473T>G	ENST00000346085.5	+	13	3455	c.3454T>G	c.(3454-3456)Ttt>Gtt	p.F1152V	ARID1B_ENST00000350026.5_Missense_Mutation_p.F1139V|ARID1B_ENST00000275248.4_Missense_Mutation_p.F1134V|ARID1B_ENST00000367148.1_Missense_Mutation_p.F1192V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1139					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCTGTTTGCCTTTGAGTGCAA	0.552000													32	36					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167543099	167543099	+	Silent	SNP	C	C	T	rs149238028		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:167543099C>T	ENST00000295777.5	+	9	1652	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Silent_p.F407F	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	407					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GACATGATTTCGAAGAACTTT	0.338000													30	38					0	0	1	0	0
HSDL2	84263	broad.mit.edu	37	9	115181233	115181233	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:115181233A>C	ENST00000398805.3	+	6	820	c.593A>C	c.(592-594)aAa>aCa	p.K198T	HSDL2_ENST00000398803.1_Missense_Mutation_p.K125T|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000262542.7_Missense_Mutation_p.K78T|HSDL2_ENST00000539114.1_Intron	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	198						peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						TTATGGCCTAAAACAGGTATG	0.323000													14	31					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332001	100332001	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:100332001G>T	ENST00000341853.1	-	0	2190					NR_003260.1																						GTGACCAACAGATGCACTCTC	0.552000													8	22					5.18039e-06	5.50011e-06	1	1	0
HPR	3250	broad.mit.edu	37	16	72110731	72110731	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:72110731G>A	ENST00000540303.2	+	5	830	c.798G>A	c.(796-798)ccG>ccA	p.P266P	HPR_ENST00000356967.5_Silent_p.P266P|HPR_ENST00000561690.1_Intron|HPR_ENST00000228226.8_Silent_p.P303P	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	266	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GGAAGGCACCGAAGAGCCCTG	0.522000													40	44					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76487558	76487558	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:76487558G>A	ENST00000389840.5	-	43	6718	c.6594C>T	c.(6592-6594)atC>atT	p.I2198I	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.I2207I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGAGAGACTCGATCCACATGG	0.597000													6	7					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52198015	52198015	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:52198015C>T	ENST00000371471.2	-	2	1776	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	ZNF217_ENST00000302342.3_Missense_Mutation_p.E451K			O75362	ZN217_HUMAN	zinc finger protein 217	451					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.E451K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGGATTCCTTCGGGAAGCCCA	0.602000													35	46					0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52486246	52486246	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:52486246G>T	ENST00000232975.3	-	3	132	c.78C>A	c.(76-78)atC>atA	p.I26I		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	26	EF-hand 1.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	CCAGCACGAAGATGTCGAAGG	0.637000													48	51					1.86277e-20	2.3955e-20	1	1	0
TIPARP	25976	broad.mit.edu	37	3	156422682	156422682	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:156422682C>T	ENST00000461166.1	+	6	2324	c.1736C>T	c.(1735-1737)tCc>tTc	p.S579F	TIPARP_ENST00000542783.1_Missense_Mutation_p.S579F|TIPARP_ENST00000295924.7_Missense_Mutation_p.S579F|TIPARP_ENST00000486483.1_Missense_Mutation_p.S579F	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	579	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCTAAGAAGTCCTCCAAAGGA	0.483000													69	84					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110246208	110246208	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:110246208C>T	ENST00000418703.2	-	2	546	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	TRPV4_ENST00000541794.1_Missense_Mutation_p.R151Q|TRPV4_ENST00000537083.1_Missense_Mutation_p.R151Q|TRPV4_ENST00000544971.1_Missense_Mutation_p.R151Q|TRPV4_ENST00000536838.1_Missense_Mutation_p.R117Q|TRPV4_ENST00000261740.2_Missense_Mutation_p.R151Q|TRPV4_ENST00000346520.2_Missense_Mutation_p.R151Q|TRPV4_ENST00000392719.2_Missense_Mutation_p.R151Q	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	151					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GAGGATAGGCCGGTTGAAGAC	0.617000													13	28					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467358	56467358	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:56467358C>T	ENST00000291971.3	+	3	2005	c.1934C>T	c.(1933-1935)tCt>tTt	p.S645F	NLRP8_ENST00000590542.1_Missense_Mutation_p.S645F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	645						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)		GTTCAAGTGTCTGCTTTTTGC	0.458000													46	54					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25458348	25458348	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:25458348C>T	ENST00000381884.4	-	15	3839	c.3654G>A	c.(3652-3654)acG>acA	p.T1218T	CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1218					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CCGGGTATGTCGTGTGAGTGG	0.443000													40	39					0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77421843	77421843	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:77421843G>T	ENST00000322886.7	-	11	2195	c.1960C>A	c.(1960-1962)Cat>Aat	p.H654N	E2F7_ENST00000416496.2_Missense_Mutation_p.H654N	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	654					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CCATTCACATGAATGTCTTTG	0.458000													25	42					9.04412e-07	9.7125e-07	1	1	0
ZNF676	163223	broad.mit.edu	37	19	22379677	22379677	+	Translation_Start_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:22379677G>T	ENST00000397121.2	-	0	76					NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTTCAACACAGAAATGTTCAC	0.284000													4	7					0.00024832	0.000256496	1	1	0
SESTD1	91404	broad.mit.edu	37	2	179989197	179989197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179989197G>T	ENST00000428443.3	-	11	1377	c.1061C>A	c.(1060-1062)tCa>tAa	p.S354*		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	354					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTGCTGCAGTGACTTTAGTTC	0.423000													28	31					1.68575e-08	1.8544e-08	1	1	0
CADPS	8618	broad.mit.edu	37	3	62570893	62570893	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:62570893C>T	ENST00000383710.4	-	8	1893	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	CADPS_ENST00000357948.3_Missense_Mutation_p.R515Q|CADPS_ENST00000283269.9_Missense_Mutation_p.R515Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	515					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.R515Q(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTTATCCATTCGGACAGCAAG	0.448000													42	60					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762178	130762178	+	Missense_Mutation	SNP	G	G	T	rs13215023		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:130762178G>T	ENST00000392429.1	+	2	2989	c.611G>T	c.(610-612)aGa>aTa	p.R204I	TMEM200A_ENST00000296978.3_Missense_Mutation_p.R204I|TMEM200A_ENST00000545622.1_Missense_Mutation_p.R204I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	204						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGTGCCTCGAGATTGGCAGCA	0.468000													36	35					3.03874e-20	3.89651e-20	1	1	0
FAM211B	388886	broad.mit.edu	37	22	24984230	24984230	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:24984230G>A	ENST00000318753.8	-	3	397	c.374C>T	c.(373-375)tCg>tTg	p.S125L	GGT1_ENST00000248923.4_Intron	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	125																	CTGCTGCTTCGAGTGAGGGGT	0.602000													12	28					0	0	1	0	0
ZNF252P	286101	broad.mit.edu	37	8	146202646	146202646	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:146202646G>T	ENST00000426361.2	-	0	1538					NR_023392.1															endometrium(1)	1						AGCACCAAATGATTTTCCACA	0.393000													4	2					0.00909568	0.00922191	1	1	0
IGSF5	150084	broad.mit.edu	37	21	41163967	41163967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:41163967C>T	ENST00000380588.4	+	7	1092	c.989C>T	c.(988-990)aCt>aTt	p.T330I		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	330						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				AACAAAGAAACTGAGACAGAA	0.373000													5	8					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897243	36897243	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:36897243C>A	ENST00000301807.6	-	12	4085	c.2188G>T	c.(2188-2190)Gag>Tag	p.E730*	TRANK1_ENST00000428977.2_Nonsense_Mutation_p.E730*|TRANK1_ENST00000429976.2_Nonsense_Mutation_p.E1280*			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1280					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						TTGAACACCTCAAACGTCACG	0.473000													80	115					2.08937e-45	2.96189e-45	1	1	0
ZNF251	90987	broad.mit.edu	37	8	145948552	145948552	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:145948552A>C	ENST00000292562.7	-	5	768	c.493T>G	c.(493-495)Tta>Gta	p.L165V	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GCTTCTGTTAAAACTCTCTTG	0.463000													57	66					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118997819	118997819	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:118997819C>A	ENST00000328252.3	+	7	3004	c.2635C>A	c.(2635-2637)Cta>Ata	p.L879I	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	879					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCCACTCTGTCTACAGTGTAA	0.532000													27	34					1.1804e-14	1.4124e-14	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79393414	79393414	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:79393414G>A	ENST00000264895.6	+	52	7892	c.7452G>A	c.(7450-7452)acG>acA	p.T2484T		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2483					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						ATGAGATAACGACGGGCCCTA	0.537000													4	60					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187752	12187752	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:12187752A>C	ENST00000439326.3	+	4	1992	c.1817A>C	c.(1816-1818)gAa>gCa	p.E606A	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TACATGCAAGAACACACCCTG	0.403000													7	11					0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85634393	85634393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:85634393C>A	ENST00000310298.4	+	9	1085	c.833C>A	c.(832-834)tCa>tAa	p.S278*	PDE8A_ENST00000394553.1_Nonsense_Mutation_p.S278*|PDE8A_ENST00000557957.1_Nonsense_Mutation_p.S206*|PDE8A_ENST00000557819.2_Intron|PDE8A_ENST00000339708.5_Intron			O60658	PDE8A_HUMAN	phosphodiesterase 8A	278	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			ACTATAAATTCATGCATCAGG	0.393000													21	18					1.55469e-16	1.91173e-16	1	1	0
ZNF827	152485	broad.mit.edu	37	4	146824009	146824009	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:146824009G>A	ENST00000508784.1	-	2	629	c.402C>T	c.(400-402)ctC>ctT	p.L134L	ZNF827_ENST00000379448.4_Silent_p.L134L|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTGCAGCATCGAGTTTGAGGG	0.597000													27	39					0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18931335	18931335	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:18931335G>T	ENST00000284878.7	+	4	1205	c.457G>T	c.(457-459)Gaa>Taa	p.E153*	CXADR_ENST00000400166.1_Nonsense_Mutation_p.E153*|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000306618.10_Nonsense_Mutation_p.E153*|CXADR_ENST00000400169.1_Nonsense_Mutation_p.E153*|CXADR_ENST00000356275.6_Intron	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	153	Ig-like C2-type 2.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TGGATCTGAAGAAATTGGAAG	0.338000													18	34					8.28177e-16	1.00837e-15	1	1	0
ZNF768	79724	broad.mit.edu	37	16	30536535	30536535	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:30536535C>T	ENST00000380412.5	-	2	1101	c.926G>A	c.(925-927)cGc>cAc	p.R309H	ZNF768_ENST00000562803.1_Missense_Mutation_p.R278H	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	309					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGTGTGGGTGCGCTGGTGTTT	0.612000													28	46					0	0	1	0	0
AURKB	9212	broad.mit.edu	37	17	8108195	8108195	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:8108195G>A	ENST00000316199.6	-	9	1109	c.1032C>T	c.(1030-1032)gtC>gtT	p.V344V	AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000578549.1_Silent_p.V311V|AURKB_ENST00000585124.1_Silent_p.V343V|AURKB_ENST00000534871.1_Silent_p.V302V	NM_001284526.1	NP_001271455.1	Q96GD4	AURKB_HUMAN	aurora kinase B	343					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						ACCATCAGGCGACAGATTGAA	0.567000													38	54					0	0	1	0	0
PRPF19	27339	broad.mit.edu	37	11	60671245	60671245	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:60671245C>A	ENST00000227524.4	-	2	313	c.108G>T	c.(106-108)gaG>gaT	p.E36D		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	36	U-box.				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CGGTACCATTCTCCGCAATGT	0.517000													45	43					2.77807e-22	3.62324e-22	1	1	0
VPS41	27072	broad.mit.edu	37	7	38860835	38860835	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:38860835C>A	ENST00000310301.4	-	6	406	c.352G>T	c.(352-354)Gaa>Taa	p.E118*	VPS41_ENST00000395969.2_Nonsense_Mutation_p.E93*	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	118					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TCGTGAAATTCTTCTCCAGAA	0.368000													35	38					7.65355e-07	8.23077e-07	1	1	0
SUPT7L	9913	broad.mit.edu	37	2	27883963	27883963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:27883963G>A	ENST00000337768.5	-	3	876	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S	SUPT7L_ENST00000406540.1_Missense_Mutation_p.P101S|SUPT7L_ENST00000404798.2_Intron|SUPT7L_ENST00000405491.1_Missense_Mutation_p.P101S|SUPT7L_ENST00000464789.2_Missense_Mutation_p.P101S	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	103					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					GGGCACGAGGGAAGAGGTTCA	0.527000													20	26					0	0	1	0	0
C16orf87	388272	broad.mit.edu	37	16	46843695	46843695	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:46843695T>G	ENST00000285697.4	-	3	427	c.166A>C	c.(166-168)Aac>Cac	p.N56H	C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Intron	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	56										large_intestine(4)|urinary_tract(1)	5						TCATGCTTGTTTTCTGTATGG	0.368000													29	24					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43985990	43985990	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:43985990G>T	ENST00000262726.7	-	24	3249	c.2996C>A	c.(2995-2997)tCt>tAt	p.S999Y	EFCAB6_ENST00000396231.2_Missense_Mutation_p.S847Y	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	999	EF-hand 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCGGTAAGAGAACATCCACA	0.413000													54	61					2.23044e-30	3.05546e-30	1	1	0
CILP	8483	broad.mit.edu	37	15	65490442	65490442	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:65490442T>C	ENST00000261883.4	-	9	2348	c.2182A>G	c.(2182-2184)Acc>Gcc	p.T728A		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	728					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ACCAGGAAGGTTCTGTCTTCT	0.498000													66	87					0	0	1	0	0
FAM177B	400823	broad.mit.edu	37	1	222919977	222919977	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:222919977C>T	ENST00000445590.2	+	3	356	c.90C>T	c.(88-90)gaC>gaT	p.D30D	FAM177B_ENST00000360827.2_Silent_p.D30D	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	30										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						ATTTTGTTGACGGAGACATCA	0.413000													30	22					0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27327261	27327261	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:27327261G>T	ENST00000404694.3	-	1	344	c.340C>A	c.(340-342)Ctc>Atc	p.L114I	CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000312734.4_Intron|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402394.1_Intron|CGREF1_ENST00000405600.1_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	0	EF-hand 2.				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAAGGAAGAGAATCAGGGGT	0.557000													3	17					0.004672	0.00475129	1	1	0
SLC45A2	51151	broad.mit.edu	37	5	33963850	33963850	+	Silent	SNP	G	G	A	rs116887602	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:33963850G>A	ENST00000382102.3	-	3	891	c.834C>T	c.(832-834)taC>taT	p.Y278Y	SLC45A2_ENST00000342059.3_Silent_p.Y219Y|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000296589.4_Silent_p.Y278Y	NM_001012509.2	NP_001012527	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	278					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.Y278Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CTGGATTTACGTAACCATTTT	0.413000													81	76					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52773416	52773416	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:52773416C>T	ENST00000360540.5	-	3	702	c.296G>A	c.(295-297)gGc>gAc	p.G99D	PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000521344.1_Intron|PCMTD1_ENST00000522514.1_Missense_Mutation_p.G99D	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	99						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TAAAATTAAGCCCACCATTGT	0.299000													7	26					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40940748	40940748	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:40940748A>C	ENST00000246914.5	+	11	2111	c.2090A>C	c.(2089-2091)aAc>aCc	p.N697T		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	697					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGACCCATAACAGCAAGATG	0.522000													31	32					0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25636296	25636296	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:25636296T>A	ENST00000262394.2	+	6	1198	c.882T>A	c.(880-882)ttT>ttA	p.F294L	WSB1_ENST00000348811.2_Missense_Mutation_p.F148L	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	294					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TGATGGAATTTGGGTGGGTAC	0.358000													70	82					0	0	1	0	0
ZBTB48	3104	broad.mit.edu	37	1	6640690	6640690	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:6640690G>A	ENST00000377674.4	+	2	179	c.21G>A	c.(19-21)caG>caA	p.Q7Q		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	7						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CCTTCGTCCAGCACAGTGTGA	0.612000													36	32					0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14894457	14894457	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:14894457A>C	ENST00000378372.3	+	8	900	c.661A>C	c.(661-663)Aac>Cac	p.N221H		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	221					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TCTTTCAACAAACACTGATGA	0.403000													64	84					0	0	1	0	0
CSE1L	1434	broad.mit.edu	37	20	47683035	47683035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:47683035C>A	ENST00000262982.2	+	5	587	c.464C>A	c.(463-465)tCa>tAa	p.S155*	CSE1L_ENST00000542325.1_Intron|CSE1L_ENST00000396192.3_Nonsense_Mutation_p.S155*	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	155					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ACAGCACATTCATTATTTAAA	0.343000													18	19					8.00594e-06	8.47305e-06	1	1	0
RASGRP3	25780	broad.mit.edu	37	2	33745024	33745024	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:33745024G>A	ENST00000403687.3	+	5	919	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	RASGRP3_ENST00000402538.3_Missense_Mutation_p.R60Q|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R60Q	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	60	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	p.R60Q(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TTTACGTATCGAAATGCCACT	0.368000													8	6					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13949261	13949261	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:13949261G>A	ENST00000343495.5	-	10	1620	c.882C>T	c.(880-882)ttC>ttT	p.F294F	ETV1_ENST00000399357.3_Silent_p.F209F|ETV1_ENST00000403685.1_Silent_p.F294F|ETV1_ENST00000405358.4_Silent_p.F326F|ETV1_ENST00000242066.5_Silent_p.F294F|ETV1_ENST00000405192.2_Silent_p.F289F|ETV1_ENST00000403527.1_Silent_p.F272F|ETV1_ENST00000420159.2_Silent_p.F254F|ETV1_ENST00000405218.2_Silent_p.F312F|ETV1_ENST00000430479.1_Silent_p.F312F			P50549	ETV1_HUMAN	ets variant 1	312					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACCTACCATCGAATTTTTCTG	0.383000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								65	60					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120871392	120871392	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:120871392A>C	ENST00000273666.6	+	8	1009	c.738A>C	c.(736-738)agA>agC	p.R246S	STXBP5L_ENST00000471454.1_Missense_Mutation_p.R246S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R246S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R246S|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R246S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	246					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)		CAGAACTGAGAGTTTATTATG	0.333000													23	26					0	0	1	0	0
RMND5A	64795	broad.mit.edu	37	2	86992307	86992307	+	Missense_Mutation	SNP	C	C	A	rs143570524		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:86992307C>A	ENST00000283632.4	+	5	1174	c.679C>A	c.(679-681)Cat>Aat	p.H227N		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	227								p.H227Y(1)		kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TGCCCTAAATCATCAAAAAGG	0.368000													15	40					4.14922e-12	4.78853e-12	1	1	0
CARD11	84433	broad.mit.edu	37	7	2979560	2979560	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:2979560G>A	ENST00000396946.4	-	6	1090	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	229					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTAGCTGATCGATCTGAAATA	0.498000			Mis		DLBCL								44	51					0	0	1	0	0
MYBL1	4603	broad.mit.edu	37	8	67488333	67488333	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:67488333C>A	ENST00000522677.3	-	10	1789	c.1379G>T	c.(1378-1380)gGc>gTc	p.G460V	MYBL1_ENST00000517885.1_Missense_Mutation_p.G118V|MYBL1_ENST00000524176.2_Missense_Mutation_p.G460V	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	460	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AAGTTCGCTGCCTGGGGAATG	0.458000													19	39					7.07596e-05	7.37753e-05	1	1	0
AP3B2	8120	broad.mit.edu	37	15	83335620	83335620	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:83335620G>A	ENST00000261722.3	-	15	1938	c.1731C>T	c.(1729-1731)gaC>gaT	p.D577D	AP3B2_ENST00000535348.1_Silent_p.D545D|AP3B2_ENST00000535359.1_Silent_p.D577D|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	577					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			AGCGCGCCCGGTCGCGAATAT	0.607000													58	45					0	0	1	0	0
MAP10	54627	broad.mit.edu	37	1	232943902	232943902	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:232943902T>C	ENST00000418460.1	+	1	3260	c.3133T>C	c.(3133-3135)Tac>Cac	p.Y1045H		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		ACTTCCAGGATACACAATGTA	0.284000													13	14					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21553890	21553890	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:21553890G>A	ENST00000382592.4	-	7	3117	c.2712C>T	c.(2710-2712)ttC>ttT	p.F904F	LATS2_ENST00000542899.1_Silent_p.F904F	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	904	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCAGCATCTCGAAGAGAATCA	0.517000													18	33					0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57499366	57499366	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:57499366C>T	ENST00000300134.3	-	8	1022	c.697G>A	c.(697-699)Gac>Aac	p.D233N	STAT6_ENST00000543873.2_Missense_Mutation_p.D233N|STAT6_ENST00000537215.2_Missense_Mutation_p.D123N|STAT6_ENST00000556155.1_Missense_Mutation_p.D233N|STAT6_ENST00000454075.3_Missense_Mutation_p.D233N|STAT6_ENST00000538913.2_Missense_Mutation_p.D123N	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	233					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GAATAAATGTCCACCAGGCTT	0.627000													17	22					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725856	87725856	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:87725856C>T	ENST00000305344.5	+	2	1507	c.804C>T	c.(802-804)ttC>ttT	p.F268F		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled						G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCCCCCCTTCGACAATGATC	0.507000													93	106					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979145	58979145	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:58979145T>G	ENST00000361050.3	-	1	1279	c.1194A>C	c.(1192-1194)caA>caC	p.Q398H		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	398						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GCTCCAACTTTTGGCAGAGGA	0.532000													37	49					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17906559	17906559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:17906559C>A	ENST00000448223.2	-	9	960	c.691G>T	c.(691-693)Gaa>Taa	p.E231*	SMC6_ENST00000402989.1_Nonsense_Mutation_p.E231*|SMC6_ENST00000351948.4_Nonsense_Mutation_p.E231*|SMC6_ENST00000381272.4_Nonsense_Mutation_p.E257*	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	231					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTGTTCTTTCTTTCGTTTCC	0.308000													4	12					0.00024832	0.000256496	1	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140762917	140762917	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140762917C>T	ENST00000518325.1	+	1	451	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGGGGTTCGGTTTCCGTT	0.473000													30	35					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123797114	123797114	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:123797114G>T	ENST00000223642.1	-	5	580	c.551C>A	c.(550-552)tCt>tAt	p.S184Y		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	184					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GTCAGGAAAAGAGATAATTCC	0.353000													5	15					5.9392e-07	6.40003e-07	1	1	0
MYT1L	23040	broad.mit.edu	37	2	1983498	1983498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:1983498G>A	ENST00000399161.2	-	6	799	c.52C>T	c.(52-54)Cga>Tga	p.R18*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.R18*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	18					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACATACCTCGAACCCCTTTG	0.587000													18	14					0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68598306	68598306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:68598306C>T	ENST00000570495.1	+	5	1908	c.1616C>T	c.(1615-1617)tCg>tTg	p.S539L	ZFP90_ENST00000398253.2_Missense_Mutation_p.S539L|ZFP90_ENST00000563169.2_Missense_Mutation_p.S539L			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	539					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CGACGCTCATCGCTTACTCAA	0.418000													39	49					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117840406	117840406	+	Silent	SNP	G	G	A	rs145321605	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:117840406G>A	ENST00000350763.4	-	7	2901	c.2490C>T	c.(2488-2490)atC>atT	p.I830I	TNC_ENST00000535648.1_Silent_p.I830I|TNC_ENST00000537320.1_Silent_p.I830I|TNC_ENST00000345230.3_Silent_p.I830I|TNC_ENST00000341037.4_Silent_p.I830I|TNC_ENST00000340094.3_Silent_p.I830I|TNC_ENST00000542877.1_Silent_p.I830I|TNC_ENST00000423613.2_Silent_p.I830I|TNC_ENST00000346706.3_Silent_p.I830I	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	830	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAATGCCATCGATCTCAGCCA	0.557000													34	30					0	0	1	0	0
KLRG1	10219	broad.mit.edu	37	12	9147879	9147879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:9147879G>T	ENST00000266551.4	+	3	367	c.352G>T	c.(352-354)Gaa>Taa	p.E118*	RP11-259O18.4_ENST00000545706.1_RNA|KLRG1_ENST00000356986.3_Nonsense_Mutation_p.E118*|KLRG1_ENST00000538029.1_Intron	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	118	C-type lectin.				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding	p.E118K(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						GGACAATCAGGAAATGGTAAA	0.343000													24	46					7.92952e-12	9.11775e-12	1	1	0
SLFN5	162394	broad.mit.edu	37	17	33592518	33592518	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:33592518G>T	ENST00000299977.4	+	5	2435	c.2287G>T	c.(2287-2289)Gac>Tac	p.D763Y	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	763					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GATTATTGAAGACTTGAACTT	0.463000													45	59					6.1207e-33	8.46736e-33	1	1	0
TEAD2	8463	broad.mit.edu	37	19	49862705	49862705	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:49862705C>T	ENST00000377214.4	-	2	646	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	TEAD2_ENST00000539846.1_5'UTR|TEAD2_ENST00000593945.1_Missense_Mutation_p.R95Q|TEAD2_ENST00000598810.1_Missense_Mutation_p.R95Q|TEAD2_ENST00000311227.2_Missense_Mutation_p.R95Q|TEAD2_ENST00000601519.1_Missense_Mutation_p.R95Q			Q15562	TEAD2_HUMAN	TEA domain family member 2	95					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R95Q(2)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TTTTCGAGTTCGGGTCTTCCC	0.507000													126	150					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19295208	19295208	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:19295208G>T	ENST00000328405.2	+	2	405	c.139G>T	c.(139-141)Gat>Tat	p.D47Y		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	47	PAS.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTACTGTTCCGATGGCTTCTG	0.453000													95	113					2.24395e-52	3.20145e-52	1	1	0
F5	2153	broad.mit.edu	37	1	169524517	169524517	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:169524517G>A	ENST00000367796.3	-	7	1222	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C	F5_ENST00000367797.3_Missense_Mutation_p.R341C|F5_ENST00000546081.1_Missense_Mutation_p.R204C			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	341					cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.R341C(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTCTGCTCACGAGTTATTTTC	0.428000													39	49					0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189355	11189355	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:11189355C>T	ENST00000382435.4	+	1	959	c.740C>T	c.(739-741)cCc>cTc	p.P247L		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	247						integral to membrane											CCCGTGTTGCCCAGTGACCTC	0.627000													74	106					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62257012	62257012	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:62257012C>T	ENST00000261517.5	-	31	3173	c.3100G>A	c.(3100-3102)Gct>Act	p.A1034T	VPS13C_ENST00000395896.4_Missense_Mutation_p.A1034T|VPS13C_ENST00000395898.3_Missense_Mutation_p.A991T|VPS13C_ENST00000249837.3_Missense_Mutation_p.A991T	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1034					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAATAGAAGCGACAAGAGCT	0.328000													23	39					0	0	1	0	0
TRMT61B	55006	broad.mit.edu	37	2	29074092	29074092	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:29074092G>A	ENST00000306108.5	-	5	1181	c.1158C>T	c.(1156-1158)agC>agT	p.S386S		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	386							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CAATGACCTCGCTTATCTTTT	0.343000													12	25					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216138811	216138811	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:216138811C>T	ENST00000366943.2	-	37	7354	c.6968G>A	c.(6967-6969)cGa>cAa	p.R2323Q	USH2A_ENST00000307340.3_Missense_Mutation_p.R2323Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2323	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCTAGAGTTCGATTTTCCAC	0.393000										HNSCC(13;0.011)			26	49					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62210341	62210341	+	Nonsense_Mutation	SNP	G	G	T	rs149034021		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:62210341G>T	ENST00000261517.5	-	59	7827	c.7754C>A	c.(7753-7755)tCa>tAa	p.S2585*	VPS13C_ENST00000395896.4_Nonsense_Mutation_p.S2585*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.S2542*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.S2542*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2585					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTACCTATATGAATCTAAAGG	0.303000													35	54					2.51541e-25	3.34948e-25	1	1	0
FNDC3B	64778	broad.mit.edu	37	3	172098796	172098796	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:172098796T>G	ENST00000336824.4	+	25	3315	c.3216T>G	c.(3214-3216)atT>atG	p.I1072M	FNDC3B_ENST00000415807.2_Missense_Mutation_p.I1072M|FNDC3B_ENST00000416957.1_Missense_Mutation_p.I1072M	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1072	Fibronectin type-III 9.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CATGTGAAATTTTATGGGAGA	0.383000													44	62					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5410102	5410102	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:5410102C>T	ENST00000399537.4	-	11	4471	c.4123G>A	c.(4123-4125)Gag>Aag	p.E1375K	TNRC18_ENST00000430969.1_Missense_Mutation_p.E1375K			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1375							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		ACAAGGCTCTCGGCTGCTTCC	0.647000													6	2					0	0	1	0	0
HMGCR	3156	broad.mit.edu	37	5	74651295	74651295	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:74651295G>A	ENST00000287936.4	+	14	1984	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	HMGCR_ENST00000343975.5_Missense_Mutation_p.E557K|HMGCR_ENST00000511206.1_Missense_Mutation_p.E610K	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	610	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	AGCCTGGCTCGAAACATCTGA	0.483000													78	74					0	0	1	0	0
PSMB11	122706	broad.mit.edu	37	14	23511601	23511601	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:23511601G>A	ENST00000408907.2	+	1	226	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	56					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CTGGCCTTCCGCTTCCGTCAT	0.642000													39	47					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31311952	31311952	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:31311952A>G	ENST00000269197.5	+	9	900	c.900A>G	c.(898-900)ttA>ttG	p.L300L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATGGAATTTTACGCCTCAGTA	0.368000													29	48					0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99470148	99470148	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:99470148G>A	ENST00000370188.3	-	1	440	c.80C>T	c.(79-81)gCg>gTg	p.A27V	RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000263177.4_Missense_Mutation_p.A27V	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		27						integral to membrane	hydrolase activity										GAAGTAGTACGCCAGCATCAC	0.647000													43	51					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179733999	179733999	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179733999C>A	ENST00000420890.2	-	15	2356	c.2239G>T	c.(2239-2241)Gaa>Taa	p.E747*	CCDC141_ENST00000295723.5_Nonsense_Mutation_p.E172*	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	172							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCCTCTGATTCTTTCATAATG	0.333000													23	28					9.57634e-11	1.08962e-10	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	42048290	42048290	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:42048290G>A	ENST00000372584.1	-	3	3193	c.2179C>T	c.(2179-2181)Cca>Tca	p.P727S	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P727S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P727S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P727S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	727	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AAGGCAGGTGGCTCTTCCTCG	0.562000													41	31					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17750028	17750028	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:17750028G>A	ENST00000380060.3	+	8	4675	c.4337G>A	c.(4336-4338)cGa>cAa	p.R1446Q	NHS_ENST00000398097.3_Missense_Mutation_p.R1290Q	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1446						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)					ATGTCTGTTCGAAGCAAATCG	0.493000													85	5					0	0	1	0	0
B3GNT6	192134	broad.mit.edu	37	11	76751039	76751039	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:76751039G>A	ENST00000533140.1	+	2	582	c.444G>A	c.(442-444)ggG>ggA	p.G148G	B3GNT6_ENST00000354301.5_Silent_p.G148G|B3GNT6_ENST00000421061.1_Silent_p.G59G			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	148					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GCTACGGCGGGCGGCCAGTGC	0.741000													10	11					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32724730	32724730	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:32724730C>T	ENST00000421745.2	+	46	8719	c.8585C>T	c.(8584-8586)tCg>tTg	p.S2862L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2862					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGATAGAATCGGTTACATTT	0.453000													77	75					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20422999	20422999	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:20422999C>T	ENST00000331849.4	+	2	340	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	ACSM5_ENST00000575584.1_Missense_Mutation_p.R65W	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	65			R -> Q (in dbSNP:rs9928053).		fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGTGTGGAGTCGGCTGGAAGA	0.557000													24	47					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78413213	78413213	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:78413213T>C	ENST00000278550.7	-	28	4907	c.4445A>G	c.(4444-4446)tAt>tGt	p.Y1482C		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CTCAGCAATATACAGGACCCC	0.552000													19	31					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138174086	138174086	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:138174086C>T	ENST00000389567.4	+	3	606	c.420C>T	c.(418-420)ttC>ttT	p.F140F	ESYT3_ENST00000289135.4_Silent_p.F140F	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	140						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						AAAGCAAGTTCCGGGAGAAAC	0.527000													37	39					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53677195	53677195	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:53677195C>A	ENST00000257934.4	+	16	3041	c.2950C>A	c.(2950-2952)Ctt>Att	p.L984I	ESPL1_ENST00000552462.1_Missense_Mutation_p.L984I	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	984					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATGGCAGGTTCTTTCAGAGGT	0.527000													86	65					3.3814e-41	4.76182e-41	1	1	0
EVC2	132884	broad.mit.edu	37	4	5564656	5564656	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:5564656C>A	ENST00000310917.2	-	22	4337	c.3606G>T	c.(3604-3606)gaG>gaT	p.E1202D	EVC2_ENST00000344408.5_Missense_Mutation_p.E1282D|EVC2_ENST00000344938.1_Intron	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1282						integral to membrane		p.E1282D(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCAGTGAGATCTCTGGCTCCT	0.483000													76	88					3.1711e-36	4.41783e-36	1	1	0
GPR25	2848	broad.mit.edu	37	1	200842659	200842659	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:200842659C>T	ENST00000304244.2	+	1	577	c.494C>T	c.(493-495)gCc>gTc	p.A165V		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	165						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCGTCTGGGCCGTGGCGCTG	0.756000													5	2					0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664530	169664530	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:169664530C>A	ENST00000483289.2	-	0	2764				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						TCAAAAACTTCTCTGCCATGG	0.488000													21	30					1.15919e-05	1.22173e-05	1	1	0
UBQLN3	50613	broad.mit.edu	37	11	5530371	5530371	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:5530371G>A	ENST00000311659.4	-	2	565	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	140										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCTACTGAGGCCTGTGAGG	0.587000													16	31					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167055571	167055571	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:167055571G>A	ENST00000303354.6	-	27	5921	c.5581C>T	c.(5581-5583)Cgt>Tgt	p.R1861C	SCN9A_ENST00000409672.1_Missense_Mutation_p.R1849C|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1860C|SCN9A_ENST00000375387.4_Missense_Mutation_p.R1861C|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1860						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATCTGTGAACGAAGAGAATCC	0.453000													65	73					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124641134	124641134	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:124641134C>T	ENST00000311075.3	-	4	689	c.651G>A	c.(649-651)ggG>ggA	p.G217G		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	217	SEA.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CTGAAATCTTCCCAGGGAATA	0.333000													23	26					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184930933	184930933	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:184930933C>A	ENST00000308497.4	+	3	2377	c.942C>A	c.(940-942)atC>atA	p.I314I	STOX2_ENST00000438269.1_Silent_p.I314I	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	314					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AGATGGAAATCATTAGGCGCA	0.537000													6	13					5.18039e-06	5.50011e-06	1	1	0
ACBD4	79777	broad.mit.edu	37	17	43220893	43220893	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:43220893C>T	ENST00000431281.1	+	12	1380	c.911C>T	c.(910-912)tCg>tTg	p.S304L	ACBD4_ENST00000592162.1_Missense_Mutation_p.R245C|ACBD4_ENST00000591859.1_Missense_Mutation_p.S304L|ACBD4_ENST00000321854.8_Silent_p.F291F|ACBD4_ENST00000586346.1_Missense_Mutation_p.S304L|ACBD4_ENST00000398322.3_Silent_p.F291F	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	0							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						TGTGGCCCTTCGTCGTCCAGT	0.642000													29	40					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90283584	90283584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:90283584C>T	ENST00000469640.2	+	19	2371	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R666*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R666*|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R666*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R666*			P53355	DAPK1_HUMAN	death-associated protein kinase 1	666					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGCAAGACTTCGAAAGGTGAG	0.423000									Chronic Lymphocytic Leukemia, Familial Clustering of				89	111					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26629899	26629899	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:26629899T>C	ENST00000381340.3	-	44	6581	c.6165A>G	c.(6163-6165)agA>agG	p.R2055R		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2055					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CACTGTCATGTCTGCTTTCCA	0.363000													29	14					0	0	1	0	0
PAPSS1	9061	broad.mit.edu	37	4	108603275	108603275	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:108603275C>T	ENST00000265174.4	-	5	837	c.565G>A	c.(565-567)Gat>Aat	p.D189N	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	189					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TATTCAGAATCGATCCCAGTG	0.393000													25	29					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837469	12837469	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:12837469G>T	ENST00000357726.4	+	3	1206	c.1179G>T	c.(1177-1179)ctG>ctT	p.L393L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	393										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCGCCCTGGAGAACCTGC	0.627000													5	193					0.000602214	0.000618688	1	1	0
ABCC8	6833	broad.mit.edu	37	11	17434262	17434262	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:17434262C>T	ENST00000302539.4	-	21	2635	c.2510G>A	c.(2509-2511)cGa>cAa	p.R837Q	ABCC8_ENST00000389817.3_Missense_Mutation_p.R836Q	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	836	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CACACTGATTCGCTGGCGTTG	0.582000													7	4					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29541484	29541484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:29541484G>T	ENST00000358273.4	+	13	1791	c.1408G>T	c.(1408-1410)Gaa>Taa	p.E470*	NF1_ENST00000356175.3_Nonsense_Mutation_p.E470*|NF1_ENST00000431387.4_Nonsense_Mutation_p.E470*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	470					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TACATTTAAAGAAAAAGTAAC	0.294000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			9	13					0.000442599	0.00045576	1	1	0
C1orf141	400757	broad.mit.edu	37	1	67559056	67559056	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:67559056C>A	ENST00000371007.2	-	8	944	c.835G>T	c.(835-837)Gat>Tat	p.D279Y	C1orf141_ENST00000371006.1_Missense_Mutation_p.D279Y|C1orf141_ENST00000544837.1_Missense_Mutation_p.D279Y	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	279								p.D279Y(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						ATCTGTATATCTTTTCTCTGT	0.328000													32	46					1.26612e-14	1.51395e-14	1	1	0
LRRC30	339291	broad.mit.edu	37	18	7232012	7232012	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:7232012C>T	ENST00000383467.2	+	1	890	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	292								p.F292F(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AGATGCTCTTCGGCTACCTGA	0.587000													129	141					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81592810	81592810	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:81592810C>T	ENST00000394660.2	+	14	3503	c.3143C>T	c.(3142-3144)tCg>tTg	p.S1048L	IL16_ENST00000394652.2_Missense_Mutation_p.S347L|IL16_ENST00000302987.4_Missense_Mutation_p.S1048L	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1048	Interaction with HTLV-1 tax.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACAGGGTTCTCGCTCAAGTGA	0.398000													33	27					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38230708	38230708	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:38230708G>A	ENST00000373048.4	-	1	30	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	EPHA10_ENST00000319637.6_Missense_Mutation_p.R11C|EPHA10_ENST00000427468.2_Missense_Mutation_p.R11C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	11						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGAAGAGGCGCAGCGGGTGT	0.682000													9	9					0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1061799	1061799	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:1061799G>A	ENST00000360803.4	+	16	1797	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	GTPBP4_ENST00000538293.1_Missense_Mutation_p.R456Q|GTPBP4_ENST00000545048.1_Missense_Mutation_p.R525Q	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	572					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		AGTTGCTCTCGAACTCCACGT	0.507000													92	122					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906102	129906102	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:129906102T>G	ENST00000368654.3	-	13	4377	c.4002A>C	c.(4000-4002)caA>caC	p.Q1334H	MKI67_ENST00000368653.3_Missense_Mutation_p.Q974H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1334	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.Q1334H(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTTAGGAGTTTGTGGCCGTC	0.502000													94	115					0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127721415	127721415	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:127721415T>C	ENST00000354725.3	+	18	2166	c.1972T>C	c.(1972-1974)Tgg>Cgg	p.W658R		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	658	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CATGCAGGTCTGGGCCCACTA	0.572000													8	13					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126126064	126126064	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:126126064G>T	ENST00000393425.1	+	3	198	c.99G>T	c.(97-99)gaG>gaT	p.E33D	CCDC37_ENST00000510833.1_Missense_Mutation_p.E33D|CCDC37_ENST00000352312.1_Missense_Mutation_p.E33D|CCDC37_ENST00000505024.1_Missense_Mutation_p.E33D			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	33										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GCACTGAAGAGAACCCAAAGA	0.522000													11	17					5.16669e-11	5.9002e-11	1	1	0
UBE2H	7328	broad.mit.edu	37	7	129474841	129474841	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:129474841T>C	ENST00000355621.3	-	7	881	c.488A>G	c.(487-489)gAc>gGc	p.D163G	UBE2H_ENST00000473814.2_Missense_Mutation_p.D132G	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	163					protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					CGATGAGCTGTCCCCGGTACC	0.502000													32	54					0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45390613	45390613	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:45390613T>C	ENST00000398063.2	+	5	1082	c.590T>C	c.(589-591)cTt>cCt	p.L197P	AGPAT3_ENST00000291572.8_Missense_Mutation_p.L197P|AGPAT3_ENST00000327505.2_Missense_Mutation_p.L197P|AGPAT3_ENST00000398058.1_Missense_Mutation_p.L197P|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398061.1_Missense_Mutation_p.L197P|AGPAT3_ENST00000546158.1_Missense_Mutation_p.L197P	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	197					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GCTAAGGGGCTTCCTGTCCTC	0.642000													28	40					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897866	175897866	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:175897866T>C	ENST00000359240.3	+	5	1860	c.1190T>C	c.(1189-1191)gTg>gCg	p.V397A	ADAM29_ENST00000445694.1_Missense_Mutation_p.V397A|ADAM29_ENST00000514159.1_Missense_Mutation_p.V397A|ADAM29_ENST00000404450.4_Missense_Mutation_p.V397A	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	397	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATCTTTAATGTGAAGCGCTGT	0.393000													41	66					0	0	1	0	0
ME3	10873	broad.mit.edu	37	11	86157513	86157513	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:86157513G>A	ENST00000543262.1	-	13	1723	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V	ME3_ENST00000359636.2_Missense_Mutation_p.A466V|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Missense_Mutation_p.A466V	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	466					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	ACTTCCACTGGCAAAAATCCC	0.488000													22	28					0	0	1	0	0
TXNDC5	81567	broad.mit.edu	37	6	7886244	7886244	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:7886244G>A	ENST00000539054.1	-	8	779	c.780C>T	c.(778-780)ttC>ttT	p.F260F	TXNDC5_ENST00000379757.4_Silent_p.F332F|TXNDC5_ENST00000473453.1_Silent_p.F224F|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR			Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)		Thioredoxin 2.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TGGTGTCATCGAAGTTATTTT	0.423000													17	32					0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75208041	75208041	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:75208041C>A	ENST00000413679.2	+	15	1924	c.1621C>A	c.(1621-1623)Cag>Aag	p.Q541K	SEC14L1_ENST00000585618.1_Missense_Mutation_p.Q541K|SEC14L1_ENST00000436233.4_Missense_Mutation_p.Q541K|SEC14L1_ENST00000392476.2_Missense_Mutation_p.Q541K|SEC14L1_ENST00000430767.4_Missense_Mutation_p.Q541K|SEC14L1_ENST00000591437.1_Missense_Mutation_p.Q507K|SEC14L1_ENST00000431431.2_Missense_Mutation_p.Q507K|SEC14L1_ENST00000443798.4_Missense_Mutation_p.Q541K	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	541	GOLD.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GATTCTCATTCAGATTGTGGA	0.547000													130	133					1.03447e-49	1.47312e-49	1	1	0
FAM71A	149647	broad.mit.edu	37	1	212799739	212799739	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:212799739A>C	ENST00000294829.3	+	1	1951	c.1520A>C	c.(1519-1521)aAa>aCa	p.K507T	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	507										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACCTCTCACAAATCTGGGAGG	0.557000													43	56					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994260	140994260	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:140994260C>A	ENST00000285879.4	+	4	1356	c.1070C>A	c.(1069-1071)tCt>tAt	p.S357Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	357							protein binding	p.S357Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGAGTTCTCCTGAGAGT	0.473000										HNSCC(15;0.026)			104	7					7.59261e-44	1.07347e-43	1	1	0
C2orf71	388939	broad.mit.edu	37	2	29297043	29297043	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:29297043G>A	ENST00000331664.5	-	1	84	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	29					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATCCTGGCCGAATTGCTTTG	0.512000													37	38					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101900191	101900191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:101900191G>T	ENST00000374994.4	+	4	742	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	TGFBR1_ENST00000374990.2_Nonsense_Mutation_p.E132*|TGFBR1_ENST00000550253.1_Nonsense_Mutation_p.E140*|TGFBR1_ENST00000552516.1_Nonsense_Mutation_p.E213*	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	209	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGTGTTACAAGAAAGCATTGG	0.378000													28	36					1.39806e-14	1.67096e-14	1	1	0
IL31	386653	broad.mit.edu	37	12	122658409	122658409	+	Silent	SNP	C	C	T	rs141921768		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:122658409C>T	ENST00000377035.1	-	2	173	c.147G>A	c.(145-147)tcG>tcA	p.S49S		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	49						extracellular space	cytokine activity	p.S49S(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		AAAGCATCTTCGAGAGGGACT	0.483000													39	50					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160761830	160761830	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:160761830A>G	ENST00000274547.2	-	8	978	c.761T>C	c.(760-762)aTc>aCc	p.I254T	GABRB2_ENST00000353437.6_Missense_Mutation_p.I254T|GABRB2_ENST00000517901.1_Missense_Mutation_p.I191T|GABRB2_ENST00000393959.1_Missense_Mutation_p.I254T|GABRB2_ENST00000517547.1_Missense_Mutation_p.I94T|GABRB2_ENST00000520240.1_Missense_Mutation_p.I254T	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	254					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGTAATCAGGATGGAAGGCAT	0.428000													15	65					0	0	1	0	0
PANK3	79646	broad.mit.edu	37	5	167991045	167991045	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:167991045A>C	ENST00000239231.6	-	4	977	c.661T>G	c.(661-663)Tta>Gta	p.L221V	PANK3_ENST00000520504.1_Intron	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	221					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		AAACTGCATAAACCCAGAAAG	0.383000													101	114					0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100192559	100192559	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:100192559G>A	ENST00000554176.1	+	9	1475	c.809G>A	c.(808-810)gGc>gAc	p.G270D	CYP46A1_ENST00000261835.3_Missense_Mutation_p.G433D|CYP46A1_ENST00000423126.2_Missense_Mutation_p.G336D			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	433					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TTCTCCCTGGGCCACCGCTCC	0.637000													51	37					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184075017	184075017	+	Silent	SNP	G	G	A	rs41266267	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:184075017G>A	ENST00000265593.4	-	9	1107	c.936C>T	c.(934-936)ctC>ctT	p.L312L	CLCN2_ENST00000434054.2_Silent_p.L268L|CLCN2_ENST00000457512.1_Silent_p.L312L|CLCN2_ENST00000344937.7_Silent_p.L312L|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_5'UTR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	312						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGGGGAAGTCGAGCCGGAATC	0.592000													5	55					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30604918	30604918	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:30604918C>T	ENST00000358107.4	-	9	1749	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	MTPAP_ENST00000263063.4_Missense_Mutation_p.D454N|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	454					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GAATTTTTATCGAAAGCAAAA	0.279000													8	7					0	0	1	0	0
ABHD10	55347	broad.mit.edu	37	3	111700745	111700745	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:111700745C>A	ENST00000273359.3	+	2	284	c.257C>A	c.(256-258)tCt>tAt	p.S86Y	ABHD10_ENST00000494817.1_Missense_Mutation_p.S86Y|ABHD10_ENST00000534857.1_Intron	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	86						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						GGCTATCTTTCTTATATGAAT	0.408000													23	30					6.21321e-17	7.66838e-17	1	1	0
DDX21	9188	broad.mit.edu	37	10	70731689	70731689	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:70731689G>A	ENST00000354185.4	+	9	1527	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	477	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.E477K(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GAAGCAAAGGGAAATCACCCT	0.418000													39	43					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117150726	117150726	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:117150726C>A	ENST00000369486.3	-	5	1825	c.1060G>T	c.(1060-1062)Gag>Tag	p.E354*	IGSF3_ENST00000318837.6_Nonsense_Mutation_p.E354*|IGSF3_ENST00000369483.1_Nonsense_Mutation_p.E354*	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	354	Ig-like C2-type 3.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTGTCGCTCTCTTTGGCCACC	0.567000													4	113					0.00909568	0.00922191	1	1	0
LRRC8D	55144	broad.mit.edu	37	1	90399792	90399792	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:90399792A>G	ENST00000337338.5	+	3	1572	c.1165A>G	c.(1165-1167)Agg>Ggg	p.R389G	LRRC8D_ENST00000394593.3_Missense_Mutation_p.R389G	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	389						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CTGGTTATTCAGGATACCTTT	0.363000													50	53					0	0	1	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29726917	29726917	+	RNA	SNP	G	G	A	rs4000284	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:29726917G>A	ENST00000602980.1	+	0	735					NR_036482.1																						TCCTGGTATCGCACATCCATG	0.338000													37	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179656915	179656915	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179656915C>A	ENST00000589042.1	-	10	1770	c.1546G>T	c.(1546-1548)Gaa>Taa	p.E516*	TTN_ENST00000460472.2_Nonsense_Mutation_p.E516*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E516*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E516*|TTN_ENST00000360870.5_Nonsense_Mutation_p.E516*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E516*|TTN_ENST00000591111.1_Nonsense_Mutation_p.E516*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	516							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)			TTTTCAGTTTCTTTTCTTATC	0.279000													14	18					6.81908e-15	8.17768e-15	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79441611	79441611	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:79441611C>A	ENST00000376718.3	-	5	669	c.546G>T	c.(544-546)gaG>gaT	p.E182D	PRUNE2_ENST00000376713.3_Missense_Mutation_p.E182D|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	182					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGAGATCTTCTCTGATTCCA	0.433000													43	55					6.7651e-33	9.35155e-33	1	1	0
TTC1	7265	broad.mit.edu	37	5	159463770	159463770	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:159463770C>T	ENST00000231238.5	+	4	574	c.464C>T	c.(463-465)tCg>tTg	p.S155L	TTC1_ENST00000522793.1_Missense_Mutation_p.S155L	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	155					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		AAGGAGAGGTCGATTCTATTT	0.398000													17	36					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176845710	176845710	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:176845710C>A	ENST00000367654.3	-	21	3661	c.3450G>T	c.(3448-3450)aaG>aaT	p.K1150N	ASTN1_ENST00000367657.3_Missense_Mutation_p.K1142N|ASTN1_ENST00000424564.2_Missense_Mutation_p.K1142N|ASTN1_ENST00000361833.2_Missense_Mutation_p.K1142N	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGCATGGGGTCTTCACGATCA	0.572000													30	38					1.61788e-16	1.98668e-16	1	1	0
CDH10	1008	broad.mit.edu	37	5	24537738	24537738	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:24537738A>C	ENST00000264463.4	-	3	784	c.277T>G	c.(277-279)Tta>Gta	p.L93V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	93	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCTCCAGATAAGATATATTTG	0.368000										HNSCC(23;0.051)			16	30					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44935097	44935097	+	Silent	SNP	C	C	T	rs145063277	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:44935097C>T	ENST00000296125.4	+	5	527	c.459C>T	c.(457-459)gaC>gaT	p.D153D		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	153					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTGATGAGGACGAGCGCAAAG	0.507000													44	36					0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2799220	2799220	+	Missense_Mutation	SNP	C	C	T	rs17221854		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:2799220C>T	ENST00000155840.5	+	15	1855	c.1747C>T	c.(1747-1749)Cgc>Tgc	p.R583C	KCNQ1_ENST00000526095.1_3'UTR|KCNQ1_ENST00000335475.5_Missense_Mutation_p.R456C	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	583			R -> C (in LQT1; dbSNP:rs17221854).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GAGCAAGGATCGCGGCAGCAA	0.637000													27	43					0	0	1	0	0
ERO1LB	56605	broad.mit.edu	37	1	236393548	236393548	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:236393548C>A	ENST00000354619.5	-	10	889	c.688G>T	c.(688-690)Gaa>Taa	p.E230*		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	230					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TAGAATGATTCTCCTGAGAGA	0.299000													58	62					4.64241e-40	6.52728e-40	1	1	0
ADORA2A	135	broad.mit.edu	37	22	24837152	24837152	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:24837152G>T	ENST00000337539.7	+	3	1393	c.934G>T	c.(934-936)Gaa>Taa	p.E312*	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	312					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GAGGCAGCAAGAACCTTTCAA	0.602000													27	19					9.39395e-14	1.10812e-13	1	1	0
NLRP9	338321	broad.mit.edu	37	19	56249491	56249491	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:56249491G>A	ENST00000332836.2	-	1	277	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	84	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTGTCCAGAGATCTTTCCTA	0.478000													326	385					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10536067	10536067	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:10536067C>T	ENST00000583535.1	-	34	4769	c.4682G>A	c.(4681-4683)cGa>cAa	p.R1561Q	MYH3_ENST00000226209.7_Missense_Mutation_p.R1561Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1561					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AAGCTGGATTCGGAGGATCTT	0.443000													69	79					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114257199	114257199	+	Missense_Mutation	SNP	C	C	T	rs148287474		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:114257199C>T	ENST00000357077.4	+	30	3630	c.3577C>T	c.(3577-3579)Cgc>Tgc	p.R1193C	ANK2_ENST00000264366.6_Missense_Mutation_p.R1160C|ANK2_ENST00000394537.3_Missense_Mutation_p.R1193C|ANK2_ENST00000509550.1_Missense_Mutation_p.R369C|ANK2_ENST00000506722.1_Missense_Mutation_p.R1184C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1160					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAAGCGGATCCGCGTAGGCCT	0.507000													38	48					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170044706	170044706	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:170044706C>A	ENST00000263816.3	-	49	9387	c.9102G>T	c.(9100-9102)caG>caT	p.Q3034H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3034	LDL-receptor class A 24.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAAACTGATTCTGTTGGCAAG	0.488000													45	53					5.48756e-27	7.39954e-27	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79031667	79031667	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:79031667C>A	ENST00000446378.2	+	2	7110	c.7079C>A	c.(7078-7080)tCt>tAt	p.S2360Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2360						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGGAATATTTCTATTTTTAAG	0.383000													25	23					4.26978e-12	4.92127e-12	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8492897	8492897	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:8492897C>T	ENST00000381196.4	-	24	2975	c.2432G>A	c.(2431-2433)cGc>cAc	p.R811H	PTPRD_ENST00000358503.5_Missense_Mutation_p.R789H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R811H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R798H|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.R811H|PTPRD_ENST00000486161.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	811	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGCTTGCTGCGAGCACCATC	0.463000										TSP Lung(15;0.13)			66	75					0	0	1	0	0
FHIT	2272	broad.mit.edu	37	3	59999858	59999858	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:59999858G>A	ENST00000468189.1	-	6	494	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	FHIT_ENST00000476844.1_Missense_Mutation_p.R42W|FHIT_ENST00000466788.1_Intron|FHIT_ENST00000341848.4_Missense_Mutation_p.R42W|FHIT_ENST00000492590.1_Missense_Mutation_p.R42W			P49789	FHIT_HUMAN	fragile histidine triad	42	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding	p.R42W(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		TCCACTGGCCGCAGCGGGCAC	0.532000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				34	41					0	0	1	0	0
OR9G1	390174	broad.mit.edu	37	11	56468773	56468773	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:56468773C>A	ENST00000312153.1	+	1	910	c.910C>A	c.(910-912)Ctc>Atc	p.L304I		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GAAAAAACTTCTCCCATAAAT	0.378000													24	46					2.39556e-15	2.88909e-15	1	1	0
JKAMP	51528	broad.mit.edu	37	14	59965548	59965548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:59965548C>T	ENST00000554271.1	+	5	1130	c.604C>T	c.(604-606)Cga>Tga	p.R202*	RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000356057.5_Nonsense_Mutation_p.R196*|JKAMP_ENST00000425728.2_Nonsense_Mutation_p.R182*|JKAMP_ENST00000261247.9_Nonsense_Mutation_p.R188*	NM_001284201.1	NP_001271130.1	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	203					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GAAATCTGATCGATTTAAAAG	0.393000													12	19					0	0	1	0	0
GNG5	2787	broad.mit.edu	37	1	84971733	84971733	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:84971733A>C	ENST00000370641.3	-	1	515	c.42T>G	c.(40-42)gtT>gtG	p.V14V	GNG5_ENST00000370645.4_Silent_p.V14V			P63218	GBG5_HUMAN	guanine nucleotide binding protein (G protein), gamma 5	14					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		GGAGCTGTTGAACCACTTTCT	0.721000													7	19					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109854609	109854609	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:109854609G>A	ENST00000424296.2	-	28	3491	c.3415C>T	c.(3415-3417)Cgt>Tgt	p.R1139C	AK9_ENST00000341338.6_Missense_Mutation_p.R218C|AK9_ENST00000355283.1_Missense_Mutation_p.R218C	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		AAAAATCCACGATCTCCCAAA	0.363000													18	27					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605524	171605524	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:171605524C>T	ENST00000037502.6	-	3	1127	c.1056G>A	c.(1054-1056)gaG>gaA	p.E352E		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response		Olfactomedin-like.		E -> K (in GLC1A; could be a rare polymorphism).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CCTTCACTGTCTCGGTATTCA	0.542000													41	42					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214170503	214170503	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:214170503C>T	ENST00000366958.4	+	2	1233	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	PROX1_ENST00000498508.2_Missense_Mutation_p.R209C|PROX1_ENST00000261454.4_Missense_Mutation_p.R209C|PROX1_ENST00000435016.1_Missense_Mutation_p.R209C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	209					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGAAAACAAACGCAAGCAAAA	0.517000													29	40					0	0	1	0	0
EDEM2	55741	broad.mit.edu	37	20	33725697	33725697	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:33725697C>T	ENST00000540582.1	-	9	1074	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000374491.3_Missense_Mutation_p.R122Q|EDEM2_ENST00000374492.3_Missense_Mutation_p.R159Q|EDEM2_ENST00000542871.1_Intron			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	159					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GAGGAGTTTTCGGGCCGCCTC	0.577000													59	66					0	0	1	0	0
C3orf14	57415	broad.mit.edu	37	3	62317067	62317067	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:62317067C>A	ENST00000494481.1	+	5	559	c.245C>A	c.(244-246)tCt>tAt	p.S82Y	C3orf14_ENST00000232519.5_Missense_Mutation_p.S82Y|PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000542214.1_Missense_Mutation_p.S82Y|C3orf14_ENST00000462069.1_Missense_Mutation_p.S82Y|PTPRG-AS1_ENST00000495542.1_RNA			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	82										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		GAGGTGGTTTCTCTTGAGGTG	0.393000													27	50					1.75199e-13	2.05755e-13	1	1	0
KIF19	124602	broad.mit.edu	37	17	72350550	72350550	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:72350550C>T	ENST00000389916.4	+	18	2696	c.2558C>T	c.(2557-2559)gCc>gTc	p.A853V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	853					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ACGGGCGAGGCCCCGTCCCGG	0.687000													16	16					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19960541	19960541	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:19960541C>T	ENST00000263207.3	-	15	2748	c.2457G>A	c.(2455-2457)gcG>gcA	p.A819A	ARVCF_ENST00000406522.1_Silent_p.A750A|ARVCF_ENST00000344269.3_Silent_p.A756A|ARVCF_ENST00000406259.1_Silent_p.A813A|ARVCF_ENST00000401994.1_Silent_p.A756A	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	819					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					ACGCCGCCTTCGCTTCGCGTA	0.687000													39	49					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16254645	16254645	+	Missense_Mutation	SNP	G	G	A	rs149954308	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:16254645G>A	ENST00000375759.3	+	11	2114	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	637	Arg-rich.|Tyr-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.R637Q(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGAGTGTTCGAACTCCAGGC	0.423000													33	40					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275390	114275390	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:114275390G>A	ENST00000357077.4	+	38	5669	c.5616G>A	c.(5614-5616)tcG>tcA	p.S1872S	ANK2_ENST00000264366.6_Silent_p.S1839S|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1839	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGTCATCATCGAGTAAAACTG	0.458000													113	139					0	0	1	0	0
ZNF169	169841	broad.mit.edu	37	9	97055284	97055284	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:97055284C>T	ENST00000480716.1	+	3	244	c.189C>T	c.(187-189)atC>atT	p.I63I	ZNF169_ENST00000340911.4_Silent_p.I63I|ZNF169_ENST00000481550.2_Silent_p.I63I|ZNF169_ENST00000395395.2_Silent_p.I63I|ZNF169_ENST00000375354.4_Silent_p.I63I			Q14929	ZN169_HUMAN	zinc finger protein 169	63	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I63I(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CAAAACTCATCGAACAGCTGG	0.493000													9	13					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79028135	79028135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:79028135G>T	ENST00000446378.2	+	2	3578	c.3547G>T	c.(3547-3549)Gaa>Taa	p.E1183*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1183						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATCAAGAAAGAACAGGAACC	0.428000													11	26					1.61879e-10	1.83252e-10	1	1	0
ZNF292	23036	broad.mit.edu	37	6	87966210	87966210	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:87966210G>T	ENST00000369577.3	+	8	2906	c.2863G>T	c.(2863-2865)Gaa>Taa	p.E955*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.E950*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	955					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGGAAAGCAAGAAAACTCAAC	0.443000													44	51					8.00217e-19	1.00959e-18	1	1	0
NADSYN1	55191	broad.mit.edu	37	11	71189494	71189494	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:71189494G>T	ENST00000319023.2	+	10	1040	c.852G>T	c.(850-852)gaG>gaT	p.E284D	NADSYN1_ENST00000539574.1_Missense_Mutation_p.E24D	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	284	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACAGGGCGGAGATTTCATCTC	0.557000													6	7					8.12818e-05	8.45312e-05	1	1	0
ZIM2	23619	broad.mit.edu	37	19	57286773	57286773	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:57286773C>T	ENST00000391708.3	-	12	1409	c.867G>A	c.(865-867)gaG>gaA	p.E289E	ZIM2_ENST00000601070.1_Silent_p.E289E|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Silent_p.E289E|ZIM2_ENST00000593711.1_Silent_p.E289E|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Silent_p.E289E|AC006115.3_ENST00000595954.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TAGAGCTTCTCTCAAATTCAT	0.468000													47	54					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27465554	27465554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:27465554C>A	ENST00000295736.5	-	8	1283	c.1213G>T	c.(1213-1215)Gaa>Taa	p.E405*	SLC4A7_ENST00000388777.4_Missense_Mutation_p.E7D|SLC4A7_ENST00000437179.1_Nonsense_Mutation_p.E286*|SLC4A7_ENST00000454389.1_Nonsense_Mutation_p.E414*|SLC4A7_ENST00000428386.1_Nonsense_Mutation_p.E281*|SLC4A7_ENST00000440156.1_Nonsense_Mutation_p.E401*|SLC4A7_ENST00000445684.1_Nonsense_Mutation_p.E401*|SLC4A7_ENST00000446700.1_Nonsense_Mutation_p.E397*|SLC4A7_ENST00000425128.2_Nonsense_Mutation_p.E397*|SLC4A7_ENST00000455077.1_Nonsense_Mutation_p.E286*|SLC4A7_ENST00000435667.2_Nonsense_Mutation_p.E290*	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	405						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GTACTATTTTCTCTGCTTCCA	0.343000													4	44					0.000602214	0.000618688	1	1	0
VWA3A	146177	broad.mit.edu	37	16	22155616	22155616	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:22155616T>C	ENST00000389398.5	+	26	2737	c.2641T>C	c.(2641-2643)Tgc>Cgc	p.C881R	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	881						extracellular region		p.C881S(1)|p.C77S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GATTTCCAGATGCATGGGTCC	0.438000													15	17					0	0	1	0	0
CPSF3	51692	broad.mit.edu	37	2	9568931	9568931	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:9568931C>A	ENST00000238112.3	+	2	294	c.88C>A	c.(88-90)Ctc>Atc	p.L30I	CPSF3_ENST00000460593.1_5'UTR	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	30					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATGTATTATTCTCGAGTTCAA	0.328000													11	10					1.61879e-10	1.83252e-10	1	1	0
PNMA2	10687	broad.mit.edu	37	8	26366201	26366201	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:26366201G>A	ENST00000522362.2	-	3	965	c.71C>T	c.(70-72)aCg>aTg	p.T24M		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	24					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		cggtatccccgtaaccatcag	0.507000													77	71					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20013766	20013766	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:20013766G>A	ENST00000395529.3	+	3	226	c.174G>A	c.(172-174)acG>acA	p.T58T	SPECC1_ENST00000261503.5_Silent_p.T58T|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395527.4_Silent_p.T58T	NM_152904.4	NP_690868.3	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	58						nucleus		p.T58T(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GTGAGGACACGCTCAACAAGC	0.577000													55	63					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48598515	48598515	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:48598515C>T	ENST00000323776.5	+	8	1252	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R327W	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	327					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CACCTGGGATCGGAGTCTGTT	0.567000													10	23					0	0	1	0	0
TRIM23	373	broad.mit.edu	37	5	64890416	64890416	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:64890416C>A	ENST00000231524.9	-	10	1848	c.1477G>T	c.(1477-1479)Gaa>Taa	p.E493*	TRIM23_ENST00000274327.7_Nonsense_Mutation_p.E493*|TRIM23_ENST00000381018.3_Nonsense_Mutation_p.E493*	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	493	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TTTGCAAGTTCGCTGTGTGCT	0.328000													29	33					4.59853e-10	5.17056e-10	1	1	0
CPD	1362	broad.mit.edu	37	17	28749993	28749993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:28749993G>T	ENST00000225719.4	+	5	1685	c.1609G>T	c.(1609-1611)Gaa>Taa	p.E537*	CPD_ENST00000543464.2_Nonsense_Mutation_p.E290*	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	537	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGAGTCAAGAGAACTTTATGT	0.408000													42	52					1.8453e-21	2.38916e-21	1	1	0
PARD3	56288	broad.mit.edu	37	10	34648122	34648122	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:34648122C>A	ENST00000374789.3	-	14	2345	c.2020G>T	c.(2020-2022)Gga>Tga	p.G674*	PARD3_ENST00000544292.1_Nonsense_Mutation_p.G391*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.G661*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.G617*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.G674*|PARD3_ENST00000374768.1_Nonsense_Mutation_p.G112*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.G661*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.G674*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.G674*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.G674*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.G617*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.G617*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.G661*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	674	PDZ 3.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGGATCATTCCTCGTTTATTG	0.378000													46	54					1.61004e-24	2.13272e-24	1	1	0
ACOT2	10965	broad.mit.edu	37	14	74035846	74035846	+	Translation_Start_Site	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:74035846T>G	ENST00000238651.5	+	0	84				ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2						acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TGTGTCTATATTTGGTCTGGC	0.532000													16	20					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74503953	74503953	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:74503953G>A	ENST00000422840.2	-	16	2247	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	GLG1_ENST00000447066.2_Missense_Mutation_p.R739W|GLG1_ENST00000205061.5_Missense_Mutation_p.R750W	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	750						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TAAGAAAACCGAAAATCCTTC	0.398000													31	38					0	0	1	0	0
LINC00987	100499405	broad.mit.edu	37	12	9393012	9393012	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:9393012G>A	ENST00000427111.3	+	0	414					NR_036466.1																						GCCGGAGTCCGCGGCGGCGGA	0.607000													7	9					0	0	1	0	0
PGF	5228	broad.mit.edu	37	14	75415253	75415253	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:75415253A>C	ENST00000555567.1	-	4	890	c.349T>G	c.(349-351)Tac>Gac	p.Y117D	PGF_ENST00000405431.2_Missense_Mutation_p.Y117D|PGF_ENST00000553716.1_Missense_Mutation_p.Y117D|PGF_ENST00000238607.6_Missense_Mutation_p.Y116D	NM_002632.5	NP_002623.2	P49763	PLGF_HUMAN	placental growth factor	117					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		AGCTCCACGTAGGAGGGCCGG	0.602000													11	30					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141986767	141986767	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:141986767G>T	ENST00000389484.3	-	6	1806	c.835C>A	c.(835-837)Ctt>Att	p.L279I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	279					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGGATTGAAGAATATTGATT	0.333000										TSP Lung(27;0.18)			42	36					1.76056e-25	2.34668e-25	1	1	0
NSFL1C	55968	broad.mit.edu	37	20	1426394	1426394	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:1426394G>A	ENST00000216879.4	-	8	1734	c.867C>T	c.(865-867)atC>atT	p.I289I	NSFL1C_ENST00000353088.2_Silent_p.I258I|NSFL1C_ENST00000476071.1_Silent_p.I291I|NSFL1C_ENST00000350991.4_Silent_p.I291I|NSFL1C_ENST00000381658.4_Silent_p.I178I|NSFL1C_ENST00000461211.1_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	289						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CTGATTCGTCGATTAAGATGG	0.532000													112	111					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113537802	113537802	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:113537802C>T	ENST00000546530.1	-	22	2638	c.2353G>A	c.(2353-2355)Gat>Aat	p.D785N	RASAL1_ENST00000446861.3_Missense_Mutation_p.D755N|RASAL1_ENST00000261729.5_Missense_Mutation_p.D783N|RASAL1_ENST00000548055.1_Missense_Mutation_p.D784N	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	783					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGGGCACGATCCAGGTCTGCG	0.677000													22	25					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55948736	55948736	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:55948736C>T	ENST00000263923.4	-	28	4024	c.3729G>A	c.(3727-3729)ccG>ccA	p.P1243P	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1243					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GTTCTTCTAACGGGATATCTT	0.333000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			25	45					0	0	1	0	0
SLC16A7	9194	broad.mit.edu	37	12	60168882	60168882	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:60168882C>T	ENST00000261187.4	+	4	970	c.806C>T	c.(805-807)gCt>gTt	p.A269V	SLC16A7_ENST00000543448.1_Missense_Mutation_p.A170V|SLC16A7_ENST00000552024.1_Missense_Mutation_p.A269V|SLC16A7_ENST00000552432.1_Missense_Mutation_p.A269V|SLC16A7_ENST00000547379.1_Missense_Mutation_p.A269V	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	269						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	ATATTCTTGGCTCCATATGCT	0.373000													31	38					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990857	990857	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:990857T>C	ENST00000190165.2	+	2	1309	c.1271T>C	c.(1270-1272)gTc>gCc	p.V424A		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	424					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGCTCGCCCGTCCTTCCTGCC	0.552000													15	45					0	0	1	0	0
XPO1	7514	broad.mit.edu	37	2	61715381	61715381	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:61715381C>T	ENST00000401558.2	-	19	2959	c.2232G>A	c.(2230-2232)ttG>ttA	p.L744L	XPO1_ENST00000406957.1_Silent_p.L744L|XPO1_ENST00000404992.2_Silent_p.L744L	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	744					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TACTTCTAATCAATGGTTGCT	0.368000			Mis		CLL								33	42					0	0	1	0	0
CSNK2A3	283106	broad.mit.edu	37	11	11373970	11373970	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:11373970A>C	ENST00000528848.2	-	1	934	c.697T>G	c.(697-699)Ttc>Gtc	p.F233V	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		CGTCCATGGAAAAATGGCTCC	0.388000													47	70					0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150064094	150064094	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:150064094C>T	ENST00000369130.3	+	11	1714	c.1168C>T	c.(1168-1170)Ctt>Ttt	p.L390F	VPS45_ENST00000369128.5_Missense_Mutation_p.L285F|VPS45_ENST00000535106.1_Missense_Mutation_p.L321F	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	390					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGGTGATGCTTTATGCTTT	0.423000													105	113					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48250115	48250115	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:48250115C>T	ENST00000394747.1	-	6	1210	c.861G>A	c.(859-861)tcG>tcA	p.S287S	ABCC11_ENST00000353782.5_Silent_p.S287S|ABCC11_ENST00000537808.1_Silent_p.S287S|ABCC11_ENST00000394748.1_Silent_p.S287S|ABCC11_ENST00000356608.2_Silent_p.S287S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	287	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGATGACCAGCGATGCGCAGG	0.468000													78	119					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37117376	37117376	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:37117376C>A	ENST00000435416.1	+	3	2069	c.574C>A	c.(574-576)Ctc>Atc	p.L192I	ZNF382_ENST00000423582.1_Missense_Mutation_p.L144I|ZNF382_ENST00000439428.1_Missense_Mutation_p.L192I|ZNF382_ENST00000292928.2_Missense_Mutation_p.L193I			Q96SR6	ZN382_HUMAN	zinc finger protein 382	193	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAAAGAGTTCTCAGTGGTAA	0.403000													55	64					3.50607e-19	4.44341e-19	1	1	0
CASC5	57082	broad.mit.edu	37	15	40902467	40902467	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:40902467G>T	ENST00000346991.5	+	6	612	c.222G>T	c.(220-222)atG>atT	p.M74I	CASC5_ENST00000527044.1_Missense_Mutation_p.M74I|CASC5_ENST00000399668.2_Missense_Mutation_p.M74I			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	74	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.M74I(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGTCTCATATGAAAATAGTGA	0.308000													24	29					7.07758e-08	7.72824e-08	1	1	0
VEPH1	79674	broad.mit.edu	37	3	157081391	157081391	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:157081391C>T	ENST00000362010.2	-	9	1804	c.1497G>A	c.(1495-1497)gaG>gaA	p.E499E	VEPH1_ENST00000543418.1_Silent_p.E499E|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Silent_p.E499E|VEPH1_ENST00000392833.2_Silent_p.E499E	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	499						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GCTGTGATCTCTCAGTGTCTG	0.418000													46	60					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890322	55890322	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:55890322C>A	ENST00000313472.3	+	1	474	c.474C>A	c.(472-474)gtC>gtA	p.V158V		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACTCCTTTGTCAATGTGGTTT	0.443000													92	103					2.16136e-38	3.02771e-38	1	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77396084	77396084	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:77396084C>A	ENST00000282849.5	-	7	1552	c.1134G>T	c.(1132-1134)aaG>aaT	p.K378N		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	378	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCTTGCCATTCTTTCCAATGA	0.408000													18	18					6.94344e-10	7.7891e-10	1	1	0
MLX	6945	broad.mit.edu	37	17	40721523	40721523	+	Splice_Site	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:40721523A>C	ENST00000246912.4	+	6	591		c.e6-1		MLX_ENST00000435881.2_Splice_Site|MLX_ENST00000346833.4_Splice_Site	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein						energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CCCCCACCCTAGCCATTGACT	0.473000													14	19					0	0	1	0	0
SCGB2A2	4250	broad.mit.edu	37	11	62040459	62040459	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:62040459T>G	ENST00000227918.2	+	3	336	c.274T>G	c.(274-276)Tta>Gta	p.L92V		NM_002411.2	NP_002402.1	Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2	92						extracellular region	steroid binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						TCTTTGTGATTTATTTTAACT	0.363000													13	17					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256125	140256125	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140256125G>A	ENST00000398631.2	+	1	1068	c.1068G>A	c.(1066-1068)tcG>tcA	p.S356S	PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCACTGTCGCTCCCTGTGC	0.517000													37	43					0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15746099	15746099	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:15746099A>C	ENST00000381341.2	+	12	1040	c.651A>C	c.(649-651)gaA>gaC	p.E217D	DDX1_ENST00000233084.3_Missense_Mutation_p.E217D			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	217	B30.2/SPRY.|Helicase ATP-binding.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TGGCATTTGAAATACCACCAC	0.368000													53	62					0	0	1	0	0
ZNF192P1	651302	broad.mit.edu	37	6	28134726	28134726	+	RNA	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:28134726T>C	ENST00000440790.2	+	0	829					NR_103448.1																						CCTATGAATGTAATGAGTGTG	0.403000													8	8					0	0	1	0	0
CXCL12	6387	broad.mit.edu	37	10	44873705	44873705	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:44873705C>A	ENST00000593376.1	+	1	19	c.19C>A	c.(19-21)Ctt>Att	p.L7I	CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395794.2_Intron																							AAATTCAGATCTTGAAGTACT	0.418000													7	7					1.06961e-07	1.1658e-07	1	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17698113	17698113	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:17698113T>C	ENST00000399080.2	-	1	1593	c.1570A>G	c.(1570-1572)Aaa>Gaa	p.K524E		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	524										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTATCTTTTTTATTTCCTGAA	0.254000													7	6					0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107398814	107398814	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:107398814C>T	ENST00000440859.3	+	6	1134	c.667C>T	c.(667-669)Cca>Tca	p.P223S	CBLL1_ENST00000222597.2_Missense_Mutation_p.P222S|CBLL1_ENST00000415884.2_3'UTR	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase		Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TTTTATAATGCCACCAGACAA	0.478000													76	92					0	0	1	0	0
DSCR3	10311	broad.mit.edu	37	21	38612805	38612805	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:38612805A>C	ENST00000288304.5	-	2	859	c.67T>G	c.(67-69)Tct>Gct	p.S23A	DSCR3_ENST00000476950.1_Missense_Mutation_p.S65A|DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000309117.6_Missense_Mutation_p.S65A|DSCR3_ENST00000398998.1_Intron|DSCR3_ENST00000539844.1_Missense_Mutation_p.S65A|DSCR3_ENST00000399000.3_5'UTR			O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	65					vacuolar transport	nucleus|retromer complex				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						ACCTTAACAGAATTATAAAAA	0.463000													24	22					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99535366	99535366	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:99535366A>C	ENST00000376460.1	-	23	2569	c.2489T>G	c.(2488-2490)tTt>tGt	p.F830C	DOCK9_ENST00000442173.1_Missense_Mutation_p.F830C|DOCK9_ENST00000448493.2_Missense_Mutation_p.F842C|DOCK9_ENST00000339416.2_Missense_Mutation_p.F831C	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	831	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTACTGGAAAAAATTATGTAA	0.388000													16	17					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2775903	2775903	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:2775903G>A	ENST00000399655.1	+	37	4843	c.4578G>A	c.(4576-4578)ccG>ccA	p.P1526P	CACNA1C_ENST00000399606.1_Silent_p.P1546P|CACNA1C_ENST00000399597.1_Silent_p.P1526P|CACNA1C_ENST00000399644.1_Silent_p.P1526P|CACNA1C_ENST00000399638.1_Silent_p.P1554P|CACNA1C_ENST00000347598.4_Silent_p.P1574P|CACNA1C_ENST00000327702.7_Silent_p.P1526P|CACNA1C_ENST00000399629.1_Silent_p.P1543P|CACNA1C_ENST00000399621.1_Silent_p.P1526P|CACNA1C_ENST00000399617.1_Silent_p.P1526P|CACNA1C_ENST00000406454.3_Silent_p.P1526P|CACNA1C_ENST00000399603.1_Silent_p.P1526P|CACNA1C_ENST00000399641.1_Silent_p.P1526P|CACNA1C_ENST00000399649.1_Silent_p.P1513P|CACNA1C_ENST00000399591.1_Silent_p.P1515P|CACNA1C_ENST00000399601.1_Silent_p.P1526P|CACNA1C_ENST00000402845.3_Silent_p.P1526P|CACNA1C_ENST00000335762.5_Silent_p.P1551P|CACNA1C_ENST00000344100.3_Silent_p.P1548P|CACNA1C_ENST00000399595.1_Silent_p.P1515P|CACNA1C_ENST00000399634.1_Silent_p.P1526P|CACNA1C_ENST00000399637.1_Silent_p.P1526P	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1574	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				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	p.P1526P(1)|p.P1574P(1)|p.P1548P(1)|p.P1604P(1)|p.P1061P(1)		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)	GGATTCAGCCGCCACTAGGTT	0.577000													5	4					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761557	92761557	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:92761557C>A	ENST00000318238.4	-	5	4944	c.3728G>T	c.(3727-3729)aGa>aTa	p.R1243I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.R1243I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.R1243I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1243										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ACATTCATTTCTGGGATCAGG	0.338000													29	40					2.12542e-12	2.46249e-12	1	1	0
LINC00342	150759	broad.mit.edu	37	2	96479836	96479836	+	RNA	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:96479836T>G	ENST00000448494.1	-	0	2127																											AGATGAAAATTTTCAGGTCTG	0.393000													5	7					0	0	1	0	0
RAB6A	5870	broad.mit.edu	37	11	73390759	73390759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:73390759G>A	ENST00000310653.6	-	7	1003	c.502C>T	c.(502-504)Cga>Tga	p.R168*	RAB6A_ENST00000541588.1_Nonsense_Mutation_p.R64*|RAB6A_ENST00000336083.3_Nonsense_Mutation_p.R168*|RAB6A_ENST00000536566.1_Nonsense_Mutation_p.R135*	NM_001077637.1|NM_002869.4	NP_001071105.1|NP_002860.2	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	168					minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding			large_intestine(2)|lung(2)	4						GCTACACGTCGAAAGAGCTGT	0.408000													45	53					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33467054	33467054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:33467054C>T	ENST00000265112.3	+	18	2298	c.1987C>T	c.(1987-1989)Cga>Tga	p.R663*	TARS_ENST00000541634.1_Nonsense_Mutation_p.R559*|TARS_ENST00000502553.1_Nonsense_Mutation_p.R663*|TARS_ENST00000455217.2_Nonsense_Mutation_p.R696*|TARS_ENST00000414361.2_Nonsense_Mutation_p.R542*	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	663					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.R663*(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TAAAAAGATTCGAAATGCACA	0.373000													22	25					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888976	38888976	+	Missense_Mutation	SNP	C	C	T	rs145599239		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:38888976C>T	ENST00000302328.3	-	26	4783	c.4585G>A	c.(4585-4587)Gat>Aat	p.D1529N	SCN11A_ENST00000456224.3_Missense_Mutation_p.D1491N|SCN11A_ENST00000450244.1_Missense_Mutation_p.D1529N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1529					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)	AATATGTCATCGATTCCAGAC	0.443000													22	33					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163315586	163315586	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:163315586A>C	ENST00000271452.3	+	11	1205	c.926A>C	c.(925-927)aAa>aCa	p.K309T	NUF2_ENST00000367900.3_Missense_Mutation_p.K309T|NUF2_ENST00000524800.1_Intron	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	309	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AATAGGGAAAAATTAGCCAGT	0.328000													26	31					0	0	1	0	0
SEMA7A	8482	broad.mit.edu	37	15	74704300	74704300	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:74704300C>T	ENST00000261918.4	-	11	1896	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	SEMA7A_ENST00000542748.1_Missense_Mutation_p.A285T|SEMA7A_ENST00000543145.2_Missense_Mutation_p.A436T	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	450	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						ATGTTGAAGGCGAAGCTGTGC	0.637000													39	46					0	0	1	0	0
DTD2	112487	broad.mit.edu	37	14	31922499	31922499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:31922499C>A	ENST00000310850.4	-	2	279	c.163G>T	c.(163-165)Gaa>Taa	p.E55*	RP11-176H8.1_ENST00000547378.1_Nonsense_Mutation_p.E55*|DTD2_ENST00000356180.4_Nonsense_Mutation_p.E55*	NM_080664.2	NP_542395.1			D-tyrosyl-tRNA deacylase 2 (putative)																		GGAAGAAGTTCTTTATCAGCT	0.418000													38	53					8.16277e-20	1.04343e-19	1	1	0
ATG16L1	55054	broad.mit.edu	37	2	234173758	234173758	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:234173758C>T	ENST00000392017.4	+	5	867	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392020.4_Missense_Mutation_p.R204W|ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000392018.1_Missense_Mutation_p.R204W	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	204					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GGAAGCCAATCGGCTTAATGC	0.458000													79	10					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167262278	167262278	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:167262278T>C	ENST00000409855.1	-	25	4987	c.4861A>G	c.(4861-4863)Aaa>Gaa	p.K1621E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1621					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGTTTTCGTTTCAAAGTAGTC	0.363000													87	88					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138669336	138669336	+	Silent	SNP	C	C	T	rs139958448		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:138669336C>T	ENST00000298480.5	+	21	2576	c.2502C>T	c.(2500-2502)atC>atT	p.I834I	KCNT1_ENST00000487664.1_Silent_p.I789I|KCNT1_ENST00000486577.2_Silent_p.I793I|KCNT1_ENST00000490355.2_Silent_p.I813I|KCNT1_ENST00000491806.2_Silent_p.I801I|KCNT1_ENST00000263604.3_Silent_p.I815I|KCNT1_ENST00000371757.2_Silent_p.I834I|KCNT1_ENST00000488444.2_Silent_p.I815I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	834						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGAACCCCATCGTGCTGCTGC	0.652000													20	33					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141259419	141259419	+	Missense_Mutation	SNP	G	G	T	rs35114289		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:141259419G>T	ENST00000286364.3	+	5	530	c.495G>T	c.(493-495)gaG>gaT	p.E165D	RASA2_ENST00000452898.1_Missense_Mutation_p.E165D			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	165	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGATAACGGAGAATGGAACTG	0.299000													18	34					3.41278e-10	3.84949e-10	1	1	0
PRKCB	5579	broad.mit.edu	37	16	24135200	24135200	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:24135200G>A	ENST00000303531.7	+	9	1115	c.963G>A	c.(961-963)acG>acA	p.T321T	PRKCB_ENST00000321728.7_Silent_p.T321T	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	321					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AAGAAAAGACGACCAACACTG	0.483000													42	53					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39512337	39512337	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:39512337C>T	ENST00000287152.7	-	12	1514	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	KIF6_ENST00000373213.4_Missense_Mutation_p.E313K|KIF6_ENST00000373216.3_Missense_Mutation_p.E474K|KIF6_ENST00000373215.3_Missense_Mutation_p.E474K|KIF6_ENST00000538893.1_Missense_Mutation_p.E474K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	474					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATACTGATTTCGTTATCTCTC	0.408000													9	15					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109814639	109814639	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:109814639G>T	ENST00000424296.2	-	41	5745	c.5669C>A	c.(5668-5670)gCc>gAc	p.A1890D	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		AAAGTCAATGGCTCTGAACTG	0.383000													62	94					8.81991e-31	1.21072e-30	1	1	0
POSTN	10631	broad.mit.edu	37	13	38154010	38154010	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:38154010C>A	ENST00000379747.4	-	12	1765	c.1648G>T	c.(1648-1650)Gaa>Taa	p.E550*	POSTN_ENST00000541481.1_Nonsense_Mutation_p.E550*|POSTN_ENST00000379742.4_Nonsense_Mutation_p.E550*|POSTN_ENST00000379743.4_Nonsense_Mutation_p.E550*|POSTN_ENST00000379749.4_Nonsense_Mutation_p.E550*|POSTN_ENST00000541179.1_Nonsense_Mutation_p.E550*	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	550	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATCAGAATTTCTTTTTCTTCA	0.403000													25	34					5.45024e-15	6.5479e-15	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88963346	88963346	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:88963346G>T	ENST00000333190.4	+	4	1659	c.1050G>T	c.(1048-1050)aaG>aaT	p.K350N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	350						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATACATTGAAGAACACTTTAG	0.368000										HNSCC(36;0.09)			23	23					3.5997e-14	4.2784e-14	1	1	0
OSMR	9180	broad.mit.edu	37	5	38933236	38933236	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:38933236C>T	ENST00000274276.3	+	18	3032	c.2630C>T	c.(2629-2631)tCc>tTc	p.S877F		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	877					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GTTCCAGTATCCCCAAAAGCC	0.478000													71	93					0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95115344	95115344	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:95115344T>G	ENST00000325885.5	+	1	132	c.61T>G	c.(61-63)Ttc>Gtc	p.F21V	ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Missense_Mutation_p.F21V	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	21					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TAAGAGAAATTTCCTTGAGGC	0.438000													32	27					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213652	9213652	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9213652G>A	ENST00000305456.2	-	1	330	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GTGATGCTCCGATTCTGAGCT	0.478000													67	57					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64039239	64039239	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:64039239T>G	ENST00000443617.2	-	12	2485	c.2398A>C	c.(2398-2400)Aat>Cat	p.N800H		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	800					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCAAGGTGATTTGAAAGTAGC	0.473000													6	5					0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465742	24465742	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:24465742C>T	ENST00000382137.3	-	3	756	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.E230K|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Intron	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	230	C1q.					collagen		p.E230K(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TGGTTGAATTCATTATACAGG	0.428000													12	37					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33349165	33349165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:33349165G>A	ENST00000315596.10	+	35	4505	c.4319G>A	c.(4318-4320)cGa>cAa	p.R1440Q		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1440					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GTACGGCGGCGAAGTGCTAAA	0.333000													26	29					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91727456	91727456	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:91727456C>A	ENST00000359028.2	+	43	10878	c.10653C>A	c.(10651-10653)ttC>ttA	p.F3551L	AKAP9_ENST00000356239.3_Missense_Mutation_p.F3547L|AKAP9_ENST00000358100.2_Missense_Mutation_p.F3497L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3551					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATGAAGATTTCATTTGGGTTC	0.318000			T	BRAF	papillary thyroid								12	19					3.27435e-08	3.58418e-08	1	1	0
HEXDC	284004	broad.mit.edu	37	17	80395196	80395196	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:80395196C>T	ENST00000337014.6	+	8	1330	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	HEXDC_ENST00000577944.1_Missense_Mutation_p.P286S|HEXDC_ENST00000327949.9_Missense_Mutation_p.P286S	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	286					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGGCAGCGGGCCCACGGACTC	0.682000													44	56					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57896543	57896543	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:57896543G>T	ENST00000574161.1	+	2	271	c.152G>T	c.(151-153)aGa>aTa	p.R51I	GCOM1_ENST00000396180.1_Missense_Mutation_p.R51I|GCOM1_ENST00000380568.3_Missense_Mutation_p.R51I|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000572390.1_Missense_Mutation_p.R51I|GCOM1_ENST00000380569.2_Missense_Mutation_p.R51I|GCOM1_ENST00000380561.2_Missense_Mutation_p.R51I|GCOM1_ENST00000380560.2_Missense_Mutation_p.R51I|GCOM1_ENST00000587652.1_Missense_Mutation_p.R51I|MYZAP_ENST00000267853.5_Missense_Mutation_p.R51I|MYZAP_ENST00000380565.4_Missense_Mutation_p.R51I	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		51					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AAGATTGAGAGAAAAGAGCAG	0.507000													44	56					2.13384e-23	2.80497e-23	1	1	0
COL3A1	1281	broad.mit.edu	37	2	189864098	189864098	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:189864098G>A	ENST00000304636.3	+	30	2280	c.2110G>A	c.(2110-2112)Gaa>Aaa	p.E704K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E704K	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	704	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCCTGGTCCCGAAGGAGGAAA	0.483000													7	23					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41582667	41582667	+	Missense_Mutation	SNP	G	G	A	rs140656390	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:41582667G>A	ENST00000402904.2	-	7	766	c.398C>T	c.(397-399)gCg>gTg	p.A133V	SCMH1_ENST00000372595.1_Missense_Mutation_p.A72V|SCMH1_ENST00000361191.5_Missense_Mutation_p.A72V|SCMH1_ENST00000397174.2_Missense_Mutation_p.A113V|SCMH1_ENST00000372597.1_Missense_Mutation_p.A86V|SCMH1_ENST00000397171.2_Missense_Mutation_p.A72V|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000326197.7_Missense_Mutation_p.A133V|SCMH1_ENST00000337495.5_Missense_Mutation_p.A143V|SCMH1_ENST00000361705.3_Missense_Mutation_p.A86V|SCMH1_ENST00000372596.1_Missense_Mutation_p.A72V	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	133					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CCAAGAAGACGCATTCAGCCG	0.483000													21	22					0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18609759	18609759	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:18609759G>A	ENST00000330423.3	+	4	1087	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	TUBA8_ENST00000316027.6_Silent_p.K272K	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	338					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TCAAGACCAAGAGGACCATCC	0.562000													40	63					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56178162	56178162	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:56178162C>T	ENST00000399503.3	+	14	3135	c.3135C>T	c.(3133-3135)gtC>gtT	p.V1045V		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1045					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TTTCCCCAGTCTTTACTCAGT	0.443000													48	50					0	0	1	0	0
QARS	5859	broad.mit.edu	37	3	49142092	49142092	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:49142092C>A	ENST00000306125.6	-	1	412	c.75G>T	c.(73-75)aaG>aaT	p.K25N	QARS_ENST00000420147.2_Missense_Mutation_p.K43N|QARS_ENST00000414533.1_Missense_Mutation_p.K25N			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	25					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GAGCCGAGTTCTTGAGCGTCT	0.647000													31	54					1.06801e-11	1.22699e-11	1	1	0
STRA8	346673	broad.mit.edu	37	7	134931193	134931193	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:134931193G>A	ENST00000275764.3	+	6	471	c.471G>A	c.(469-471)acG>acA	p.T157T		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	157					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						ACAAACAGACGATGGACCTTC	0.602000													5	3					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146157789	146157789	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:146157789C>T	ENST00000276816.4	-	4	570	c.384G>A	c.(382-384)caG>caA	p.Q128Q	ZNF16_ENST00000394909.2_Silent_p.Q128Q	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GGGAGAGGGACTGTGGCAGCC	0.562000													54	67					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93779030	93779030	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:93779030C>A	ENST00000315765.9	+	2	370	c.362C>A	c.(361-363)tCt>tAt	p.S121Y		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	121	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AACTTTGCTTCTCGACCTTAC	0.438000													16	19					6.72482e-11	7.66641e-11	1	1	0
WDR53	348793	broad.mit.edu	37	3	196281539	196281539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:196281539G>A	ENST00000332629.5	-	4	1187	c.620C>T	c.(619-621)tCg>tTg	p.S207L	WDR53_ENST00000433160.1_Missense_Mutation_p.S48L|WDR53_ENST00000429115.1_Missense_Mutation_p.S46L	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	207										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		ATTACCACACGAAGCCACAGA	0.453000													187	201					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30703414	30703414	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:30703414G>T	ENST00000256246.2	-	1	3194	c.3120C>A	c.(3118-3120)ttC>ttA	p.F1040L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1040								p.F1040L(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AACTTTCCCAGAAATTATTGC	0.328000													35	38					4.3181e-19	5.46993e-19	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	126128759	126128759	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:126128759G>A	ENST00000299308.3	+	6	1568	c.1560G>A	c.(1558-1560)caG>caA	p.Q520Q	TMEM132B_ENST00000535886.1_Silent_p.Q32Q	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	520						integral to membrane				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)		TCCCCCTGCAGATTGAGATCT	0.552000													22	35					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73296482	73296482	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:73296482G>A	ENST00000377110.3	-	9	1528	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	TRPM3_ENST00000357533.2_Missense_Mutation_p.R431W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R276W|TRPM3_ENST00000423814.3_Missense_Mutation_p.R456W|TRPM3_ENST00000360823.2_Missense_Mutation_p.R301W|TRPM3_ENST00000377105.1_Missense_Mutation_p.R276W|TRPM3_ENST00000377106.1_Missense_Mutation_p.R301W|TRPM3_ENST00000377111.2_Missense_Mutation_p.R429W|TRPM3_ENST00000396280.5_Missense_Mutation_p.R276W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R276W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R301W|TRPM3_ENST00000396292.4_Missense_Mutation_p.R301W			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GATCCCATCCGAAATACCGTA	0.393000													26	37					0	0	1	0	0
CTSO	1519	broad.mit.edu	37	4	156864398	156864398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:156864398G>A	ENST00000433477.3	-	2	223	c.154C>T	c.(154-156)Cga>Tga	p.R52*		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	52					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TTCAAGTATCGATGTCTATTA	0.323000													42	65					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37678106	37678106	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:37678106G>A	ENST00000532828.2	-	5	584	c.333C>T	c.(331-333)atC>atT	p.I111I	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_Silent_p.I111I|ZNF585B_ENST00000531805.1_Silent_p.I56I	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTTATAACCGATGATTTTTC	0.358000													31	41					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124863138	124863138	+	Splice_Site	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:124863138T>C	ENST00000529051.1	+	11	2472	c.2213T>C	c.(2212-2214)tTg>tCg	p.L738S	CCDC15_ENST00000344762.5_Splice_Site_p.L738S			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	738						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GGAGTGCCCTTGGTATGTTTC	0.363000													4	11					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38597192	38597192	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:38597192C>T	ENST00000413689.1	-	26	4690	c.4497G>A	c.(4495-4497)aaG>aaA	p.K1499K	SCN5A_ENST00000423572.2_Silent_p.K1498K|SCN5A_ENST00000449557.2_Silent_p.K1445K|SCN5A_ENST00000333535.4_Silent_p.K1499K|SCN5A_ENST00000414099.2_Silent_p.K1481K|SCN5A_ENST00000455624.2_Silent_p.K1498K|SCN5A_ENST00000443581.1_Silent_p.K1498K|SCN5A_ENST00000425664.1_Silent_p.K1481K|SCN5A_ENST00000450102.2_Silent_p.K1445K|SCN5A_ENST00000451551.2_Silent_p.K1445K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1499					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGCCCAGCTTCTTCATGGCAT	0.572000													41	36					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50197917	50197917	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:50197917T>C	ENST00000216267.8	-	2	1945	c.1459A>G	c.(1459-1461)Agg>Ggg	p.R487G	BRD1_ENST00000457780.2_Missense_Mutation_p.R487G|BRD1_ENST00000342989.5_Missense_Mutation_p.R82G|BRD1_ENST00000404760.1_Missense_Mutation_p.R487G|BRD1_ENST00000404034.1_Missense_Mutation_p.R487G|BRD1_ENST00000542442.1_Missense_Mutation_p.R180G	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	487					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCCCGTTCCTGGACAGCCGC	0.607000													31	42					0	0	1	0	0
RBX1	9978	broad.mit.edu	37	22	41363815	41363815	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:41363815T>G	ENST00000216225.8	+	4	281	c.241T>G	c.(241-243)Ttc>Gtc	p.F81V	XPNPEP3_ENST00000544094.1_3'UTR	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	81					DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			large_intestine(1)|lung(3)|skin(1)	5						TGCTTTTCACTTCCACTGCAT	0.453000													27	39					0	0	1	0	0
HMGCR	3156	broad.mit.edu	37	5	74647037	74647037	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:74647037G>T	ENST00000287936.4	+	10	1242	c.1086G>T	c.(1084-1086)aaG>aaT	p.K362N	HMGCR_ENST00000343975.5_Missense_Mutation_p.K362N|HMGCR_ENST00000511206.1_Missense_Mutation_p.K362N	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	362	Linker.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TGACACAAAAGAAAGTCCCAG	0.403000													30	40					9.39395e-14	1.10812e-13	1	1	0
CGREF1	10669	broad.mit.edu	37	2	27327245	27327245	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:27327245A>G	ENST00000404694.3	-	1	360	c.356T>C	c.(355-357)gTt>gCt	p.V119A	CGREF1_ENST00000402550.1_5'UTR|CGREF1_ENST00000312734.4_5'UTR|CGREF1_ENST00000260595.5_5'UTR|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402394.1_5'UTR|CGREF1_ENST00000405600.1_5'UTR			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	0	EF-hand 2.				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTCCTGGAACTGGAACAAG	0.547000													8	20					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29102104	29102104	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:29102104G>A	ENST00000261590.8	+	6	791	c.582G>A	c.(580-582)tcG>tcA	p.S194S	DSG2_ENST00000585206.1_Silent_p.S194S	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	194	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S194S(1)		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)			CCCTGAATTCGAAAATTTCCT	0.368000													33	30					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148881693	148881693	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:148881693C>A	ENST00000296051.2	+	14	2686	c.2546C>A	c.(2545-2547)tCt>tAt	p.S849Y	HPS3_ENST00000460120.1_Missense_Mutation_p.S684Y	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	849						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCATCTGATTCTTTAGCTGAT	0.264000									Hermansky-Pudlak syndrome				22	13					9.95505e-16	1.21017e-15	1	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18715739	18715739	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:18715739G>T	ENST00000433979.1	+	26	3686	c.3570G>T	c.(3568-3570)caG>caT	p.Q1190H	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.Q1190H|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Q1231H	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1190					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTACTTCACAGACTTTTCCTC	0.383000													4	13					0.00024832	0.000256496	1	1	0
ZNF789	285989	broad.mit.edu	37	7	99084495	99084495	+	Missense_Mutation	SNP	G	G	T	rs147857503		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:99084495G>T	ENST00000331410.5	+	5	932	c.662G>T	c.(661-663)aGa>aTa	p.R221I	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R221I(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CAACATCAAAGAATTCACTTT	0.433000													56	91					6.56871e-35	9.13215e-35	1	1	0
MUCL1	118430	broad.mit.edu	37	12	55248375	55248375	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:55248375C>A	ENST00000308796.6	+	1	55	c.9C>A	c.(7-9)ttC>ttA	p.F3L	MUCL1_ENST00000546809.1_Intron|MUCL1_ENST00000547990.1_Intron	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	3						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						CCATGAAGTTCTTAGCAGTCC	0.438000													18	21					5.03518e-11	5.75249e-11	1	1	0
FOCAD	54914	broad.mit.edu	37	9	20770060	20770060	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:20770060G>A	ENST00000380249.1	+	10	1093	c.729G>A	c.(727-729)gcG>gcA	p.A243A	FOCAD_ENST00000338382.6_Silent_p.A243A	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	243						integral to membrane	binding										CAACAGAGGCGATGATGTTTA	0.328000													34	43					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62255000	62255000	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:62255000C>T	ENST00000261517.5	-	33	3456	c.3383G>A	c.(3382-3384)cGa>cAa	p.R1128Q	VPS13C_ENST00000395896.4_Missense_Mutation_p.R1128Q|VPS13C_ENST00000395898.3_Missense_Mutation_p.R1085Q|VPS13C_ENST00000249837.3_Missense_Mutation_p.R1085Q	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1128					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATTTTCTAGTCGGGCAAAAAG	0.328000													10	28					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121001120	121001120	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:121001120T>G	ENST00000273666.6	+	20	2389	c.2118T>G	c.(2116-2118)ttT>ttG	p.F706L	STXBP5L_ENST00000471454.1_Intron|STXBP5L_ENST00000492541.1_Missense_Mutation_p.F706L|STXBP5L_ENST00000472879.1_Intron|STXBP5L_ENST00000497029.1_Missense_Mutation_p.F706L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	706					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)		AAGACAACTTTTGCATGCGTG	0.393000													16	15					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040392	31040392	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:31040392C>T	ENST00000355537.3	+	4	4013	c.3866C>T	c.(3865-3867)tCt>tTt	p.S1289F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACAGCAAATTCTGGATGTATC	0.443000													22	26					0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4626293	4626293	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:4626293C>A	ENST00000261250.3	-	9	1183	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	C12orf4_ENST00000545746.1_Nonsense_Mutation_p.E366*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	366										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TGGACAACTTCTAATTGCTCT	0.393000													32	31					1.61788e-16	1.98668e-16	1	1	0
RNF17	56163	broad.mit.edu	37	13	25376685	25376685	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:25376685C>T	ENST00000255324.5	+	14	1977	c.1925C>T	c.(1924-1926)gCg>gTg	p.A642V	RNF17_ENST00000381921.1_Missense_Mutation_p.A642V|RNF17_ENST00000255325.6_Missense_Mutation_p.A642V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	642					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTTAGAGATGCGCTAGTTTTT	0.318000													41	48					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70644902	70644902	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:70644902G>T	ENST00000298596.6	+	3	1433	c.1350G>T	c.(1348-1350)gaG>gaT	p.E450D	STOX1_ENST00000399169.4_Missense_Mutation_p.E450D|STOX1_ENST00000421961.2_Missense_Mutation_p.E340D|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	450						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TTAGACTGGAGAAACACCCCA	0.493000													73	96					5.32961e-40	7.48757e-40	1	1	0
C5AR1	728	broad.mit.edu	37	19	47823751	47823751	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:47823751G>T	ENST00000355085.3	+	2	739	c.717G>T	c.(715-717)aaG>aaT	p.K239N		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	239					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		GGTCCACCAAGACACTCAAGG	0.582000													53	62					2.81731e-22	3.67173e-22	1	1	0
NBEA	26960	broad.mit.edu	37	13	35782858	35782858	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:35782858G>T	ENST00000400445.3	+	32	5922	c.5388G>T	c.(5386-5388)aaG>aaT	p.K1796N	NBEA_ENST00000379939.2_Missense_Mutation_p.K1793N|NBEA_ENST00000540320.1_Missense_Mutation_p.K1796N|NBEA_ENST00000310336.4_Missense_Mutation_p.K1796N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1796						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGCCTGTAAAGAAACCACCTC	0.428000													15	16					6.72482e-11	7.66641e-11	1	1	0
CEP97	79598	broad.mit.edu	37	3	101483873	101483873	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:101483873G>T	ENST00000341893.3	+	11	2828	c.2076G>T	c.(2074-2076)gaG>gaT	p.E692D	CEP97_ENST00000494050.1_Missense_Mutation_p.E633D|CEP97_ENST00000327230.4_Missense_Mutation_p.E718D			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	692	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CTCCTCAAGAGAAATCATTAC	0.393000													43	52					3.4345e-17	4.25364e-17	1	1	0
CDH2	1000	broad.mit.edu	37	18	25565518	25565518	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:25565518C>A	ENST00000269141.3	-	12	2372	c.1949G>T	c.(1948-1950)aGa>aTa	p.R650I	CDH2_ENST00000399380.3_Missense_Mutation_p.R619I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	650	Cadherin 5.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.R650I(1)|p.R650T(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGTCCAATTTCTCTTAATAGT	0.343000													20	32					8.34094e-07	8.96096e-07	1	1	0
TNFRSF8	943	broad.mit.edu	37	1	12144597	12144597	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:12144597G>A	ENST00000263932.2	+	2	362	c.140G>A	c.(139-141)cGc>cAc	p.R47H	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	47					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGTTACCGCTGCCCCATG	0.567000													41	39					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	29					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188088	57188088	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:57188088C>A	ENST00000331162.4	-	5	1304	c.1034G>T	c.(1033-1035)aGa>aTa	p.R345I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R345I(1)|p.R345T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAATTCTCTTATGTCT	0.443000													14	31					4.75885e-15	5.725e-15	1	1	0
LOC643733	643733	broad.mit.edu	37	11	104776229	104776229	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:104776229G>A	ENST00000532510.1	-	0	3203																											GGAAGCATGCGATGAGTTGTG	0.453000													31	43					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021839	132021839	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:132021839G>T	ENST00000356920.5	+	15	2905	c.2811G>T	c.(2809-2811)gaG>gaT	p.E937D	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	937	Actin-like.						ATP binding										CCTCCCTAGAGAAGAGCTACG	0.617000													17	306					9.16793e-09	1.01164e-08	1	1	0
KIAA2018	205717	broad.mit.edu	37	3	113380267	113380267	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:113380267C>A	ENST00000316407.4	-	7	672	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Nonsense_Mutation_p.E88*	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	88					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TTTTTTATTTCTTCAGCtata	0.274000													22	21					1.96292e-10	2.21926e-10	1	1	0
BRCA2	675	broad.mit.edu	37	13	32914877	32914877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:32914877G>T	ENST00000544455.1	+	11	6612	c.6385G>T	c.(6385-6387)Gaa>Taa	p.E2129*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.E2129*	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2129					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTGCAGTAAAGAATTTAAATT	0.318000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			22	20					7.45023e-12	8.57218e-12	1	1	0
TIAM2	26230	broad.mit.edu	37	6	155575144	155575144	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:155575144G>A	ENST00000461783.3	+	27	5536	c.4263G>A	c.(4261-4263)acG>acA	p.T1421T	TIAM2_ENST00000456144.1_Silent_p.T1450T|TIAM2_ENST00000456877.2_Silent_p.T733T|TIAM2_ENST00000528391.2_Silent_p.T757T|TIAM2_ENST00000367174.2_Silent_p.T797T|TIAM2_ENST00000360366.4_Silent_p.T1445T|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000275246.7_Silent_p.T346T|TIAM2_ENST00000529824.2_Silent_p.T1450T|TIAM2_ENST00000318981.5_Silent_p.T1421T			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1421	PH 2.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGATCCATACGAAGTCAGAAA	0.368000													22	18					0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83222281	83222281	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:83222281A>C	ENST00000562833.1	-	3	202	c.203T>G	c.(202-204)tTt>tGt	p.F68C	RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Silent_p.V258V|CPEB1_ENST00000562019.1_Silent_p.V333V|CPEB1_ENST00000563800.1_Silent_p.V360V|CPEB1_ENST00000398592.2_Silent_p.V107V|CPEB1_ENST00000450751.2_Silent_p.V258V|CPEB1_ENST00000398591.2_Silent_p.V258V|CPEB1_ENST00000564522.1_Silent_p.V258V|CPEB1_ENST00000568128.1_Silent_p.V333V|CPEB1_ENST00000423133.2_Silent_p.V258V|CPEB1_ENST00000261723.6_Silent_p.V336V																							AAGAGCCAAAAACACGGAAGG	0.463000													20	17					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3824685	3824685	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:3824685G>T	ENST00000262367.5	-	12	2977	c.2168C>A	c.(2167-2169)tCa>tAa	p.S723*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.S685*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	723					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGGTTAAATGAATTCATCCC	0.448000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						29	29					5.61819e-17	6.93881e-17	1	1	0
HECW2	57520	broad.mit.edu	37	2	197106879	197106879	+	Silent	SNP	G	G	A	rs146564746	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:197106879G>A	ENST00000260983.3	-	20	3761	c.3579C>T	c.(3577-3579)ttC>ttT	p.F1193F	HECW2_ENST00000409111.1_Silent_p.F837F	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.F1193F(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTTTGGCTTCGAAATCCCGCT	0.478000													59	8					0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83430921	83430921	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:83430921G>A	ENST00000334574.8	-	12	2111	c.1930C>T	c.(1930-1932)Cgt>Tgt	p.R644C	FSD2_ENST00000541889.1_Missense_Mutation_p.R599C			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	644	B30.2/SPRY.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCCTGTTTACGGACATCTGCA	0.463000													5	7					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22132383	22132383	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:22132383A>G	ENST00000389398.5	+	13	1307	c.1211A>G	c.(1210-1212)gAc>gGc	p.D404G	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	404						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCAAACTTGGACAAGACTTCT	0.458000													35	52					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233395072	233395072	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:233395072T>C	ENST00000258229.9	-	5	770	c.536A>G	c.(535-537)gAc>gGc	p.D179G	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TATGGGATGGTCTTCTAATAG	0.418000													8	14					0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49901292	49901292	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:49901292G>A	ENST00000447857.3	+	7	726	c.521G>A	c.(520-522)cGa>cAa	p.R174Q		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	174						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CTCAGCAACCGACGTCTGGTT	0.607000													25	27					0	0	1	0	0
PRR11	55771	broad.mit.edu	37	17	57275147	57275147	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:57275147T>G	ENST00000262293.4	+	9	1323	c.1011T>G	c.(1009-1011)ttT>ttG	p.F337L	CTD-2510F5.6_ENST00000577660.1_Missense_Mutation_p.F44L	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	337										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GGAGAAAGTTTCAGGTAACCC	0.453000													43	43					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170351478	170351478	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:170351478C>T	ENST00000523189.1	+	12	1556	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	464					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.F464F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCAGTTATTCGACCAAAATG	0.418000			T	TRD@	ALL								12	28					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537603	55537603	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:55537603C>A	ENST00000220676.1	+	4	1309	c.1161C>A	c.(1159-1161)ttC>ttA	p.F387L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	387					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)			CATGTTCATTCTCTGCAGATG	0.413000													24	20					3.28513e-13	3.84286e-13	1	1	0
PRC1	9055	broad.mit.edu	37	15	91512699	91512699	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:91512699G>A	ENST00000361188.5	-	13	2938	c.1727C>T	c.(1726-1728)gCc>gTc	p.A576V	PRC1_ENST00000394249.3_Missense_Mutation_p.A576V|PRC1_ENST00000442656.2_Intron|PRC1_ENST00000361919.3_Intron|PRC1-AS1_ENST00000554388.1_RNA|PRC1-AS1_ENST00000556200.1_RNA			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	576	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					ATAGGTGCTGGCAACAGAATT	0.552000													61	65					0	0	1	0	0
FBXO9	26268	broad.mit.edu	37	6	52960341	52960341	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:52960341C>T	ENST00000244426.6	+	11	1286	c.1114C>T	c.(1114-1116)Cgt>Tgt	p.R372C	FBXO9_ENST00000370939.3_Missense_Mutation_p.R328C|FBXO9_ENST00000323557.7_Missense_Mutation_p.R362C	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	372						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					CAGATATTTTCGTCGTGTCCC	0.383000													14	18					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37547516	37547516	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:37547516C>A	ENST00000264741.5	+	7	1024	c.768C>A	c.(766-768)ttC>ttA	p.F256L	ITGA9_ENST00000422441.1_Missense_Mutation_p.F256L	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	256					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CTGGCCACTTCTCTCACCCGT	0.527000													4	14					0.00024832	0.000256496	1	1	0
SLC39A7	7922	broad.mit.edu	37	6	33171492	33171492	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:33171492G>A	ENST00000374677.3	+	7	1685	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	SLC39A7_ENST00000374675.3_Missense_Mutation_p.E438K|SLC39A7_ENST00000463972.1_3'UTR	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	438				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).		endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGTGTTGCCCGAGCTGCTGAG	0.562000													50	68					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64168350	64168350	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:64168350A>G	ENST00000395391.1	+	4	3043	c.1668A>G	c.(1666-1668)gaA>gaG	p.E556E	ZNF107_ENST00000423627.1_Silent_p.E556E|ZNF107_ENST00000344930.3_Silent_p.E556E			Q9UII5	ZN107_HUMAN	zinc finger protein 107	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AATGTGAAGAACATGGCAAAG	0.348000													30	33					0	0	1	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513441	50513441	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:50513441T>G	ENST00000419119.1	-	2	3098	c.1545A>C	c.(1543-1545)gaA>gaC	p.E515D	FIGNL1_ENST00000356889.4_Missense_Mutation_p.E515D|FIGNL1_ENST00000395556.2_Missense_Mutation_p.E515D|FIGNL1_ENST00000433017.1_Missense_Mutation_p.E515D			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	515					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTCTAGAAGATTCATGCTCAC	0.413000													55	59					0	0	1	0	0
CGRRF1	10668	broad.mit.edu	37	14	54976772	54976772	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:54976772T>C	ENST00000216420.7	+	1	227	c.95T>C	c.(94-96)gTa>gCa	p.V32A		NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	32					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						ACCGGCCTGGTATTGGGATGG	0.612000											OREG0022692	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	41					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641855	57641855	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:57641855A>C	ENST00000254181.4	+	4	2266	c.1812A>C	c.(1810-1812)caA>caC	p.Q604H	USP29_ENST00000598197.1_Missense_Mutation_p.Q604H	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	604					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCGACCTACAAAGATTCCAGA	0.478000													30	33					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21083623	21083623	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:21083623G>A	ENST00000255882.6	-	39	4746	c.4660C>T	c.(4660-4662)Cta>Tta	p.L1554L	PI4KA_ENST00000572273.1_Silent_p.L1496L|PI4KA_ENST00000414196.3_Silent_p.L306L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1496					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGCACGGCTAGGTAGGGAGAG	0.622000													13	19					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3653748	3653748	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:3653748C>T	ENST00000263087.4	-	16	2020	c.1922G>A	c.(1921-1923)gGa>gAa	p.G641E		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	641					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GTACTGGAGTCCTGGGGCCAC	0.622000													28	47					0	0	1	0	0
ZBTB32	27033	broad.mit.edu	37	19	36206035	36206035	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:36206035G>A	ENST00000392197.2	+	3	825	c.507G>A	c.(505-507)tcG>tcA	p.S169S	ZBTB32_ENST00000262630.3_Silent_p.S169S			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	169					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACAAGCACTCGCCACCAAGAG	0.562000													21	30					0	0	1	0	0
ZNHIT1	10467	broad.mit.edu	37	7	100866768	100866768	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:100866768G>T	ENST00000305105.2	+	3	732	c.204G>T	c.(202-204)aaG>aaT	p.K68N	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	68	Poly-Lys.						metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					GAAAGAAAAAGAAGAAAACCC	0.532000													79	82					5.52927e-58	7.92038e-58	1	1	0
ECE1	1889	broad.mit.edu	37	1	21605859	21605859	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:21605859C>T	ENST00000357071.4	-	1	183	c.69G>A	c.(67-69)acG>acA	p.T23T	ECE1_ENST00000436918.2_Intron|ECE1_ENST00000264205.6_Intron|ECE1_ENST00000415912.2_Intron|ECE1_ENST00000374893.6_Intron	NM_001113347.1	NP_001106818.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	0					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GCGGGGAAGACGTGAGCCCCG	0.701000													26	35					0	0	1	0	0
ZNF19	7567	broad.mit.edu	37	16	71509992	71509992	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:71509992C>A	ENST00000288177.5	-	6	713	c.458G>T	c.(457-459)aGa>aTa	p.R153I	AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.R83I|ZNF19_ENST00000564230.1_Missense_Mutation_p.R153I|ZNF19_ENST00000565637.1_Missense_Mutation_p.R111I|ZNF19_ENST00000567225.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	153						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		ACAGGGGATTCTTGGAACCTT	0.463000													24	12					3.5997e-14	4.2784e-14	1	1	0
LRRC34	151827	broad.mit.edu	37	3	169524705	169524705	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:169524705G>T	ENST00000522526.2	-	5	896	c.459C>A	c.(457-459)ctC>ctA	p.L153L	LRRC34_ENST00000316515.7_Silent_p.L140L|LRRC34_ENST00000446859.1_Silent_p.L153L|LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000522830.1_Silent_p.L92L			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	140										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TTAAGTAAATGAGATTAAGTT	0.294000													9	24					7.48243e-07	8.04836e-07	1	1	0
VIT	5212	broad.mit.edu	37	2	37041349	37041349	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:37041349G>A	ENST00000379242.3	+	16	2229	c.1927G>A	c.(1927-1929)Gtt>Att	p.V643I	VIT_ENST00000389975.3_Missense_Mutation_p.V628I|VIT_ENST00000404084.1_Missense_Mutation_p.V580I|VIT_ENST00000497382.1_Missense_Mutation_p.V297I|VIT_ENST00000401530.1_Missense_Mutation_p.V607I|VIT_ENST00000379241.3_Missense_Mutation_p.V606I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	628	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGCGATAGGCGTTGCCTGGGC	0.512000													27	35					0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	94984839	94984839	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:94984839C>T	ENST00000375643.3	-	33	3935	c.3669G>A	c.(3667-3669)agG>agA	p.R1223R	IARS_ENST00000375629.3_3'UTR|IARS_ENST00000443024.2_Silent_p.R1223R|IARS_ENST00000447699.2_Silent_p.R1113R	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1223					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GCTTTAGCTTCCTGCTCCGAA	0.463000													134	142					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20629177	20629177	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:20629177G>T	ENST00000525748.1	+	5	1237	c.964G>T	c.(964-966)Gat>Tat	p.D322Y		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	322					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGAATGCAAAGATAAAACCAA	0.358000													51	52					1.51926e-22	1.98583e-22	1	1	0
TTC21B	79809	broad.mit.edu	37	2	166785810	166785810	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:166785810C>A	ENST00000243344.7	-	11	1358	c.1221G>T	c.(1219-1221)aaG>aaT	p.K407N		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	407						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GTTTATTTTTCTTCATGGCAA	0.294000													8	13					1.12685e-05	1.18835e-05	1	1	0
PCSK9	255738	broad.mit.edu	37	1	55523782	55523782	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:55523782C>A	ENST00000302118.5	+	8	1544	c.1254C>A	c.(1252-1254)ttC>ttA	p.F418L	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.F218L	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	418	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TGATCCACTTCTCTGCCAAAG	0.617000													52	52					4.86159e-25	6.46878e-25	1	1	0
VHLL	391104	broad.mit.edu	37	1	156268786	156268786	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:156268786G>A	ENST00000339922.3	-	1	642	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	65	Beta-domain.				protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CAGGCAGCACGATTCGTGGGC	0.607000													34	34					0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136472384	136472384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:136472384C>T	ENST00000308191.6	+	6	772	c.469C>T	c.(469-471)Cga>Tga	p.R157*	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	157					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GACCTTACACCGATTTTTAGG	0.388000													15	29					0	0	1	0	0
DZANK1	55184	broad.mit.edu	37	20	18377125	18377125	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:18377125G>T	ENST00000357236.4	-	16	1919	c.1260C>A	c.(1258-1260)gtC>gtA	p.V420V	DZANK1_ENST00000329494.5_Silent_p.V536V|DZANK1_ENST00000358866.6_Silent_p.V534V|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Silent_p.V534V			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	361						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CCTTGTTTGAGACTTGACTAT	0.353000													32	37					2.48696e-23	3.26513e-23	1	1	0
LIFR	3977	broad.mit.edu	37	5	38489298	38489298	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:38489298C>T	ENST00000263409.4	-	16	2379	c.2217G>A	c.(2215-2217)tcG>tcA	p.S739S	LIFR_ENST00000453190.2_Silent_p.S739S	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	739	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTACTAATATCGAATCTGCAG	0.358000			T	PLAG1	salivary adenoma								21	23					0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117875450	117875450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:117875450G>A	ENST00000297338.2	-	3	480	c.193C>T	c.(193-195)Cga>Tga	p.R65*	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	65					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TGATAGATTCGAACTACTCCC	0.373000													40	50					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58585502	58585502	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:58585502T>G	ENST00000317147.5	-	23	3524	c.3192A>C	c.(3190-3192)aaA>aaC	p.K1064N	CNOT1_ENST00000569240.1_Missense_Mutation_p.K1059N|CNOT1_ENST00000245138.4_5'UTR|CNOT1_ENST00000441024.2_Missense_Mutation_p.K1064N	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1064					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGGCACATCTTTCTTAAAGC	0.378000													46	55					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66205032	66205032	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:66205032G>T	ENST00000503581.1	-	4	809	c.272C>A	c.(271-273)tCt>tAt	p.S91Y	EYS_ENST00000393380.2_Missense_Mutation_p.S91Y|EYS_ENST00000370618.3_Missense_Mutation_p.S91Y|EYS_ENST00000342421.5_Missense_Mutation_p.S91Y|EYS_ENST00000370616.2_Missense_Mutation_p.S91Y|EYS_ENST00000370621.3_Missense_Mutation_p.S91Y	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	91					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGGTTCAGAAGAAATTACAAG	0.358000													45	44					5.20006e-24	6.87114e-24	1	1	0
CHD4	1108	broad.mit.edu	37	12	6710105	6710105	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:6710105C>T	ENST00000309577.6	-	7	1077	c.914G>A	c.(913-915)cGt>cAt	p.R305H	CHD4_ENST00000544040.1_Missense_Mutation_p.R298H|CHD4_ENST00000544484.1_Missense_Mutation_p.R302H|CHD4_ENST00000357008.2_Missense_Mutation_p.R305H			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	305					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGATCTCTTACGCTTGGAACC	0.512000													92	109					0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47289480	47289480	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:47289480C>A	ENST00000467728.1	+	7	2243	c.1005C>A	c.(1003-1005)ttC>ttA	p.F335L	NR1H3_ENST00000407404.1_Missense_Mutation_p.F275L|NR1H3_ENST00000527949.1_Missense_Mutation_p.F184L|NR1H3_ENST00000481889.2_Missense_Mutation_p.F354L|NR1H3_ENST00000405853.3_Missense_Mutation_p.F275L|NR1H3_ENST00000395397.3_Missense_Mutation_p.F290L|NR1H3_ENST00000441012.2_Missense_Mutation_p.F335L|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Missense_Mutation_p.F230L			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	335	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AAGTGGAATTCATCAACCCCA	0.517000													24	27					7.87624e-14	9.31353e-14	1	1	0
OR52H1	390067	broad.mit.edu	37	11	5566093	5566093	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:5566093G>T	ENST00000322653.4	-	1	686	c.661C>A	c.(661-663)Ctc>Atc	p.L221I	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGCAATGAGAATCACATCT	0.507000													35	30					9.04072e-19	1.13981e-18	1	1	0
PIWIL1	9271	broad.mit.edu	37	12	130833873	130833873	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:130833873G>A	ENST00000245255.3	+	8	1096	c.824G>A	c.(823-825)cGa>cAa	p.R275Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	275					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AAAGTCCTTCGAAGTGAGACT	0.388000													19	18					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59969033	59969033	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:59969033C>T	ENST00000444766.3	-	14	1815	c.1740G>A	c.(1738-1740)caG>caA	p.Q580Q	INTS2_ENST00000251334.6_Silent_p.Q572Q	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	580					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TTTCACACAGCTGTCTATAAA	0.328000													32	29					0	0	1	0	0
CSK	1445	broad.mit.edu	37	15	75091689	75091689	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:75091689C>T	ENST00000220003.9	+	5	1048	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	CSK_ENST00000309470.9_Missense_Mutation_p.R107W|CSK_ENST00000439220.2_Missense_Mutation_p.R107W|CSK_ENST00000567571.1_Missense_Mutation_p.R107W	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	107	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GTTCCTGGTGCGGGAGAGCAC	0.627000													21	30					0	0	1	0	0
B3GNT6	192134	broad.mit.edu	37	11	76751673	76751673	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:76751673G>A	ENST00000533140.1	+	2	1216	c.1078G>A	c.(1078-1080)Gcg>Acg	p.A360T	B3GNT6_ENST00000354301.5_Missense_Mutation_p.A359T|B3GNT6_ENST00000421061.1_Missense_Mutation_p.A238T			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	359					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GCACCGCTTCGCGCCCTACGA	0.667000													5	11					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158906843	158906843	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:158906843T>G	ENST00000368140.1	+	2	388	c.143T>G	c.(142-144)aTt>aGt	p.I48S	PYHIN1_ENST00000392252.3_Missense_Mutation_p.I48S|PYHIN1_ENST00000368138.3_Missense_Mutation_p.I48S|PYHIN1_ENST00000392254.2_Missense_Mutation_p.I48S|PYHIN1_ENST00000368135.4_Missense_Mutation_p.I48S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	48	DAPIN.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAAATTCAGATTGCTGACTTG	0.358000													25	50					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14863201	14863201	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:14863201C>T	ENST00000315576.3	-	15	2179	c.1728G>A	c.(1726-1728)tcG>tcA	p.S576S	EMR2_ENST00000594076.1_Silent_p.S483S|EMR2_ENST00000596991.2_Silent_p.S565S|EMR2_ENST00000346057.1_Silent_p.S527S|EMR2_ENST00000392965.3_Silent_p.S518S|EMR2_ENST00000594294.1_Silent_p.S527S|EMR2_ENST00000601345.1_Silent_p.S565S|EMR2_ENST00000353005.1_Silent_p.S434S|EMR2_ENST00000392967.2_Silent_p.S565S|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000353876.1_Silent_p.S483S|EMR2_ENST00000595839.1_Silent_p.S434S	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	576					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGAGGCAGAGCGAGAGCTGCA	0.582000													21	46					0	0	1	0	0
TRIM43	129868	broad.mit.edu	37	2	96260853	96260853	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:96260853G>T	ENST00000272395.2	+	3	603	c.467G>T	c.(466-468)aGa>aTa	p.R156I		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	156						intracellular	zinc ion binding			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						GAAAATCAGAGAAATCTATAT	0.403000													7	16					1.26484e-09	1.41591e-09	1	1	0
SH3RF2	153769	broad.mit.edu	37	5	145439781	145439781	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:145439781C>T	ENST00000511217.1	+	8	1960	c.1908C>T	c.(1906-1908)atC>atT	p.I636I	SH3RF2_ENST00000359120.4_Silent_p.I636I|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	636							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAATGGCATCGAAAAGGTAG	0.483000													55	66					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167279808	167279808	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:167279808G>A	ENST00000409855.1	-	18	3114	c.2988C>T	c.(2986-2988)ttC>ttT	p.F996F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	996					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGCCATTAGAGAAATAGGCCT	0.323000													23	32					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49228154	49228154	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:49228154G>A	ENST00000222145.4	-	9	2395	c.2191C>T	c.(2191-2193)Ccg>Tcg	p.P731S		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	731	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCAGGCCCCGGCAGCTCTGCA	0.582000													59	66					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	34998865	34998865	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:34998865G>A	ENST00000231420.6	-	14	1704	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	502					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AAGGCAGAACGAAATACTTCT	0.378000													28	24					0	0	1	0	0
AARS	16	broad.mit.edu	37	16	70289644	70289644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:70289644G>A	ENST00000261772.8	-	16	2416	c.2273C>T	c.(2272-2274)gCc>gTc	p.A758V	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	758					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CTGGGCCTCGGCACCTGTGAC	0.557000													20	16					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14750252	14750252	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:14750252A>G	ENST00000380881.4	-	31	6248	c.5433T>C	c.(5431-5433)aaT>aaC	p.N1811N	FREM1_ENST00000380894.1_Silent_p.N346N|FREM1_ENST00000422223.2_Silent_p.N1810N|FREM1_ENST00000380880.3_Silent_p.N1810N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1810	Calx-beta.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TAATTGCTATATTCCACATCT	0.343000													31	46					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810432	140810432	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140810432C>T	ENST00000252085.3	+	1	248	c.106C>T	c.(106-108)Ccg>Tcg	p.P36S	PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATTCAGTTCCGGAAGAGCT	0.642000													73	104					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179396493	179396493	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179396493G>A	ENST00000589042.1	-	358	105073	c.104849C>T	c.(104848-104850)tCg>tTg	p.S34950L	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S25885L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26077L|TTN_ENST00000359218.5_Missense_Mutation_p.S26010L|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S32382L|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S33309L|TTN-AS1_ENST00000431259.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33309							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)			TACCCTGTGCGAGCGCATTCT	0.443000													39	36					0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13743342	13743342	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:13743342C>A	ENST00000532502.1	+	1	1893	c.65C>A	c.(64-66)tCt>tAt	p.S22Y	FAR1_ENST00000354817.3_Missense_Mutation_p.S398Y			Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	398					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						ACAAGTAATTCTTGGGTTTGG	0.289000													15	20					6.31663e-08	6.90016e-08	1	1	0
LRRK1	79705	broad.mit.edu	37	15	101589879	101589879	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:101589879G>T	ENST00000284395.5	+	24	3721	c.3321G>T	c.(3319-3321)aaG>aaT	p.K1107N	LRRK1_ENST00000388948.3_Missense_Mutation_p.K1110N			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1110					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACTGGAAAAAGAAGAAAAGCG	0.488000													19	31					5.3912e-06	5.72051e-06	1	1	0
SNCAIP	9627	broad.mit.edu	37	5	121799256	121799256	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:121799256G>T	ENST00000261367.7	+	14	4465	c.3037G>T	c.(3037-3039)Gaa>Taa	p.E1013*	SNCAIP_ENST00000379536.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000261368.8_3'UTR|SNCAIP_ENST00000414317.2_3'UTR|SNCAIP_ENST00000379538.3_Nonsense_Mutation_p.E600*|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379533.2_Nonsense_Mutation_p.E1013*|SNCAIP_ENST00000542191.1_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	0					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGAGTCAAAAGAACTCTTCTT	0.358000													14	15					9.31168e-06	9.8413e-06	1	1	0
GTF2E1	2960	broad.mit.edu	37	3	120489640	120489640	+	Missense_Mutation	SNP	G	G	T	rs137976106	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:120489640G>T	ENST00000283875.5	+	3	607	c.514G>T	c.(514-516)Gat>Tat	p.D172Y		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	172					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GCCCAAAAAAGATGCACGCAC	0.418000													114	160					7.79638e-53	1.1129e-52	1	1	0
DENND2A	27147	broad.mit.edu	37	7	140267045	140267045	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:140267045C>A	ENST00000275884.6	-	8	2037	c.1620G>T	c.(1618-1620)aaG>aaT	p.K540N	DENND2A_ENST00000496613.1_Missense_Mutation_p.K540N|DENND2A_ENST00000537639.1_Missense_Mutation_p.K540N|DENND2A_ENST00000492720.1_Missense_Mutation_p.K540N			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	540										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCAGCCGGGACTTCACGTTGA	0.562000													15	14					4.7546e-09	5.27048e-09	1	1	0
KAT6B	23522	broad.mit.edu	37	10	76602941	76602941	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:76602941A>C	ENST00000287239.4	+	3	815	c.326A>C	c.(325-327)aAa>aCa	p.K109T	KAT6B_ENST00000372724.1_Missense_Mutation_p.K109T|KAT6B_ENST00000372714.1_Missense_Mutation_p.K109T|KAT6B_ENST00000372711.1_Missense_Mutation_p.K109T|KAT6B_ENST00000372725.1_Missense_Mutation_p.K109T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	109	H15.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	p.N108_R112delNKLLR(1)									GATTGGAATAAACTTTTAAGG	0.453000													82	111					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20698296	20698296	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:20698296G>T	ENST00000404938.2	+	14	2356	c.1704G>T	c.(1702-1704)gaG>gaT	p.E568D	ABCB5_ENST00000443026.2_Missense_Mutation_p.E123D|ABCB5_ENST00000258738.6_Missense_Mutation_p.E123D|ABCB5_ENST00000406935.1_Missense_Mutation_p.E123D	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	123					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTGCACTGGAGAAGGTAAGTG	0.403000													17	28					1.02788e-11	1.18115e-11	1	1	0
DDX1	1653	broad.mit.edu	37	2	15746297	15746297	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:15746297C>T	ENST00000381341.2	+	13	1115	c.726C>T	c.(724-726)ttC>ttT	p.F242F	DDX1_ENST00000233084.3_Silent_p.F242F			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	242	B30.2/SPRY.|Helicase ATP-binding.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		AATTTAACTTCGGTGAAGAGG	0.348000													34	51					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43511804	43511804	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:43511804G>A	ENST00000039989.4	+	22	3060	c.3046G>A	c.(3046-3048)Gtc>Atc	p.V1016I		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1016							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GACGTCCTGGGTCCTCTCCAG	0.502000													46	44					0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15234553	15234553	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:15234553G>A	ENST00000395930.1	-	3	536	c.350C>T	c.(349-351)tCg>tTg	p.S117L	TEKT3_ENST00000338696.2_Missense_Mutation_p.S117L	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	117					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TAGTTTCTCCGAATTATGTCG	0.423000													67	85					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24843975	24843975	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:24843975G>A	ENST00000313367.2	-	22	2977	c.2526C>T	c.(2524-2526)gtC>gtT	p.V842V	OSBPL3_ENST00000396431.1_Silent_p.V811V|OSBPL3_ENST00000431825.2_Silent_p.V775V|OSBPL3_ENST00000396429.1_Silent_p.V806V|OSBPL3_ENST00000353930.1_Silent_p.V806V|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000409069.1_Silent_p.V775V|OSBPL3_ENST00000352860.1_Silent_p.V811V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	842					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTTCTTCTAAGACCCGCCGCC	0.468000													32	42					0	0	1	0	0
SYPL1	6856	broad.mit.edu	37	7	105739664	105739664	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:105739664T>A	ENST00000455385.2	-	2	256	c.134A>T	c.(133-135)aAt>aTt	p.N45I	SYPL1_ENST00000470347.1_Missense_Mutation_p.N45I|SYPL1_ENST00000011473.2_Missense_Mutation_p.N63I	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	63	MARVEL.				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						AGGAGGACAATTCACTTGAAT	0.333000													19	48					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56344801	56344801	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:56344801G>T	ENST00000262290.4	+	12	2101	c.1785G>T	c.(1783-1785)aaG>aaT	p.K595N	LPO_ENST00000421678.2_Missense_Mutation_p.K512N|LPO_ENST00000582328.1_Missense_Mutation_p.K512N|LPO_ENST00000543544.1_Missense_Mutation_p.K536N	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	595					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGCTGGCCAAGAAGTTACTGG	0.577000													41	65					8.04919e-23	1.05418e-22	1	1	0
SCFD1	23256	broad.mit.edu	37	14	31097440	31097440	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:31097440C>A	ENST00000458591.2	+	2	314	c.87C>A	c.(85-87)ttC>ttA	p.F29L	SCFD1_ENST00000421551.3_5'UTR|SCFD1_ENST00000544052.2_Intron|SCFD1_ENST00000396629.2_Intron|SCFD1_ENST00000541123.1_5'UTR	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	29					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TGTTGAATTTCAATGTGCCTC	0.328000													16	20					7.05477e-17	8.70501e-17	1	1	0
SMC5	23137	broad.mit.edu	37	9	72965054	72965054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:72965054C>T	ENST00000361138.5	+	23	2972	c.2914C>T	c.(2914-2916)Cga>Tga	p.R972*	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	972					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						ATATGGAATTCGAATTAGAGT	0.299000													12	25					0	0	1	0	0
ANP32A	8125	broad.mit.edu	37	15	69079815	69079815	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:69079815C>T	ENST00000465139.2	-	3	407	c.264G>A	c.(262-264)ccG>ccA	p.P88P	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Silent_p.P88P	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	88					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						GCGTGAGGTTCGGACACTTTT	0.458000													65	64					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768713	140768713	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140768713C>T	ENST00000519479.1	+	1	1262	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAACCGTTACGGCAACAGAT	0.453000													76	90					0	0	1	0	0
FAM163A	148753	broad.mit.edu	37	1	179783133	179783133	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:179783133T>G	ENST00000341785.4	+	5	709	c.313T>G	c.(313-315)Ttt>Gtt	p.F105V		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	105						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						CAGCTCCCCCTTTTACATACG	0.647000													20	49					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104067204	104067204	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:104067204T>C	ENST00000265148.3	-	30	4284	c.4195A>G	c.(4195-4197)Act>Gct	p.T1399A	CENPE_ENST00000380026.3_Missense_Mutation_p.T1374A	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1399					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTTTGGTAGTTTCATTGTCT	0.358000													29	28					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173805	51173805	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:51173805C>A	ENST00000440970.1	-	2	2468	c.2037G>T	c.(2035-2037)acG>acT	p.T679T	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.T776T	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	776					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T776T(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCACAGCGTTCGTGAACTTCT	0.557000													44	59					1.8453e-21	2.38916e-21	1	1	0
LOC101929950	101929950	broad.mit.edu	37	17	36359043	36359043	+	Splice_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:36359043C>A	ENST00000312412.4	-	6	648		c.e6-1		RP11-1407O15.2_ENST00000544906.1_Splice_Site																kidney(1)|lung(3)	4						CAATTACATTCTTTAAGAAAG	0.358000													26	178					1.42536e-11	1.63612e-11	1	1	0
ACBD3	64746	broad.mit.edu	37	1	226349248	226349248	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:226349248G>A	ENST00000366812.5	-	4	766	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	238	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	p.R238W(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TGCTCCAACCGAAGcctttct	0.408000													37	47					0	0	1	0	0
GJD4	219770	broad.mit.edu	37	10	35897090	35897090	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:35897090G>T	ENST00000321660.1	+	2	807	c.649G>T	c.(649-651)Gtc>Ttc	p.V217F		NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	217					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CGCCGACCTGGTCTGCAGCCT	0.701000													5	7					0.000602214	0.000618688	1	1	0
PCDH9	5101	broad.mit.edu	37	13	67802243	67802243	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:67802243G>T	ENST00000544246.1	-	2	1021	c.330C>A	c.(328-330)ttC>ttA	p.F110L	PCDH9_ENST00000456367.1_Missense_Mutation_p.F110L|PCDH9_ENST00000377865.2_Missense_Mutation_p.F110L|PCDH9_ENST00000328454.5_Missense_Mutation_p.F110L|PCDH9_ENST00000377861.3_Missense_Mutation_p.F110L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	110	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CAAGTTCAAAGAAACACTCAT	0.418000													55	48					1.11015e-26	1.49129e-26	1	1	0
SCRN3	79634	broad.mit.edu	37	2	175269045	175269045	+	Splice_Site	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:175269045T>C	ENST00000272732.6	+	5	836		c.e5+2		SCRN3_ENST00000409673.3_Splice_Site	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3						proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AGCACAAAGGTAATTTTATCA	0.323000													24	15					0	0	1	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36840679	36840679	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:36840679G>T	ENST00000557188.1	+	0	310																											GCTCACCGAAGAAAATTCCCG	0.473000													22	16					6.32553e-13	7.3784e-13	1	1	0
CCDC39	339829	broad.mit.edu	37	3	180369240	180369240	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:180369240C>A	ENST00000273654.4	-	15	1987	c.1368G>T	c.(1366-1368)gaG>gaT	p.E456D	CCDC39_ENST00000442201.2_Missense_Mutation_p.E372D			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	372					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAGTAGCTTTCTCTTCTACAG	0.289000													3	3					0.115264	0.115763	1	1	0
P2RX2	22953	broad.mit.edu	37	12	133197044	133197044	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:133197044G>A	ENST00000389110.3	+	7	686	c.649G>A	c.(649-651)Gac>Aac	p.D217N	P2RX2_ENST00000343948.4_Missense_Mutation_p.D217N|P2RX2_ENST00000348800.5_Missense_Mutation_p.D217N|P2RX2_ENST00000449132.2_Missense_Mutation_p.R181Q|P2RX2_ENST00000351222.4_Missense_Mutation_p.D125N|P2RX2_ENST00000350048.5_Missense_Mutation_p.D193N|P2RX2_ENST00000352418.4_Missense_Mutation_p.D145N	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	217					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CAACATCGCCGACCGCACAGA	0.647000													51	57					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900675	4900675	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:4900675C>A	ENST00000404991.1	-	1	950	c.764G>T	c.(763-765)aGa>aTa	p.R255I	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	255					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CTGACAAGTTCTTGCTACTAG	0.443000													61	81					4.13886e-29	5.64949e-29	1	1	0
DERL1	79139	broad.mit.edu	37	8	124054326	124054326	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:124054326C>T	ENST00000259512.4	-	1	337	c.37G>A	c.(37-39)Gcg>Acg	p.A13T	DERL1_ENST00000405944.3_Missense_Mutation_p.A13T|DERL1_ENST00000419562.2_Missense_Mutation_p.A13T	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	13					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGCGTGATCGCCGGGATGCTC	0.647000													14	19					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534596	3534596	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:3534596C>T	ENST00000315677.3	-	10	2670	c.2075G>A	c.(2074-2076)cGa>cAa	p.R692Q	DLGAP1_ENST00000400155.1_Missense_Mutation_p.R398Q|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R382Q|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R390Q|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R408Q|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R400Q|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R376Q|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R692Q|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R398Q|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R692Q|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R390Q|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R692Q	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	692					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ACTGTTGGATCGAGTGAACCT	0.433000													21	35					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154138928	154138928	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:154138928G>T	ENST00000389740.2	-	3	1622	c.1523C>A	c.(1522-1524)tCt>tAt	p.S508Y		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	508						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGGCCCTTCAGAAAAGGTAGT	0.403000													60	54					5.86059e-21	7.56036e-21	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40671949	40671949	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:40671949A>C	ENST00000298910.7	+	18	2185	c.2127A>C	c.(2125-2127)aaA>aaC	p.K709N	LRRK2_ENST00000343742.2_Missense_Mutation_p.K709N	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	709					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATTACTTAAAAAATGTGATGC	0.368000													43	44					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37955813	37955813	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:37955813C>T	ENST00000436072.2	-	1	704	c.327G>A	c.(325-327)gaG>gaA	p.E109E	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	109	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TCATGAGGGGCTCGCAGTCGT	0.622000													21	29					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1643178	1643178	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:1643178C>T	ENST00000252804.4	-	20	4019	c.3969G>A	c.(3967-3969)ggG>ggA	p.G1323G		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1323					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CATTGAACTGCCCCCTGGTCC	0.488000													34	33					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142525070	142525070	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:142525070G>T	ENST00000273482.6	+	12	2664	c.2273G>T	c.(2272-2274)aGa>aTa	p.R758I	TRPC1_ENST00000476941.1_Missense_Mutation_p.R792I	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	792					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTTTATCCAAGAAATTAACCA	0.303000													26	20					3.01185e-09	3.34629e-09	1	1	0
RYR1	6261	broad.mit.edu	37	19	39001196	39001196	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:39001196C>A	ENST00000355481.4	+	59	9122	c.8991C>A	c.(8989-8991)ttC>ttA	p.F2997L	RYR1_ENST00000359596.3_Missense_Mutation_p.F2997L|RYR1_ENST00000360985.3_Missense_Mutation_p.F2997L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2997					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	AGATTAAATTCTTTGCCAAGG	0.562000													52	68					1.83081e-24	2.42396e-24	1	1	0
CHD9	80205	broad.mit.edu	37	16	53190255	53190255	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:53190255C>A	ENST00000566029.1	+	2	463	c.254C>A	c.(253-255)tCt>tAt	p.S85Y	CHD9_ENST00000398510.3_Missense_Mutation_p.S85Y|CHD9_ENST00000447540.1_Missense_Mutation_p.S85Y|CHD9_ENST00000564845.1_Missense_Mutation_p.S85Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	85					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GTTAATCAATCTTTTGGTAGC	0.368000													37	50					1.06647e-15	1.29438e-15	1	1	0
NEFL	4747	broad.mit.edu	37	8	24810237	24810237	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:24810237C>A	ENST00000221169.5	-	0	2313							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CACATAGAATCTGGAACTCAA	0.358000													13	12					7.03913e-09	7.78993e-09	1	1	0
MRPL37	51253	broad.mit.edu	37	1	54678230	54678230	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:54678230G>A	ENST00000605337.1	+	5	937	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	MRPL37_ENST00000336230.6_Missense_Mutation_p.A166T|MRPL37_ENST00000360840.5_Missense_Mutation_p.A297T			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	297					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						ACTGGACAAAGCCAATTTACG	0.527000													87	103					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040998	88040998	+	Nonstop_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:88040998T>C	ENST00000319595.4	+	1	1153	c.1099T>C	c.(1099-1101)Tag>Cag	p.*367Q		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	0					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ATGTCGATGTTAGTTTTAAAA	0.338000													23	34					0	0	1	0	0
C3orf35	339883	broad.mit.edu	37	3	37458861	37458861	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:37458861G>T	ENST00000328376.5	+	5	1083	c.104G>T	c.(103-105)aGa>aTa	p.R35I	C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000426078.1_Missense_Mutation_p.R35I|C3orf35_ENST00000425564.2_Missense_Mutation_p.R35I|C3orf35_ENST00000452017.2_Missense_Mutation_p.R35I|C3orf35_ENST00000425932.1_Missense_Mutation_p.R35I	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	35						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTTCACACAAGAATTGGAGGA	0.423000													52	75					4.25531e-23	5.58543e-23	1	1	0
DPY19L1	23333	broad.mit.edu	37	7	34989478	34989478	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:34989478G>T	ENST00000310974.4	-	14	1278	c.1134C>A	c.(1132-1134)ttC>ttA	p.F378L		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	378						integral to membrane		p.F378L(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TATAACTAAAGAATTTTGATG	0.294000													7	13					5.18039e-06	5.50011e-06	1	1	0
NEK7	140609	broad.mit.edu	37	1	198248123	198248123	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:198248123T>C	ENST00000367385.4	+	7	863	c.521T>C	c.(520-522)gTg>gCg	p.V174A	NEK7_ENST00000538004.1_Missense_Mutation_p.V174A	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	174	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						GCCACTGGGGTGGTAAAACTT	0.363000													23	45					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77987619	77987619	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:77987619C>T	ENST00000344720.5	+	12	2367	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	AK5_ENST00000354567.2_Silent_p.F473F	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	473					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GGGAAGAGTTCGGACGCAGGG	0.527000													16	23					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48818842	48818842	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:48818842C>A	ENST00000309835.3	+	2	1991	c.1981C>A	c.(1981-1983)Caa>Aaa	p.Q661K	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.Q661K|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.Q661K|STON1_ENST00000404752.1_Missense_Mutation_p.Q661K|STON1_ENST00000406226.1_Missense_Mutation_p.Q661K|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.Q661K|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.Q661K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.Q661K					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGGATCAGACCAAGAAATTCC	0.438000													50	66					2.74695e-27	3.71343e-27	1	1	0
TCF4	6925	broad.mit.edu	37	18	52928698	52928698	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:52928698G>A	ENST00000354452.3	-	12	1600	c.989C>T	c.(988-990)tCg>tTg	p.S330L	TCF4_ENST00000540999.1_Splice_Site_p.S306L|TCF4_ENST00000570287.2_Splice_Site_p.S170L|TCF4_ENST00000537578.1_Splice_Site_p.S306L|TCF4_ENST00000567880.1_Splice_Site_p.S270L|TCF4_ENST00000561992.1_Splice_Site_p.S200L|TCF4_ENST00000570177.2_Splice_Site_p.S200L|TCF4_ENST00000537856.3_Splice_Site_p.S200L|TCF4_ENST00000565018.2_Splice_Site_p.S330L|TCF4_ENST00000566279.1_Splice_Site_p.S270L|TCF4_ENST00000356073.4_Splice_Site_p.S330L|TCF4_ENST00000568673.1_Splice_Site_p.S306L|TCF4_ENST00000561831.3_Splice_Site_p.S170L|TCF4_ENST00000543082.1_Splice_Site_p.S288L|TCF4_ENST00000564403.2_Splice_Site_p.S336L|TCF4_ENST00000544241.2_Splice_Site_p.S259L|TCF4_ENST00000564999.1_Splice_Site_p.S330L|TCF4_ENST00000566286.1_Splice_Site_p.S328L|TCF4_ENST00000398339.1_Splice_Site_p.S432L|TCF4_ENST00000457482.3_Splice_Site_p.S170L|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000568740.1_Splice_Site_p.S305L|TCF4_ENST00000564228.1_Splice_Site_p.S259L	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	330					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	p.S330L(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTTCCTCACCGAAGCAAGTGC	0.433000													176	195					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121132110	121132110	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:121132110C>T	ENST00000273666.6	+	25	3397	c.3126C>T	c.(3124-3126)ctC>ctT	p.L1042L	STXBP5L_ENST00000471454.1_Silent_p.L1018L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1042					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)		CATTATACCTCGTCTCTCCTA	0.393000													24	40					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56575360	56575360	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:56575360G>A	ENST00000394023.3	-	10	967	c.862C>T	c.(862-864)Cga>Tga	p.R288*	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Nonsense_Mutation_p.R288*|SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.R288*|SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.R288*	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	288					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGTCCCGTCGATCTGAATCT	0.488000													37	31					0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112461835	112461835	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:112461835G>T	ENST00000297145.4	-	5	1347	c.1182C>A	c.(1180-1182)ttC>ttA	p.F394L		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	394										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CTAGCTCATAGAAAGGAATAG	0.393000													54	51					1.46156e-29	1.99756e-29	1	1	0
GON4L	54856	broad.mit.edu	37	1	155744961	155744961	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:155744961C>A	ENST00000437809.1	-	17	2304	c.2182G>T	c.(2182-2184)Gag>Tag	p.E728*	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Nonsense_Mutation_p.E728*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.E728*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.E728*	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	728					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTTCCCAGCTCTTTCTGGGAA	0.443000													40	40					1.89013e-27	2.55839e-27	1	1	0
C7orf60	154743	broad.mit.edu	37	7	112461939	112461939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:112461939G>A	ENST00000297145.4	-	5	1243	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	360										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						atatctGATCGAACATAGCAG	0.398000													29	28					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165353986	165353986	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:165353986C>T	ENST00000263915.3	-	10	1657	c.1119G>A	c.(1117-1119)gaG>gaA	p.E373E	GRB14_ENST00000543549.1_Silent_p.E286E	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	373					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CCAGGGAATTCTCTGATATAC	0.363000													27	39					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6243809	6243809	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:6243809C>T	ENST00000265978.4	-	6	1412	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	FAM160A2_ENST00000449352.2_Missense_Mutation_p.A352T|FAM160A2_ENST00000524416.1_Missense_Mutation_p.A352T	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	352					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCAGATAGGCGGTACTGGCG	0.522000													38	55					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86372899	86372899	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:86372899C>T	ENST00000370571.2	-	28	3122	c.2756G>A	c.(2755-2757)aGt>aAt	p.S919N	COL24A1_ENST00000436319.1_Missense_Mutation_p.S919N	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	919	Collagen-like 7.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGGACCTTGACTCCCAGGTGG	0.348000													19	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179534120	179534120	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179534120G>T	ENST00000589042.1	-	159	35749	c.35525C>A	c.(35524-35526)tCt>tAt	p.S11842Y	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9970	Glu-rich.|Pro-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)			TGTGTCTTCAGAAATAACAAT	0.289000													4	1					1.23904e-05	1.30512e-05	1	1	0
PPP6R1	22870	broad.mit.edu	37	19	55752687	55752687	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:55752687G>T	ENST00000412770.2	-	9	1647	c.1081C>A	c.(1081-1083)Ctc>Atc	p.L361I	PPP6R1_ENST00000587283.1_Missense_Mutation_p.L361I	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	361	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						CTGGCCAGGAGCTTGACCACG	0.662000													16	26					0.00400662	0.00408007	1	1	0
KIF26B	55083	broad.mit.edu	37	1	245850473	245850473	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:245850473C>T	ENST00000366518.4	+	9	3149	c.3045C>T	c.(3043-3045)tgC>tgT	p.C1015C	KIF26B_ENST00000407071.2_Silent_p.C1396C			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1396					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TTTACCCCTGCATTGCCATGA	0.592000													13	17					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141092	143141092	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:143141092G>A	ENST00000332690.1	+	1	547	c.547G>A	c.(547-549)Gat>Aat	p.D183N	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	183					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.D183N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TGTCACTGGCGATAGCATACG	0.408000													78	88					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25023473	25023473	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:25023473G>A	ENST00000400382.1	+	12	1850	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	GGT1_ENST00000400383.1_Silent_p.P365P|GGT1_ENST00000248923.4_Silent_p.P365P|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404920.1_Silent_p.P21P|GGT1_ENST00000404532.1_Silent_p.P21P|GGT1_ENST00000404223.1_Silent_p.P21P|GGT1_ENST00000403838.1_Silent_p.P21P|GGT1_ENST00000401885.1_Silent_p.P21P|GGT1_ENST00000406383.2_Silent_p.P365P|GGT1_ENST00000400380.1_Silent_p.P365P			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	365					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CCACTCACCCGATCTCCTACT	0.637000													14	80					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161833097	161833097	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:161833097C>T	ENST00000367942.3	+	14	1781	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	572					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TGTGTCATTTCGAAGGGTAAG	0.393000													35	37					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687711	61687711	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:61687711T>C	ENST00000577390.1	-	12	3155	c.2201A>G	c.(2200-2202)aAt>aGt	p.N734S	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	734					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CGTGGGATCATTATCTGCCTC	0.493000													21	25					0	0	1	0	0
OXSM	54995	broad.mit.edu	37	3	25832907	25832907	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:25832907T>G	ENST00000280701.3	+	2	495	c.396T>G	c.(394-396)gaT>gaG	p.D132E	OXSM_ENST00000420173.2_Missense_Mutation_p.D132E|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	132					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CCATGAAGGATTCTGGCTGGC	0.448000													3	68					0	0	1	0	0
CXorf67	340602	broad.mit.edu	37	X	51150821	51150821	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:51150821C>T	ENST00000342995.2	+	1	1055	c.953C>T	c.(952-954)gCg>gTg	p.A318V						chromosome X open reading frame 67									p.A318V(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CGCGATTCTGCGCCAGGCCCT	0.736000													7	1					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	76055417	76055417	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:76055417C>A	ENST00000377636.3	-	1	833	c.487G>T	c.(487-489)Gac>Tac	p.D163Y	TBC1D4_ENST00000431480.2_Missense_Mutation_p.D163Y|TBC1D4_ENST00000377625.2_Missense_Mutation_p.D163Y|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	163	PID 1.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TGGCTGGGGTCTGTGGCGCGG	0.687000													25	19					6.21321e-17	7.66838e-17	1	1	0
RASSF9	9182	broad.mit.edu	37	12	86198926	86198926	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:86198926C>A	ENST00000361228.3	-	2	1230	c.862G>T	c.(862-864)Gaa>Taa	p.E288*		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	288					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCTCTTTTTCTATTTCAGCA	0.403000													62	79					1.19403e-26	1.60236e-26	1	1	0
F5	2153	broad.mit.edu	37	1	169510846	169510846	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:169510846C>T	ENST00000367796.3	-	13	3698	c.3497G>A	c.(3496-3498)cGa>cAa	p.R1166Q	F5_ENST00000367797.3_Missense_Mutation_p.R1161Q			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1161	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTTGTGACTTCGGTCATACTC	0.488000													76	138					0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36674410	36674410	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:36674410G>A	ENST00000355114.5	-	5	1304	c.578C>T	c.(577-579)tCt>tTt	p.S193F	ZNF565_ENST00000392173.2_Missense_Mutation_p.S153F|ZNF565_ENST00000304116.5_Missense_Mutation_p.S153F			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TACAGTGTGAGACGTGTGATG	0.468000													79	84					0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94232716	94232716	+	Silent	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:94232716T>G	ENST00000415788.2	-	7	906	c.819A>C	c.(817-819)cgA>cgC	p.R273R	SGCE_ENST00000265735.7_Silent_p.R237R|SGCE_ENST00000445866.2_Silent_p.R237R|SGCE_ENST00000447873.1_Silent_p.R237R|SGCE_ENST00000428696.2_Silent_p.R237R|SGCE_ENST00000437425.2_Silent_p.R196R			O43556	SGCE_HUMAN	sarcoglycan, epsilon	237	Cys-rich.				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTTCAACTTCTCGTAAACAAG	0.338000													9	22					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116946596	116946596	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:116946596C>T	ENST00000537345.1	+	22	3405	c.3042C>T	c.(3040-3042)ggC>ggT	p.G1014G	ATP1A1_ENST00000369496.4_Splice_Site_p.G983G|ATP1A1_ENST00000295598.5_Splice_Site_p.G1014G	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	1014					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GACGCCCTGGCGGTAATTATG	0.493000													31	47					0	0	1	0	0
MAP10	54627	broad.mit.edu	37	1	232940900	232940900	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:232940900A>C	ENST00000418460.1	+	1	258	c.131A>C	c.(130-132)aAa>aCa	p.K44T		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		TGCAGTGATAAAACCATTACC	0.383000													105	126					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70983777	70983777	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:70983777A>C	ENST00000334414.6	-	8	2061	c.2017T>G	c.(2017-2019)Ttg>Gtg	p.L673V	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000551525.1_Missense_Mutation_p.L672V|PTPRB_ENST00000261266.5_Missense_Mutation_p.L455V|PTPRB_ENST00000538708.1_Missense_Mutation_p.L455V|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000550358.1_Missense_Mutation_p.L673V	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	455	Fibronectin type-III 8.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAATTCTTCAAATTTCCACTC	0.463000											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	78	77					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57858609	57858609	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:57858609C>A	ENST00000228682.2	+	4	438	c.347C>A	c.(346-348)tCt>tAt	p.S116Y	GLI1_ENST00000543426.1_5'UTR|GLI1_ENST00000546141.1_Missense_Mutation_p.S75Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	116					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGATGCACATCTCCAGGAGGC	0.582000													44	56					2.64894e-19	3.36353e-19	1	1	0
GAB4	128954	broad.mit.edu	37	22	17488849	17488849	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:17488849C>A	ENST00000400588.1	-	1	263	c.156G>T	c.(154-156)gaG>gaT	p.E52D	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	52	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCAGCTTCTTCTCGGGGGGCG	0.697000													11	9					9.31168e-06	9.8413e-06	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123151099	123151099	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:123151099G>A	ENST00000264501.4	+	26	3429	c.3056G>A	c.(3055-3057)cGa>cAa	p.R1019Q	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R1019Q|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R1019Q			Q2LD37	K1109_HUMAN	KIAA1109	1019					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGTGCAATTCGAGTTGCAAAC	0.338000													11	10					0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177538	89177538	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:89177538G>A	ENST00000561129.2	+	1	584	c.454G>A	c.(454-456)Gac>Aac	p.D152N	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.D152N			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CAGTGGTCCAGACAATGTACA	0.617000													47	2					0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48245364	48245364	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:48245364G>T	ENST00000262018.3	+	4	405	c.369G>T	c.(367-369)gaG>gaT	p.E123D	SGCA_ENST00000543315.1_Missense_Mutation_p.E123D|SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000451235.2_Missense_Mutation_p.E21D|SGCA_ENST00000344627.6_Missense_Mutation_p.E123D	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	123					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						TGGTGCTGGAGATTGGGGACC	0.592000													48	62					2.24722e-20	2.88573e-20	1	1	0
EXPH5	23086	broad.mit.edu	37	11	108381141	108381141	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:108381141C>T	ENST00000265843.4	-	6	5203	c.5093G>A	c.(5092-5094)cGa>cAa	p.R1698Q	EXPH5_ENST00000525344.1_Missense_Mutation_p.R1691Q|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1510Q|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1622Q	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1698					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ATTCTGATGTCGTTGTGAAAT	0.423000													10	156					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938902	2938902	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:2938902A>C	ENST00000378404.2	+	1	857	c.652A>C	c.(652-654)Aag>Cag	p.K218Q		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	218						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CGACATCAAAAAGAAGCTGTG	0.632000													35	46					0	0	1	0	0
ME2	4200	broad.mit.edu	37	18	48446835	48446835	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:48446835G>A	ENST00000321341.5	+	8	1016	c.744G>A	c.(742-744)cgG>cgA	p.R248R	ME2_ENST00000382927.3_Silent_p.R248R	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	248					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	GATATGGCCGGAACACACTCA	0.333000													13	22					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50248469	50248469	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:50248469G>A	ENST00000246801.3	-	7	1259	c.1177C>T	c.(1177-1179)Ctg>Ttg	p.L393L	TSKS_ENST00000358830.3_Silent_p.L193L	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	393							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ATGGTGCACAGCTCATCCGCC	0.662000													34	18					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64599969	64599969	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:64599969G>A	ENST00000342711.5	-	27	3017	c.3018C>T	c.(3016-3018)ttC>ttT	p.F1006F		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1006	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GGGTAGCCGAGAACTGGGGGT	0.607000													15	22					0	0	1	0	0
CD207	50489	broad.mit.edu	37	2	71061000	71061000	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:71061000C>T	ENST00000410009.3	-	3	387	c.342G>A	c.(340-342)gaG>gaA	p.E114E		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	114					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						AACCCAGGCTCTCATTCACCA	0.468000													12	27					0	0	1	0	0
MPZL1	9019	broad.mit.edu	37	1	167741609	167741609	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:167741609C>A	ENST00000359523.2	+	3	558	c.356C>A	c.(355-357)tCa>tAa	p.S119*	MPZL1_ENST00000392121.3_Intron|MPZL1_ENST00000474859.1_Nonsense_Mutation_p.S119*	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	119	Ig-like V-type.				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	p.S119L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					AAAGATGCATCAATCAACATA	0.433000													42	34					6.5261e-18	8.14312e-18	1	1	0
PRKRIR	5612	broad.mit.edu	37	11	76062087	76062087	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:76062087G>A	ENST00000260045.3	-	5	2212	c.2107C>T	c.(2107-2109)Cgt>Tgt	p.R703C		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	703					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						GCTTTAAGACGCTTTCGTCCA	0.368000													39	41					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75529199	75529199	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:75529199G>A	ENST00000339365.2	+	19	2681	c.2519G>A	c.(2518-2520)cGa>cAa	p.R840Q	SEC24C_ENST00000540668.1_Missense_Mutation_p.R88Q|SEC24C_ENST00000345254.4_Missense_Mutation_p.R840Q|SEC24C_ENST00000411652.2_Missense_Mutation_p.R721Q|SEC24C_ENST00000535742.1_Missense_Mutation_p.R88Q|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	840					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	p.R840Q(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GATCTATATCGAAACTGTGAG	0.572000													19	16					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124398310	124398310	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:124398310G>A	ENST00000291478.5	+	18	2395	c.2232G>A	c.(2230-2232)acG>acA	p.T744T	KALRN_ENST00000428018.2_Silent_p.T712T|KALRN_ENST00000462213.1_Silent_p.T58T|KALRN_ENST00000360013.3_Silent_p.T2441T	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCAAGGAGACGAACAGTTCCG	0.438000													47	63					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136913658	136913658	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:136913658C>T	ENST00000359015.4	-	22	3333	c.2973G>A	c.(2971-2973)ttG>ttA	p.L991L	MAP3K5_ENST00000355845.4_Silent_p.L238L	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	991					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GGTCCACTTTCAACTCCGTGT	0.502000													53	68					0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95165776	95165776	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:95165776A>G	ENST00000325885.5	+	4	1077	c.1006A>G	c.(1006-1008)Aaa>Gaa	p.K336E		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	336					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTCTTGTCCTAAAGCAATTGA	0.423000													16	17					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38891991	38891991	+	Silent	SNP	G	G	A	rs140270974		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:38891991G>A	ENST00000302328.3	-	25	4506	c.4308C>T	c.(4306-4308)gtC>gtT	p.V1436V	SCN11A_ENST00000456224.3_Silent_p.V1398V|SCN11A_ENST00000450244.1_Silent_p.V1436V|SCN11A_ENST00000444237.2_Silent_p.V1436V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1436					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)	AAAGAAGCACGACCACACAGT	0.358000													42	48					0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21300858	21300858	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:21300858G>A	ENST00000596143.1	+	5	1713	c.1388G>A	c.(1387-1389)cGa>cAa	p.R463Q	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GCTTTCAACCGATCCTCAAAC	0.373000													23	33					0	0	1	0	0
LACC1	144811	broad.mit.edu	37	13	44455474	44455474	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:44455474T>G	ENST00000441843.1	+	2	838	c.353T>G	c.(352-354)tTt>tGt	p.F118C	LACC1_ENST00000325686.6_Missense_Mutation_p.F118C	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	118																	ATGAAAGCTTTTATTGATCAA	0.338000													29	36					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89943439	89943439	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:89943439G>T	ENST00000405460.2	+	17	3243	c.3147G>T	c.(3145-3147)gaG>gaT	p.E1049D		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1049					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		CTGCAAGAGAGAGAGATTTCA	0.428000													41	70					4.01765e-15	4.83551e-15	1	1	0
TENM1	10178	broad.mit.edu	37	X	123516582	123516582	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:123516582A>C	ENST00000422452.2	-	31	7441	c.7378T>G	c.(7378-7380)Tta>Gta	p.L2460V	TENM1_ENST00000371130.3_Missense_Mutation_p.L2453V|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GTTAATTCTAAATTTTCTAAT	0.363000													82	6					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716760	142716760	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:142716760C>A	ENST00000381779.4	-	2	2390	c.2165G>T	c.(2164-2166)aGa>aTa	p.R722I	SLITRK4_ENST00000338017.4_Missense_Mutation_p.R722I|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R722I	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	722						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCACATTTCTCATAACAAC	0.423000													62	4					4.96213e-28	6.73703e-28	1	1	0
CPAMD8	27151	broad.mit.edu	37	19	17113151	17113151	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:17113151T>G	ENST00000443236.1	-	9	855	c.824A>C	c.(823-825)aAg>aCg	p.K275T	CPAMD8_ENST00000388925.4_Missense_Mutation_p.K228T	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	228						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGCTCAAACTTGGGCAACAC	0.602000													3	8					0	0	1	0	0
LINC00207	388910	broad.mit.edu	37	22	44966383	44966383	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:44966383C>A	ENST00000605505.1	+	0	161					NR_028409.1															lung(3)	3						AAAACAGGTTCTGTTTAAAGA	0.498000													5	13					0.000602214	0.000618688	1	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94539495	94539495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:94539495C>T	ENST00000289495.5	+	1	286	c.70C>T	c.(70-72)Cga>Tga	p.R24*	PPP1R9A_ENST00000424654.1_Nonsense_Mutation_p.R24*|PPP1R9A_ENST00000340694.4_Nonsense_Mutation_p.R24*|PPP1R9A_ENST00000433360.1_Nonsense_Mutation_p.R24*|PPP1R9A_ENST00000456331.2_Nonsense_Mutation_p.R24*|PPP1R9A_ENST00000433881.1_Nonsense_Mutation_p.R24*	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	24	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAATGCATATCGAACTGAGTT	0.468000										HNSCC(28;0.073)			16	23					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	960933	960933	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:960933G>T	ENST00000340908.4	+	1	75	c.75G>T	c.(73-75)aaG>aaT	p.K25N	WNK1_ENST00000530271.2_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000540360.1_Intron			Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCCCTCAAAAGGATTGTATAA	0.308000													5	8					1	1	1	1	0
RNF135	84282	broad.mit.edu	37	17	29311758	29311758	+	Missense_Mutation	SNP	G	G	A	rs140834126		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:29311758G>A	ENST00000328381.5	+	2	1369	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	RNF135_ENST00000324689.4_Missense_Mutation_p.E166K|RNF135_ENST00000443677.2_Intron|RNF135_ENST00000535306.2_Missense_Mutation_p.E166K	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	166					innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				ACCAGACAACGAACTGAGCAT	0.498000													70	89					0	0	1	0	0
TRAV24	28659	broad.mit.edu	37	14	22573869	22573869	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:22573869C>A	ENST00000390453.1	+	0	89																											GAACAAAGTCCTCAGTCACTG	0.443000													11	8					0.000673444	0.000691067	1	1	0
EIF4A1	1973	broad.mit.edu	37	17	7481193	7481193	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:7481193C>T	ENST00000293831.8	+	9	971	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	EIF4A1_ENST00000582746.1_Missense_Mutation_p.R319C|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Missense_Mutation_p.R319C|EIF4A1_ENST00000581808.1_3'UTR	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	319	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GAGGGAGTTTCGTTCTGGCTC	0.498000													29	27					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996153	57996153	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:57996153G>T	ENST00000316770.2	-	1	237	c.195C>A	c.(193-195)ttC>ttA	p.F65L		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGGACAGGAAGAAATACATCG	0.532000													42	58					2.95478e-19	3.74562e-19	1	1	0
KLF6	1316	broad.mit.edu	37	10	3824300	3824300	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:3824300G>A	ENST00000497571.1	-	2	469	c.209C>T	c.(208-210)gCt>gTt	p.A70V	KLF6_ENST00000542957.1_Missense_Mutation_p.A70V|KLF6_ENST00000469435.1_Missense_Mutation_p.A70V	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	70					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TTTCTCCCGAGCCAGAATGAT	0.483000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	74					0	0	1	0	0
KDM5D	8284	broad.mit.edu	37	Y	21867927	21867927	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrY:21867927A>C	ENST00000541639.1	-	28	4954	c.4667T>G	c.(4666-4668)tTa>tGa	p.L1556*	KDM5D_ENST00000382806.2_Nonsense_Mutation_p.L1468*|KDM5D_ENST00000317961.4_Nonsense_Mutation_p.L1525*	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1525					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	CAAAGGCATTAAAGAAGGACA	0.423000													18	1					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62895431	62895431	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:62895431G>A	ENST00000393630.3	+	7	1133	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	MON2_ENST00000549378.1_3'UTR|MON2_ENST00000393629.2_Missense_Mutation_p.E248K|MON2_ENST00000280379.6_Missense_Mutation_p.E248K|MON2_ENST00000552738.1_Missense_Mutation_p.E248K|MON2_ENST00000546600.1_Missense_Mutation_p.E248K|MON2_ENST00000393632.2_Missense_Mutation_p.E248K|MON2_ENST00000552115.1_Missense_Mutation_p.E248K	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	248					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GTTTGGCCTCGAATTACTTGA	0.383000													23	33					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166153631	166153631	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:166153631G>T	ENST00000375437.2	+	3	662	c.372G>T	c.(370-372)aaG>aaT	p.K124N	SCN2A_ENST00000375427.2_Missense_Mutation_p.K124N|SCN2A_ENST00000283256.6_Missense_Mutation_p.K124N|SCN2A_ENST00000357398.3_Missense_Mutation_p.K124N	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	124					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TAGCTATTAAGATTTTGGTAC	0.333000													9	10					0.000274275	0.000283032	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92733446	92733446	+	Silent	SNP	G	G	T	rs138252593		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:92733446G>T	ENST00000379958.2	-	3	2234	c.1965C>A	c.(1963-1965)atC>atA	p.I655I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	655						cytoplasm				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)			CATTTTCACAGATAATTTCCA	0.373000													30	44					3.69857e-22	4.81672e-22	1	1	0
MMRN2	79812	broad.mit.edu	37	10	88703289	88703289	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:88703289C>T	ENST00000372027.5	-	6	1573	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2							extracellular space		p.E418K(1)		breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCGTCCGATTCGGAGTACAGT	0.607000													76	63					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107097212	107097212	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:107097212A>G	ENST00000261058.1	+	1	1025	c.778A>G	c.(778-780)Aca>Gca	p.T260A		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	260										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AGGAAAATGGACATTTTTCCT	0.403000													54	52					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589666	140589666	+	Missense_Mutation	SNP	C	C	T	rs146148949	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140589666C>T	ENST00000239450.2	+	1	1376	c.1187C>T	c.(1186-1188)tCg>tTg	p.S396L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.S59L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		396	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAAAATCTTCGGTAAATAAT	0.493000													35	43					0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136620272	136620272	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:136620272G>A	ENST00000264156.2	-	8	1185	c.1125C>T	c.(1123-1125)ggC>ggT	p.G375G	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	375	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TCTTTGGAACGCCACCAAAGA	0.413000													40	55					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68396965	68396965	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:68396965G>T	ENST00000297770.4	-	7	911	c.696C>A	c.(694-696)ttC>ttA	p.F232L	CPA6_ENST00000297769.4_Missense_Mutation_p.F84L|CPA6_ENST00000518549.1_Missense_Mutation_p.F232L	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	232					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GCATGATATAGAAATATAGAT	0.358000													23	39					2.48779e-11	2.85137e-11	1	1	0
NCOR1	9611	broad.mit.edu	37	17	16062080	16062080	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:16062080C>T	ENST00000268712.3	-	6	983	c.726G>A	c.(724-726)gaG>gaA	p.E242E	NCOR1_ENST00000395851.1_Silent_p.E242E|NCOR1_ENST00000395848.1_Silent_p.E133E	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	242	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTACCCGATTCTCATCATAAA	0.458000													10	23					0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98078230	98078230	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:98078230G>A	ENST00000419175.1	+	2	495	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	DNTT_ENST00000371174.2_Missense_Mutation_p.E109K	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	109	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CTGGCTGATCGAATGCATAAG	0.473000													39	87					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52863953	52863953	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:52863953A>C	ENST00000343457.3	-	3	823	c.817T>G	c.(817-819)Tgg>Ggg	p.W273G		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	273						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTTTTCCTCCAGGATTCAGAA	0.373000													74	95					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6790110	6790110	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:6790110G>A	ENST00000338569.2	-	1	176	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTAGCATAGAGCAGTTCAGGA	0.502000													32	41					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71080029	71080029	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:71080029T>G	ENST00000396396.1	+	7	1293	c.1064T>G	c.(1063-1065)gTc>gGc	p.V355G	PGM5_ENST00000396392.1_Missense_Mutation_p.V355G	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	355					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TCAATGAAGGTCCCTGTATAT	0.403000													46	72					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881350	228881350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:228881350G>A	ENST00000392056.3	-	7	4266	c.4220C>T	c.(4219-4221)tCg>tTg	p.S1407L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1407L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1407						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTCCTGGCACGAGGAAGTTTC	0.448000													64	7					0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103338671	103338671	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:103338671C>A	ENST00000267273.6	-	4	510	c.505G>T	c.(505-507)Gaa>Taa	p.E169*		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	169							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						CATACCAGTTCTTTCACTTCA	0.423000													20	20					2.94398e-08	3.22984e-08	1	1	0
GLTSCR1	29998	broad.mit.edu	37	19	48205333	48205333	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:48205333G>A	ENST00000396720.3	+	15	4538	c.4344G>A	c.(4342-4344)ccG>ccA	p.P1448P	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1448							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		AGGGCCCCCCGCCAGAGCCCG	0.756000													3	4					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104709502	104709502	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:104709502G>A	ENST00000406091.3	+	2	365	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	153	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase 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)			TGTGGAGGTCGAGTGTCATTA	0.393000										HNSCC(12;0.0054)			39	60					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869318	52869318	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:52869318G>T	ENST00000601151.1	+	5	1010	c.558G>T	c.(556-558)gaG>gaT	p.E186D	ZNF610_ENST00000321287.8_Missense_Mutation_p.E229D|ZNF610_ENST00000403906.3_Missense_Mutation_p.E229D|ZNF610_ENST00000327920.8_Missense_Mutation_p.E229D	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ATACTGCAGAGAAACCTTACA	0.378000													20	22					1.96292e-10	2.21926e-10	1	1	0
PBRM1	55193	broad.mit.edu	37	3	52637690	52637690	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:52637690G>A	ENST00000356770.4	-	16	2532	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	PBRM1_ENST00000410007.1_Missense_Mutation_p.R876C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R876C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R876C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R891C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R876C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R891C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R876C			Q86U86	PB1_HUMAN	polybromo 1	876	Bromo 6.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGTTCATCACGAATTTTAATA	0.353000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								14	16					0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37619041	37619041	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:37619041G>T	ENST00000337995.3	+	5	1363	c.1148G>T	c.(1147-1149)aGa>aTa	p.R383I	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.R383I	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAACACCAGAGAATTCACACC	0.413000													47	58					5.7616e-29	7.85847e-29	1	1	0
AGBL5	60509	broad.mit.edu	37	2	27291605	27291605	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:27291605G>A	ENST00000360131.4	+	13	2507	c.2348G>A	c.(2347-2349)cGa>cAa	p.R783Q		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	783					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAAGACTCGATTGCAGGTA	0.527000													22	20					0	0	1	0	0
FBXW2	26190	broad.mit.edu	37	9	123550224	123550224	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:123550224A>C	ENST00000608872.1	-	3	500	c.313T>G	c.(313-315)Ttg>Gtg	p.L105V	FBXW2_ENST00000340778.5_Missense_Mutation_p.L105V	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2						proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TGCCAGCCCAAATTTTTACAT	0.453000													51	59					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26558959	26558959	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:26558959G>A	ENST00000256737.3	+	10	1835	c.983G>A	c.(982-984)cGt>cAt	p.R328H	ANO3_ENST00000531568.1_Missense_Mutation_p.R182H|ANO3_ENST00000537978.1_Missense_Mutation_p.R312H|ANO3_ENST00000525139.1_Missense_Mutation_p.R312H	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	328						chloride channel complex	chloride channel activity	p.R328H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GCAGGTATCCGTAAACTTATA	0.353000													44	51					0	0	1	0	0
HOXB4	3214	broad.mit.edu	37	17	46655715	46655715	+	Translation_Start_Site	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:46655715A>C	ENST00000332503.5	-	0	1758				HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000489475.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						AATATACTAAAATTTATTCCG	0.443000													5	16					0	0	1	0	0
RCE1	9986	broad.mit.edu	37	11	66611760	66611760	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:66611760C>T	ENST00000309657.3	+	4	420	c.376C>T	c.(376-378)Ctt>Ttt	p.L126F	RCE1_ENST00000534645.1_3'UTR|RCE1_ENST00000525356.1_Missense_Mutation_p.L3F|RCE1_ENST00000524506.1_Missense_Mutation_p.L126F	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	126					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCCTCAGATTCTTTTCCTGGG	0.522000													68	68					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104032039	104032039	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:104032039G>T	ENST00000265148.3	-	47	7759	c.7670C>A	c.(7669-7671)tCt>tAt	p.S2557Y	CENPE_ENST00000380026.3_Missense_Mutation_p.S2436Y	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2557	Globular autoinhibitory domain (By similarity).				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTTTAACTTAGAAATTTCTTT	0.328000													23	43					7.41877e-09	8.19551e-09	1	1	0
ASPM	259266	broad.mit.edu	37	1	197073369	197073369	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:197073369G>T	ENST00000367409.4	-	18	5268	c.5012C>A	c.(5011-5013)tCt>tAt	p.S1671Y	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1671	IQ 5.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCCTTTTTAGAAACATAAGC	0.333000													22	29					4.35082e-09	4.8279e-09	1	1	0
PLA2G4E	123745	broad.mit.edu	37	15	42281680	42281680	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:42281680G>A	ENST00000399518.3	-	15	2142	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.F523F	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	540	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		ACTCGGAGCCGAAGAGCTCGG	0.602000											OREG0023079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	27					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67283829	67283829	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:67283829G>T	ENST00000392676.3	-	15	2030	c.1966C>A	c.(1966-1968)Ctt>Att	p.L656I	ABCA5_ENST00000588877.1_Missense_Mutation_p.L656I|ABCA5_ENST00000392677.2_Missense_Mutation_p.L656I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	656	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TATTTTAAAAGATTCCATACA	0.413000													52	58					2.74695e-27	3.71343e-27	1	1	0
CUL3	8452	broad.mit.edu	37	2	225422513	225422513	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:225422513C>T	ENST00000264414.4	-	2	465	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	CUL3_ENST00000409777.1_Missense_Mutation_p.E19K|CUL3_ENST00000409096.1_Missense_Mutation_p.E19K|CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000344951.4_Intron	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	43					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CGCTGGATTTCTTGAATTGCA	0.343000													11	1					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141408808	141408808	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:141408808C>T	ENST00000397541.2	+	1	656	c.250C>T	c.(250-252)Cca>Tca	p.P84S	WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000465110.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	84					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TTTGAGGACTCCAGTGTCACA	0.517000													100	120					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32650179	32650179	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:32650179C>T	ENST00000266086.4	-	2	168	c.157G>A	c.(157-159)Ggt>Agt	p.G53S	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	53					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCTATAGTACCTCGGTTGGTC	0.552000													30	36					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103705043	103705043	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:103705043G>T	ENST00000245312.3	-	3	1108	c.512C>A	c.(511-513)tCt>tAt	p.S171Y		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	171			S -> A (in dbSNP:rs188096).		bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AACAACGAGAGAAACCAGAGA	0.398000													22	42					8.04996e-18	1.00352e-17	1	1	0
DICER1	23405	broad.mit.edu	37	14	95592923	95592923	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:95592923C>T	ENST00000526495.1	-	9	1188	c.897G>A	c.(895-897)tcG>tcA	p.S299S	DICER1_ENST00000541352.1_Silent_p.S299S|DICER1_ENST00000393063.1_Silent_p.S299S|DICER1_ENST00000343455.3_Silent_p.S299S|DICER1_ENST00000527414.1_Silent_p.S299S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	299	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTACCTGTTTCGAAATTAAAG	0.269000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				20	26					0	0	1	0	0
C4orf27	54969	broad.mit.edu	37	4	170653015	170653015	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:170653015C>A	ENST00000393381.2	-	7	824	c.749G>T	c.(748-750)aGa>aTa	p.R250I		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	250						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		CTTGCAAATTCTCTTGAGGTC	0.333000													19	17					2.94398e-08	3.22984e-08	1	1	0
FER	2241	broad.mit.edu	37	5	108133970	108133970	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:108133970G>T	ENST00000281092.4	+	3	471	c.87G>T	c.(85-87)aaG>aaT	p.K29N	FER_ENST00000536402.1_Missense_Mutation_p.K29N|FER_ENST00000438717.2_5'UTR|FER_ENST00000502752.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	29	FCH.|Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAACAGTAAAGAAATTTATGG	0.358000													32	48					8.88839e-20	1.13456e-19	1	1	0
NAV2	89797	broad.mit.edu	37	11	20122583	20122583	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:20122583C>A	ENST00000396085.1	+	33	6652	c.6291C>A	c.(6289-6291)atC>atA	p.I2097I	NAV2_ENST00000396087.3_Silent_p.I2153I|NAV2_ENST00000540292.1_Silent_p.I2084I|NAV2_ENST00000360655.4_Silent_p.I2030I|NAV2_ENST00000527559.2_Silent_p.I2082I|NAV2_ENST00000311043.8_Silent_p.I1158I|NAV2_ENST00000349880.4_Silent_p.I2094I|NAV2_ENST00000533917.1_Silent_p.I1158I	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2153						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCGTCGGATCATTCTCTCTG	0.572000													76	79					6.47592e-44	9.15834e-44	1	1	0
GRIK5	2901	broad.mit.edu	37	19	42566753	42566753	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:42566753C>T	ENST00000262895.3	-	4	394	c.395G>A	c.(394-396)cGc>cAc	p.R132H	GRIK5_ENST00000301218.4_Missense_Mutation_p.R132H|GRIK5_ENST00000593562.1_Missense_Mutation_p.R132H	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	132						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	AGACGCGAAGCGAAGGTACTG	0.607000													9	153					0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159840984	159840984	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:159840984A>C	ENST00000297151.4	-	4	714	c.327T>G	c.(325-327)aaT>aaG	p.N109K		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	109					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAATTATGGAATTCTATAAAT	0.308000													17	25					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141853	29141853	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:29141853G>A	ENST00000377167.2	+	1	543	c.441G>A	c.(439-441)gcG>gcA	p.A147A		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TGTTGGTTGCGGCTTCTTGGG	0.463000													125	133					0	0	1	0	0
OXNAD1	92106	broad.mit.edu	37	3	16344927	16344927	+	Missense_Mutation	SNP	C	C	T	rs145275971		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:16344927C>T	ENST00000285083.5	+	9	1262	c.797C>T	c.(796-798)aCg>aTg	p.T266M	OXNAD1_ENST00000435829.2_Missense_Mutation_p.T284M|OXNAD1_ENST00000544043.1_Missense_Mutation_p.T284M|OXNAD1_ENST00000605932.1_Missense_Mutation_p.T266M|OXNAD1_ENST00000606098.1_Missense_Mutation_p.T265M	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	266							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						GGAAGAATAACGGAGAAGGAG	0.383000													46	81					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206225010	206225010	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:206225010C>T	ENST00000367126.4	+	1	1035	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	190					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGGCAGACTTCGGCTTCCCTT	0.632000													42	45					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141336790	141336790	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:141336790A>C	ENST00000231484.3	-	1	1837	c.627T>G	c.(625-627)ttT>ttG	p.F209L		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	209	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGATCAAAAAATGAATGGA	0.493000													47	53					0	0	1	0	0
B3GAT2	135152	broad.mit.edu	37	6	71603909	71603909	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:71603909G>A	ENST00000230053.6	-	2	1266	c.658C>T	c.(658-660)Ccg>Tcg	p.P220S		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	220					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TCCACCAGCGGACGTTCGTAG	0.552000													36	49					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53630453	53630453	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:53630453G>A	ENST00000342160.3	-	26	3209	c.2752C>T	c.(2752-2754)Cgt>Tgt	p.R918C	HUWE1_ENST00000218328.8_Missense_Mutation_p.R918C|HUWE1_ENST00000262854.6_Missense_Mutation_p.R918C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	918					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAGATGGAACGAATTTCACTC	0.403000													27	1					0	0	1	0	0
CD99	4267	broad.mit.edu	37	X	2609847	2609847	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:2609847T>G	ENST00000381180.3	+	2	86	c.86T>G	c.(85-87)cTt>cGt	p.L29R	CD99_ENST00000381184.1_Intron|CD99_ENST00000482405.2_Intron|CD99_ENST00000381192.3_Intron|CD99_ENST00000381187.3_Intron			P14209	CD99_HUMAN	CD99 molecule	0					cell adhesion	cytoplasm|integral to plasma membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						GACCTGCGTCTTCAGGCCGCG	0.622000													6	9					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47542819	47542819	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:47542819G>A	ENST00000300527.4	+	21	1743	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	COL6A2_ENST00000357838.4_Missense_Mutation_p.E547K|COL6A2_ENST00000409416.1_Missense_Mutation_p.E547K|COL6A2_ENST00000310645.5_Missense_Mutation_p.E547K|COL6A2_ENST00000397763.1_Missense_Mutation_p.E547K	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	547	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTTGAAAGGAGAACCTGGGAG	0.592000													36	45					0	0	1	0	0
GAS7	8522	broad.mit.edu	37	17	9850237	9850237	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:9850237C>T	ENST00000323816.4	-	7	571	c.409G>A	c.(409-411)Gag>Aag	p.E137K	GAS7_ENST00000432992.2_Missense_Mutation_p.E197K|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000579158.1_Missense_Mutation_p.E133K|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.E57K|GAS7_ENST00000585266.1_Missense_Mutation_p.E137K|GAS7_ENST00000437099.2_Missense_Mutation_p.E133K|GAS7_ENST00000542249.1_Missense_Mutation_p.E133K|GAS7_ENST00000583882.1_Missense_Mutation_p.E57K			O60861	GAS7_HUMAN	growth arrest-specific 7	201					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TAGCTCCACTCGGTTGGTTTC	0.587000			T	MLL	AML*								18	25					0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72366742	72366742	+	Silent	SNP	C	C	T	rs150935108		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:72366742C>T	ENST00000335666.4	+	3	489	c.441C>T	c.(439-441)atC>atT	p.I147I		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	147						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGCCAGAGATCGCAGAGAGGT	0.652000													31	16					0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109779132	109779132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:109779132C>T	ENST00000369923.4	+	9	1230	c.1219C>T	c.(1219-1221)Cga>Tga	p.R407*	SARS_ENST00000468588.1_3'UTR|SARS_ENST00000234677.2_Nonsense_Mutation_p.R407*			P49591	SYSC_HUMAN	seryl-tRNA synthetase	407					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TCGCCGGCTTCGAATCCGATA	0.547000													33	42					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110171959	110171959	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:110171959T>G	ENST00000256578.3	+	14	2231	c.1871T>G	c.(1870-1872)tTt>tGt	p.F624C	AMPD2_ENST00000528454.1_Missense_Mutation_p.F506C|AMPD2_ENST00000528667.1_Missense_Mutation_p.F624C|AMPD2_ENST00000393688.3_Missense_Mutation_p.F505C|AMPD2_ENST00000342115.4_Missense_Mutation_p.F543C|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000358729.4_Missense_Mutation_p.F549C|AMPD2_ENST00000526301.1_3'UTR	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	624					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GTGGATGGTTTTGACAGCGTG	0.597000													87	87					0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112462303	112462303	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:112462303G>A	ENST00000297145.4	-	5	879	c.714C>T	c.(712-714)ttC>ttT	p.F238F		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	238										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CAACCACATGGAAAAGCTCTC	0.418000													18	23					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80831217	80831217	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:80831217A>C	ENST00000466387.1	+	20	2932	c.2208A>C	c.(2206-2208)aaA>aaC	p.K736N	AC008067.2_ENST00000596783.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.K736N|CTNNA2_ENST00000541047.1_Missense_Mutation_p.K736N|CTNNA2_ENST00000496558.1_Missense_Mutation_p.K736N|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000599412.2_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.K770N|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.K415N|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.K736N|AC008067.2_ENST00000430876.1_RNA			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	736					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCCCATTGAAAAATACATCTG	0.413000													27	28					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82785128	82785128	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:82785128C>T	ENST00000333891.9	-	2	1166	c.829G>A	c.(829-831)Gat>Aat	p.D277N	PCLO_ENST00000423517.2_Missense_Mutation_p.D277N	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.|Pro-rich.				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						CTGGATGCATCTCGTTGAAGT	0.473000													19	33					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117677889	117677889	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:117677889C>A	ENST00000368508.3	-	25	4242	c.4044G>T	c.(4042-4044)gaG>gaT	p.E1348D	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E1343D	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1348					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAATGGTTTCTCTAGGTTAG	0.413000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								36	46					5.8336e-16	7.11913e-16	1	1	0
NUDT16	131870	broad.mit.edu	37	3	131102021	131102021	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:131102021C>T	ENST00000359850.3	+	3	464	c.325C>T	c.(325-327)Cga>Tga	p.R109*	NUDT16_ENST00000521288.1_Nonsense_Mutation_p.R142*|NUDT16_ENST00000502852.1_3'UTR|NUDT16_ENST00000537561.1_Nonsense_Mutation_p.R96*	NM_152395.2	NP_689608.2	Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	142	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding			large_intestine(1)|lung(6)	7						GGGCCTGGTGCGAGTGCCCCT	0.567000													40	53					0	0	1	0	0
RP11-44F14.1	0	broad.mit.edu	37	16	53403416	53403416	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:53403416C>A	ENST00000565421.1	-	0	1201																											CAGAATTTTTCTTTACATTTA	0.323000													9	14					5.50884e-06	5.83488e-06	1	1	0
MYH4	4622	broad.mit.edu	37	17	10370008	10370008	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:10370008T>C	ENST00000255381.2	-	3	165	c.55A>G	c.(55-57)Aag>Gag	p.K19E	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	19	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						TTTTCAGACTTTCGGAGGAAA	0.478000													45	77					0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6470180	6470180	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:6470180G>A	ENST00000297056.6	-	6	1029	c.860C>T	c.(859-861)gCg>gTg	p.A287V	DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000428902.2_Missense_Mutation_p.A160V|DAGLB_ENST00000436575.1_Missense_Mutation_p.A246V	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	287					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CCCATAGGCCGCTGCTGCAAA	0.507000													19	17					0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683399	140683399	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140683399C>T	ENST00000239451.4	-	1	213	c.34G>A	c.(34-36)Gac>Aac	p.D12N		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	12					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GCTGTGAGGTCGATGGCGGCT	0.592000													16	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179537394	179537394	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179537394G>T	ENST00000589042.1	-	153	35047	c.34823C>A	c.(34822-34824)cCt>cAt	p.P11608H	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10307H|TTN_ENST00000591111.1_Missense_Mutation_p.P11234H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11440	Glu-rich.|Pro-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)			TTTCTGAACAGGAACAGGTAC	0.343000													7	14					2.7689e-08	3.04151e-08	1	1	0
BPIFB6	128859	broad.mit.edu	37	20	31629805	31629805	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:31629805C>T	ENST00000349552.1	+	12	1172	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	391						extracellular region	lipid binding	p.S391*(1)									AAGTCCTCATCGATTGGCAAC	0.602000													17	19					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62845404	62845404	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:62845404C>T	ENST00000512091.2	+	17	3472	c.2725C>T	c.(2725-2727)Cgt>Tgt	p.R909C	LPHN3_ENST00000504896.1_Missense_Mutation_p.R909C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R977C|LPHN3_ENST00000514996.1_Missense_Mutation_p.R909C|LPHN3_ENST00000509896.1_Missense_Mutation_p.R977C|LPHN3_ENST00000507164.1_Missense_Mutation_p.R977C|LPHN3_ENST00000514591.1_Missense_Mutation_p.R909C|LPHN3_ENST00000508946.1_Missense_Mutation_p.R909C|LPHN3_ENST00000545650.1_Missense_Mutation_p.R909C|LPHN3_ENST00000511324.1_Missense_Mutation_p.R977C|LPHN3_ENST00000514157.1_Missense_Mutation_p.R909C|LPHN3_ENST00000506700.1_Missense_Mutation_p.R909C|LPHN3_ENST00000507625.1_Missense_Mutation_p.R977C|LPHN3_ENST00000506720.1_Missense_Mutation_p.R977C|LPHN3_ENST00000506746.1_Missense_Mutation_p.R977C			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCAGAGTGACCGTAACACCAT	0.483000													78	88					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950439	27950439	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:27950439G>T	ENST00000379992.2	-	6	680	c.231C>A	c.(229-231)ttC>ttA	p.F77L	LINGO2_ENST00000308675.3_Missense_Mutation_p.F77L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	77						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GATATGATATGAATTCTTCAG	0.453000													70	103					2.23399e-28	3.03771e-28	1	1	0
ZNF860	344787	broad.mit.edu	37	3	32031053	32031053	+	Missense_Mutation	SNP	C	C	T	rs140232911	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:32031053C>T	ENST00000360311.4	+	2	1031	c.482C>T	c.(481-483)tCg>tTg	p.S161L		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AGCTTTCATTCGCATCTTCCT	0.413000													37	71					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61548504	61548504	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:61548504C>T	ENST00000278836.5	+	20	2655	c.2559C>T	c.(2557-2559)ccC>ccT	p.P853P	MYRF_ENST00000265460.5_Silent_p.P818P|MYRF_ENST00000389602.4_Silent_p.P244P|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		GCATACAGCCCTCTTTGCTGC	0.617000													29	35					0	0	1	0	0
PPP3CB	5532	broad.mit.edu	37	10	75230850	75230850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:75230850G>A	ENST00000360663.5	-	6	898	c.787C>T	c.(787-789)Cga>Tga	p.R263*	PPP3CB_ENST00000394822.2_Nonsense_Mutation_p.R281*|PPP3CB_ENST00000394829.2_Nonsense_Mutation_p.R263*|PPP3CB_ENST00000545874.1_Nonsense_Mutation_p.R177*|PPP3CB_ENST00000394828.2_Nonsense_Mutation_p.R263*|PPP3CB_ENST00000495897.1_5'UTR|PPP3CB_ENST00000342558.3_Nonsense_Mutation_p.R263*			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	263	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GAACATCCTCGAACTGTATTG	0.328000													13	15					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27326345	27326345	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:27326345T>C	ENST00000429845.2	-	22	2259	c.1897A>G	c.(1897-1899)Aaa>Gaa	p.K633E	NEK10_ENST00000357467.2_Missense_Mutation_p.K30E|NEK10_ENST00000341435.5_Missense_Mutation_p.K633E			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	633	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATAAATATTTTCCATAGTCTT	0.358000													4	49					0	0	1	0	0
RPL9	6133	broad.mit.edu	37	4	39456163	39456163	+	Nonstop_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:39456163T>G	ENST00000449470.2	-	6	1027	c.579A>C	c.(577-579)taA>taC	p.*193Y	RPL9_ENST00000295955.9_Nonstop_Mutation_p.*193Y	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9	0					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CTCTTAGATCTTATTCATCAG	0.328000													7	14					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70904961	70904961	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:70904961G>A	ENST00000264436.4	-	12	1876	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	ADD2_ENST00000413157.2_Missense_Mutation_p.R478C|ADD2_ENST00000407644.2_Missense_Mutation_p.R478C|ADD2_ENST00000355733.3_Missense_Mutation_p.R478C|ADD2_ENST00000430656.1_Missense_Mutation_p.R494C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTTTCGATGCGAATCGGCATG	0.517000													31	35					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651351	142651351	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:142651351G>A	ENST00000355265.2	-	8	1318	c.844C>T	c.(844-846)Ctg>Ttg	p.L282L	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	282					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AACTGGAACAGCCGTGAAGTG	0.567000													18	29					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363476	22363476	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:22363476C>T	ENST00000397121.2	-	3	1360	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GATTGAGGATCGATTAAAAGC	0.413000													7	104					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62378298	62378298	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:62378298G>A	ENST00000245663.4	-	5	1905	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	ZBTB46_ENST00000395104.1_Silent_p.F585F|ZBTB46_ENST00000302995.2_Silent_p.F585F	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AGAGCCAGGCGAAGTCCTTGT	0.726000													5	5					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46264067	46264067	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:46264067G>T	ENST00000372004.3	+	11	1330	c.1114G>T	c.(1114-1116)Gaa>Taa	p.E372*	NCOA3_ENST00000371998.3_Splice_Site_p.E372*|NCOA3_ENST00000371997.3_Splice_Site_p.E382*|NCOA3_ENST00000341724.6_Splice_Site_p.E382*	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	372					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTTTTGCAGAGAACAGAATGG	0.368000													31	37					5.8336e-16	7.11913e-16	1	1	0
TRAV12-2	28673	broad.mit.edu	37	14	22356592	22356592	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:22356592G>T	ENST00000390437.2	+	0	355																											AAGGTTTACAGCACAGCTCAA	0.468000													119	132					1.39691e-52	1.9935e-52	1	1	0
TTLL9	164395	broad.mit.edu	37	20	30510837	30510837	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:30510837A>C	ENST00000375938.4	+	8	898	c.645A>C	c.(643-645)gaA>gaC	p.E215D	TTLL9_ENST00000535842.1_Missense_Mutation_p.E215D|TTLL9_ENST00000375921.2_Missense_Mutation_p.E142D|TTLL9_ENST00000375934.4_Missense_Mutation_p.E197D|TTLL9_ENST00000310998.4_Missense_Mutation_p.E165D|TTLL9_ENST00000375922.4_Missense_Mutation_p.E142D			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	215	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTTACATTGAAAATCCTTACC	0.438000													26	45					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17981150	17981150	+	Missense_Mutation	SNP	G	G	T	rs140932718		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:17981150G>T	ENST00000361221.3	+	23	2573	c.2414G>T	c.(2413-2415)aGt>aTt	p.S805I	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S766I|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S578I|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S800I|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S766I|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S508I	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	805					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTGGTCCACAGTCCTGTCAAC	0.582000													128	159					3.27654e-53	4.67964e-53	1	1	0
MUC16	94025	broad.mit.edu	37	19	9048767	9048767	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9048767G>T	ENST00000397910.4	-	5	33067	c.32864C>A	c.(32863-32865)tCt>tAt	p.S10955Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10957	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						TTCACCAAGAGAAAAAGTCAG	0.498000													43	102					7.63091e-17	9.4094e-17	1	1	0
DET1	55070	broad.mit.edu	37	15	89074905	89074905	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:89074905C>T	ENST00000564406.1	-	3	225	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	DET1_ENST00000268148.8_Missense_Mutation_p.R11Q|DET1_ENST00000558413.1_Missense_Mutation_p.R11Q|DET1_ENST00000444300.1_Missense_Mutation_p.R22Q	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	11						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TTGGATTCTTCGAGGCTTGAT	0.428000													32	40					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12904545	12904545	+	Silent	SNP	C	C	T	rs147254880		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:12904545C>T	ENST00000380659.3	+	3	1057	c.918C>T	c.(916-918)ccC>ccT	p.P306P		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	306					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AGCATGTGCCCCCAAGATGGT	0.403000													65	5					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102694	168102694	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:168102694G>T	ENST00000409195.1	+	9	4881	c.4792G>T	c.(4792-4794)Gaa>Taa	p.E1598*	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E1376*|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E1598*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1423					actin cytoskeleton organization	cell junction	actin binding			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						GATACAGAAAGAAGAAATTAT	0.393000													23	21					1.10923e-09	1.24224e-09	1	1	0
SH3GL3	6457	broad.mit.edu	37	15	84237317	84237317	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:84237317C>T	ENST00000324537.5	+	7	740	c.248C>T	c.(247-249)tCg>tTg	p.S83L	SH3GL3_ENST00000535412.1_Missense_Mutation_p.S75L|SH3GL3_ENST00000427482.2_Missense_Mutation_p.S75L|SH3GL3_ENST00000434347.1_Missense_Mutation_p.S83L			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	75	BAR.|Required for dimerization upon membrane association (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.S83L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AACACTGTGTCGAAGATCCGA	0.473000													39	53					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62758519	62758519	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:62758519C>T	ENST00000512091.2	+	9	2169	c.1422C>T	c.(1420-1422)gtC>gtT	p.V474V	LPHN3_ENST00000504896.1_Silent_p.V474V|LPHN3_ENST00000508693.1_Silent_p.V542V|LPHN3_ENST00000514996.1_Silent_p.V474V|LPHN3_ENST00000509896.1_Silent_p.V542V|LPHN3_ENST00000507164.1_Silent_p.V542V|LPHN3_ENST00000514591.1_Silent_p.V474V|LPHN3_ENST00000508946.1_Silent_p.V474V|LPHN3_ENST00000545650.1_Silent_p.V474V|LPHN3_ENST00000511324.1_Silent_p.V542V|LPHN3_ENST00000514157.1_Silent_p.V474V|LPHN3_ENST00000506700.1_Silent_p.V474V|LPHN3_ENST00000507625.1_Silent_p.V542V|LPHN3_ENST00000506720.1_Silent_p.V542V|LPHN3_ENST00000506746.1_Silent_p.V542V			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTCCAGCTGTCGAGGTACTTG	0.537000													34	42					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21342377	21342377	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:21342377G>A	ENST00000215739.8	+	5	838	c.479G>A	c.(478-480)gGc>gAc	p.G160D	LZTR1_ENST00000389355.3_Missense_Mutation_p.G141D|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	160					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TTTGCAACTGGCCAGTGGACG	0.473000													46	55					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50791223	50791223	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:50791223C>T	ENST00000263046.4	+	3	378	c.212C>T	c.(211-213)tCg>tTg	p.S71L	TFAP2B_ENST00000393655.3_Missense_Mutation_p.S62L|TFAP2B_ENST00000489228.1_3'UTR			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	62	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CACACCCCGTCGTCGGACTTC	0.697000													14	16					0	0	1	0	0
C3orf62	375341	broad.mit.edu	37	3	49308834	49308834	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:49308834C>A	ENST00000343010.3	-	3	1619	c.583G>T	c.(583-585)Gaa>Taa	p.E195*		NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	195										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTTTCAAATTCTATTTTTCCA	0.418000													46	45					1.23713e-20	1.59362e-20	1	1	0
CELSR1	9620	broad.mit.edu	37	22	46762916	46762916	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:46762916C>T	ENST00000262738.3	-	29	8178	c.8179G>A	c.(8179-8181)Gcc>Acc	p.A2727T		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2727					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGGTGGTGGCGGAGTCCTCC	0.711000											OREG0026655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	13					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10418205	10418205	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:10418205C>A	ENST00000226207.5	-	6	607	c.513G>T	c.(511-513)gaG>gaT	p.E171D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	171	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.E171D(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TAGACTGATTCTCCCGATCTA	0.323000													47	53					4.78724e-31	6.57321e-31	1	1	0
C7orf63	79846	broad.mit.edu	37	7	89894677	89894677	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:89894677C>A	ENST00000389297.4	+	5	670	c.419C>A	c.(418-420)tCa>tAa	p.S140*	C7orf63_ENST00000316089.8_Nonsense_Mutation_p.S140*|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Nonsense_Mutation_p.S140*	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	140							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ACTGCTAATTCAATTGCACTT	0.338000													35	59					1.47244e-24	1.95143e-24	1	1	0
HLA-DPA1	3113	broad.mit.edu	37	6	33041301	33041301	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:33041301C>A	ENST00000419277.1	-	2	176	c.47G>T	c.(46-48)aGa>aTa	p.R16I	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.R16I|HLA-DPA1_ENST00000463066.1_5'UTR	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	16					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						GGAGAGGGCTCTCAAGATCAC	0.552000													86	112					9.01214e-43	1.27215e-42	1	1	0
EML4	27436	broad.mit.edu	37	2	42488301	42488301	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:42488301G>T	ENST00000318522.5	+	4	641	c.379G>T	c.(379-381)Gaa>Taa	p.E127*	EML4_ENST00000402711.2_Intron|EML4_ENST00000401738.3_Nonsense_Mutation_p.E127*	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	127					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						aggacagagagaaaaaaaaga	0.343000			T	ALK	NSCLC								21	32					4.96729e-08	5.42951e-08	1	1	0
HERC2	8924	broad.mit.edu	37	15	28478351	28478351	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:28478351G>T	ENST00000261609.7	-	30	4724	c.4616C>A	c.(4615-4617)tCt>tAt	p.S1539Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1539					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGGCAAAGAACTTAACAA	0.378000													24	33					1.77063e-15	2.14316e-15	1	1	0
SLFN12	55106	broad.mit.edu	37	17	33750021	33750021	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:33750021C>T	ENST00000394562.1	-	4	550	c.27G>A	c.(25-27)acG>acA	p.T9T	SLFN12_ENST00000304905.5_Silent_p.T9T|SLFN12_ENST00000452764.3_Silent_p.T9T			Q8IYM2	SLN12_HUMAN	schlafen family member 12	9							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGGCATAATTCGTTTCCAAAT	0.383000													62	100					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96237101	96237101	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:96237101T>G	ENST00000347108.3	-	20	2845	c.2413A>C	c.(2413-2415)Aaa>Caa	p.K805Q	DZIP1_ENST00000376829.2_Missense_Mutation_p.K805Q|DZIP1_ENST00000361156.3_Missense_Mutation_p.K786Q|DZIP1_ENST00000361396.2_Missense_Mutation_p.K786Q			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	805					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CCAGATTTTTTTCCCAAAGAT	0.433000													31	43					0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35929105	35929105	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:35929105G>A	ENST00000374694.1	-	1	1257	c.1253C>T	c.(1252-1254)tCg>tTg	p.S418L		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	418					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CCATGTGAGCGACAAGATCAC	0.637000													23	34					0	0	1	0	0
ZFY	7544	broad.mit.edu	37	Y	2829685	2829685	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrY:2829685C>T	ENST00000155093.3	+	3	953	c.632C>T	c.(631-633)tCg>tTg	p.S211L	ZFY_ENST00000383052.1_Missense_Mutation_p.S211L|ZFY_ENST00000431102.1_Intron|ZFY_ENST00000449237.1_Missense_Mutation_p.S185L	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S211L(1)		biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						CTAATGATTTCGTGTAAGTCA	0.398000													44	8					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34649136	34649136	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:34649136C>A	ENST00000537011.1	+	8	3309	c.2927C>A	c.(2926-2928)cCt>cAt	p.P976H	NUTM1_ENST00000438749.3_Missense_Mutation_p.P966H|NUTM1_ENST00000333756.4_Missense_Mutation_p.P948H	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		AACCTTGCTCCTTTACAAGAG	0.512000													24	37					2.98393e-07	3.23441e-07	1	1	0
ZDBF2	57683	broad.mit.edu	37	2	207172181	207172181	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:207172181G>T	ENST00000374423.3	+	5	3315	c.2929G>T	c.(2929-2931)Gaa>Taa	p.E977*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	977							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATTGTCAAAGAAACATGGCT	0.383000													35	11					1.90571e-15	2.30404e-15	1	1	0
APC	324	broad.mit.edu	37	5	112176390	112176390	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:112176390C>T	ENST00000457016.1	+	16	5479	c.5099C>T	c.(5098-5100)gCt>gTt	p.A1700V	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.A1700V|APC_ENST00000257430.4_Missense_Mutation_p.A1700V			P25054	APC_HUMAN	adenomatous polyposis coli	1700	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACAGATGAGGCTCAAGGAGGA	0.433000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			18	33					0	0	1	0	0
TBKBP1	9755	broad.mit.edu	37	17	45776733	45776733	+	Missense_Mutation	SNP	C	C	T	rs138749463	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:45776733C>T	ENST00000361722.3	+	5	1531	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	228					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GGAGCGGCGGCGGCTAGAAGA	0.711000											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	15					0	0	1	0	0
CSK	1445	broad.mit.edu	37	15	75094078	75094078	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:75094078C>T	ENST00000220003.9	+	11	1659	c.930C>T	c.(928-930)ttC>ttT	p.F310F	CSK_ENST00000309470.9_Silent_p.F310F|CSK_ENST00000439220.2_Silent_p.F310F|CSK_ENST00000567571.1_Silent_p.F310F	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	310	Protein kinase.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GCAACAATTTCGTGCATCGAG	0.612000													19	36					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438564	23438564	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:23438564C>T	ENST00000248996.4	+	2	1348	c.682C>T	c.(682-684)Ctc>Ttc	p.L228F	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	228						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CTGTGTGGAGCTCAGCGGCTA	0.572000													174	228					0	0	1	0	0
SERTM1	400120	broad.mit.edu	37	13	37269425	37269425	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:37269425C>A	ENST00000315190.3	+	2	656	c.210C>A	c.(208-210)atC>atA	p.I70I		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	70						integral to membrane											AAAATATCATCTCCTCCAGTT	0.448000													70	76					1.43987e-31	1.98112e-31	1	1	0
SAYSD1	55776	broad.mit.edu	37	6	39073395	39073395	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:39073395C>T	ENST00000229903.4	-	2	464	c.365G>A	c.(364-366)gGc>gAc	p.G122D	SAYSD1_ENST00000373249.1_Missense_Mutation_p.G55D	NM_018322.1	NP_060792.1	Q9NPB0	CF064_HUMAN	SAYSVFN motif domain containing 1	122						integral to membrane											ATATGCCAGGCCAAATTCCAG	0.512000													81	141					0	0	1	0	0
REEP3	221035	broad.mit.edu	37	10	65354541	65354541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:65354541C>T	ENST00000373758.4	+	3	292	c.109C>T	c.(109-111)Cga>Tga	p.R37*	REEP3_ENST00000298249.4_Nonsense_Mutation_p.R22*	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	37						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTCCAGGTTCGATGGATGAT	0.323000													16	32					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8553380	8553380	+	Nonsense_Mutation	SNP	G	G	A	rs137852516		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:8553380G>A	ENST00000262648.3	-	6	933	c.784C>T	c.(784-786)Cga>Tga	p.R262*		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	262	Fibronectin type-III 1.		R -> P (in KAL1).		axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GCAGCCACTCGAAACTGGTAC	0.512000													33	0					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20109097	20109097	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:20109097G>A	ENST00000395530.2	+	2	1700	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	SPECC1_ENST00000261503.5_Missense_Mutation_p.E579K|SPECC1_ENST00000395522.2_Missense_Mutation_p.E498K|SPECC1_ENST00000395525.3_Missense_Mutation_p.E498K|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395529.3_Missense_Mutation_p.E579K|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395527.4_Missense_Mutation_p.E579K|AC004702.2_ENST00000580225.1_lincRNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	579						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGAGAGCTGCGAAGTTCAAGA	0.463000													46	56					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78868297	78868297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:78868297C>A	ENST00000286627.5	-	9	2117	c.1165G>T	c.(1165-1167)Gag>Tag	p.E389*	KCNMA1_ENST00000406533.3_Nonsense_Mutation_p.E389*|KCNMA1_ENST00000404771.3_Nonsense_Mutation_p.E389*|KCNMA1_ENST00000404857.1_Nonsense_Mutation_p.E389*|KCNMA1_ENST00000286628.8_Nonsense_Mutation_p.E389*|KCNMA1_ENST00000372443.1_Nonsense_Mutation_p.E389*|KCNMA1_ENST00000354353.5_Nonsense_Mutation_p.E389*|KCNMA1_ENST00000372440.1_Nonsense_Mutation_p.E389*	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	389					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CCTATTAACTCTATGATTTCA	0.473000													38	49					4.67007e-22	6.07302e-22	1	1	0
PPCS	79717	broad.mit.edu	37	1	42922602	42922602	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:42922602G>A	ENST00000372561.3	+	1	373	c.366G>A	c.(364-366)gaG>gaA	p.E122E	PPCS_ENST00000372560.3_Silent_p.E122E|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000372556.3_Intron|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000472013.1_3'UTR	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	122					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGCCGAGGAGAATGCACTTC	0.632000													50	65					0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118310642	118310642	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:118310642C>A	ENST00000369221.2	+	5	385	c.357C>A	c.(355-357)atC>atA	p.I119I	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	119					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGAACTGTATCTGTGTGGACT	0.418000													10	19					0.0931896	0.0937698	1	1	0
LRP5L	91355	broad.mit.edu	37	22	25756051	25756051	+	Silent	SNP	G	G	A	rs145836771		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:25756051G>A	ENST00000444995.3	-	4	709	c.9C>T	c.(7-9)ggC>ggT	p.G3G	LRP5L_ENST00000402859.2_Silent_p.G3G|LRP5L_ENST00000402785.2_Silent_p.G3G			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	3										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						AGTAGACGTGGCCCTCCATTG	0.602000													25	31					0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78447143	78447143	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:78447143C>T	ENST00000306773.4	-	3	911	c.754G>A	c.(754-756)Gcc>Acc	p.A252T		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	252	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			ACAGTGAAGGCGTACATCTCT	0.582000													81	97					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237538066	237538066	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:237538066T>G	ENST00000366574.2	+	7	751	c.434T>G	c.(433-435)tTt>tGt	p.F145C	RYR2_ENST00000542537.1_Missense_Mutation_p.F129C|RYR2_ENST00000360064.6_Missense_Mutation_p.F143C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	145	MIR 1.				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)			AAGCTGGCTTTTGATGTTGGC	0.498000													16	9					0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116739821	116739821	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:116739821A>C	ENST00000265437.5	+	2	371	c.157A>C	c.(157-159)Atg>Ctg	p.M53L	ST7_ENST00000487459.1_3'UTR|ST7_ENST00000422922.1_Missense_Mutation_p.M7L|ST7_ENST00000393446.2_Missense_Mutation_p.M53L|ST7_ENST00000393449.1_Missense_Mutation_p.M53L|ST7_ENST00000432298.1_Missense_Mutation_p.M7L|ST7_ENST00000393451.3_Missense_Mutation_p.M53L|ST7_ENST00000393443.1_Missense_Mutation_p.M3L|ST7_ENST00000465133.1_Missense_Mutation_p.M10L|ST7_ENST00000393447.4_Missense_Mutation_p.M10L|ST7_ENST00000393444.3_Missense_Mutation_p.M10L|ST7_ENST00000323984.3_Missense_Mutation_p.M53L|ST7-AS2_ENST00000432541.1_RNA	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	53						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TTCAGTGAGCATGTTTTTGAA	0.393000													7	7					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420032	49420032	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:49420032C>T	ENST00000301067.7	-	48	15716	c.15717G>A	c.(15715-15717)ccG>ccA	p.P5239P		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTACAAACTCCGGCCGCCCGT	0.572000													43	33					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046447	42046447	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:42046447A>C	ENST00000372584.1	-	3	5036	c.4022T>G	c.(4021-4023)aTc>aGc	p.I1341S	HIVEP3_ENST00000429157.2_Missense_Mutation_p.I1341S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.I1341S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.I1341S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1341					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGTGACCAAGATCTGGGAAAG	0.557000													49	46					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775827	38775827	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:38775827G>A	ENST00000308973.4	-	4	1990	c.1385C>T	c.(1384-1386)aCt>aTt	p.T462I	TLR10_ENST00000506111.1_Missense_Mutation_p.T462I|TLR10_ENST00000361424.2_Missense_Mutation_p.T462I|TLR10_ENST00000508334.1_Missense_Mutation_p.T462I	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	462					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CAGATGAATAGTCTCTTTAGG	0.343000													58	60					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183212027	183212027	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:183212027G>A	ENST00000341319.3	-	5	1225	c.1190C>T	c.(1189-1191)tCg>tTg	p.S397L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	397										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CTTGTTGATCGAAGAATTATA	0.418000													56	60					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553778	140553778	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140553778C>A	ENST00000231137.3	+	1	1536	c.1362C>A	c.(1360-1362)acC>acA	p.T454T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		454					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACCCAAACCTCCTACACCC	0.602000													108	142					3.79682e-32	5.23216e-32	1	1	0
SNRNP200	23020	broad.mit.edu	37	2	96964670	96964670	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:96964670C>A	ENST00000323853.5	-	7	842	c.765G>T	c.(763-765)aaG>aaT	p.K255N	SNRNP200_ENST00000349783.5_Missense_Mutation_p.K255N	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	255						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCAAATCCTTCTTCTTGGAAC	0.502000													44	55					2.68985e-26	3.60155e-26	1	1	0
RBM27	54439	broad.mit.edu	37	5	145665548	145665548	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:145665548C>T	ENST00000265271.5	+	21	3304	c.3138C>T	c.(3136-3138)gaC>gaT	p.D1046D	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1046					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGATGATGACGATGAAGATG	0.338000													20	33					0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884368	53884368	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:53884368G>T	ENST00000467003.1	+	4	629	c.428G>T	c.(427-429)aGa>aTa	p.R143I	ZNF525_ENST00000474037.1_Missense_Mutation_p.R179I|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						ACAGCCCAAAGAATTTCTTGT	0.378000													50	69					4.44712e-29	6.06871e-29	1	1	0
TMEM38A	79041	broad.mit.edu	37	19	16790803	16790803	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:16790803G>A	ENST00000187762.2	+	2	224	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	45						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						AGGAGCAGTCGAACTGTCCCG	0.607000													15	23					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48602392	48602392	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:48602392T>C	ENST00000328333.8	-	117	8749	c.8642A>G	c.(8641-8643)gAt>gGt	p.D2881G	COL7A1_ENST00000454817.1_Missense_Mutation_p.D2849G|COL7A1_ENST00000470076.1_5'UTR	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2881	BPTI/Kunitz inhibitor.|Nonhelical region (NC2).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGAGCCCTCATCCAGTGGCAG	0.612000													31	52					0	0	1	0	0
MRPL24	79590	broad.mit.edu	37	1	156707480	156707480	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:156707480C>T	ENST00000361531.2	-	5	608	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	MRPL24_ENST00000478899.1_5'UTR|MRPL24_ENST00000368211.4_Missense_Mutation_p.E158K			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	158					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGGGAAATTCGGGTTTAGGG	0.537000													38	58					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100796512	100796512	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:100796512G>T	ENST00000323346.5	+	8	1355	c.1042G>T	c.(1042-1044)Gca>Tca	p.A348S	SLC17A8_ENST00000392989.3_Intron	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	348					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						CTTTGGATTTGCAATAAGTAA	0.333000													11	13					1.58986e-06	1.70119e-06	1	1	0
GLI2	2736	broad.mit.edu	37	2	121747326	121747326	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:121747326A>G	ENST00000452319.1	+	14	3896	c.3836A>G	c.(3835-3837)cAt>cGt	p.H1279R	GLI2_ENST00000361492.4_Missense_Mutation_p.H1279R|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1279					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)				AAGCCAGGGCATCTGGGGCAC	0.637000													29	32					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321122	79321122	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:79321122G>T	ENST00000428286.1	-	8	6191	c.4991C>A	c.(4990-4992)tCt>tAt	p.S1664Y	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2023Y			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2023					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTGGGTGGGAGAACTGACAGC	0.443000													26	28					2.50493e-22	3.26941e-22	1	1	0
GABRA3	2556	broad.mit.edu	37	X	151366205	151366205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:151366205G>T	ENST00000370314.4	-	8	1069	c.831C>A	c.(829-831)taC>taA	p.Y277*	GABRA3_ENST00000535043.1_Nonsense_Mutation_p.Y277*	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	277					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGATCACAAAGTAGCCAATTT	0.428000													34	3					1.22384e-17	1.52209e-17	1	1	0
PRND	23627	broad.mit.edu	37	20	4705564	4705564	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:4705564C>T	ENST00000305817.2	+	2	438	c.367C>T	c.(367-369)Cca>Tca	p.P123S		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	123	Globular.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GTTCCAGAAGCCAGACAACAA	0.602000													31	35					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179397771	179397771	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179397771C>T	ENST00000589042.1	-	358	103795	c.103571G>A	c.(103570-103572)aGa>aAa	p.R34524K	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25459K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25651K|TTN_ENST00000359218.5_Missense_Mutation_p.R25584K|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31956K|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32883K|TTN-AS1_ENST00000431259.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32883							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)			TATCTCAAGTCTGAATTCCCC	0.448000													93	148					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51738435	51738435	+	Missense_Mutation	SNP	G	G	T	rs1051198		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:51738435G>T	ENST00000436584.2	+	4	443	c.388G>T	c.(388-390)Gtg>Ttg	p.V130L	CD33_ENST00000391796.3_Missense_Mutation_p.V257L|CD33_ENST00000421133.2_Missense_Mutation_p.V130L|CD33_ENST00000262262.4_Missense_Mutation_p.V257L			P20138	CD33_HUMAN	CD33 molecule	257	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.V257L(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CAGAGCAGGAGTGGTTCATGG	0.483000													25	30					2.50493e-22	3.26941e-22	1	1	0
TOM1	10043	broad.mit.edu	37	22	35734743	35734743	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:35734743G>A	ENST00000411850.1	+	12	1311	c.1186G>A	c.(1186-1188)Gct>Act	p.A396T	TOM1_ENST00000449058.2_Missense_Mutation_p.A396T|TOM1_ENST00000425375.1_Missense_Mutation_p.A351T|TOM1_ENST00000436462.2_Missense_Mutation_p.A358T|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000447733.1_Missense_Mutation_p.A363T	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	396					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						AGACGGCCTGGCTGGAGCCCT	0.622000													7	5					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080099	29080099	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:29080099C>T	ENST00000377169.1	+	1	432	c.432C>T	c.(430-432)tgC>tgT	p.C144C		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTCGTTTCTGCCACCTGCTGG	0.517000													142	201					0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5717741	5717741	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:5717741G>T	ENST00000379965.3	+	2	556	c.279G>T	c.(277-279)aaG>aaT	p.K93N	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	93					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AGGGGCAGAAGAGAGATGTCT	0.493000													36	50					3.66082e-28	4.97278e-28	1	1	0
BCKDHB	594	broad.mit.edu	37	6	80838935	80838935	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:80838935G>A	ENST00000545529.1	+	3	360	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	BCKDHB_ENST00000356489.5_Missense_Mutation_p.R111Q|BCKDHB_ENST00000486968.1_3'UTR|BCKDHB_ENST00000369760.4_Missense_Mutation_p.R111Q|BCKDHB_ENST00000320393.6_Missense_Mutation_p.R111Q			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	111					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GTTGGCTTGCGAGACAAATAT	0.274000													34	37					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123019096	123019096	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:123019096A>C	ENST00000462833.1	-	15	3983	c.2771T>G	c.(2770-2772)tTc>tGc	p.F924C	ADCY5_ENST00000309879.5_Missense_Mutation_p.F574C|ADCY5_ENST00000491190.1_Missense_Mutation_p.F557C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	924					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GATCTGCAGGAACACGGAGCA	0.642000													23	22					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100200243	100200243	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:100200243C>T	ENST00000547776.2	-	4	607	c.608G>A	c.(607-609)cGc>cAc	p.R203H	ANKS1B_ENST00000329257.7_Missense_Mutation_p.R203H|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	203						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTGGCCATTGCGCGCAGCAAG	0.498000													31	31					0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11977098	11977098	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:11977098C>A	ENST00000304030.2	+	1	327	c.127C>A	c.(127-129)Ctc>Atc	p.L43I	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CCAGAAGAATCTCTACAGGGA	0.448000													70	100					1.21705e-43	1.7198e-43	1	1	0
ZNF564	163050	broad.mit.edu	37	19	12637435	12637435	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:12637435T>G	ENST00000339282.7	-	4	1683	c.1487A>C	c.(1486-1488)gAa>gCa	p.E496A	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						ATGAGTTCTTTCATGTATTCT	0.368000													37	39					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145631373	145631373	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:145631373G>A	ENST00000265271.5	+	9	1545	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	460					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGCCACCTCGAAACCTCATG	0.562000													92	91					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64637085	64637085	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:64637085C>T	ENST00000357395.3	+	95	17439	c.6295C>T	c.(6295-6297)Cgc>Tgc	p.R2099C	SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R2099C|SYNE2_ENST00000555002.1_Missense_Mutation_p.R2348C|SYNE2_ENST00000344113.4_Missense_Mutation_p.R5714C|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5714C			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5714					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAACTTGTTTCGCTTCCTCAC	0.542000													31	32					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179460779	179460779	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:179460779G>T	ENST00000367618.3	+	19	2585	c.2198G>T	c.(2197-2199)aGt>aTt	p.S733I	AXDND1_ENST00000457238.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	733										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GAGGAGGAAAGTGCTGAGAAA	0.418000													47	69					1.48734e-19	1.89397e-19	1	1	0
WNK1	65125	broad.mit.edu	37	12	1005583	1005583	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:1005583C>T	ENST00000537687.1	+	24	7353	c.6710C>T	c.(6709-6711)gCa>gTa	p.A2237V	WNK1_ENST00000530271.2_Missense_Mutation_p.A2475V|WNK1_ENST00000535572.1_Missense_Mutation_p.A1729V|WNK1_ENST00000315939.6_Missense_Mutation_p.A1977V|WNK1_ENST00000340908.4_Missense_Mutation_p.A1570V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1977					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGACCAGTGGCATCTCCTCCT	0.448000													65	95					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29667535	29667535	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:29667535T>C	ENST00000256062.5	-	16	2459	c.1986A>G	c.(1984-1986)gcA>gcG	p.A662A	TMTC1_ENST00000539277.1_Silent_p.A770A|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Silent_p.A832A|TMTC1_ENST00000552618.1_Silent_p.A794A	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	770						integral to membrane	binding	p.A662A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TAGCATCAAGTGCCTGCAGAG	0.358000													21	34					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46107841	46107841	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:46107841C>T	ENST00000321037.4	+	2	751	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	174						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTAAACAATTCGAACCCACCA	0.393000													52	61					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87685793	87685793	+	Silent	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:87685793T>G	ENST00000436978.1	+	25	4545	c.4065T>G	c.(4063-4065)acT>acG	p.T1355T	PTPN13_ENST00000411767.2_Silent_p.T1355T|PTPN13_ENST00000427191.2_Silent_p.T1336T|PTPN13_ENST00000511467.1_Silent_p.T1355T|PTPN13_ENST00000316707.6_Silent_p.T1164T	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1355						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATTTTAAAACTTTTTCTTCAT	0.343000													7	8					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765708	66765708	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:66765708T>C	ENST00000374690.3	+	1	1244	c.720T>C	c.(718-720)tgT>tgC	p.C240C	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.C240C|AR_ENST00000504326.1_Silent_p.C240C	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	238	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	AGGAGTTGTGTAAGGCAGTGT	0.602000									Androgen Insensitivity Syndrome				31	1					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31373186	31373186	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:31373186G>A	ENST00000268296.4	+	10	1163	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	ITGAX_ENST00000562522.1_Missense_Mutation_p.E348K	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	348					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TAGCTCCTTCGAATTGGAGAT	0.607000													65	92					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37543455	37543455	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:37543455C>A	ENST00000379066.1	-	2	975	c.213G>T	c.(211-213)gaG>gaT	p.E71D	PRKD3_ENST00000234179.2_Missense_Mutation_p.E71D			O94806	KPCD3_HUMAN	protein kinase D3	71					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGGTAACACTCTCCCGTGTGA	0.458000													67	81					4.38816e-42	6.18612e-42	1	1	0
CDCA7L	55536	broad.mit.edu	37	7	21945183	21945183	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:21945183C>T	ENST00000406877.3	-	7	1267	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	CDCA7L_ENST00000356195.5_Missense_Mutation_p.E296K|CDCA7L_ENST00000373934.4_Missense_Mutation_p.E284K|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	330					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						AAGTCCTCTTCGGTGATATCC	0.413000													30	40					0	0	1	0	0
AMELY	266	broad.mit.edu	37	Y	6736207	6736207	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrY:6736207T>C	ENST00000215479.5	-	5	511	c.444A>G	c.(442-444)caA>caG	p.Q148Q	AMELY_ENST00000383036.1_Silent_p.Q162Q|AMELY_ENST00000383037.4_Silent_p.Q162Q	NM_001143.1	NP_001134.1	Q99218	AMELY_HUMAN	amelogenin, Y-linked	162	Gln-rich.				biomineral tissue development	proteinaceous extracellular matrix	structural constituent of tooth enamel			NS(1)|lung(5)	6						GCTGCATGGGTTGCACAGGTG	0.652000													24	2					0	0	1	0	0
DRAXIN	374946	broad.mit.edu	37	1	11779682	11779682	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:11779682A>G	ENST00000294485.5	+	7	1114	c.979A>G	c.(979-981)Aca>Gca	p.T327A		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		CCGCAGGGTTACACGGAGGAA	0.677000											OREG0013102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	18					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45239190	45239190	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:45239190C>T	ENST00000279027.4	-	3	454	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	SLC13A3_ENST00000339636.3_Missense_Mutation_p.A146T|SLC13A3_ENST00000290317.5_Missense_Mutation_p.A99T|SLC13A3_ENST00000372121.1_Missense_Mutation_p.A146T|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Missense_Mutation_p.A99T|SLC13A3_ENST00000413164.2_Missense_Mutation_p.A146T|SLC13A3_ENST00000472148.1_Missense_Mutation_p.A99T|SLC13A3_ENST00000417157.2_Missense_Mutation_p.A99T|SLC13A3_ENST00000396360.1_Missense_Mutation_p.A99T	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	146						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.A146T(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GCAGTGGAGGCGGTGTTGCTC	0.547000													64	98					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36291965	36291965	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:36291965C>A	ENST00000437635.2	-	7	1348	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	391								p.E391*(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TGAATGAATTCTTCTGAAAAA	0.483000													35	47					5.8336e-16	7.11913e-16	1	1	0
PTX3	5806	broad.mit.edu	37	3	157160326	157160326	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:157160326A>G	ENST00000295927.3	+	3	849	c.704A>G	c.(703-705)gAa>gGa	p.E235G	VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	235	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AATCCATATGAAATCCAGCTG	0.458000													55	61					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173734758	173734758	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:173734758C>T	ENST00000506823.1	+	7	1464	c.807C>T	c.(805-807)ttC>ttT	p.F269F	GALNTL6_ENST00000508122.1_Silent_p.F252F	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	269						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ACAATCACTTCGGGTATGAGG	0.473000													22	39					0	0	1	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51770668	51770668	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:51770668C>T	ENST00000316401.7	+	5	833	c.452C>T	c.(451-453)gCg>gTg	p.A151V	SIGLECL1_ENST00000597824.1_Missense_Mutation_p.A57V|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_3'UTR	NM_173635.1	NP_775906.1			SIGLEC family like 1									p.A151V(1)									AAAGCTGCAGCGATCAGAGCA	0.468000													62	90					0	0	1	0	0
RSPH10B	222967	broad.mit.edu	37	7	5967904	5967904	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:5967904C>A	ENST00000405415.1	-	19	2741	c.2355G>T	c.(2353-2355)gaG>gaT	p.E785D	RSPH10B_ENST00000404406.1_Missense_Mutation_p.E785D|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000441023.2_Missense_Mutation_p.E785D|RSPH10B_ENST00000337579.3_Missense_Mutation_p.E785D|RSPH10B_ENST00000535104.1_5'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	785										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		CCCTTATTTTCTCCTTGATAG	0.468000													72	176					5.12507e-49	7.29048e-49	1	1	0
DIO2	1734	broad.mit.edu	37	14	80669091	80669091	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:80669091G>A	ENST00000557010.1	-	4	1148	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	DIO2_ENST00000438257.4_Missense_Mutation_p.R255W|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.R291W|DIO2_ENST00000422005.3_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	255					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGCCAATGCCGGACTTCTTGA	0.408000													14	22					0	0	1	0	0
TSPAN32	10077	broad.mit.edu	37	11	2335797	2335797	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:2335797G>T	ENST00000182290.4	+	6	676	c.539G>T	c.(538-540)aGa>aTa	p.R180I	TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000381121.3_Missense_Mutation_p.R180I|TSPAN32_ENST00000451520.2_Missense_Mutation_p.R169I	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	180					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GAGGCGGCGAGAGAGGTGAGG	0.647000													6	4					0.0215528	0.0217485	1	1	0
MUTYH	4595	broad.mit.edu	37	1	45797721	45797721	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:45797721G>A	ENST00000450313.1	-	11	1186	c.971C>T	c.(970-972)tCg>tTg	p.S324L	MUTYH_ENST00000372104.1_Missense_Mutation_p.S296L|MUTYH_ENST00000372110.3_Missense_Mutation_p.S311L|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000448481.1_Missense_Mutation_p.S307L|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000456914.2_Missense_Mutation_p.S296L|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000528013.2_Missense_Mutation_p.S310L|MUTYH_ENST00000355498.2_Missense_Mutation_p.S296L|MUTYH_ENST00000372115.3_Missense_Mutation_p.S310L|MUTYH_ENST00000372098.3_Missense_Mutation_p.S321L|MUTYH_ENST00000354383.6_Missense_Mutation_p.S297L|MUTYH_ENST00000372100.5_Missense_Mutation_p.S307L	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	321					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					AGGACTGCCCGACAGGCTCCC	0.587000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				34	48					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37235831	37235831	+	Missense_Mutation	SNP	C	C	T	rs149680203		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:37235831C>T	ENST00000233099.5	-	28	4540	c.4445G>A	c.(4444-4446)cGc>cAc	p.R1482H	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R1482H	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1482							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TAACCACAGGCGACTGAGTGT	0.413000													39	42					0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18434294	18434294	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:18434294G>T	ENST00000541669.1	+	2	141	c.30G>T	c.(28-30)gaG>gaT	p.E10D	LDHC_ENST00000544105.1_Missense_Mutation_p.E10D|LDHC_ENST00000280704.4_Missense_Mutation_p.E10D|LDHC_ENST00000536880.1_Missense_Mutation_p.E10D|LDHC_ENST00000535809.1_Missense_Mutation_p.E10D|LDHC_ENST00000537486.1_Missense_Mutation_p.E10D|LDHC_ENST00000546146.1_Missense_Mutation_p.E10D			P07864	LDHC_HUMAN	lactate dehydrogenase C	10					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	AGCTAATTGAGAAGCTAATTG	0.393000													42	52					6.2361e-21	8.03701e-21	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8465489	8465489	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:8465489C>T	ENST00000381196.4	-	29	4234	c.3691G>A	c.(3691-3693)Gca>Aca	p.A1231T	PTPRD_ENST00000358503.5_Missense_Mutation_p.A1209T|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1231T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1218T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A820T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A810T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A817T|PTPRD_ENST00000537002.1_Missense_Mutation_p.A817T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A810T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1231T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A820T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1231					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCATTACTGCTAACACAAAG	0.403000										TSP Lung(15;0.13)			40	55					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446329	10446329	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:10446329C>T	ENST00000326756.3	-	3	2062	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAGCCCTTTTCTCCAGAGAAG	0.403000													54	53					0	0	1	0	0
TPPP	11076	broad.mit.edu	37	5	678138	678138	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:678138C>A	ENST00000360578.5	-	2	159	c.38G>T	c.(37-39)aGg>aTg	p.R13M		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	13	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		GGGGGGCGTCCTGTTGGCAGC	0.662000													3	13					0.000602214	0.000618688	1	1	0
MGAT4C	25834	broad.mit.edu	37	12	86374018	86374018	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:86374018G>A	ENST00000604798.1	-	8	1690	c.486C>T	c.(484-486)caC>caT	p.H162H	MGAT4C_ENST00000332156.1_Silent_p.H162H|MGAT4C_ENST00000393205.2_Silent_p.H191H|MGAT4C_ENST00000548651.1_Silent_p.H162H|MGAT4C_ENST00000549405.2_Silent_p.H162H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000552808.2_Silent_p.H162H			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	162					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.H162_H163>QN(1)|p.H162Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CAATAATATGGTGCGCAAATT	0.403000													51	58					0	0	1	0	0
MYOT	9499	broad.mit.edu	37	5	137222946	137222946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:137222946C>T	ENST00000239926.4	+	10	1743	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	MYOT_ENST00000421631.2_Nonsense_Mutation_p.R273*|MYOT_ENST00000515645.1_Nonsense_Mutation_p.R342*|RP11-381K20.2_ENST00000514616.1_RNA|RP11-381K20.2_ENST00000508281.2_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	457	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTTACGGGTTCGACCAACATT	0.393000													43	54					0	0	1	0	0
CAPZA2	830	broad.mit.edu	37	7	116544284	116544284	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:116544284G>T	ENST00000361183.3	+	5	412	c.273G>T	c.(271-273)aaG>aaT	p.K91N	CAPZA2_ENST00000490693.1_Missense_Mutation_p.K91N|CAPZA2_ENST00000458284.2_Missense_Mutation_p.K91N	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2						actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			TGGATCCAAAGAACAGAATCT	0.343000													18	43					5.03518e-11	5.75249e-11	1	1	0
RASGRP1	10125	broad.mit.edu	37	15	38808511	38808511	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:38808511T>G	ENST00000310803.5	-	6	739	c.562A>C	c.(562-564)Aaa>Caa	p.K188Q	RASGRP1_ENST00000450598.2_Missense_Mutation_p.K188Q|RASGRP1_ENST00000539159.1_Missense_Mutation_p.K140Q|RASGRP1_ENST00000558164.1_Missense_Mutation_p.K188Q|RASGRP1_ENST00000559830.1_Missense_Mutation_p.K188Q|RASGRP1_ENST00000561180.1_Missense_Mutation_p.K239Q	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	188					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GTATTTGATTTTATCCTTTGA	0.438000													32	40					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77921045	77921045	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:77921045A>G	ENST00000529308.1	+	10	2405	c.2144A>G	c.(2143-2145)gAa>gGa	p.E715G	USP35_ENST00000530267.1_Missense_Mutation_p.E283G|USP35_ENST00000441408.2_Missense_Mutation_p.E301G|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.E446G	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	715					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)			gtggaagaggaagaagagaag	0.582000													16	22					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55183823	55183823	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:55183823G>T	ENST00000337714.3	+	2	1231	c.998G>T	c.(997-999)aGa>aTa	p.R333I	AKAP1_ENST00000571629.1_Missense_Mutation_p.R333I|AKAP1_ENST00000572557.1_Missense_Mutation_p.R333I|AKAP1_ENST00000539273.1_Missense_Mutation_p.R333I|AKAP1_ENST00000314126.3_Missense_Mutation_p.R333I	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	333					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AGCTTGGATAGAAATGAGGAG	0.502000													54	80					1.07234e-20	1.38169e-20	1	1	0
MTERFD2	130916	broad.mit.edu	37	2	242039273	242039273	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:242039273C>T	ENST00000391980.2	-	2	116	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000407095.3_Missense_Mutation_p.A20T|MTERFD2_ENST00000495694.1_Missense_Mutation_p.A20T	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	20										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GCCATACAGGCCCAGGTGAGG	0.498000													22	1					0	0	1	0	0
KLF3	51274	broad.mit.edu	37	4	38690670	38690670	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:38690670A>C	ENST00000261438.5	+	3	827	c.522A>C	c.(520-522)gaA>gaC	p.E174D	KLF3_ENST00000514033.1_Missense_Mutation_p.E174D	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	174	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AGGAGATGGAAAATTCCAGTA	0.562000													31	23					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69320575	69320575	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:69320575C>A	ENST00000260364.5	+	4	442	c.141C>A	c.(139-141)ttC>ttA	p.F47L	NOX5_ENST00000530406.2_Missense_Mutation_p.F65L|NOX5_ENST00000455873.3_Missense_Mutation_p.F58L|NOX5_ENST00000448182.3_Missense_Mutation_p.F47L|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000388866.3_Missense_Mutation_p.F65L			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	65	EF-hand 1.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAGAGCGATTCTTTGCCCTAT	0.557000													85	79					2.22755e-30	3.0523e-30	1	1	0
ITGA11	22801	broad.mit.edu	37	15	68603417	68603417	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:68603417G>A	ENST00000423218.2	-	26	3187	c.3092C>T	c.(3091-3093)gCg>gTg	p.A1031V	ITGA11_ENST00000315757.7_Splice_Site_p.A1030V			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1030					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGACGTGTTCGCCTACATAAA	0.562000													7	7					0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160557588	160557588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:160557588G>A	ENST00000366963.4	+	6	1114	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	SLC22A1_ENST00000457470.2_Missense_Mutation_p.E323K|SLC22A1_ENST00000324965.4_Missense_Mutation_p.E323K	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	323						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GCTTTCCCTCGAAGAGGATGT	0.602000													48	60					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170580	58170580	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:58170580G>A	ENST00000309403.2	-	1	302	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAGCTACAAAGATATACATTT	0.448000													66	75					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64486747	64486747	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:64486747T>G	ENST00000358025.3	+	35	5317	c.5087T>G	c.(5086-5088)tTt>tGt	p.F1696C	SYNE2_ENST00000554584.1_Missense_Mutation_p.F1696C|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.F1696C	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1696					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACTTCAGAATTTTCTAGAAGA	0.299000													31	29					0	0	1	0	0
CHRNE	1145	broad.mit.edu	37	17	4805238	4805238	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:4805238C>T	ENST00000293780.4	-	5	499	c.489G>A	c.(487-489)tcG>tcA	p.S163S	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_Intron	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	163			S -> L (in FCCMS; fails to assemble with alpha CHRNA1 subunit of AChR).		muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						GGAAAATAAGCGAACAGTTCT	0.647000													43	70					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41960673	41960673	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:41960673G>T	ENST00000269095.4	-	4	505	c.201C>A	c.(199-201)aaC>aaA	p.N67K	MPP2_ENST00000523501.1_Missense_Mutation_p.N56K|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000518766.1_Missense_Mutation_p.N112K|MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000461854.1_Missense_Mutation_p.N91K|MPP2_ENST00000377184.3_Missense_Mutation_p.N84K|MPP2_ENST00000536246.1_Missense_Mutation_p.N56K	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	91					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCAGCTCCAGGTTGTTGTCTC	0.662000													11	20					0.00136819	0.00139942	1	1	0
TRIM71	131405	broad.mit.edu	37	3	32932217	32932217	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:32932217C>A	ENST00000383763.5	+	4	1584	c.1521C>A	c.(1519-1521)gtC>gtA	p.V507V		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTTCACAGTCATTGGTTATG	0.607000													22	15					7.45023e-12	8.57218e-12	1	1	0
FGA	2243	broad.mit.edu	37	4	155510095	155510095	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:155510095C>A	ENST00000302053.3	-	3	292	c.214G>T	c.(214-216)Ggg>Tgg	p.G72W	FGA_ENST00000403106.3_Missense_Mutation_p.G72W	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	72					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCAATCAACCCTTTCATCCTG	0.328000													21	34					4.35082e-09	4.8279e-09	1	1	0
MSR1	4481	broad.mit.edu	37	8	16026069	16026069	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:16026069G>T	ENST00000350896.3	-	4	725	c.528C>A	c.(526-528)atC>atA	p.I176I	MSR1_ENST00000262101.5_Silent_p.I176I|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Silent_p.I176I|MSR1_ENST00000445506.2_Silent_p.I194I|MSR1_ENST00000355282.2_Silent_p.I176I	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	176					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGGACTTGGAGATTTCATCTA	0.368000													34	39					1.62565e-12	1.88551e-12	1	1	0
FYN	2534	broad.mit.edu	37	6	112041037	112041037	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:112041037G>A	ENST00000354650.3	-	4	824	c.218C>T	c.(217-219)aCg>aTg	p.T73M	FYN_ENST00000368682.3_Missense_Mutation_p.T73M|FYN_ENST00000229470.5_Missense_Mutation_p.T73M|FYN_ENST00000356013.2_Missense_Mutation_p.T73M|FYN_ENST00000368678.4_Missense_Mutation_p.T73M|FYN_ENST00000538466.1_Missense_Mutation_p.T73M|FYN_ENST00000368667.2_Missense_Mutation_p.T73M|FYN_ENST00000229471.4_Missense_Mutation_p.T73M	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	73					axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CAAGGTCCCCGTATGAGACGA	0.557000													32	30					0	0	1	0	0
PLCD3	113026	broad.mit.edu	37	17	43196221	43196221	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:43196221C>T	ENST00000322765.5	-	5	987	c.874G>A	c.(874-876)Gcc>Acc	p.A292T	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	292					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	AGCTGCTGGGCGCGGGCCAGT	0.657000													9	13					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110385099	110385099	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:110385099C>T	ENST00000360185.4	-	14	1617	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	TCHP_ENST00000550780.1_Intron|GIT2_ENST00000354574.4_Missense_Mutation_p.E487K|GIT2_ENST00000551209.1_Missense_Mutation_p.E484K|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000343646.5_Missense_Mutation_p.E455K|GIT2_ENST00000361006.5_Missense_Mutation_p.E535K|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000457474.2_Missense_Mutation_p.E487K|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000355312.3_Missense_Mutation_p.E535K	NM_014776.3	NP_055591.2	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	535					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CTGCTCTCTTCGGGGCGGCTC	0.582000													32	46					0	0	1	0	0
POLH	5429	broad.mit.edu	37	6	43565467	43565467	+	Silent	SNP	C	C	T	rs150901869		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:43565467C>T	ENST00000372236.4	+	5	820	c.525C>T	c.(523-525)ctC>ctT	p.L175L	POLH_ENST00000535400.1_Silent_p.L113L|POLH_ENST00000372226.1_Silent_p.L175L	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	175	UmuC.				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TTCAATGGCTCGATTCTCTTC	0.403000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				32	39					0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58016129	58016129	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:58016129G>T	ENST00000599847.1	+	2	280	c.138G>T	c.(136-138)gaG>gaT	p.E46D	ZNF773_ENST00000598770.1_Missense_Mutation_p.E45D|AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000593916.1_Missense_Mutation_p.E45D|ZNF773_ENST00000282292.4_Missense_Mutation_p.E46D			Q6PK81	ZN773_HUMAN	zinc finger protein 773	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TGATGCTGGAGAACTTTACAC	0.532000													10	68					2.17888e-05	2.28784e-05	1	1	0
LEPR	3953	broad.mit.edu	37	1	66038085	66038085	+	Missense_Mutation	SNP	G	G	T	rs11811070		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:66038085G>T	ENST00000349533.6	+	5	632	c.447G>T	c.(445-447)aaG>aaT	p.K149N	LEPR_ENST00000344610.8_Missense_Mutation_p.K149N|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.K149N|LEPR_ENST00000371060.3_Missense_Mutation_p.K149N|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Missense_Mutation_p.K149N	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	149					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CATTATTTAAGAATCTATTCA	0.259000													8	12					0.307466	0.307755	1	1	0
RBMXL1	494115	broad.mit.edu	37	1	89448584	89448584	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:89448584C>T	ENST00000399794.2	-	3	1641	c.926G>A	c.(925-927)cGc>cAc	p.R309H	RBMXL1_ENST00000321792.5_Missense_Mutation_p.R309H|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	309	Ser-rich.						nucleotide binding|RNA binding										ATCATCATAGCGACTGCTTCC	0.493000													134	147					0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947785	35947785	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:35947785C>T	ENST00000216127.4	+	3	1149	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	169					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GCGCCTACTTCGAGGTGTCGG	0.622000													23	34					0	0	1	0	0
EFNB3	1949	broad.mit.edu	37	17	7611546	7611546	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:7611546G>A	ENST00000226091.2	+	2	790	c.393G>A	c.(391-393)tcG>tcA	p.S131S		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	131					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				AGTTCCGCTCGCACCACGATT	0.572000													50	56					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77666773	77666773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:77666773C>T	ENST00000461745.1	+	22	4303	c.3403C>T	c.(3403-3405)Cga>Tga	p.R1135*	ROBO2_ENST00000487694.3_Nonsense_Mutation_p.R1151*|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Nonsense_Mutation_p.R1135*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1135					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.R1151*(1)|p.R1135*(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCTCCTGTTCGAGGCGTGGC	0.517000													43	48					0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27117528	27117528	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:27117528G>T	ENST00000354828.3	+	3	612	c.85G>T	c.(85-87)Gaa>Taa	p.E29*	GABPA_ENST00000487266.1_3'UTR|GABPA_ENST00000400075.3_Nonsense_Mutation_p.E29*	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	29					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						TAGCATTGTAGAACAAACCTA	0.373000													35	35					2.05212e-20	2.63646e-20	1	1	0
KIAA0947	23379	broad.mit.edu	37	5	5460955	5460955	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:5460955A>C	ENST00000296564.7	+	13	1730	c.1508A>C	c.(1507-1509)aAa>aCa	p.K503T		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	503										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACCATTCATAAACTCACTCGA	0.448000													42	52					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36430971	36430971	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:36430971G>A	ENST00000588831.1	+	3	1698	c.644G>A	c.(643-645)cGc>cAc	p.R215H	LRFN3_ENST00000246529.3_Missense_Mutation_p.R215H			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	215					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCTCCAACCGCCTGACCACA	0.697000													131	139					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10078727	10078727	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:10078727C>T	ENST00000264828.3	-	60	4428	c.4343G>A	c.(4342-4344)gGc>gAc	p.G1448D		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1448	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCAGGGTGGCCCAGAGAGCC	0.602000													37	47					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135189	156135189	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:156135189T>C	ENST00000329476.3	+	2	587	c.98T>C	c.(97-99)gTc>gCc	p.V33A	NPY2R_ENST00000506608.1_Missense_Mutation_p.V33A	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	33					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GGTGAACTGGTCCCTGACCCT	0.468000													29	32					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66188702	66188702	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:66188702G>A	ENST00000311034.2	+	1	228	c.52G>A	c.(52-54)Gcc>Acc	p.A18T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	18	Helix-loop-helix motif.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCAGATCAACGCCGAGATCCG	0.677000													23	24					0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84234239	84234239	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:84234239A>C	ENST00000536636.1	+	3	1424	c.1079A>C	c.(1078-1080)aAg>aCg	p.K360T	PRSS35_ENST00000369700.3_Missense_Mutation_p.K360T	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	360	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CCAGACAAAAAGAATTGGAAG	0.527000													35	54					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55914242	55914242	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:55914242C>T	ENST00000388975.3	-	3	259	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	48					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAATCCTTGTCGGATAGATCT	0.318000													9	136					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512532	248512532	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:248512532C>A	ENST00000317861.1	+	1	456	c.456C>A	c.(454-456)gtC>gtA	p.V152V		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GTGGTCTTGTCTATGCAGGCA	0.527000													27	30					2.44723e-14	2.91644e-14	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2816819	2816819	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:2816819G>T	ENST00000301740.8	+	11	6839	c.6290G>T	c.(6289-6291)aGa>aTa	p.R2097I		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2097	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCAGCAACAAGAAATCATTCT	0.512000													76	129					3.31162e-33	4.58485e-33	1	1	0
CEL	1056	broad.mit.edu	37	9	135945950	135945950	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:135945950C>T	ENST00000372080.4	+	10	1414	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	463					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		AGTACGTTTTCGGGAAGCCCT	0.582000													75	233					0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48825413	48825413	+	Silent	SNP	G	G	A	rs138421307		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:48825413G>A	ENST00000371847.3	-	10	1103	c.939C>T	c.(937-939)ttC>ttT	p.F313F	SPATA6_ENST00000371843.3_Silent_p.F313F|SPATA6_ENST00000396199.3_Silent_p.F241F	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	313					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		p.F313F(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AAGAGTCATCGAAGTCTCTCC	0.373000													13	21					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271642	1271642	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:1271642G>T	ENST00000447027.1	+	31	13599	c.13541G>T	c.(13540-13542)aGa>aTa	p.R4514I	MUC5B_ENST00000529681.1_Missense_Mutation_p.R4511I			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4511	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGCACTGAGAAGCACAGCC	0.627000													115	139					4.61678e-68	6.63647e-68	1	1	0
IGHV1-18	28468	broad.mit.edu	37	14	106641745	106641745	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:106641745G>A	ENST00000390605.2	-	0	227																											GGGGCCTGTCGCACCCAGCTG	0.552000													128	148					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54911668	54911668	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:54911668C>T	ENST00000293373.6	+	13	1363	c.1284C>T	c.(1282-1284)taC>taT	p.Y428Y	NCKAP1L_ENST00000545638.2_Silent_p.Y378Y	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	428					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TACAGCAATACCACCTTCAGT	0.398000													26	57					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370195	35370195	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:35370195C>T	ENST00000373347.1	-	3	1058	c.790G>A	c.(790-792)Gat>Aat	p.D264N	DLGAP3_ENST00000235180.4_Missense_Mutation_p.D264N			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	264					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AAGTTGTCATCGGAACTCCAC	0.657000													58	101					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210558473	210558473	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:210558473T>G	ENST00000360351.4	+	7	2085	c.1579T>G	c.(1579-1581)Tta>Gta	p.L527V	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.L523V	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	527					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ACCATCTGCATTAATTGAAAA	0.413000													45	2					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51631689	51631689	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:51631689G>A	ENST00000440804.3	+	6	1192	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K	SIGLEC9_ENST00000250360.3_Silent_p.K375K	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	375					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CCTGCAGGAAGAAATCGGCAA	0.577000													27	45					0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158383145	158383145	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:158383145C>A	ENST00000486715.1	+	12	1757	c.1400C>A	c.(1399-1401)tCa>tAa	p.S467*	GFM1_ENST00000490261.1_3'UTR|GFM1_ENST00000478576.1_Nonsense_Mutation_p.S467*|GFM1_ENST00000264263.5_Nonsense_Mutation_p.S486*	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	467					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GAAAAATTTTCAAAAGGTATT	0.323000													7	16					0.00198382	0.00202405	1	1	0
CHD9	80205	broad.mit.edu	37	16	53289639	53289639	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:53289639G>A	ENST00000566029.1	+	19	4366	c.4157G>A	c.(4156-4158)cGt>cAt	p.R1386H	CHD9_ENST00000398510.3_Missense_Mutation_p.R1386H|CHD9_ENST00000447540.1_Missense_Mutation_p.R1386H|CHD9_ENST00000564845.1_Missense_Mutation_p.R1386H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1386					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTACTACGTCGTACAAAAACT	0.393000													65	107					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16893764	16893764	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:16893764A>C	ENST00000430580.2	-	25	3636	c.2749T>G	c.(2749-2751)Tat>Gat	p.Y917D	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	917	NBPF 5.					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)		AGTTCAAGATAACCTGAAGGA	0.493000													49	1394					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776533	38776533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:38776533G>A	ENST00000308973.4	-	4	1284	c.679C>T	c.(679-681)Caa>Taa	p.Q227*	TLR10_ENST00000506111.1_Nonsense_Mutation_p.Q227*|TLR10_ENST00000361424.2_Nonsense_Mutation_p.Q227*|TLR10_ENST00000508334.1_Nonsense_Mutation_p.Q227*	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	227					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CTTACAAATTGGCTTTTGCCA	0.328000													29	24					0	0	1	0	0
MORN5	254956	broad.mit.edu	37	9	124922282	124922282	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:124922282G>A	ENST00000536616.1	+	1	69	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	MORN5_ENST00000373764.3_Missense_Mutation_p.E11K			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	11										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						ATATATCGGGGAATATGTAGA	0.458000													36	56					0	0	1	0	0
OVOL2	58495	broad.mit.edu	37	20	18005307	18005307	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:18005307G>A	ENST00000278780.6	-	4	1043	c.801C>T	c.(799-801)agC>agT	p.S267S	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	267					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						cctcACTCAGGCTGGTATTCT	0.532000													11	16					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716898	13716898	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:13716898G>A	ENST00000609686.1	-	13	3483	c.3274C>T	c.(3274-3276)Cgg>Tgg	p.R1092W		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAGGCAGGCCGCTTCTTCAGG	0.607000													5	36					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561909	147561909	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:147561909C>T	ENST00000281321.3	+	2	1427	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	393					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCGTCTGGTTCTGCAACCAGA	0.537000													35	58					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96579575	96579575	+	Missense_Mutation	SNP	G	G	A	rs151108485		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:96579575G>A	ENST00000376747.3	-	18	2063	c.1993C>T	c.(1993-1995)Cgc>Tgc	p.R665C		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	665					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GCATTCGTGCGATCATTTAAT	0.299000													17	26					0	0	1	0	0
LRRC28	123355	broad.mit.edu	37	15	99828120	99828120	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:99828120C>T	ENST00000301981.3	+	5	589	c.349C>T	c.(349-351)Cga>Tga	p.R117*	LRRC28_ENST00000442993.2_Nonsense_Mutation_p.R117*|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000422500.2_Nonsense_Mutation_p.R117*|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000447360.2_Nonsense_Mutation_p.R117*	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	117										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			ACGTCATCTTCGATTAGCTAA	0.373000													36	45					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161457	25161457	+	RNA	SNP	G	G	A	rs1851732	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:25161457G>A	ENST00000453498.1	+	0	981				TPTE2P6_ENST00000440905.1_RNA																							TTATTTATTCGATTCGTGGTA	0.378000													12	19					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24760146	24760146	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:24760146G>A	ENST00000379068.3	+	22	2417	c.2374G>A	c.(2374-2376)Gag>Aag	p.E792K	POLA1_ENST00000379059.3_Missense_Mutation_p.E786K			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	786					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TGGACGATCCGAGCGTAACGA	0.398000													37	2					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78649352	78649352	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:78649352C>A	ENST00000436010.2	-	28	5732	c.4735G>T	c.(4735-4737)Gaa>Taa	p.E1579*	ROBO1_ENST00000467549.1_Nonsense_Mutation_p.E1518*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.E1573*|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000464233.1_Nonsense_Mutation_p.E1618*			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1618					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTTGCTTGTTCTCTTTGTCTG	0.373000													24	28					2.52088e-20	3.23558e-20	1	1	0
CRISPLD1	83690	broad.mit.edu	37	8	75898440	75898440	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:75898440G>A	ENST00000262207.4	+	2	686	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	CRISPLD1_ENST00000519798.1_Intron	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	73						extracellular region		p.R73Q(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			AATAAATTACGAAGTCAGGTG	0.398000													47	50					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36402403	36402403	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:36402403C>A	ENST00000255448.4	-	9	1482	c.1271G>T	c.(1270-1272)aGc>aTc	p.S424I	DCLK1_ENST00000360631.3_Missense_Mutation_p.S424I|DCLK1_ENST00000379893.1_Missense_Mutation_p.S117I	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	424	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCGACATTTGCTTTTCTTGAT	0.313000													17	19					0.000566183	0.000582681	1	1	0
CNGA2	1260	broad.mit.edu	37	X	150912344	150912344	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:150912344G>T	ENST00000329903.4	+	6	1402	c.1369G>T	c.(1369-1371)Gat>Tat	p.D457Y		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	457					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CATCTTCCATGATTGTGAGGC	0.522000													54	3					1.59911e-31	2.19909e-31	1	1	0
SPAG17	200162	broad.mit.edu	37	1	118628556	118628556	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:118628556A>C	ENST00000336338.5	-	13	1816	c.1751T>G	c.(1750-1752)tTt>tGt	p.F584C		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	584						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACTCGTACAAAAGTGCATAAG	0.378000													40	52					0	0	1	0	0
NACC1	112939	broad.mit.edu	37	19	13247179	13247179	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:13247179C>T	ENST00000292431.4	+	3	1206	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	360					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CCAAGCTCTACGACGAGGGCG	0.657000													45	47					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47938708	47938708	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:47938708C>T	ENST00000402813.3	-	10	2152	c.2010G>A	c.(2008-2010)caG>caA	p.Q670Q	CNGA1_ENST00000514170.1_Silent_p.Q601Q|CNGA1_ENST00000420489.2_Silent_p.Q601Q|CNGA1_ENST00000544810.1_Silent_p.Q601Q|CNGA1_ENST00000358519.4_Silent_p.Q601Q			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	601					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCATTAAAATCTGCTTCCCTT	0.433000													87	111					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909642	123909642	+	Missense_Mutation	SNP	C	C	T	rs141182295		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:123909642C>T	ENST00000330487.5	-	1	75	c.67G>A	c.(67-69)Gcc>Acc	p.A23T		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAGAGGGGGGCGTCCAGCCCT	0.567000													40	69					0	0	1	0	0
AK8	158067	broad.mit.edu	37	9	135703440	135703440	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:135703440G>A	ENST00000298545.3	-	7	1037	c.516C>T	c.(514-516)atC>atT	p.I172I	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	172						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						AGTTTCTCTCGATCAGGACCG	0.552000													3	2					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323144	31323144	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:31323144G>A	ENST00000265071.2	+	12	2367	c.2102G>A	c.(2101-2103)cGa>cAa	p.R701Q		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	701					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTCCTACCCCGACGGACTCCA	0.522000													40	43					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133201512	133201512	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:133201512G>A	ENST00000320574.5	-	48	6769	c.6726C>T	c.(6724-6726)ttC>ttT	p.F2242F	POLE_ENST00000535270.1_Silent_p.F2215F	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2242					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGTGAGGGCGAAGTCTCCCG	0.662000								DNA polymerases (catalytic subunits)					41	27					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27092842	27092842	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:27092842G>A	ENST00000324856.7	+	9	3234	c.2863G>A	c.(2863-2865)Gcc>Acc	p.A955T	ARID1A_ENST00000457599.2_Missense_Mutation_p.A955T|ARID1A_ENST00000374152.2_Missense_Mutation_p.A572T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	955					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGGAACCATGGCCAACAATTC	0.453000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								36	42					0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	265837	265837	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:265837C>A	ENST00000419098.1	-	4	819	c.809G>T	c.(808-810)aGa>aTa	p.R270I		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						AGCATGAATTCTCTTATGCTT	0.363000													17	20					1.45105e-14	1.73353e-14	1	1	0
PROS1	5627	broad.mit.edu	37	3	93605335	93605335	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:93605335C>A	ENST00000394236.3	-	11	1484	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*	PROS1_ENST00000407433.1_Nonsense_Mutation_p.E259*	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	390	Laminin G-like 1.		E -> K (in PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TGTTCTAATTCTTCCACAGAC	0.313000													46	50					1.00001e-27	1.35459e-27	1	1	0
JAG1	182	broad.mit.edu	37	20	10621489	10621489	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:10621489C>T	ENST00000254958.5	-	25	3656	c.3141G>A	c.(3139-3141)tcG>tcA	p.S1047S	JAG1_ENST00000423891.2_Silent_p.S888S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1047					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGCAATCAGCGAGCTGTTTC	0.448000									Alagille Syndrome				33	40					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409434	59409434	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:59409434C>T	ENST00000301645.3	-	3	774	c.637G>A	c.(637-639)Gac>Aac	p.D213N		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	213					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AAGACTTTGTCGAATTGCTTG	0.478000									Neonatal Giant Cell Hepatitis				59	44					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750458	140750458	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140750458C>T	ENST00000576222.1	+	1	628	c.497C>T	c.(496-498)tCg>tTg	p.S166L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTCAATTCGCTGCAGCAG	0.502000													172	178					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737065	4737065	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:4737065C>T	ENST00000545990.2	-	5	1527	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	AKAP3_ENST00000228850.1_Missense_Mutation_p.D335N|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	335					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AAGAAGGAGTCGATGAGATCC	0.488000													29	26					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61560533	61560533	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:61560533C>T	ENST00000290866.4	+	9	1510	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	ACE_ENST00000538928.1_Intron|ACE_ENST00000584529.1_Intron|ACE_ENST00000428043.1_Splice_Site_p.R496*	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	496	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GTGGTATCTTCGGTGAGAGGA	0.627000													83	98					0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66975531	66975531	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:66975531C>T	ENST00000317091.4	+	7	2214	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	CES2_ENST00000417689.1_Silent_p.F410F	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	346					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		ACAATGAATTCGGCTGGCTCA	0.607000													42	52					0	0	1	0	0
PPA2	27068	broad.mit.edu	37	4	106359121	106359121	+	Missense_Mutation	SNP	C	C	T	rs146013446	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:106359121C>T	ENST00000341695.5	-	6	544	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	PPA2_ENST00000354147.3_Intron|PPA2_ENST00000348706.5_Intron|PPA2_ENST00000380004.2_Missense_Mutation_p.E154K|PPA2_ENST00000509426.1_5'UTR|PPA2_ENST00000432483.2_Intron|PPA2_ENST00000357415.4_Missense_Mutation_p.E187K|PPA2_ENST00000310267.7_Missense_Mutation_p.E93K	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	172					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		GAGCCTATTTCGCAAACATCA	0.318000													28	31					0	0	1	0	0
NOXRED1	122945	broad.mit.edu	37	14	77872299	77872299	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:77872299C>A	ENST00000380835.2	-	5	1028	c.862G>T	c.(862-864)Gat>Tat	p.D288Y		NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	288					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTGACAAAATCTGTTAATTGC	0.458000													9	13					3.07112e-06	3.27107e-06	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37026774	37026774	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:37026774G>T	ENST00000358047.3	+	1	343	c.291G>T	c.(289-291)ctG>ctT	p.L97L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	97										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						AGAAAAAGCTGCTCAAGAAAG	0.532000													68	7					2.26907e-38	3.17777e-38	1	1	0
FASTKD1	79675	broad.mit.edu	37	2	170393812	170393812	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:170393812T>G	ENST00000453153.2	-	12	2459	c.2113A>C	c.(2113-2115)Aaa>Caa	p.K705Q	FASTKD1_ENST00000495505.1_Intron|FASTKD1_ENST00000453929.2_Missense_Mutation_p.K662Q	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	705					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GCTAACATTTTAAAAATCTGC	0.313000													53	39					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91406379	91406379	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:91406379A>C	ENST00000370440.1	-	3	749	c.532T>G	c.(532-534)Tta>Gta	p.L178V	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.L178V|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACATCTGATAACAAAAATAAA	0.403000													76	76					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91631616	91631616	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:91631616T>C	ENST00000359028.2	+	9	2646	c.2421T>C	c.(2419-2421)acT>acC	p.T807T	AKAP9_ENST00000356239.3_Silent_p.T795T|AKAP9_ENST00000358100.2_Silent_p.T807T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	807	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAATACATACTCCTGTTAGCC	0.323000			T	BRAF	papillary thyroid								38	52					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65415708	65415708	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:65415708G>A	ENST00000330909.8	-	12	1653	c.1654C>T	c.(1654-1656)Ctc>Ttc	p.L552F	MAGI1_ENST00000497477.2_Missense_Mutation_p.L552F|MAGI1_ENST00000483466.1_Missense_Mutation_p.L552F|MAGI1_ENST00000402939.2_Missense_Mutation_p.L552F	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	552	PDZ 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCTCGGCAGAGTTCAAGGTCC	0.453000													23	33					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540850	55540850	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:55540850G>A	ENST00000220676.1	+	4	4556	c.4408G>A	c.(4408-4410)Gaa>Aaa	p.E1470K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1470					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)			ATCTTTTGAAGAATTAGAAAA	0.378000													22	42					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038368	75038368	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:75038368G>A	ENST00000326665.5	-	14	3244	c.3026C>T	c.(3025-3027)tCg>tTg	p.S1009L	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1009	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						GCTGCCCTCCGAAACCTGCAT	0.542000													46	43					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15871649	15871649	+	RNA	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:15871649A>C	ENST00000595525.1	+	0	465																											GAAGGGAATAAAAGCCAGAGG	0.572000													39	58					0	0	1	0	0
PODXL2	50512	broad.mit.edu	37	3	127379491	127379491	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:127379491C>A	ENST00000342480.6	+	3	659	c.620C>A	c.(619-621)tCt>tAt	p.S207Y		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	207					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CGTGACTTTTCTCTCACCAGC	0.582000													63	70					7.92265e-33	1.09488e-32	1	1	0
RASAL3	64926	broad.mit.edu	37	19	15567035	15567035	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:15567035G>T	ENST00000343625.7	-	11	1686	c.1601C>A	c.(1600-1602)gCt>gAt	p.A534D		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3		Ras-GAP.				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						CTCAGTAGAAGCACAGAGACG	0.602000													26	22					1.1804e-14	1.4124e-14	1	1	0
TRPM2	7226	broad.mit.edu	37	21	45811154	45811154	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:45811154G>A	ENST00000397928.1	+	11	1885		c.e11-1		TRPM2_ENST00000300482.5_Splice_Site|TRPM2_ENST00000397932.2_Splice_Site|TRPM2_ENST00000300481.9_Splice_Site|TRPM2_ENST00000498430.1_Splice_Site	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2							integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTTGCTCTCAGCCTTCAGATC	0.542000													27	35					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233807105	233807105	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:233807105C>A	ENST00000366621.3	+	3	1008	c.840C>A	c.(838-840)ttC>ttA	p.F280L	KCNK1_ENST00000366620.1_Missense_Mutation_p.F164L|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	280						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GAAAAATGTTCTATGTGAAGA	0.458000													26	25					7.92952e-12	9.11775e-12	1	1	0
NAPB	63908	broad.mit.edu	37	20	23383639	23383639	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:23383639T>G	ENST00000377026.4	-	2	254	c.169A>C	c.(169-171)Aat>Cat	p.N57H	NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000432543.2_Missense_Mutation_p.N57H|NAPB_ENST00000398425.3_5'UTR	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	57					intracellular protein transport|vesicle-mediated transport	membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CCACTCCAATTTTTAGCCATC	0.333000													19	23					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57592287	57592287	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:57592287C>T	ENST00000243077.3	+	60	9976	c.9510C>T	c.(9508-9510)atC>atT	p.I3170I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3170					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATTCACTGATCGGCCGCATCG	0.607000													18	13					0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35554774	35554774	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:35554774C>A	ENST00000542713.1	-	7	943	c.786G>T	c.(784-786)aaG>aaT	p.K262N	FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000539068.1_Intron|FKBP5_ENST00000536438.1_Intron|FKBP5_ENST00000357266.4_Intron	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	0					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TGAATAAATTCTTTGAGATGG	0.383000													33	56					3.67414e-24	4.85847e-24	1	1	0
STK31	56164	broad.mit.edu	37	7	23827687	23827687	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:23827687A>C	ENST00000354639.3	+	21	2971	c.2507A>C	c.(2506-2508)aAt>aCt	p.N836T	STK31_ENST00000433467.2_Missense_Mutation_p.N859T|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.N859T|STK31_ENST00000428484.1_Missense_Mutation_p.N836T	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	859	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CATCAGAACAATGTATTTGCT	0.358000													39	52					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21337335	21337335	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:21337335G>A	ENST00000215739.8	+	2	579	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	LZTR1_ENST00000389355.3_Missense_Mutation_p.V74M|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	74					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCACACAGTGGTGGCCTATAA	0.542000													36	34					0	0	1	0	0
ZKSCAN8	7745	broad.mit.edu	37	6	28121159	28121159	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:28121159A>G	ENST00000330236.6	+	6	1285	c.1101A>G	c.(1099-1101)tcA>tcG	p.S367S	ZKSCAN8_ENST00000457389.2_Silent_p.S367S	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		CCCTTCTTTCACATCAGGATA	0.483000													182	208					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45452066	45452066	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:45452066T>G	ENST00000331493.2	+	12	1517	c.1106T>G	c.(1105-1107)tTt>tGt	p.F369C	EFCAB13_ENST00000517484.1_Missense_Mutation_p.F273C	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		ATAAGAAAATTTCTGGGTGGG	0.318000													29	46					0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120180160	120180160	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:120180160C>T	ENST00000260264.4	+	10	973	c.939C>T	c.(937-939)atC>atT	p.I313I	POU2F3_ENST00000543440.2_Silent_p.I311I	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	311					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CGGAGGAGATCTCCATGATTG	0.542000													23	29					0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364549	29364549	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:29364549C>A	ENST00000383555.2	+	1	134	c.73C>A	c.(73-75)Ctc>Atc	p.L25I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GCAGCCTTTTCTCTTCGTGGT	0.433000													66	89					2.67592e-24	3.53936e-24	1	1	0
ANKRD7	56311	broad.mit.edu	37	7	117876899	117876899	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:117876899C>A	ENST00000357099.4	+	6	864	c.691C>A	c.(691-693)Ctt>Att	p.L231I	ANKRD7_ENST00000417525.1_Missense_Mutation_p.L158I|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000265224.4_Missense_Mutation_p.L211I|ANKRD7_ENST00000433239.1_Missense_Mutation_p.L158I			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	211					male gonad development			p.L231I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						AAAGCTTCTTCTTCAGCAAGG	0.398000													20	102					4.63292e-17	5.73257e-17	1	1	0
IQUB	154865	broad.mit.edu	37	7	123097544	123097544	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:123097544T>G	ENST00000466202.1	-	12	2660	c.2084A>C	c.(2083-2085)gAt>gCt	p.D695A	RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Missense_Mutation_p.D695A	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	695										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CATGACCAGATCACTGAGATT	0.468000													102	104					0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166613687	166613687	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:166613687C>T	ENST00000392701.3	-	7	2037	c.1262G>A	c.(1261-1263)aGc>aAc	p.S421N	GALNT3_ENST00000409882.1_Missense_Mutation_p.S159N	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	421					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						GCTATGAGGGCTTTTGCTGCG	0.393000													24	27					0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21719361	21719361	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:21719361G>A	ENST00000358491.4	+	4	714	c.506G>A	c.(505-507)gGa>gAa	p.G169E	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AGACATACTGGAAAGAAACCT	0.318000													20	27					0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131073667	131073667	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:131073667A>T	ENST00000352689.6	+	4	376	c.336A>T	c.(334-336)aaA>aaT	p.K112N	MKLN1_ENST00000429546.1_Missense_Mutation_p.K20N|MKLN1_ENST00000421797.2_Missense_Mutation_p.K20N	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	112					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ATTATAACAAAGAAACATTCA	0.299000													10	21					0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122075810	122075810	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:122075810C>A	ENST00000454328.1	-	7	615	c.388G>T	c.(388-390)Gaa>Taa	p.E130*	TNIP3_ENST00000509841.1_Nonsense_Mutation_p.E207*|TNIP3_ENST00000507879.1_Nonsense_Mutation_p.E200*|TNIP3_ENST00000057513.3_Nonsense_Mutation_p.E130*			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	130										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TCATGTAATTCTTCATTTAGG	0.308000													10	11					7.48243e-07	8.04836e-07	1	1	0
KIAA1377	57562	broad.mit.edu	37	11	101857673	101857673	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:101857673C>A	ENST00000263468.8	+	9	3415	c.3145C>A	c.(3145-3147)Cta>Ata	p.L1049I	KIAA1377_ENST00000537689.1_Missense_Mutation_p.L850I	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1049							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAAATCAAATCTACCTTTAAA	0.378000													43	58					1.15183e-24	1.52766e-24	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152542012	152542012	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:152542012C>T	ENST00000367255.5	-	119	22427	c.21826G>A	c.(21826-21828)Gat>Aat	p.D7276N	SYNE1_ENST00000448038.1_Missense_Mutation_p.D7205N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D7205N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D7276N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D6888N|SYNE1_ENST00000356820.4_Missense_Mutation_p.D1800N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7276					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTCATCATCGGCAATGTCC	0.473000										HNSCC(10;0.0054)			53	81					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43323774	43323774	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:43323774T>C	ENST00000361428.2	-	4	1375	c.1298A>G	c.(1297-1299)gAa>gGa	p.E433G	ZNF318_ENST00000318149.3_Missense_Mutation_p.E433G	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	433					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCCTTGTTTTCAATCTCTGA	0.527000													31	44					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45217865	45217865	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:45217865C>A	ENST00000279027.4	-	7	968	c.950G>T	c.(949-951)aGa>aTa	p.R317I	SLC13A3_ENST00000290317.5_Missense_Mutation_p.R270I|SLC13A3_ENST00000372121.1_Missense_Mutation_p.R267I|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Missense_Mutation_p.R270I|SLC13A3_ENST00000413164.2_Missense_Mutation_p.R267I|SLC13A3_ENST00000472148.1_Missense_Mutation_p.R270I|SLC13A3_ENST00000396360.1_Missense_Mutation_p.R270I	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	317						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TGCATTGGTTCTTATCTCAGA	0.488000													44	56					1.7489e-18	2.19819e-18	1	1	0
CHD5	26038	broad.mit.edu	37	1	6184141	6184141	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:6184141C>A	ENST00000262450.3	-	31	4665	c.4566G>T	c.(4564-4566)ggG>ggT	p.G1522G	CHD5_ENST00000378021.1_Silent_p.G379G	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1522					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCTGTACTTCCCGTTGACAT	0.632000													13	21					4.93089e-13	5.76424e-13	1	1	0
DCHS1	8642	broad.mit.edu	37	11	6648152	6648152	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:6648152C>T	ENST00000299441.3	-	14	6529	c.6118G>A	c.(6118-6120)Gcc>Acc	p.A2040T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2040	Cadherin 19.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATCAGTGGCCACAATGAAG	0.607000													17	32					0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919945	142919945	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:142919945C>A	ENST00000408947.3	+	1	816	c.774C>A	c.(772-774)ttC>ttA	p.F258L		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	258					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TCTACATTTTCAATGCAATTG	0.488000													72	84					8.73484e-25	1.15936e-24	1	1	0
FAM155A	728215	broad.mit.edu	37	13	108518060	108518060	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:108518060G>T	ENST00000375915.2	-	1	1023	c.885C>A	c.(883-885)taC>taA	p.Y295*		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	295						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ATTTCACCGAGTACTCCTCCG	0.507000													53	62					3.39706e-21	4.38656e-21	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125262038	125262038	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:125262038C>A	ENST00000431078.1	+	8	1593	c.1229C>A	c.(1228-1230)tCt>tAt	p.S410Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	410	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACAGAGCTGTCTGAGGGCTCG	0.532000													32	47					2.61193e-14	3.10994e-14	1	1	0
ROS1	6098	broad.mit.edu	37	6	117710712	117710712	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:117710712C>A	ENST00000368508.3	-	12	1758	c.1560G>T	c.(1558-1560)caG>caT	p.Q520H	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.Q529H	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	520					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACAAAGCATCCTGTTGGAAAA	0.433000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								41	35					9.85521e-28	1.33531e-27	1	1	0
DDX10	1662	broad.mit.edu	37	11	108594006	108594006	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:108594006G>T	ENST00000526794.1	+	13	1814	c.1782G>T	c.(1780-1782)gaG>gaT	p.E594D	DDX10_ENST00000322536.3_Missense_Mutation_p.E594D			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	594							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.E594_E618del(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		aaATGGAAGAGAAACTGGCAA	0.438000			T	NUP98	AML*								15	18					1.52009e-12	1.76538e-12	1	1	0
SYNDIG1	79953	broad.mit.edu	37	20	24646110	24646110	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:24646110C>T	ENST00000376862.3	+	4	1380	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	249					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TGGCCCTCATCGCCTACCTCT	0.647000													67	70					0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375838	93375838	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:93375838C>T	ENST00000375765.3	-	2	660	c.272G>A	c.(271-273)cGa>cAa	p.R91Q		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	91					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CAAGGACTGTCGGCTGGTAAT	0.577000													54	81					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513237	70513237	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:70513237C>T	ENST00000503640.1	-	1	181	c.126G>A	c.(124-126)gaG>gaA	p.E42E	UGT2A1_ENST00000512704.1_Silent_p.E42E|UGT2A1_ENST00000514019.1_Silent_p.E42E|UGT2A1_ENST00000286604.4_Silent_p.E42E	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	42					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						TTTTAATGAGCTCATCTATAA	0.398000													20	16					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1416253	1416253	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:1416253C>T	ENST00000270349.9	-	7	1118	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A331T	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	331					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CTGGAGAAGGCGATCAGCACC	0.612000													24	38					0	0	1	0	0
HERC5	51191	broad.mit.edu	37	4	89426829	89426829	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:89426829C>A	ENST00000264350.3	+	23	3028	c.2875C>A	c.(2875-2877)Ctt>Att	p.L959I	HERC5_ENST00000508159.1_Missense_Mutation_p.L597I	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	959	HECT.				innate immune response|ISG15-protein conjugation|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)		TTTAGTATTTCTTACAGGAAC	0.299000													8	9					1.12685e-05	1.18835e-05	1	1	0
RBM47	54502	broad.mit.edu	37	4	40440544	40440544	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:40440544C>T	ENST00000319592.4	-	4	1076	c.367G>A	c.(367-369)Gag>Aag	p.E123K	RBM47_ENST00000381793.2_Missense_Mutation_p.E123K|RBM47_ENST00000381795.6_Missense_Mutation_p.E123K|RBM47_ENST00000514014.1_Missense_Mutation_p.E85K|RBM47_ENST00000295971.7_Missense_Mutation_p.E123K|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	123	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGCTTGGCCTCGTGCTTGTGG	0.642000													21	37					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101777744	101777744	+	Missense_Mutation	SNP	G	G	A	rs145891402		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:101777744G>A	ENST00000375001.3	+	10	1822	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	467	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGCTGCAACCGAAGTGTCCCT	0.582000													23	34					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100533060	100533060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:100533060G>A	ENST00000372907.3	-	8	823	c.812C>T	c.(811-813)tCg>tTg	p.S271L	TAF7L_ENST00000356784.1_Missense_Mutation_p.S185L|TAF7L_ENST00000372905.2_Missense_Mutation_p.S185L|TAF7L_ENST00000324762.6_Missense_Mutation_p.S185L	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	271					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTCAGCATCCGAACGCAGCAG	0.443000													42	1					0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116183392	116183392	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:116183392T>C	ENST00000288462.4	+	5	801	c.355T>C	c.(355-357)Ttg>Ctg	p.L119L	C9orf43_ENST00000490544.1_3'UTR|C9orf43_ENST00000374165.1_Silent_p.L119L	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	119										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						GTTTCCAGTGTTGAATTTGAA	0.408000													21	38					0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90799029	90799029	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:90799029G>T	ENST00000438251.1	+	5	750	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	RP11-697E2.6_ENST00000561573.1_Intron|TTLL13_ENST00000339615.5_Missense_Mutation_p.D154Y			A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	154	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CTGCCGCAAAGATCTGCTGGC	0.532000													138	169					3.41043e-57	4.88133e-57	1	1	0
KCNA5	3741	broad.mit.edu	37	12	5153765	5153765	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:5153765A>C	ENST00000252321.3	+	1	681	c.452A>C	c.(451-453)aAg>aCg	p.K151T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	151						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GACCCCGCCAAGCGCCTGCGC	0.652000													33	36					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799642	133799642	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:133799642G>T	ENST00000372338.4	-	3	936	c.694C>A	c.(694-696)Ccc>Acc	p.P232T	FIBCD1_ENST00000448616.1_Missense_Mutation_p.P232T|FIBCD1_ENST00000372337.2_Missense_Mutation_p.P74T|FIBCD1_ENST00000253018.4_Missense_Mutation_p.P74T	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	232					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CAGCCCCGGGGCCGGGTTCCC	0.726000													7	9					0.000157383	0.000162881	1	1	0
TRIM2	23321	broad.mit.edu	37	4	154245282	154245282	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:154245282C>T	ENST00000338700.5	+	10	2069	c.2004C>T	c.(2002-2004)ttC>ttT	p.F668F	TRIM2_ENST00000437508.2_Silent_p.F641F	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	641						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TTACAGATTTCCATAATCATT	0.318000													19	12					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227288848	227288848	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:227288848G>T	ENST00000366769.3	-	15	3385	c.2094C>A	c.(2092-2094)atC>atA	p.I698I	CDC42BPA_ENST00000366766.2_Silent_p.I698I|CDC42BPA_ENST00000366767.3_Silent_p.I617I|CDC42BPA_ENST00000334218.5_Silent_p.I698I|CDC42BPA_ENST00000535525.1_Silent_p.I698I|CDC42BPA_ENST00000366764.2_Silent_p.I698I|CDC42BPA_ENST00000366765.3_Silent_p.I698I	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	698					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTTCATAAAAGATACTTTTCT	0.318000													20	18					4.96729e-08	5.42951e-08	1	1	0
EP400	57634	broad.mit.edu	37	12	132475180	132475180	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:132475180G>T	ENST00000333577.4	+	10	2767		c.e10-1		EP400_ENST00000330386.6_Splice_Site|EP400_ENST00000389562.2_Splice_Site|EP400_ENST00000332482.4_Splice_Site|EP400_ENST00000389561.2_Splice_Site			Q96L91	EP400_HUMAN	E1A binding protein p400						histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTTGCATTTAGGTTGTGGAAA	0.348000													27	39					9.39395e-14	1.10812e-13	1	1	0
CCR5	1234	broad.mit.edu	37	3	46415050	46415050	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:46415050A>C	ENST00000343801.4	+	3	1014	c.657A>C	c.(655-657)aaA>aaC	p.K219N	CCR5_ENST00000445772.1_Missense_Mutation_p.K219N|CCR5_ENST00000292303.4_Missense_Mutation_p.K219N|RP11-24F11.2_ENST00000451485.1_RNA	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	219					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GAATCCTAAAAACTCTGCTTC	0.453000													116	152					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75853049	75853049	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:75853049C>A	ENST00000322507.8	-	26	5055	c.4746G>T	c.(4744-4746)atG>atT	p.M1582I	COL12A1_ENST00000416123.2_Missense_Mutation_p.M1582I|COL12A1_ENST00000345356.6_Missense_Mutation_p.M418I|COL12A1_ENST00000483888.2_Missense_Mutation_p.M1582I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1582	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAAAGACATTCATAGTGCTGT	0.423000													33	38					1.62565e-12	1.88551e-12	1	1	0
PLEKHM2	23207	broad.mit.edu	37	1	16056295	16056295	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:16056295C>A	ENST00000375799.3	+	14	2306	c.2079C>A	c.(2077-2079)ttC>ttA	p.F693L	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.F673L	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	693					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TATGCAGGTTCTTTTTGGCTT	0.567000													34	46					1.56738e-10	1.77885e-10	1	1	0
OR5B21	219968	broad.mit.edu	37	11	58275538	58275538	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:58275538C>T	ENST00000360374.2	-	1	40	c.41G>A	c.(40-42)gGa>gAa	p.G14E		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATCTGTTAATCCCAAGAGGAT	0.443000													37	37					0	0	1	0	0
PDLIM7	9260	broad.mit.edu	37	5	176910877	176910877	+	Silent	SNP	G	G	A	rs143980931	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:176910877G>A	ENST00000355841.2	-	12	1344	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	PDLIM7_ENST00000505746.1_5'UTR|PDLIM7_ENST00000356618.4_3'UTR|PDLIM7_ENST00000359895.2_Silent_p.F392F	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	426	LIM zinc-binding 3.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCACAGACGAAGCAGGTGT	0.612000													27	24					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60925416	60925416	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:60925416C>A	ENST00000321731.3	-	14	1318	c.1159G>T	c.(1159-1161)Gaa>Taa	p.E387*		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	387										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CATTTTGATTCTCTTACTTGT	0.254000													28	23					1.56442e-22	2.04386e-22	1	1	0
PLK1	5347	broad.mit.edu	37	16	23700654	23700654	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:23700654C>T	ENST00000300093.4	+	8	1477	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	456	POLO box 1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GTACATAGAGCGTGACGGCAC	0.552000													35	49					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122437650	122437650	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:122437650T>G	ENST00000288912.4	+	20	3889	c.3035T>G	c.(3034-3036)tTt>tGt	p.F1012C		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1012							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GAAATCAAATTTGGTGAATAT	0.353000													25	24					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114278585	114278585	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:114278585C>A	ENST00000357077.4	+	38	8864	c.8811C>A	c.(8809-8811)ttC>ttA	p.F2937L	ANK2_ENST00000264366.6_Missense_Mutation_p.F2904L|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2904					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATCTTTTTTCTCTAGTGAAG	0.408000													122	145					8.09351e-62	1.16154e-61	1	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23803463	23803463	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:23803463G>T	ENST00000264867.2	-	12	2302	c.2183C>A	c.(2182-2184)gCt>gAt	p.A728D	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	728	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGCAGCAAAAGCATCACAGGT	0.393000													24	26					4.26978e-12	4.92127e-12	1	1	0
NCAM2	4685	broad.mit.edu	37	21	22881348	22881348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:22881348G>T	ENST00000400546.1	+	16	2503	c.2254G>T	c.(2254-2256)Gaa>Taa	p.E752*	NCAM2_ENST00000284894.7_Nonsense_Mutation_p.E610*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	752					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CAAAAGTAAAGAACTCGAAGA	0.453000													37	43					1.30998e-17	1.62847e-17	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48443374	48443374	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:48443374T>G	ENST00000435803.1	+	39	11992	c.11968T>G	c.(11968-11970)Ttc>Gtc	p.F3990V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3990	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGCATTGCTTTCATGGGCAT	0.552000													22	20					0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78204145	78204145	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:78204145C>A	ENST00000281038.5	-	7	1161	c.786G>T	c.(784-786)gaG>gaT	p.E262D	NARS2_ENST00000528850.1_Missense_Mutation_p.E35D	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	262					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CAAAAGAAATCTCTGCTTCTA	0.388000													39	43					1.03484e-13	1.22016e-13	1	1	0
PRAMEF11	440560	broad.mit.edu	37	1	12887480	12887480	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:12887480C>T	ENST00000535591.1	-	3	572	c.377G>A	c.(376-378)tGc>tAc	p.C126Y		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	126										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TAGAAGGAGGCAGGTGAGGTA	0.483000													9	428					0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70900209	70900209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:70900209C>T	ENST00000340941.6	+	6	667	c.538C>T	c.(538-540)Cga>Tga	p.R180*	MCCC2_ENST00000509358.2_Nonsense_Mutation_p.R180*|MCCC2_ENST00000323375.8_Nonsense_Mutation_p.R180*|MCCC2_ENST00000510895.2_3'UTR	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	180	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	ATACTTACCTCGACAAGCAGA	0.383000													8	67					0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41767615	41767615	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:41767615C>A	ENST00000394253.3	-	5	1952	c.1623G>T	c.(1621-1623)atG>atT	p.M541I	USP49_ENST00000373010.1_Missense_Mutation_p.M541I|USP49_ENST00000373009.3_Missense_Mutation_p.M541I|USP49_ENST00000373006.1_Missense_Mutation_p.M541I|USP49_ENST00000297229.2_Missense_Mutation_p.M541I			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	541					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTCTGTAGATCATTAACTGCT	0.488000													60	36					2.67592e-24	3.53936e-24	1	1	0
GALNTL5	168391	broad.mit.edu	37	7	151704947	151704947	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:151704947G>A	ENST00000392800.2	+	7	1198	c.944G>A	c.(943-945)cGt>cAt	p.R315H	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R315H|GALNTL5_ENST00000483959.1_3'UTR	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	315	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.R315P(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TTTGCTATACGTCGGCATTAT	0.338000													38	49					0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18637364	18637364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:18637364C>A	ENST00000336349.5	-	3	692	c.457G>T	c.(457-459)Gaa>Taa	p.E153*	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	153										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GGTTTGCTTTCAACTTTGGGA	0.463000													39	60					1.47197e-15	1.78369e-15	1	1	0
B3GALT1	8708	broad.mit.edu	37	2	168726367	168726367	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:168726367G>A	ENST00000392690.3	+	1	910	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.R273Q			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1						lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTGTGTCTTCGAAAGCTGGGC	0.468000													24	31					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43796747	43796747	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:43796747G>T	ENST00000291532.3	-	11	2052	c.1097C>A	c.(1096-1098)tCc>tAc	p.S366Y	TMPRSS3_ENST00000380399.1_Missense_Mutation_p.S450Y|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.S365Y|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.S363Y	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	366	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GATCTTGTTGGAAATCAAAGG	0.602000													106	156					1.56001e-33	2.16204e-33	1	1	0
PODN	127435	broad.mit.edu	37	1	53537230	53537230	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:53537230C>T	ENST00000371500.3	+	5	764	c.423C>T	c.(421-423)taC>taT	p.Y141Y	PODN_ENST00000395871.2_Intron|PODN_ENST00000471210.1_3'UTR|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Silent_p.Y160Y	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	112					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAAAGATCTACCCTGAGGAGC	0.627000													22	14					0	0	1	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263139	144263139	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:144263139C>T	ENST00000360537.2	-	5	2727	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	PLAGL1_ENST00000367572.1_Missense_Mutation_p.A220T|PLAGL1_ENST00000416623.1_Missense_Mutation_p.A272T|PLAGL1_ENST00000392309.1_Missense_Mutation_p.A272T|PLAGL1_ENST00000437412.1_Missense_Mutation_p.A220T|PLAGL1_ENST00000354765.2_Missense_Mutation_p.A272T|PLAGL1_ENST00000444202.1_Missense_Mutation_p.A272T|PLAGL1_ENST00000392307.1_Missense_Mutation_p.A220T|PLAGL1_ENST00000367571.1_Missense_Mutation_p.A272T|PLAGL1_ENST00000429150.1_Missense_Mutation_p.A272T			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	272			A -> V (in dbSNP:rs35263016).		cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		ATAGGCTGGGCGGCTTGTTCT	0.617000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	89					0	0	1	0	0
SLC46A2	57864	broad.mit.edu	37	9	115652725	115652725	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:115652725A>C	ENST00000374228.4	-	1	468	c.237T>G	c.(235-237)atT>atG	p.I79M		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	79						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GGTTGTAGATAATGTAGAAAT	0.612000													67	86					0	0	1	0	0
MIR526B	574468	broad.mit.edu	37	19	54197697	54197697	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:54197697G>T	ENST00000384848.1	+	0	51					NR_030190.1																						TGAAAGAAGAGAAAGTGCTTC	0.418000													26	19					9.39395e-14	1.10812e-13	1	1	0
DNAI1	27019	broad.mit.edu	37	9	34517424	34517424	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:34517424A>G	ENST00000242317.4	+	19	2131	c.1960A>G	c.(1960-1962)Atc>Gtc	p.I654V		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	654					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TGGGCACATCATCAGCCTCAA	0.552000									Kartagener syndrome				27	30					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75900457	75900457	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:75900457G>A	ENST00000377636.3	-	10	2255	c.1909C>T	c.(1909-1911)Cga>Tga	p.R637*	TBC1D4_ENST00000431480.2_Nonsense_Mutation_p.R637*|TBC1D4_ENST00000377625.2_Nonsense_Mutation_p.R637*|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	637						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCCCGTCTTCGAAACTGCGGG	0.592000													34	23					0	0	1	0	0
MAP10	54627	broad.mit.edu	37	1	232941170	232941170	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:232941170C>T	ENST00000418460.1	+	1	528	c.401C>T	c.(400-402)gCg>gTg	p.A134V		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		GCGGAGCCCGCGGCGGCGTTT	0.652000													16	21					0	0	1	0	0
B3GALT2	8707	broad.mit.edu	37	1	193150663	193150663	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:193150663G>A	ENST00000367434.4	-	2	785	c.30C>T	c.(28-30)tgC>tgT	p.C10C	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	10					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						TCTTTGCAAAGCAGCAGTGTC	0.378000													32	42					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046751	175046751	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:175046751G>T	ENST00000239462.4	+	2	310	c.197G>T	c.(196-198)aGt>aTt	p.S66I		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	66					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGCCCCTCAGTGACGATGGG	0.582000													10	42					1.76689e-08	1.94325e-08	1	1	0
CDH2	1000	broad.mit.edu	37	18	25532174	25532174	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:25532174G>A	ENST00000269141.3	-	16	3087	c.2664C>T	c.(2662-2664)aaC>aaT	p.N888N	CDH2_ENST00000399380.3_Silent_p.N857N	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	888					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCCCCAGTCGTTCAGGTAAT	0.473000													58	64					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75996951	75996951	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:75996951C>T	ENST00000274364.6	+	34	4715	c.4418C>T	c.(4417-4419)gCg>gTg	p.A1473V	IQGAP2_ENST00000379730.3_Missense_Mutation_p.A975V|IQGAP2_ENST00000502745.1_Missense_Mutation_p.A969V|IQGAP2_ENST00000396234.3_Missense_Mutation_p.A969V|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1473					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CCCAAAGGGGCGAAGAGAGCG	0.418000													28	53					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92442825	92442825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:92442825G>T	ENST00000370389.2	+	6	1549	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	BRDT_ENST00000399546.2_Nonsense_Mutation_p.E282*|BRDT_ENST00000362005.3_Nonsense_Mutation_p.E282*|BRDT_ENST00000402388.1_Nonsense_Mutation_p.E282*|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000394530.3_Nonsense_Mutation_p.E236*	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GATTCTTAAAGAAATGCTTGC	0.343000													38	49					4.65686e-17	5.75685e-17	1	1	0
CCDC129	223075	broad.mit.edu	37	7	31682707	31682707	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:31682707G>T	ENST00000319386.3	+	11	2272	c.1279G>T	c.(1279-1281)Gaa>Taa	p.E427*	CCDC129_ENST00000407970.3_Nonsense_Mutation_p.E575*|CCDC129_ENST00000451887.2_Nonsense_Mutation_p.E601*|CCDC129_ENST00000409210.1_Nonsense_Mutation_p.E483*			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	575										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCACGTCACAGAAATGCAGGA	0.498000													94	149					1.80868e-48	2.57081e-48	1	1	0
METAP2	10988	broad.mit.edu	37	12	95889872	95889872	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:95889872A>C	ENST00000323666.5	+	7	1094	c.865A>C	c.(865-867)Aag>Cag	p.K289Q	METAP2_ENST00000546753.1_Missense_Mutation_p.K266Q|METAP2_ENST00000550777.1_Missense_Mutation_p.K253Q|METAP2_ENST00000551840.1_Missense_Mutation_p.K288Q|METAP2_ENST00000261220.9_Missense_Mutation_p.K266Q	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	289					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	CACTGGAATAAAGGTATGTGA	0.328000													53	80					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521709	125521709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:125521709C>T	ENST00000431078.1	+	16	2879	c.2515C>T	c.(2515-2517)Cga>Tga	p.R839*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	839	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.R839*(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGACTTCATTCGACTCGAAAT	0.373000													24	32					0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130947485	130947485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:130947485G>T	ENST00000383366.4	+	15	1806	c.1513G>T	c.(1513-1515)Gaa>Taa	p.E505*	NEK11_ENST00000510688.1_Nonsense_Mutation_p.E505*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.E505*|NEK11_ENST00000412440.2_Nonsense_Mutation_p.E321*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.E505*|NEK11_ENST00000510769.1_Nonsense_Mutation_p.E400*	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	505					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ACCAGAGAAAGAAATCAGGAA	0.453000													34	40					5.90632e-09	6.53901e-09	1	1	0
SGOL2	151246	broad.mit.edu	37	2	201434523	201434523	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:201434523C>T	ENST00000357799.4	+	6	709	c.611C>T	c.(610-612)tCg>tTg	p.S204L	SGOL2_ENST00000409203.3_Missense_Mutation_p.S204L	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	204					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CAGGATAATTCGGAAGTGTTA	0.318000													33	11					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285978	238285978	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:238285978C>T	ENST00000295550.4	-	7	2959	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	COL6A3_ENST00000409809.1_Missense_Mutation_p.R630Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.R229Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.R630Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.R636Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.R635Q|COL6A3_ENST00000392004.3_Missense_Mutation_p.R630Q|COL6A3_ENST00000392003.2_Missense_Mutation_p.R429Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	836	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R836Q(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGAATGTCTCGCTTGCTCTC	0.478000													43	2					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48188859	48188859	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:48188859A>T	ENST00000418331.2	+	25	4311	c.3959A>T	c.(3958-3960)tAt>tTt	p.Y1320F		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1320					contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	p.Y1320S(1)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATGACAATCTATGAAAACCTT	0.428000													45	57					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65315030	65315030	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:65315030C>T	ENST00000301873.5	-	14	2255	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	LTBP3_ENST00000532932.1_Missense_Mutation_p.E93K|LTBP3_ENST00000536982.1_Missense_Mutation_p.E289K|LTBP3_ENST00000322147.4_Missense_Mutation_p.E663K	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	663	Cys-rich.|EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TTGGCGCATTCGTTCAGGTCT	0.657000													57	59					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42675106	42675106	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:42675106T>C	ENST00000232978.8	+	10	996	c.808T>C	c.(808-810)Tca>Cca	p.S270P	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	270					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAAAAAAGGTCAGTTGATTC	0.388000													50	79					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124829153	124829153	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:124829153A>C	ENST00000423114.2	-	9	1025	c.1026T>G	c.(1024-1026)ctT>ctG	p.L342L	SLC12A8_ENST00000393469.4_Silent_p.L313L|SLC12A8_ENST00000430155.2_Silent_p.L114L|SLC12A8_ENST00000314584.7_Silent_p.L66L|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000469902.1_Silent_p.L313L			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	313					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						ATAAGCCCAAAAGGAACAGGA	0.572000													9	64					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87407141	87407141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:87407141C>T	ENST00000338056.3	+	9	1288	c.877C>T	c.(877-879)Cga>Tga	p.R293*	RUNDC3B_ENST00000493037.1_Nonsense_Mutation_p.R276*|RUNDC3B_ENST00000394654.3_Nonsense_Mutation_p.R276*	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	293								p.R293*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CTTACGACTTCGAGAGAACCA	0.363000													14	10					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120770290	120770290	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:120770290A>C	ENST00000310396.5	+	12	1986	c.1519A>C	c.(1519-1521)Aat>Cat	p.N507H	CPED1_ENST00000450913.2_Missense_Mutation_p.N507H|CPED1_ENST00000423795.1_Missense_Mutation_p.N287H	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		GTCTCTTTTAAATGTATTTGA	0.378000													31	36					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77397335	77397335	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:77397335G>A	ENST00000451710.3	-	23	3389	c.3152C>T	c.(3151-3153)gCt>gTt	p.A1051V	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.A1051V|TRPM6_ENST00000376864.4_Missense_Mutation_p.A1051V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.A1046V|TRPM6_ENST00000361255.3_Missense_Mutation_p.A1046V			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1051					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAGGTAGACAGCTTGCAAGAA	0.328000													12	61					0	0	1	0	0
DKK3	27122	broad.mit.edu	37	11	12023906	12023906	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:12023906T>G	ENST00000396505.2	-	3	530	c.292A>C	c.(292-294)Acc>Ccc	p.T98P	DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Missense_Mutation_p.T98P|DKK3_ENST00000525493.1_Missense_Mutation_p.T98P|DKK3_ENST00000326932.4_Missense_Mutation_p.T98P	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	98					adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		TCTGTGTTGGTCTCATTGTGA	0.438000													15	18					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10166291	10166291	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:10166291C>T	ENST00000343090.6	+	7	921	c.846C>T	c.(844-846)ttC>ttT	p.F282F	UBE4B_ENST00000377157.3_Intron|UBE4B_ENST00000253251.8_Intron	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	282					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTCCCAGTTTCTGGAGCTCTG	0.507000													33	44					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328335	48328335	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:48328335T>C	ENST00000319988.1	+	1	561	c.561T>C	c.(559-561)tgT>tgC	p.C187C		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						AGTTGGCCTGTGCAGACACCT	0.468000													36	46					0	0	1	0	0
TRIM27	5987	broad.mit.edu	37	6	28876613	28876613	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:28876613T>G	ENST00000377199.3	-	6	1247	c.891A>C	c.(889-891)aaA>aaC	p.K297N	TRIM27_ENST00000377194.3_Missense_Mutation_p.K297N	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	297					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CTGACTGCATTTTTTCTAAGA	0.358000			T	RET	papillary thyroid								11	17					0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61869932	61869932	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:61869932C>T	ENST00000403491.3	+	8	1716	c.1232C>T	c.(1231-1233)gCt>gTt	p.A411V	NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371189.4_Missense_Mutation_p.A456V|NFIA_ENST00000371187.3_Missense_Mutation_p.A411V|NFIA_ENST00000371191.1_Missense_Mutation_p.A434V|NFIA_ENST00000357977.5_Missense_Mutation_p.A59V|NFIA_ENST00000407417.3_Missense_Mutation_p.A403V|NFIA_ENST00000371185.2_Missense_Mutation_p.A389V|NFIA_ENST00000485903.2_Missense_Mutation_p.A368V|NFIA_ENST00000371184.2_Missense_Mutation_p.A282V	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	411					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GGTCAGCAGGCTGGACAGGTG	0.468000													32	38					0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56007096	56007096	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:56007096C>A	ENST00000429591.2	+	4	728	c.690C>A	c.(688-690)atC>atA	p.I230I	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGGAAAAATCTTCAATCAAC	0.403000													30	36					9.39395e-14	1.10812e-13	1	1	0
ENAM	10117	broad.mit.edu	37	4	71510019	71510019	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:71510019C>A	ENST00000396073.3	+	9	3157	c.2876C>A	c.(2875-2877)tCt>tAt	p.S959Y	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	959					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACACCATGTTCTATAAAGAAT	0.438000													39	51					1.48646e-12	1.72708e-12	1	1	0
PDXDC2P	283970	broad.mit.edu	37	16	70010673	70010673	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:70010673C>A	ENST00000531894.1	-	0	3748					NR_003610.1																						CACACATATTCATTTGATGGA	0.483000													12	49					6.94344e-10	7.7891e-10	1	1	0
KNG1	3827	broad.mit.edu	37	3	186449367	186449367	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:186449367G>A	ENST00000265023.4	+	6	918	c.706G>A	c.(706-708)Gat>Aat	p.D236N	KNG1_ENST00000287611.2_Missense_Mutation_p.D236N|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.D200N	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	236	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TGCATACATCGATATTCAGCT	0.368000													13	22					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716561	39716561	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:39716561G>T	ENST00000553728.1	+	4	996	c.783G>T	c.(781-783)gaG>gaT	p.E261D	MIA2_ENST00000280082.3_Missense_Mutation_p.E261D|MIA2_ENST00000556784.1_Missense_Mutation_p.E260D																							TGGAAGATGAGAATGACCTAG	0.393000													26	36					3.6726e-16	4.49736e-16	1	1	0
SPANXN3	139067	broad.mit.edu	37	X	142596845	142596845	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:142596845C>A	ENST00000370503.2	-	2	308	c.225G>T	c.(223-225)gaG>gaT	p.E75D	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	75										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TGATGGAGTTCTCTTGGGACT	0.393000													60	9					2.93687e-30	4.02011e-30	1	1	0
CDH10	1008	broad.mit.edu	37	5	24593507	24593507	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:24593507C>T	ENST00000264463.4	-	2	600	c.93G>A	c.(91-93)gtG>gtA	p.V31V	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	31					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTTGCTGTGGCACAGGCGTCC	0.398000										HNSCC(23;0.051)			54	54					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875527	247875527	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:247875527G>T	ENST00000302084.2	-	1	578	c.531C>A	c.(529-531)ttC>ttA	p.F177L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F177L(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			TGTCACAGAAGAAGTGGTTGA	0.572000													63	83					1.31171e-36	1.83028e-36	1	1	0
NLRP9	338321	broad.mit.edu	37	19	56228108	56228108	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:56228108G>A	ENST00000332836.2	-	5	2343	c.2316C>T	c.(2314-2316)gcC>gcT	p.A772A		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	772						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCCTCTCCAGGGCACAGTGTG	0.532000													41	46					0	0	1	0	0
TP73-AS1	57212	broad.mit.edu	37	1	3662769	3662769	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:3662769C>A	ENST00000452079.1	-	0	1117				TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000544565.1_RNA	NR_033711.1																						AAGACACATTCACTTAAACAA	0.562000													14	20					4.3838e-07	4.73159e-07	1	1	0
ARAP2	116984	broad.mit.edu	37	4	36231150	36231150	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:36231150C>T	ENST00000303965.4	-	0	448					NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2						regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AAAAGTGGCACGATGAGACAC	0.348000													22	29					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42427048	42427048	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:42427048G>A	ENST00000053867.3	+	4	340	c.278G>A	c.(277-279)gGg>gAg	p.G93E	GRN_ENST00000589265.1_Missense_Mutation_p.G93E	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	93					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GTGGCATGCGGGGATGGCCAT	0.592000													30	26					0	0	1	0	0
MIR1269A	100302177	broad.mit.edu	37	4	67142562	67142562	+	RNA	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:67142562A>C	ENST00000408636.1	+	0	21					NR_031673.1																						agaccagggaagccagttggc	0.562000													59	66					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231120208	231120208	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:231120208C>T	ENST00000392045.3	+	12	1315	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	SP140_ENST00000417495.3_Missense_Mutation_p.R287C|SP140_ENST00000343805.6_Missense_Mutation_p.R341C|SP140_ENST00000486687.2_Missense_Mutation_p.R325C|SP140_ENST00000420434.3_Intron|SP140_ENST00000350136.5_Missense_Mutation_p.R270C	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	401					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGAGAAGAGCGCCAGGAAGC	0.527000													22	5					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201964	248201964	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:248201964C>T	ENST00000366479.2	+	1	491	c.395C>T	c.(394-396)cCc>cTc	p.P132L	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			CTCCACTATCCCATCCGTATA	0.433000													57	97					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15506558	15506558	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:15506558C>T	ENST00000380733.4	-	3	493		c.e3+1		PSIP1_ENST00000380738.4_Splice_Site|PSIP1_ENST00000380715.1_Splice_Site|PSIP1_ENST00000380716.4_Splice_Site|PSIP1_ENST00000397519.2_Splice_Site|PSIP1_ENST00000484265.1_5'UTR			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1						initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		ACAGGACTTACGTCTCATGAG	0.373000													23	24					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113668425	113668425	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:113668425C>T	ENST00000297405.5	-	18	3206	c.2962G>A	c.(2962-2964)Gac>Aac	p.D988N	CSMD3_ENST00000343508.3_Missense_Mutation_p.D948N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D884N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D988N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	988	CUB 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGACTGTTGTCTGTTGTAAAT	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	35					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116937882	116937882	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:116937882G>A	ENST00000537345.1	+	13	2174	c.1811G>A	c.(1810-1812)gGc>gAc	p.G604D	ATP1A1_ENST00000369496.4_Missense_Mutation_p.G573D|ATP1A1_ENST00000295598.5_Missense_Mutation_p.G604D	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	604					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GATGCCGTGGGCAAATGTCGA	0.512000													43	50					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16743410	16743410	+	Splice_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:16743410C>A	ENST00000381323.3	-	6	519		c.e6-1		FAM49A_ENST00000406434.1_Splice_Site|FAM49A_ENST00000355549.2_Splice_Site	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A							intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			AGAGCTTTTTCTGAAAATCAA	0.473000													22	33					1.55795e-14	1.85956e-14	1	1	0
PSD2	84249	broad.mit.edu	37	5	139217339	139217339	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:139217339G>A	ENST00000274710.3	+	12	2000	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	599	PH.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGACAGCCGACTGGAGGGT	0.612000													21	19					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	93007600	93007600	+	Silent	SNP	C	C	T	rs113311093		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:93007600C>T	ENST00000268164.3	+	6	1350	c.1113C>T	c.(1111-1113)tgC>tgT	p.C371C	ST8SIA2_ENST00000539113.1_Silent_p.C350C	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	371					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TCGGCCAGTGCGATGGGGCCA	0.597000													54	69					0	0	1	0	0
IGIP	492311	broad.mit.edu	37	5	139508204	139508204	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:139508204T>G	ENST00000333305.3	+	1	2684	c.143T>G	c.(142-144)tTt>tGt	p.F48C		NM_001007189.1	NP_001007190.1	A6NJ69	IGIP_HUMAN	IgA-inducing protein	48						extracellular region											CGGCTTGAGTTTGTTCAATAT	0.378000													39	34					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55241721	55241721	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:55241721C>T	ENST00000275493.2	+	18	2346	c.2169C>T	c.(2167-2169)ttC>ttT	p.F723F	EGFR_ENST00000454757.2_Silent_p.F670F|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.F678F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	723	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.F723F(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCGGTGCGTTCGGCACGGTGT	0.562000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			24	38					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83126562	83126562	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:83126562C>T	ENST00000329312.4	+	3	198	c.161C>T	c.(160-162)tCa>tTa	p.S54L		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	54				S -> G (in Ref. 3; CAA80457).	cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CCTTTGAAATCACAAATAACA	0.299000													10	3					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160663416	160663416	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:160663416A>C	ENST00000366953.3	-	8	1556	c.1298T>G	c.(1297-1299)aTt>aGt	p.I433S	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	433					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TGAGATAATAATTTTTAGCCA	0.438000													42	40					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128486893	128486893	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:128486893G>A	ENST00000325888.8	+	24	4483	c.4222G>A	c.(4222-4224)Gag>Aag	p.E1408K	FLNC_ENST00000346177.6_Missense_Mutation_p.E1408K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1408					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.E1408*(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGCACCGTGGAGTACATCCC	0.622000													26	36					0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45051838	45051838	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:45051838G>A	ENST00000558173.1	+	3	4947	c.202G>A	c.(202-204)Gac>Aac	p.D68N	TRIM69_ENST00000338264.4_Splice_Site_p.D113N|TRIM69_ENST00000559390.1_Splice_Site_p.D272N|TRIM69_ENST00000560442.1_Splice_Site_p.D68N|TRIM69_ENST00000558329.1_Splice_Site_p.D51N|TRIM69_ENST00000561043.1_Splice_Site_p.D35N|TRIM69_ENST00000329464.4_Splice_Site_p.D272N			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	272	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TTTCTTCTAGGACATCACAAC	0.408000													23	26					0	0	1	0	0
MAP3K7	6885	broad.mit.edu	37	6	91228169	91228169	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:91228169C>A	ENST00000369329.3	-	16	1798	c.1637G>T	c.(1636-1638)aGa>aTa	p.R546I	MAP3K7_ENST00000369320.1_Missense_Mutation_p.R200I|MAP3K7_ENST00000369332.3_Missense_Mutation_p.R519I|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000369325.3_Intron	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	546					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		aaCTTACTTTCTCTGTAATAA	0.269000													10	14					0.000442599	0.00045576	1	1	0
CHRNB1	1140	broad.mit.edu	37	17	7348685	7348685	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:7348685T>C	ENST00000306071.2	+	2	222	c.155T>C	c.(154-156)gTc>gCc	p.V52A	RP11-104H15.10_ENST00000575331.1_RNA	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	52					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GGAGACCGTGTCAGGGTCAGC	0.692000													8	11					0	0	1	0	0
AZI2	64343	broad.mit.edu	37	3	28382066	28382066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:28382066C>A	ENST00000479665.1	-	2	574	c.43G>T	c.(43-45)Gaa>Taa	p.E15*	AZI2_ENST00000457172.1_Nonsense_Mutation_p.E15*|AZI2_ENST00000334100.6_Nonsense_Mutation_p.E15*|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000420543.2_Nonsense_Mutation_p.E15*	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	15						mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TGGGCTTTTTCATGATTCAGA	0.348000													30	46					5.90632e-09	6.53901e-09	1	1	0
ZNF266	10781	broad.mit.edu	37	19	9523994	9523994	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9523994C>T	ENST00000592904.1	-	5	3683	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q	ZNF266_ENST00000592292.1_Missense_Mutation_p.R536Q|ZNF266_ENST00000590306.1_Missense_Mutation_p.R536Q|ZNF266_ENST00000588221.1_Missense_Mutation_p.R536Q|ZNF266_ENST00000588933.1_Missense_Mutation_p.R536Q|ZNF266_ENST00000361151.1_Missense_Mutation_p.R536Q|ZNF266_ENST00000361451.2_Missense_Mutation_p.R536Q			Q14584	ZN266_HUMAN	zinc finger protein 266	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R536Q(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTCATGATTTCGAAAGGAACT	0.438000													29	40					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29163030	29163030	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:29163030T>G	ENST00000321990.4	+	2	2309	c.1931T>G	c.(1930-1932)tTa>tGa	p.L644*	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	644					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ACAGCAGAATTAATAACAGTA	0.363000													42	38					0	0	1	0	0
OIP5	11339	broad.mit.edu	37	15	41605539	41605539	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:41605539T>C	ENST00000220514.3	-	4	585	c.526A>G	c.(526-528)Aca>Gca	p.T176A		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	176					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding			endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		ATGGCTTTTGTTTTTAAGAGA	0.294000													13	12					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196749323	196749323	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:196749323G>T	ENST00000312428.6	-	35	5849	c.5749C>A	c.(5749-5751)Caa>Aaa	p.Q1917K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1917					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTGACAAATTGATAATCATAA	0.438000													11	1					6.40141e-05	6.67685e-05	1	1	0
GLYAT	10249	broad.mit.edu	37	11	58491919	58491919	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:58491919G>T	ENST00000344743.3	-	2	192	c.51C>A	c.(49-51)tcC>tcA	p.S17S	GLYAT_ENST00000278400.3_Silent_p.S17S|GLYAT_ENST00000529732.1_Silent_p.S17S	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	17			S -> T (in dbSNP:rs10896818).		acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TCTTCCTCAAGGATTTCTCCA	0.448000													31	38					8.88839e-20	1.13456e-19	1	1	0
NRAP	4892	broad.mit.edu	37	10	115355398	115355398	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:115355398G>A	ENST00000369358.4	-	38	4788	c.4544C>T	c.(4543-4545)gCg>gTg	p.A1515V	NRAP_ENST00000360478.3_Missense_Mutation_p.A1472V|NRAP_ENST00000359988.3_Missense_Mutation_p.A1507V|NRAP_ENST00000369360.3_Missense_Mutation_p.A1480V			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1507						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGATGCAGCGCATTGAGGCG	0.468000													44	41					0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76928268	76928268	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:76928268G>T	ENST00000376217.2	-	17	1836	c.1586C>A	c.(1585-1587)cCt>cAt	p.P529H	GDPD4_ENST00000315938.4_3'UTR			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	529					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TAGAGTCCAAGGACCTTCCAC	0.463000													17	17					1.99824e-07	2.1695e-07	1	1	0
OTOF	9381	broad.mit.edu	37	2	26703155	26703155	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:26703155A>C	ENST00000272371.2	-	16	1954	c.1828T>G	c.(1828-1830)Ttc>Gtc	p.F610V	OTOF_ENST00000403946.3_Missense_Mutation_p.F610V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	610					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAGAAAGAATTCTTCCATT	0.562000													27	36					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71139679	71139679	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:71139679G>A	ENST00000448642.2	+	14	1587	c.1198G>A	c.(1198-1200)Gat>Aat	p.D400N	HK1_ENST00000359426.6_Missense_Mutation_p.D365N|HK1_ENST00000298649.3_Missense_Mutation_p.D364N|HK1_ENST00000360289.2_Missense_Mutation_p.D353N|HK1_ENST00000404387.2_Missense_Mutation_p.D369N|HK1_ENST00000494253.1_3'UTR			P19367	HXK1_HUMAN	hexokinase 1	365	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGAGCCGTCCGATGATGACTG	0.547000													54	85					0	0	1	0	0
NMNAT1	64802	broad.mit.edu	37	1	10032143	10032143	+	Silent	SNP	C	C	T	rs148490817		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:10032143C>T	ENST00000377205.1	+	2	156	c.12C>T	c.(10-12)tcC>tcT	p.S4S	NMNAT1_ENST00000492735.1_3'UTR|NMNAT1_ENST00000403197.1_Silent_p.S4S	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	4					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		TGGAAAATTCCGAGAAGACTG	0.403000													94	113					0	0	1	0	0
CD3E	916	broad.mit.edu	37	11	118184572	118184572	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:118184572C>T	ENST00000361763.4	+	7	794	c.503C>T	c.(502-504)gCt>gTt	p.A168V	CD3E_ENST00000528600.1_Missense_Mutation_p.A162V	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	168					G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	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;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GGAGCGGGTGCTGGCGGCAGG	0.602000													34	16					0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103568508	103568508	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:103568508G>A	ENST00000380069.3	+	2	524	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	150										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GGCGGCCTTCGAACAGCTTCT	0.662000													7	7					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32954971	32954971	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:32954971G>T	ENST00000399302.2	+	4	2115	c.1780G>T	c.(1780-1782)Gaa>Taa	p.E594*	QSER1_ENST00000527788.1_Nonsense_Mutation_p.E355*	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	594										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TAATGCTCAAGAATCAACTTA	0.408000													53	68					9.52127e-25	1.26311e-24	1	1	0
UPB1	51733	broad.mit.edu	37	22	24898112	24898112	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:24898112C>T	ENST00000413389.2	+	3	1684	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	UPB1_ENST00000326010.5_Missense_Mutation_p.R99C|UPB1_ENST00000382760.2_Missense_Mutation_p.R99C			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	99					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CCTTCATAGACGCATAAAGGC	0.403000													41	64					0	0	1	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596611	48596611	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:48596611G>T	ENST00000310248.2	-	1	559	c.465C>A	c.(463-465)atC>atA	p.I155I		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						AGATGCCATTGATCAGCCCAA	0.488000													9	13					2.74318e-10	3.09944e-10	1	1	0
LIFR	3977	broad.mit.edu	37	5	38506679	38506679	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:38506679A>C	ENST00000263409.4	-	8	1209	c.1047T>G	c.(1045-1047)atT>atG	p.I349M	LIFR_ENST00000453190.2_Missense_Mutation_p.I349M|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	349	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AACTACATATAATTTCTTTTA	0.378000			T	PLAG1	salivary adenoma								25	27					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113913351	113913351	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:113913351C>T	ENST00000348367.4	-	22	2641	c.2444G>A	c.(2443-2445)cGa>cAa	p.R815Q	GPAM_ENST00000423155.1_Missense_Mutation_p.R815Q			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	815					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AAGTTTTTGTCGGTTGCATTG	0.388000													50	84					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235967904	235967904	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:235967904A>G	ENST00000389794.3	-	7	3629	c.3455T>C	c.(3454-3456)aTt>aCt	p.I1152T	LYST_ENST00000389793.2_Missense_Mutation_p.I1152T|LYST_ENST00000536965.1_Missense_Mutation_p.I1152T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1152					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTGTGTTTCAATCACCTTTGA	0.363000													32	47					0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175330579	175330579	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:175330579A>C	ENST00000392552.2	-	7	1556	c.1318T>G	c.(1318-1320)Ttt>Gtt	p.F440V	GPR155_ENST00000295500.4_Missense_Mutation_p.F440V|GPR155_ENST00000392551.2_Missense_Mutation_p.F440V	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	440					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TGTCCAACAAAATTTTTTTCT	0.323000													9	16					0	0	1	0	0
CEP170P1	645455	broad.mit.edu	37	4	119475279	119475279	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:119475279C>A	ENST00000412784.2	+	0	990					NR_003135.2																						GTTGAAAAATCATTACCTGTG	0.398000													3	4					0.115264	0.115763	1	1	0
LRRCC1	85444	broad.mit.edu	37	8	86025226	86025226	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:86025226C>T	ENST00000414626.2	+	3	1265	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	LRRCC1_ENST00000360375.3_Missense_Mutation_p.R146C			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	146					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ACATAGTAATCGTATAGATAG	0.358000													22	38					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321292	79321292	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:79321292G>T	ENST00000428286.1	-	8	6021	c.4821C>A	c.(4819-4821)gtC>gtA	p.V1607V	PRUNE2_ENST00000376718.3_Silent_p.V1966V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1966					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GATGATCACAGACTGGCAGCA	0.458000													41	63					8.00217e-19	1.00959e-18	1	1	0
MIR99AHG	388815	broad.mit.edu	37	21	17962587	17962587	+	RNA	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:17962587A>C	ENST00000458468.1	+	0	579				MIR125B2_ENST00000385128.1_RNA	NR_027790.1																						TGAGACCCTAACTTGTGAGGT	0.443000													8	10					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837604	12837604	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:12837604G>C	ENST00000357726.4	+	3	1341	c.1314G>C	c.(1312-1314)aaG>aaC	p.K438N		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	438										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGATGAAGACACTGAGGG	0.557000													20	172					0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155491771	155491771	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:155491771T>G	ENST00000302068.4	+	8	1508	c.1445T>G	c.(1444-1446)aTg>aGg	p.M482R	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Missense_Mutation_p.M263R	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	482	Fibrinogen C-terminal.				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)	AAGATGAGTATGAAGATCAGG	0.423000													28	20					0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5838608	5838608	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:5838608C>A	ENST00000324989.7	-	10	1424	c.1336G>T	c.(1336-1338)Ggc>Tgc	p.G446C	CRMP1_ENST00000512574.1_Missense_Mutation_p.G330C|CRMP1_ENST00000397890.2_Missense_Mutation_p.G332C|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	332					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GGACAGTGGCCGCTGCCTGTG	0.552000													25	51					4.26978e-12	4.92127e-12	1	1	0
CECR5	27440	broad.mit.edu	37	22	17619241	17619241	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:17619241G>A	ENST00000336737.4	-	8	967	c.942C>T	c.(940-942)aaC>aaT	p.N314N	CECR5_ENST00000155674.5_Silent_p.N284N|CECR5_ENST00000399852.3_Silent_p.N114N	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	314							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CAGACATAGGGTTATCACTGG	0.557000													28	28					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21628898	21628898	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:21628898T>C	ENST00000328843.6	+	12	2077	c.2046T>C	c.(2044-2046)ttT>ttC	p.F682F	DNAH11_ENST00000409508.3_Silent_p.F682F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	682	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTGATCAATTTGAAAGTCGTA	0.333000									Kartagener syndrome				25	28					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71668172	71668172	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:71668172G>A	ENST00000567501.1	+	3	304	c.112G>A	c.(112-114)Ggg>Agg	p.G38R	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000268485.3_Silent_p.G224G			Q96A59	MALD3_HUMAN	MARVEL domain containing 3	0	Arg-rich.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GTTCCACAGGGGGCTACACGG	0.547000													76	106					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111980968	111980968	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:111980968C>T	ENST00000361822.3	+	11	1180	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	AC004112.4_ENST00000411413.1_RNA|AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	351						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						CAATTTTATTCGGAGGCAAGT	0.368000													52	60					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24261575	24261575	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:24261575C>T	ENST00000538205.1	+	14	1690	c.1143C>T	c.(1141-1143)tgC>tgT	p.C381C	ADAMDEC1_ENST00000256412.4_Silent_p.C460C|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.C381C|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	460	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GAACTGATTGCGGAGGAGATG	0.418000													20	21					0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42745164	42745164	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:42745164T>G	ENST00000409122.2	+	5	2027	c.1885T>G	c.(1885-1887)Tta>Gta	p.L629V	C17orf104_ENST00000409464.1_Missense_Mutation_p.L463V|C17orf104_ENST00000359945.3_Missense_Mutation_p.L629V	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	629										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TTTAGATGGCTTATCACAAAA	0.413000													13	19					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14876340	14876340	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:14876340C>T	ENST00000315576.3	-	9	1275	c.824G>A	c.(823-825)aGc>aAc	p.S275N	EMR2_ENST00000594076.1_Missense_Mutation_p.S182N|EMR2_ENST00000596991.2_Missense_Mutation_p.S275N|EMR2_ENST00000346057.1_Missense_Mutation_p.S226N|EMR2_ENST00000392965.3_Missense_Mutation_p.S275N|EMR2_ENST00000594294.1_Missense_Mutation_p.S226N|EMR2_ENST00000601345.1_Missense_Mutation_p.S275N|EMR2_ENST00000353005.1_Missense_Mutation_p.S133N|EMR2_ENST00000392967.2_Missense_Mutation_p.S275N|EMR2_ENST00000392964.3_Missense_Mutation_p.S14N|EMR2_ENST00000353876.1_Missense_Mutation_p.S182N|EMR2_ENST00000595839.1_Missense_Mutation_p.S133N	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	275					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						ACTCACCTGGCTGTGGACTCC	0.617000													15	45					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3990781	3990781	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:3990781G>A	ENST00000381638.2	-	14	2413	c.2289C>T	c.(2287-2289)ttC>ttT	p.F763F	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	763							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAAGACCCGCGAAGTCCAGAA	0.303000													27	25					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137263058	137263058	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:137263058C>A	ENST00000453654.2	-	16	1295	c.756G>T	c.(754-756)gaG>gaT	p.E252D	DGKI_ENST00000424189.2_Missense_Mutation_p.E552D|DGKI_ENST00000288490.5_Missense_Mutation_p.E552D|DGKI_ENST00000446122.1_Missense_Mutation_p.E552D			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGTTGAATTTCTCTGGATTTG	0.373000													22	26					1.08971e-26	1.46495e-26	1	1	0
EHBP1	23301	broad.mit.edu	37	2	63091923	63091923	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:63091923G>A	ENST00000263991.5	+	10	1402	c.920G>A	c.(919-921)aGc>aAc	p.S307N	EHBP1_ENST00000354487.3_Missense_Mutation_p.S272N|EHBP1_ENST00000405015.3_Missense_Mutation_p.S272N|EHBP1_ENST00000405289.1_Missense_Mutation_p.S272N|EHBP1_ENST00000431489.1_Missense_Mutation_p.S272N	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	307						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TATAATAACAGCTATAATCCC	0.363000													38	47					0	0	1	0	0
TMIGD1	388364	broad.mit.edu	37	17	28656532	28656532	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:28656532A>G	ENST00000328886.4	-	3	170	c.98T>C	c.(97-99)gTg>gCg	p.V33A	TMIGD1_ENST00000538566.2_Missense_Mutation_p.V33A	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	33	Ig-like C2-type 1.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TTTACCATTCACAGTTAAAAC	0.398000													22	27					0	0	1	0	0
LBX1	10660	broad.mit.edu	37	10	102987462	102987462	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:102987462G>T	ENST00000370193.2	-	2	1389	c.411C>A	c.(409-411)atC>atA	p.I137I		NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	137					muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		CCAATTCATAGATCTGGTGGT	0.587000													59	87					8.52529e-16	1.03779e-15	1	1	0
ABCA6	23460	broad.mit.edu	37	17	67081179	67081179	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:67081179C>T	ENST00000284425.2	-	32	4348	c.4174G>A	c.(4174-4176)Gcc>Acc	p.A1392T	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1392	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTTGCGATGGCGAGCCTCGCG	0.547000													11	18					0	0	1	0	0
P2RY1	5028	broad.mit.edu	37	3	152553912	152553912	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:152553912A>C	ENST00000305097.3	+	1	1177	c.341A>C	c.(340-342)aAa>aCa	p.K114T		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	114					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TACTTCAATAAAACAGACTGG	0.488000													34	44					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63817047	63817047	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:63817047G>T	ENST00000279873.7	+	6	1428	c.1018G>T	c.(1018-1020)Gaa>Taa	p.E340*	ARID5B_ENST00000309334.5_Nonsense_Mutation_p.E97*	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	340	ARID.				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AACGCCGATAGAACGAATACC	0.363000													47	69					1.00776e-21	1.30604e-21	1	1	0
LINGO2	158038	broad.mit.edu	37	9	27950487	27950487	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:27950487G>T	ENST00000379992.2	-	6	632	c.183C>A	c.(181-183)atC>atA	p.I61I	LINGO2_ENST00000308675.3_Silent_p.I61I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	61						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGAGGTCCAAGATTTTGGTTT	0.478000													62	73					6.3091e-27	8.488e-27	1	1	0
ZNF829	374899	broad.mit.edu	37	19	37383166	37383166	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:37383166C>A	ENST00000520965.1	-	6	836	c.770G>T	c.(769-771)aGa>aTa	p.R257I	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000391711.3_Missense_Mutation_p.R176I|ZNF345_ENST00000432005.2_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAATGAATTCTCTGATGTTG	0.373000													12	17					6.40141e-05	6.67685e-05	1	1	0
SLFN13	146857	broad.mit.edu	37	17	33771645	33771645	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:33771645T>A	ENST00000285013.6	-	3	1330	c.1055A>T	c.(1054-1056)gAc>gTc	p.D352V	SLFN13_ENST00000526861.1_Missense_Mutation_p.D352V|SLFN13_ENST00000533791.1_Missense_Mutation_p.D352V|SLFN13_ENST00000360502.2_Missense_Mutation_p.D34V|SLFN13_ENST00000542635.1_Missense_Mutation_p.D352V|SLFN13_ENST00000534689.1_Missense_Mutation_p.D34V	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	352						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGGATCTGCGTCCATCATTTT	0.483000													25	34					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43906167	43906167	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:43906167C>T	ENST00000562955.1	+	51	7083	c.7083C>T	c.(7081-7083)ggC>ggT	p.G2361G	SZT2_ENST00000372442.1_Silent_p.G1519G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2418						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCTCTGCAGGCCGAGCTAGCA	0.552000													74	79					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518089	8518089	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:8518089A>C	ENST00000381196.4	-	18	1845	c.1302T>G	c.(1300-1302)atT>atG	p.I434M	PTPRD_ENST00000358503.5_Missense_Mutation_p.I421M|PTPRD_ENST00000540109.1_Missense_Mutation_p.I434M|PTPRD_ENST00000360074.4_Missense_Mutation_p.I421M|PTPRD_ENST00000355233.5_Missense_Mutation_p.I434M|PTPRD_ENST00000397606.3_Missense_Mutation_p.I424M|PTPRD_ENST00000397611.3_Missense_Mutation_p.I431M|PTPRD_ENST00000537002.1_Missense_Mutation_p.I431M|PTPRD_ENST00000397617.3_Missense_Mutation_p.I424M|PTPRD_ENST00000356435.5_Missense_Mutation_p.I434M|PTPRD_ENST00000486161.1_Missense_Mutation_p.I434M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	434	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTGTACCAAAATGGTGGTCG	0.498000										TSP Lung(15;0.13)			73	95					0	0	1	0	0
SASH3	54440	broad.mit.edu	37	X	128926408	128926408	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:128926408G>A	ENST00000356892.3	+	5	661	c.547G>A	c.(547-549)Gac>Aac	p.D183N		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	183	SH3.									breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						AGTCCACACCGACTTCACTCC	0.622000													126	7					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481540	179481540	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179481540C>T	ENST00000589042.1	-	256	48300	c.48076G>A	c.(48076-48078)Gaa>Aaa	p.E16026K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E6961K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E7153K|TTN_ENST00000359218.5_Missense_Mutation_p.E7086K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E13458K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E14385K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14385							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)			TCTGAACGTTCACTTGGAGAA	0.398000													56	77					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82836803	82836803	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:82836803A>C	ENST00000265077.3	+	8	8546	c.7981A>C	c.(7981-7983)Agc>Cgc	p.S2661R	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.S1674R|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2661	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGAAGATAGAAGCCAACTAGA	0.453000													4	117					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16918561	16918561	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:16918561G>A	ENST00000524140.2	+	18	4319	c.3901G>A	c.(3901-3903)Gca>Aca	p.A1301T	NWD1_ENST00000552788.1_Missense_Mutation_p.A1301T|NWD1_ENST00000549814.1_Missense_Mutation_p.A1259T|NWD1_ENST00000523826.1_Missense_Mutation_p.A1095T|NWD1_ENST00000339803.6_Missense_Mutation_p.A1166T|NWD1_ENST00000379808.3_Missense_Mutation_p.A1301T	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1301							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGCCCGGAAAGCAATCAACTG	0.612000													46	66					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151140852	151140852	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:151140852G>A	ENST00000367328.1	+	13	1662	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	PLEKHG1_ENST00000358517.2_Silent_p.T450T	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	450					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGGGAGGGACGAAAGCACTGT	0.443000													95	120					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30506069	30506069	+	Silent	SNP	C	C	T	rs139818386		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:30506069C>T	ENST00000356798.6	+	13	1581	c.1401C>T	c.(1399-1401)gtC>gtT	p.V467V	ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Silent_p.V384V|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	467					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGTGTGGCGTCGACGTGGACC	0.587000													34	44					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5468469	5468469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:5468469G>T	ENST00000282908.5	+	10	1371	c.949G>T	c.(949-951)Gag>Tag	p.E317*	STK32B_ENST00000512636.1_Nonsense_Mutation_p.E240*|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Nonsense_Mutation_p.E270*	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	317							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TGAGCTTGAAGAGATGATTCT	0.468000													25	31					1.1804e-14	1.4124e-14	1	1	0
TDRKH	11022	broad.mit.edu	37	1	151751267	151751267	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:151751267G>A	ENST00000368822.1	-	6	1410	c.777C>T	c.(775-777)ggC>ggT	p.G259G	TDRKH_ENST00000368825.3_Silent_p.G214G|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000440583.2_Silent_p.G35G|TDRKH_ENST00000458431.2_Silent_p.G259G|TDRKH_ENST00000368824.3_Silent_p.G259G|TDRKH_ENST00000368827.6_Silent_p.G259G|TDRKH_ENST00000368823.1_Silent_p.G255G			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	259							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCCATGTCGCCTCCTCCTT	0.552000													45	50					0	0	1	0	0
SETDB2	83852	broad.mit.edu	37	13	50050683	50050683	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:50050683C>T	ENST00000354234.4	+	6	1283	c.377C>T	c.(376-378)tCg>tTg	p.S126L	SETDB2_ENST00000317257.8_Missense_Mutation_p.S138L|SETDB2_ENST00000258672.5_Missense_Mutation_p.S126L	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	138					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)		GACTCATCTTCGAATTTATCT	0.348000													54	82					0	0	1	0	0
MYEF2	50804	broad.mit.edu	37	15	48435151	48435151	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:48435151T>G	ENST00000324324.7	-	17	2036	c.1757A>C	c.(1756-1758)aAa>aCa	p.K586T	MYEF2_ENST00000267836.6_Missense_Mutation_p.K562T	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	586	RRM 3.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		GCCACTGATTTTTATGCCATT	0.388000													24	51					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190611118	190611118	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:190611118G>A	ENST00000520309.1	+	23	4158	c.4070G>A	c.(4069-4071)cGa>cAa	p.R1357Q	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.R1286Q|ANKAR_ENST00000313581.4_Missense_Mutation_p.R1357Q	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1357						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGGAGCACCGAAGAAAATTA	0.343000													61	234					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86469140	86469140	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:86469140C>A	ENST00000361669.2	+	4	3409	c.2310C>A	c.(2308-2310)ttC>ttA	p.F770L	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.F642L|GRM3_ENST00000546348.1_Missense_Mutation_p.F362L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	770					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AAGCTAAGTTCATAGGTTTTA	0.423000													53	54					2.69953e-25	3.59287e-25	1	1	0
PCSK2	5126	broad.mit.edu	37	20	17389978	17389978	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:17389978T>G	ENST00000262545.2	+	6	929	c.614T>G	c.(613-615)tTt>tGt	p.F205C	PCSK2_ENST00000536609.1_Missense_Mutation_p.F170C|PCSK2_ENST00000377899.1_Missense_Mutation_p.F186C	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	205	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATGACTGGTTTAACAGGTAA	0.448000													64	73					0	0	1	0	0
TUBB2B	347733	broad.mit.edu	37	6	3226446	3226446	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:3226446G>A	ENST00000259818.7	-	3	415	c.224C>T	c.(223-225)tCg>tTg	p.S75L	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	75					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.S75L(1)		kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				AGACCTAACCGAATCCATCGT	0.522000													23	29					0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949053	45949053	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:45949053C>T	ENST00000531526.1	+	11	1624	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R505C|GYLTL1B_ENST00000389968.3_Missense_Mutation_p.R232C|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R474C|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R474C|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R505C	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	505					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CAACCAGCTTCGCAACGTGGC	0.612000													80	88					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38840389	38840389	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:38840389G>A	ENST00000359357.3	+	48	6671	c.6417G>A	c.(6415-6417)acG>acA	p.T2139T	DNAH8_ENST00000441566.1_Silent_p.T2103T|DNAH8_ENST00000449981.2_Silent_p.T2356T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCGTTATCACGATTCTAATGA	0.443000													52	55					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530834	140530834	+	Silent	SNP	C	C	T	rs150891521	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140530834C>T	ENST00000231136.1	+	1	996	c.996C>T	c.(994-996)gtC>gtT	p.V332V	PCDHB6_ENST00000543635.1_Silent_p.V196V	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		332	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCTTTAGTCGTCAGGGTCC	0.473000													40	43					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6530165	6530165	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:6530165T>G	ENST00000254579.6	+	5	1540	c.976T>G	c.(976-978)Ttc>Gtc	p.F326V	DNHD1_ENST00000354685.3_Missense_Mutation_p.F326V|DNHD1_ENST00000527990.2_Missense_Mutation_p.F326V	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	326					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCACTACATCTTCTCTCCCTT	0.532000													40	53					0	0	1	0	0
DCAF10	79269	broad.mit.edu	37	9	37854962	37854962	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:37854962G>T	ENST00000242323.7	+	4	1111	c.1037G>T	c.(1036-1038)aGa>aTa	p.R346I	DCAF10_ENST00000377724.3_Missense_Mutation_p.R346I|DCAF10_ENST00000483167.1_3'UTR|RP11-613M10.9_ENST00000540557.1_Intron			Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	346						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						AGAGCAAGAAGAACTACTTCA	0.338000													27	48					8.4185e-14	9.95033e-14	1	1	0
MYO16	23026	broad.mit.edu	37	13	109753191	109753191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:109753191C>T	ENST00000356711.2	+	28	3454	c.3328C>T	c.(3328-3330)Cga>Tga	p.R1110*	MYO16_ENST00000357550.2_Nonsense_Mutation_p.R1110*|MYO16_ENST00000457511.2_Nonsense_Mutation_p.R622*	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1110	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			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)			AGCTGCCGAGCGATGTCGACT	0.438000													18	25					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68720768	68720768	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:68720768C>A	ENST00000303145.7	-	3	253	c.167G>T	c.(166-168)aGa>aTa	p.R56I	MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000411698.2_Missense_Mutation_p.R56I|MDM1_ENST00000430606.2_Missense_Mutation_p.R56I	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	56						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		AGGGACTCTTCTTTTTGAAAT	0.398000													30	29					5.77227e-19	7.29122e-19	1	1	0
GLI3	2737	broad.mit.edu	37	7	42004864	42004864	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:42004864G>A	ENST00000395925.3	-	15	3891	c.3807C>T	c.(3805-3807)gaC>gaT	p.D1269D	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1269					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CACAGGCACCGTCGAGTGCAC	0.617000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				37	36					0	0	1	0	0
NUP50	10762	broad.mit.edu	37	22	45574463	45574463	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:45574463A>C	ENST00000347635.4	+	5	1151	c.685A>C	c.(685-687)Aaa>Caa	p.K229Q	NUP50_ENST00000407019.2_Missense_Mutation_p.K201Q|NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000396096.2_Missense_Mutation_p.K201Q	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa		5 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGGCTCAACAAAATTACAGCA	0.423000													33	39					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047536	11047536	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:11047536G>T	ENST00000470054.1	-	0	718									B melanoma antigen family, member 2															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)		AAGACAAAAAGTATGATACCC	0.343000													34	438					4.10981e-09	4.56522e-09	1	1	0
ARHGAP28	79822	broad.mit.edu	37	18	6889954	6889954	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:6889954T>G	ENST00000419673.2	+	12	1344	c.1127T>G	c.(1126-1128)aTt>aGt	p.I376S	ARHGAP28_ENST00000531294.1_Missense_Mutation_p.I371S|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.I376S|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.I483S|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.I535S|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.I535S|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.I358S|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.I376S	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	358					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CTGTGGAACATTTCTACAGTG	0.398000													46	51					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68200795	68200795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:68200795C>T	ENST00000349223.5	+	5	1875	c.1651C>T	c.(1651-1653)Cga>Tga	p.R551*	NFATC3_ENST00000575270.1_Nonsense_Mutation_p.R551*|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Nonsense_Mutation_p.R551*|NFATC3_ENST00000329524.4_Nonsense_Mutation_p.R551*	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	551	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.R551*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TATAGAACTTCGAAAAGGAGA	0.343000													6	67					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89075721	89075721	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:89075721G>T	ENST00000251038.5	+	14	2204	c.1979G>T	c.(1978-1980)aGa>aTa	p.R660I	ZC3H14_ENST00000359301.3_Missense_Mutation_p.R495I|ZC3H14_ENST00000302216.8_Missense_Mutation_p.R504I|ZC3H14_ENST00000318308.6_Missense_Mutation_p.R231I|ZC3H14_ENST00000406216.3_Missense_Mutation_p.R206I|ZC3H14_ENST00000555755.1_Missense_Mutation_p.R655I|ZC3H14_ENST00000336693.4_Missense_Mutation_p.R495I|ZC3H14_ENST00000393514.5_Missense_Mutation_p.R635I|ZC3H14_ENST00000556945.1_Missense_Mutation_p.R529I|ZC3H14_ENST00000555900.1_Missense_Mutation_p.R362I|ZC3H14_ENST00000557607.1_Missense_Mutation_p.R349I	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	660						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GTGAGTAGAAGAATTCCAGTA	0.343000													28	39					1.26454e-06	1.35663e-06	1	1	0
ZNF560	147741	broad.mit.edu	37	19	9577428	9577428	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9577428C>T	ENST00000301480.4	-	10	2408	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R732Q(1)		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						AGTGTGAATTCGCACATGATT	0.398000													44	54					0	0	1	0	0
FBXO27	126433	broad.mit.edu	37	19	39517563	39517563	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:39517563A>G	ENST00000292853.4	-	5	774	c.655T>C	c.(655-657)Ttc>Ctc	p.F219L	FBXO27_ENST00000600828.1_Missense_Mutation_p.F218L|FBXO27_ENST00000509137.2_Missense_Mutation_p.F219L	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	219	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACAGCAGAGAATTTATCTAGA	0.562000													92	94					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13928280	13928280	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:13928280C>A	ENST00000265104.4	-	3	304	c.200G>T	c.(199-201)aGa>aTa	p.R67I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	67	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R67I(1)		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)					TTGATCAATTCTTTCAATCTG	0.318000									Kartagener syndrome				23	14					3.62473e-10	4.08079e-10	1	1	0
TAOK3	51347	broad.mit.edu	37	12	118651873	118651873	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:118651873G>A	ENST00000392533.3	-	10	1176	c.686C>T	c.(685-687)gCc>gTc	p.A229V	TAOK3_ENST00000419821.2_Missense_Mutation_p.A229V	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	229	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGATATAAGGCACTCATTGC	0.413000													20	37					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37649082	37649082	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:37649082T>C	ENST00000447079.4	+	4	2220	c.2187T>C	c.(2185-2187)atT>atC	p.I729I	CDK12_ENST00000430627.2_Silent_p.I729I	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	729	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGTTTGACATTATTGGGATTA	0.363000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			24	24					0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78533314	78533314	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:78533314G>A	ENST00000396137.4	+	1	1303	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	281					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GACCGAGCAGGAAATCGACAC	0.632000													59	71					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331969	107331969	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:107331969T>G	ENST00000335040.1	+	1	521	c.521T>G	c.(520-522)aTt>aGt	p.I174S		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AATAATGTCATTAAACATTTT	0.433000													54	47					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76917157	76917157	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:76917157G>T	ENST00000409709.3	+	41	5924	c.5652G>T	c.(5650-5652)aaG>aaT	p.K1884N	MYO7A_ENST00000458637.2_Missense_Mutation_p.K1846N|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Missense_Mutation_p.K1835N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1884	MyTH4 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGTCCCGGAAGTACCCTCCGC	0.607000													8	13					0.000157383	0.000162881	1	1	0
ATP6V1B2	526	broad.mit.edu	37	8	20077858	20077858	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:20077858G>T	ENST00000276390.2	+	14	1521	c.1481G>T	c.(1480-1482)aGa>aTa	p.R494I		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	494					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		ATGCTGAAGAGAATCCCTCAG	0.463000													33	60					4.31634e-10	4.85633e-10	1	1	0
FAM179B	23116	broad.mit.edu	37	14	45432826	45432826	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:45432826A>C	ENST00000361462.2	+	1	1385	c.1202A>C	c.(1201-1203)aAt>aCt	p.N401T	FAM179B_ENST00000382233.2_Missense_Mutation_p.N401T|FAM179B_ENST00000361577.3_Missense_Mutation_p.N401T			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	401							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTGCTATATAATTTGTTAGAC	0.443000													60	49					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33110633	33110633	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:33110633C>A	ENST00000267068.3	-	2	696	c.532G>T	c.(532-534)Gaa>Taa	p.E178*	N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000446957.2_Nonsense_Mutation_p.E178*|N4BP2L2_ENST00000504114.1_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	178										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCTTCAATTTCTTTGTAAAAC	0.313000													21	35					1.40151e-16	1.72377e-16	1	1	0
CLIC2	1193	broad.mit.edu	37	X	154508587	154508587	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:154508587G>A	ENST00000369449.2	-	5	651	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	145	C-terminal.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCATCCAGACGCTTGAATTCT	0.383000													35	5					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184633239	184633239	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:184633239G>T	ENST00000437079.3	+	28	2530	c.2359G>T	c.(2359-2361)Gaa>Taa	p.E787*	VPS8_ENST00000446204.2_Nonsense_Mutation_p.E695*|VPS8_ENST00000436792.2_Nonsense_Mutation_p.E785*|VPS8_ENST00000287546.4_Nonsense_Mutation_p.E787*	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	787							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGACACAAGAGAATTTCTAAA	0.398000													14	17					0.000151284	0.000156812	1	1	0
DCC	1630	broad.mit.edu	37	18	50985606	50985606	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:50985606C>T	ENST00000442544.2	+	24	4013	c.3397C>T	c.(3397-3399)Cgg>Tgg	p.R1133W	DCC_ENST00000581580.1_Missense_Mutation_p.R768W	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1133					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)		CCATAGGAAACGGGCCACCCA	0.443000													26	26					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149440456	149440456	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:149440456G>A	ENST00000286301.3	-	14	2229	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	646	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GAAGGTTGACGATGTTCTCGT	0.617000													8	15					0	0	1	0	0
SYTL5	94122	broad.mit.edu	37	X	37935923	37935923	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:37935923C>T	ENST00000357972.5	+	6	1204	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	SYTL5_ENST00000297875.2_Missense_Mutation_p.R220W|SYTL5_ENST00000456733.2_Missense_Mutation_p.R220W|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	220					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TCAACATTTTCGGAGTTTAAA	0.438000													50	5					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180349284	180349284	+	Missense_Mutation	SNP	C	C	A	rs111451119		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:180349284C>A	ENST00000273654.4	-	20	2842	c.2223G>T	c.(2221-2223)gaG>gaT	p.E741D	CCDC39_ENST00000442201.2_Missense_Mutation_p.E657D			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	657					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CCTGTGTTTTCTCCTCTTCTC	0.353000													33	39					1.61788e-16	1.98668e-16	1	1	0
ZNF479	90827	broad.mit.edu	37	7	57188172	57188172	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:57188172C>T	ENST00000331162.4	-	5	1220	c.950G>A	c.(949-951)aGa>aAa	p.R317K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAATTCTCTTGTGGTC	0.438000													24	30					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140261940	140261940	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140261940C>A	ENST00000289272.2	+	1	87	c.87C>A	c.(85-87)ggC>ggA	p.G29G	PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.G29G|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGTAGTGGCCAGCTCCACT	0.642000													105	117					7.34945e-47	1.04296e-46	1	1	0
FAM49A	81553	broad.mit.edu	37	2	16743290	16743290	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:16743290G>A	ENST00000381323.3	-	6	638	c.418C>T	c.(418-420)Cga>Tga	p.R140*	FAM49A_ENST00000406434.1_Nonsense_Mutation_p.R140*|FAM49A_ENST00000355549.2_Nonsense_Mutation_p.R140*	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	140						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TCATCGAATCGAAGGGTAAAA	0.443000													24	26					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40752719	40752719	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:40752719T>A	ENST00000381782.2	+	2	504	c.9T>A	c.(7-9)aaT>aaA	p.N3K	NSUN7_ENST00000316607.5_Missense_Mutation_p.N3K	NM_024677.4	NP_078953			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ACATGCTGAATTCCACGGGCG	0.557000													42	49					0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99662125	99662125	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:99662125G>A	ENST00000292450.4	+	4	1471	c.1307G>A	c.(1306-1308)aGa>aAa	p.R436K	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E402K|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E402K|ZNF3_ENST00000413658.2_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	436					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AAACACCACAGAATCCACACC	0.502000													47	53					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113353781	113353781	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:113353781T>C	ENST00000297405.5	-	42	6821	c.6577A>G	c.(6577-6579)Acc>Gcc	p.T2193A	CSMD3_ENST00000343508.3_Missense_Mutation_p.T2153A|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2089A|CSMD3_ENST00000352409.3_Missense_Mutation_p.T2123A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2193	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCATGGGTGGTGCTGAATAAG	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	49					0	0	1	0	0
NTSR2	23620	broad.mit.edu	37	2	11809716	11809716	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:11809716G>A	ENST00000306928.5	-	1	574	c.540C>T	c.(538-540)ctC>ctT	p.L180L		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	180					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CCGCCGTCTCGAGTTCGTGCT	0.706000													12	13					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702465	27702465	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:27702465G>A	ENST00000438700.3	-	1	832	c.715C>T	c.(715-717)Ctg>Ttg	p.L239L		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	239					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCCACGCGCAGATCCTGCACC	0.622000													33	39					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12938895	12938895	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:12938895T>G	ENST00000218032.6	+	2	1823	c.1736T>G	c.(1735-1737)tTt>tGt	p.F579C	TLR8_ENST00000311912.5_Missense_Mutation_p.F597C	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	579					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CATCTAGAATTTATTCAAAAT	0.338000													39	1					0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894228	78894228	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:78894228G>A	ENST00000326828.5	-	5	1140	c.756C>T	c.(754-756)tgC>tgT	p.C252C	CHRNA3_ENST00000348639.3_Silent_p.C252C	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	252					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGATGAGCAGGCAGGGGATGA	0.562000													18	30					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732369	152732369	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:152732369C>A	ENST00000368773.1	+	2	363	c.305C>A	c.(304-306)tCt>tAt	p.S102Y	KPRP_ENST00000606109.1_Missense_Mutation_p.S102Y	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	102	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCATCCCAATCTCAAACTTCC	0.532000													136	158					1.84813e-57	2.64664e-57	1	1	0
UBE3C	9690	broad.mit.edu	37	7	156961752	156961752	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:156961752G>A	ENST00000348165.5	+	3	491	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	UBE3C_ENST00000389103.4_Intron	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	44	Cis-determinant of acceptor ubiquitin- binding.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GAAGAAAGGCGAAGGTTGAAA	0.353000													29	27					0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187130377	187130377	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:187130377C>T	ENST00000378802.4	+	10	1660	c.1356C>T	c.(1354-1356)cgC>cgT	p.R452R	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	452					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		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;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CACAAGGGCGCCATCCATATG	0.542000													63	56					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089047	57089047	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:57089047G>A	ENST00000330619.8	+	6	1936	c.1250G>A	c.(1249-1251)aGa>aAa	p.R417K	ZNF470_ENST00000391709.3_Missense_Mutation_p.R417K|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R417I(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CAGCATAAGAGAACTCATACT	0.418000													38	39					0	0	1	0	0
MTERFD1	51001	broad.mit.edu	37	8	97256283	97256283	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:97256283T>G	ENST00000523821.1	-	7	1042	c.923A>C	c.(922-924)aAa>aCa	p.K308T	MTERFD1_ENST00000522822.1_Missense_Mutation_p.K187T|MTERFD1_ENST00000524341.1_Intron|MTERFD1_ENST00000287025.3_Missense_Mutation_p.K308T			Q96E29	MTER1_HUMAN	MTERF domain containing 1	308					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TTCGTTATGTTTAAAACCAAG	0.333000													32	27					0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874581	74874581	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:74874581C>T	ENST00000331628.3	-	3	776	c.529G>A	c.(529-531)Ggc>Agc	p.G177S	SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.G177S	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	177					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GCAGCAATGCCCAGTGGCCAG	0.592000													19	18					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068961	9068961	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9068961G>T	ENST00000397910.4	-	3	18688	c.18485C>A	c.(18484-18486)tCt>tAt	p.S6162Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6164	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						TGTCACCCCAGAAGGACCTGT	0.493000													18	44					1.99824e-07	2.1695e-07	1	1	0
PSAT1	29968	broad.mit.edu	37	9	80943026	80943026	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:80943026C>T	ENST00000376588.3	+	8	997	c.929C>T	c.(928-930)gCc>gTc	p.A310V	PSAT1_ENST00000347159.2_Intron	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	310					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	ATTGGCAATGCCAAAGGAGAT	0.383000													23	24					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121192275	121192275	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:121192275C>A	ENST00000264233.5	-	21	6593	c.6465G>T	c.(6463-6465)aaG>aaT	p.K2155N		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2155					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCAGAGTTTTCTTGCTGCCTT	0.428000								DNA polymerases (catalytic subunits)					95	108					3.29639e-60	4.72698e-60	1	1	0
ABLIM1	3983	broad.mit.edu	37	10	116197663	116197663	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:116197663G>T	ENST00000533213.2	-	22	2284	c.1983C>A	c.(1981-1983)ctC>ctA	p.L661L	ABLIM1_ENST00000392952.3_Silent_p.L398L|ABLIM1_ENST00000277895.5_Silent_p.L721L|ABLIM1_ENST00000369252.4_Silent_p.L661L|ABLIM1_ENST00000369266.3_Silent_p.L398L|ABLIM1_ENST00000369253.2_Silent_p.L344L			O14639	ABLM1_HUMAN	actin binding LIM protein 1	721					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TGGTCACCATGAGCATTTCAT	0.428000													24	40					1.50538e-07	1.63707e-07	1	1	0
CASKIN1	57524	broad.mit.edu	37	16	2237446	2237446	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:2237446C>T	ENST00000343516.6	-	7	726	c.634G>A	c.(634-636)Ggc>Agc	p.G212S		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	212					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						ATGTCGATGCCGGCTTGGAGG	0.672000													28	30					0	0	1	0	0
ANXA1	301	broad.mit.edu	37	9	75775776	75775776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:75775776G>T	ENST00000376911.1	+	5	1324	c.442G>T	c.(442-444)Gaa>Taa	p.E148*	ANXA1_ENST00000257497.6_Nonsense_Mutation_p.E148*			P04083	ANXA1_HUMAN	annexin A1	148					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AACTAACAAAGAAATCAGAGA	0.328000													54	76					6.60958e-23	8.66918e-23	1	1	0
GYPA	2993	broad.mit.edu	37	4	145041742	145041742	+	Splice_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:145041742C>A	ENST00000360771.4	-	2	153		c.e2-1		GYPA_ENST00000535709.1_Splice_Site|GYPA_ENST00000503627.1_Splice_Site|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000324022.10_Intron|GYPA_ENST00000504786.1_Splice_Site|GYPA_ENST00000512064.1_Splice_Site|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Intron	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)						interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					CTCACAATTTCTGTATAAAAT	0.413000													12	4					1.49906e-05	1.57744e-05	1	1	0
GPATCH3	63906	broad.mit.edu	37	1	27217667	27217667	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:27217667C>A	ENST00000361720.5	-	7	1435	c.1412G>T	c.(1411-1413)aGa>aTa	p.R471I		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	471						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CAAGCCATTTCTACGGGGCCT	0.542000													22	16					9.95505e-16	1.21017e-15	1	1	0
ARIH2OS	646450	broad.mit.edu	37	3	48955964	48955964	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:48955964G>A	ENST00000408959.2	-	1	854	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W		NM_001123040.1	NP_001116512.1			ariadne homolog 2 opposite strand																		GATAGCGGCCGAGAAACAATG	0.607000													51	69					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61315524	61315524	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:61315524G>T	ENST00000402291.1	+	10	1250	c.1009G>T	c.(1009-1011)Gaa>Taa	p.E337*	KIAA1841_ENST00000453873.1_Nonsense_Mutation_p.E337*|KIAA1841_ENST00000295031.5_Nonsense_Mutation_p.E337*|KIAA1841_ENST00000356719.2_Nonsense_Mutation_p.E337*|KIAA1841_ENST00000482513.1_3'UTR	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	337										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TTTAACAAAAGAAACAGAAAG	0.299000													7	18					0.0381472	0.0384065	1	1	0
LRPPRC	10128	broad.mit.edu	37	2	44176792	44176792	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:44176792C>A	ENST00000260665.7	-	16	1741	c.1684G>T	c.(1684-1686)Gaa>Taa	p.E562*		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	562					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TACAACAATTCTGTTATCTGG	0.388000													21	20					3.62473e-10	4.08079e-10	1	1	0
BHMT2	23743	broad.mit.edu	37	5	78379147	78379147	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:78379147C>T	ENST00000255192.3	+	6	797	c.731C>T	c.(730-732)gCg>gTg	p.A244V	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Missense_Mutation_p.A180V	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	244	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGGTTCCACGCGCCTGACTGT	0.552000													30	44					0	0	1	0	0
NUDT6	11162	broad.mit.edu	37	4	123814221	123814221	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:123814221A>C	ENST00000304430.5	-	5	746	c.713T>G	c.(712-714)tTt>tGt	p.F238C	NUDT6_ENST00000339154.2_Missense_Mutation_p.F69C|NUDT6_ENST00000502270.1_Missense_Mutation_p.F69C|FGF2_ENST00000264498.3_3'UTR|FGF2_ENST00000608478.1_3'UTR	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	238	Nudix hydrolase.					mitochondrion|nucleus	growth factor activity|hydrolase activity			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						TTCCTGGCAAAAATTTATGGT	0.448000													50	40					0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109294665	109294665	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:109294665G>A	ENST00000392644.4	+	18	2720	c.2552G>A	c.(2551-2553)cGa>cAa	p.R851Q	ARMC2_ENST00000368972.3_Missense_Mutation_p.R686Q	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	851							binding	p.R844Q(1)|p.R844P(1)		endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CTTCTAAACCGAATTCAGAGA	0.448000													83	79					0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95303343	95303343	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:95303343A>C	ENST00000271227.6	+	6	688	c.586A>C	c.(586-588)Aat>Cat	p.N196H	SLC44A3_ENST00000527077.1_Missense_Mutation_p.N128H|SLC44A3_ENST00000529450.1_Missense_Mutation_p.N164H|SLC44A3_ENST00000530397.1_3'UTR|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000532427.1_Missense_Mutation_p.N116H|SLC44A3_ENST00000467909.1_Missense_Mutation_p.N148H|SLC44A3_ENST00000446120.2_Missense_Mutation_p.N160H	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	196						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)	TGTTTTGATAAATGATGTTGA	0.403000													46	59					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32750012	32750012	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:32750012A>C	ENST00000421745.2	+	58	11815	c.11681A>C	c.(11680-11682)aAa>aCa	p.K3894T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3894					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAAGAAAAGAAAAACCATGAA	0.294000													7	4					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35813773	35813773	+	Missense_Mutation	SNP	G	G	A	rs149623832		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:35813773G>A	ENST00000216122.4	+	13	1781	c.1627G>A	c.(1627-1629)Gca>Aca	p.A543T	MCM5_ENST00000382011.5_Missense_Mutation_p.A500T	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	543					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GCACGTGAGCGCACTGACACA	0.587000													70	104					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121438965	121438965	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:121438965C>A	ENST00000257555.6	+	10	2092	c.1866C>A	c.(1864-1866)atC>atA	p.I622I	HNF1A_ENST00000544413.1_Silent_p.I629I|HNF1A_ENST00000541395.1_Silent_p.I653I|RP11-216P16.2_ENST00000606238.1_RNA			P20823	HNF1A_HUMAN	HNF1 homeobox A	622					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGACCTTCATCTCCACCCAGA	0.637000									Hepatic Adenoma, Familial Clustering of				12	21					1.08611e-07	1.18329e-07	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63174447	63174447	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:63174447C>T	ENST00000322893.7	-	11	3014	c.2746G>A	c.(2746-2748)Gaa>Aaa	p.E916K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	916	CAD (involved in subunit assembly) (By similarity).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.E916K(3)		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)		TCTTTGAGTTCGTGTTTGACT	0.507000													76	93					0	0	1	0	0
CGRRF1	10668	broad.mit.edu	37	14	54997667	54997667	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:54997667G>T	ENST00000216420.7	+	4	601	c.469G>T	c.(469-471)Gat>Tat	p.D157Y	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	157					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						GTTACCAAGAGATACTAAAAT	0.338000													12	14					1.61879e-10	1.83252e-10	1	1	0
RAB6A	5870	broad.mit.edu	37	11	73427320	73427320	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:73427320T>G	ENST00000310653.6	-	5	878	c.377A>C	c.(376-378)aAt>aCt	p.N126T	RAB6A_ENST00000541588.1_Intron|RAB6A_ENST00000536566.1_Missense_Mutation_p.N93T|RAB6A_ENST00000336083.3_Missense_Mutation_p.N126T	NM_001077637.1|NM_002869.4	NP_001071105.1|NP_002860.2	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	126					minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding			large_intestine(2)|lung(2)	4						ATCTGTTTTATTTCCTACTAG	0.348000													27	28					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635228	33635228	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:33635228G>A	ENST00000380099.3	+	4	2020	c.2012G>A	c.(2011-2013)cGa>cAa	p.R671Q	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	671	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GAGTATGCCCGACTGTGCTTT	0.577000													34	32					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33616057	33616057	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:33616057G>T	ENST00000170564.2	+	18	2882	c.2568G>T	c.(2566-2568)aaG>aaT	p.K856N		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	856						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AACATAAAAAGAACAAAGACA	0.453000													4	15					3.59834e-05	3.7679e-05	1	1	0
COL21A1	81578	broad.mit.edu	37	6	55925754	55925754	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:55925754C>T	ENST00000244728.5	-	26	2684	c.2287G>A	c.(2287-2289)Gca>Aca	p.A763T	COL21A1_ENST00000370819.1_Missense_Mutation_p.A760T|COL21A1_ENST00000535941.1_Missense_Mutation_p.A763T|COL21A1_ENST00000370808.2_Missense_Mutation_p.A163T|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	763	Collagen-like 5.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTAGGACCTGCGGGCCCCATC	0.512000													18	17					0	0	1	0	0
PIH1D2	120379	broad.mit.edu	37	11	111941990	111941990	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:111941990C>A	ENST00000530641.1	-	4	644	c.319G>T	c.(319-321)Gat>Tat	p.D107Y	PIH1D2_ENST00000431456.1_Missense_Mutation_p.D107Y|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000280350.4_Missense_Mutation_p.D107Y|PIH1D2_ENST00000528775.1_Missense_Mutation_p.D107Y|PIH1D2_ENST00000532211.1_Missense_Mutation_p.D107Y			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	107										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TAGGCAACATCAATGACTGTG	0.348000													50	61					5.13769e-22	6.67787e-22	1	1	0
MYBPC2	4606	broad.mit.edu	37	19	50967746	50967746	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:50967746C>T	ENST00000357701.5	+	27	3423	c.3372C>T	c.(3370-3372)aaC>aaT	p.N1124N		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1124	Ig-like C2-type 7.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GGGCCGTCAACGAGCTGGGCG	0.642000													19	17					0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4891357	4891357	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:4891357G>A	ENST00000381781.2	-	3	729	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	244					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CTGTCCAGCCGAGACCGCCGC	0.592000													7	13					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232629350	232629350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:232629350G>A	ENST00000366630.1	-	3	1898	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R514W			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	514					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCTCTCTCCGGATGCTGACT	0.468000													101	131					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52498091	52498091	+	Splice_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:52498091C>A	ENST00000602063.1	-	6	588		c.e6-1		ZNF615_ENST00000391795.3_Splice_Site|ZNF615_ENST00000594083.1_Splice_Site|ZNF615_ENST00000376716.5_Splice_Site|ZNF615_ENST00000598071.1_Splice_Site			Q8N8J6	ZN615_HUMAN	zinc finger protein 615						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTCCTGATTTCTAGGAAAGAA	0.338000													16	23					1.67942e-08	1.84819e-08	1	1	0
SLIT1	6585	broad.mit.edu	37	10	98762716	98762716	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:98762716C>T	ENST00000266058.4	-	35	4144	c.3899G>A	c.(3898-3900)cGc>cAc	p.R1300H	SLIT1_ENST00000371070.4_Missense_Mutation_p.R1300H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1300	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGCCACAGGCGGAAGGCAGC	0.607000													91	110					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15655712	15655712	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:15655712G>T	ENST00000378076.3	-	15	1853	c.1500C>A	c.(1498-1500)atC>atA	p.I500I		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	500					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTTCAAGATTGATAATCATTG	0.453000													67	81					9.65139e-37	1.34705e-36	1	1	0
FAN1	22909	broad.mit.edu	37	15	31197389	31197389	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:31197389G>T	ENST00000362065.4	+	2	814	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	FAN1_ENST00000561607.1_Nonsense_Mutation_p.E175*|FAN1_ENST00000561594.1_Nonsense_Mutation_p.E175*|FAN1_ENST00000565466.1_Nonsense_Mutation_p.E175*	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	175					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TAAGGATGAAGAATTTGCCGG	0.378000								Direct reversal of damage					24	33					3.28513e-13	3.84286e-13	1	1	0
ALG10B	144245	broad.mit.edu	37	12	38714053	38714053	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:38714053G>T	ENST00000308742.4	+	3	776	c.460G>T	c.(460-462)Gca>Tca	p.A154S	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	154					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTATACAGAAGCAGGATCTAT	0.353000													56	84					7.77372e-23	1.01886e-22	1	1	0
MALAT1	378938	broad.mit.edu	37	11	65266183	65266183	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:65266183G>T	ENST00000534336.1	+	0	951					NR_002819.2																						TCCCTCAAGAGAACACAAGAA	0.393000													92	91					1.37074e-43	1.93647e-43	1	1	0
KIAA1033	23325	broad.mit.edu	37	12	105536928	105536928	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:105536928C>T	ENST00000332180.5	+	20	2004	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	639					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CTTTGCGCGACTGTGTACCTG	0.333000													5	11					0	0	1	0	0
BEX1	55859	broad.mit.edu	37	X	102317963	102317963	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:102317963C>A	ENST00000372728.3	-	3	479	c.240G>T	c.(238-240)gaG>gaT	p.E80D		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	80					cell differentiation|nervous system development	cytoplasm|nucleus				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						TTTCCATATTCTCTTCTCTCA	0.527000													115	14					5.1993e-48	7.38228e-48	1	1	0
ANGPTL7	10218	broad.mit.edu	37	1	11249684	11249684	+	Silent	SNP	C	C	T	rs150198909		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:11249684C>T	ENST00000376819.3	+	1	287	c.48C>T	c.(46-48)atC>atT	p.I16I	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	16					response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GCATTTTCATCGTGGCCTTTG	0.552000													75	54					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157011	155157011	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:155157011G>A	ENST00000357232.4	-	25	7427	c.7428C>T	c.(7426-7428)acC>acT	p.T2476T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TATTTCCATTGGTTTTATTTA	0.378000													38	52					0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242793369	242793369	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:242793369C>T	ENST00000334409.5	-	5	777	c.708G>A	c.(706-708)gaG>gaA	p.E236E		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	236					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GCACGGGGGGCTCCGGGGTCT	0.622000													31	3					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86939149	86939149	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:86939149G>A	ENST00000234701.3	+	3	563	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	CLCA1_ENST00000394711.1_Missense_Mutation_p.R71Q			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	71					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	p.R71P(1)		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)		ACAGGAAAGCGATTTTATTTC	0.358000													24	25					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113504848	113504848	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:113504848A>C	ENST00000297405.5	-	31	5392	c.5148T>G	c.(5146-5148)gaT>gaG	p.D1716E	CSMD3_ENST00000343508.3_Missense_Mutation_p.D1676E|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1612E|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1716E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1716	Sushi 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTAATTTATAATCCATTCCAA	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	77					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167542311	167542311	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:167542311G>A	ENST00000295777.5	+	8	1548	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Missense_Mutation_p.D373N	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	373					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AGTTATTGTCGACCATCCATT	0.323000													18	25					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097732	43097732	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:43097732G>T	ENST00000244336.5	-	2	486	c.385C>A	c.(385-387)Ctt>Att	p.L129I	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	129	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TCACTCATAAGATTTAGCTTT	0.483000													74	84					7.45626e-27	1.00288e-26	1	1	0
ZNF844	284391	broad.mit.edu	37	19	12187085	12187085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:12187085G>T	ENST00000439326.3	+	4	1325	c.1150G>T	c.(1150-1152)Gaa>Taa	p.E384*	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AGACATGAAAGAACTCACACT	0.403000													14	16					4.3838e-07	4.73159e-07	1	1	0
SUSD1	64420	broad.mit.edu	37	9	114875085	114875085	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:114875085T>C	ENST00000374270.3	-	7	1122	c.950A>G	c.(949-951)aAc>aGc	p.N317S	SUSD1_ENST00000374263.3_Missense_Mutation_p.N317S|SUSD1_ENST00000374264.2_Missense_Mutation_p.N317S	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	317						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCTTCTTGAGTTTATTTGCCA	0.368000													6	37					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796790	93796790	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:93796790G>A	ENST00000315765.9	+	3	540	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	178	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TACTCCAGCCGATGCCAACTG	0.527000													48	60					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574049	28574049	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:28574049G>A	ENST00000220562.4	+	3	1375	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	158						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CTGCCCATCCGACTGCTCCCA	0.602000													30	40					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52919780	52919780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:52919780C>T	ENST00000360465.3	+	7	2101	c.1675C>T	c.(1675-1677)Cga>Tga	p.R559*	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CAAAGCATTTCGAGGGTGTTC	0.408000													25	48					0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158634740	158634740	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:158634740A>C	ENST00000263640.3	-	5	875	c.446T>G	c.(445-447)tTt>tGt	p.F149C	ACVR1_ENST00000434821.1_Missense_Mutation_p.F149C|ACVR1_ENST00000410057.2_Missense_Mutation_p.F149C|ACVR1_ENST00000409283.2_Missense_Mutation_p.F149C|ACVR1_ENST00000487456.1_5'UTR	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	149					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	GCGCCTTTTAAATTTTCGGAG	0.488000													22	25					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258442	25258442	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:25258442G>A	ENST00000328086.7	-	5	1878	c.1075C>T	c.(1075-1077)Cgc>Tgc	p.R359C		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	359					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCATAAAAGCGAGACTCTTTG	0.473000													44	55					0	0	1	0	0
LPL	4023	broad.mit.edu	37	8	19805714	19805714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:19805714G>A	ENST00000311322.8	+	2	582	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	38					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TATCGACATCGAAAGTAAATT	0.418000													67	91					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121671535	121671535	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:121671535C>T	ENST00000393386.2	+	15	5499	c.5088C>T	c.(5086-5088)gtC>gtT	p.V1696V	PTPRZ1_ENST00000449182.1_Silent_p.V836V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1696					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGATGATGTCGGAGCAATTC	0.313000													23	22					0	0	1	0	0
LTV1	84946	broad.mit.edu	37	6	144184235	144184235	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:144184235C>T	ENST00000367576.5	+	10	1263	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	377								p.R377*(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		CAAACAAATTCGAATATCTTC	0.328000													33	32					0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46628123	46628123	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:46628123C>A	ENST00000396000.2	+	7	1411	c.1146C>A	c.(1144-1146)atC>atA	p.I382I	PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000407236.1_Silent_p.I382I|PPARA_ENST00000402126.1_Silent_p.I382I|PPARA_ENST00000262735.5_Silent_p.I382I			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	382	Ligand-binding.|Required for heterodimerization with RXRA.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TGGCTGCTATCATTTGCTGTG	0.433000													73	80					9.13743e-30	1.24948e-29	1	1	0
AKTIP	64400	broad.mit.edu	37	16	53528092	53528092	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:53528092C>T	ENST00000394657.7	-	8	842	c.668G>A	c.(667-669)cGt>cAt	p.R223H	AKTIP_ENST00000570004.1_Missense_Mutation_p.R223H|AKTIP_ENST00000300245.4_Missense_Mutation_p.R223H	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein						apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				GTCAAACAAACGAGCAGTGCA	0.378000													20	27					0	0	1	0	0
ZNF433	163059	broad.mit.edu	37	19	12125781	12125781	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:12125781C>T	ENST00000419886.2	-	5	2087	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.R634Q|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TCCATGCCTTCGAAGGTTTGA	0.443000													21	28					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377994	138377994	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:138377994G>A	ENST00000356818.2	+	4	2187	c.1638G>A	c.(1636-1638)gcG>gcA	p.A546A	PPP1R26_ENST00000401470.3_Silent_p.A546A|PPP1R26_ENST00000605286.1_Silent_p.A546A|PPP1R26_ENST00000605660.1_Silent_p.A546A|PPP1R26_ENST00000604351.1_Silent_p.A546A|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	546						nucleolus	protein binding										CCCTAAAGGCGCAGTCAGGGA	0.627000													96	130					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													4	77					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179100501	179100501	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:179100501G>A	ENST00000502732.1	-	3	539	c.336C>T	c.(334-336)ttC>ttT	p.F112F	ABL2_ENST00000507173.1_Silent_p.F91F|ABL2_ENST00000367623.4_Silent_p.F91F|ABL2_ENST00000511413.1_Silent_p.F112F|ABL2_ENST00000512653.1_Silent_p.F97F|ABL2_ENST00000408940.3_Silent_p.F76F|ABL2_ENST00000504405.1_Silent_p.F76F|ABL2_ENST00000392043.3_Silent_p.F91F|ABL2_ENST00000344730.3_Silent_p.F97F	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	112	SH3.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AAAGTGCAACGAAGAGATTAG	0.443000			T	ETV6	AML								26	37					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66322674	66322674	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:66322674C>T	ENST00000502692.1	+	0	876				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CGCCAAACTGCGAAAGGTAGA	0.622000													35	36					0	0	1	0	0
C14orf182	283551	broad.mit.edu	37	14	50459563	50459563	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:50459563T>C	ENST00000399206.1	-	2	1955	c.235A>G	c.(235-237)Aaa>Gaa	p.K79E	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	0										large_intestine(2)|urinary_tract(1)	3						CTCAGGAGTTTTCCATTTTTC	0.423000													13	26					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79951555	79951555	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:79951555C>A	ENST00000438737.2	-	3	726	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	RBM26_ENST00000267229.7_Nonsense_Mutation_p.E96*|RBM26_ENST00000438724.1_Nonsense_Mutation_p.E96*			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	96					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGAAAAAATTCTACCTTCAGG	0.358000													16	11					2.32078e-09	2.58765e-09	1	1	0
HIVEP1	3096	broad.mit.edu	37	6	12124193	12124193	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:12124193G>A	ENST00000379388.2	+	4	4497	c.4165G>A	c.(4165-4167)Gat>Aat	p.D1389N		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1389					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAAATCATTCGATTGTGGAAG	0.498000													69	75					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44199825	44199825	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:44199825G>A	ENST00000393841.1	+	11	1446	c.955G>A	c.(955-957)Gca>Aca	p.A319T	SLC29A1_ENST00000371755.3_Missense_Mutation_p.A319T|SLC29A1_ENST00000371724.1_Missense_Mutation_p.A319T|SLC29A1_ENST00000313248.7_Missense_Mutation_p.A398T|SLC29A1_ENST00000371708.1_Missense_Mutation_p.A319T|SLC29A1_ENST00000371731.1_Missense_Mutation_p.A319T|SLC29A1_ENST00000427851.2_Missense_Mutation_p.A319T|SLC29A1_ENST00000393844.1_Missense_Mutation_p.A319T|SLC29A1_ENST00000371740.5_Missense_Mutation_p.A319T|SLC29A1_ENST00000371713.1_Missense_Mutation_p.A319T|SLC29A1_ENST00000472176.1_3'UTR	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	319					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	GTCCAGCATCGCAGGCAGCAG	0.542000													20	29					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7557462	7557462	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:7557462C>T	ENST00000399429.3	-	7	960	c.820G>A	c.(820-822)Gct>Act	p.A274T		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	274	Collagen-like 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTTTTTGAGCGTTGCCCTGT	0.413000													65	88					0	0	1	0	0
YARS2	51067	broad.mit.edu	37	12	32908656	32908656	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:32908656G>T	ENST00000324868.8	-	1	180	c.153C>A	c.(151-153)ttC>ttA	p.F51L		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	51					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TCTCCGGGAAGAAGTCCTTGA	0.582000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	111	130					3.23316e-72	4.65258e-72	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92732941	92732941	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:92732941G>A	ENST00000379958.2	-	3	2739	c.2470C>T	c.(2470-2472)Cga>Tga	p.R824*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	824						cytoplasm				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)			TTTTCATATCGAATGTACTTT	0.353000													25	33					0	0	1	0	0
MSL3P1	151507	broad.mit.edu	37	2	234774885	234774885	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:234774885G>T	ENST00000438684.1	-	0	1229					NR_024322.1																						ACCTCACAAAGAGATCAAAGT	0.448000													22	4					4.26978e-12	4.92127e-12	1	1	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187848	37187848	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:37187848G>A	ENST00000425901.2	+	0	1690					NR_033753.2																						CTCTCCATTCGAACCTGACTC	0.473000													63	47					0	0	1	0	0
NDUFAF6	137682	broad.mit.edu	37	8	96053846	96053846	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:96053846G>A	ENST00000396113.1	+	10	1243	c.193G>A	c.(193-195)Gat>Aat	p.D65N	NDUFAF6_ENST00000286687.4_Missense_Mutation_p.D5N|NDUFAF6_ENST00000396111.2_Missense_Mutation_p.D65N|NDUFAF6_ENST00000396124.4_Missense_Mutation_p.D157N|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.D105N			Q330K2	CH038_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	157					biosynthetic process	mitochondrion	transferase activity										GAAAATCGTCGATGAAAGAGT	0.284000													33	44					0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207307917	207307917	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:207307917G>A	ENST00000367070.3	+	9	1447	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	418	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGGAGTCCCCGAACACCATCA	0.378000													39	55					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114380989	114380989	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:114380989T>G	ENST00000359785.5	-	13	1168	c.1033A>C	c.(1033-1035)Aaa>Caa	p.K345Q	PTPN22_ENST00000525799.1_Missense_Mutation_p.K218Q|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Missense_Mutation_p.K101Q|PTPN22_ENST00000420377.2_Missense_Mutation_p.K345Q|PTPN22_ENST00000528414.1_Missense_Mutation_p.K290Q	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	345					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTTCCATTTTTGTCCTTTGT	0.378000													17	15					0	0	1	0	0
PPCS	79717	broad.mit.edu	37	1	42925550	42925550	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:42925550G>A	ENST00000372561.3	+	3	896	c.889G>A	c.(889-891)Gat>Aat	p.D297N	PPCS_ENST00000455780.1_Missense_Mutation_p.D124N|PPCS_ENST00000372556.3_3'UTR|PPCS_ENST00000372562.1_Missense_Mutation_p.D124N|PPCS_ENST00000472013.1_3'UTR	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	297					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAAGATAGTGGATAATCTTCA	0.378000													44	41					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66189988	66189988	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:66189988C>T	ENST00000311034.2	+	3	570	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	132	PAS 1.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTCACTGTGCGCCAGCAACT	0.587000													40	47					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135020850	135020850	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:135020850C>A	ENST00000304613.3	+	20	3810	c.3789C>A	c.(3787-3789)taC>taA	p.Y1263*	KNDC1_ENST00000368572.2_Nonsense_Mutation_p.Y1265*			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1263	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTACCTGTACTCCAGGTGCG	0.657000													12	18					6.40141e-05	6.67685e-05	1	1	0
CD1C	911	broad.mit.edu	37	1	158261186	158261186	+	Silent	SNP	G	G	A	rs116022586	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:158261186G>A	ENST00000368170.3	+	2	603	c.324G>A	c.(322-324)tcG>tcA	p.S108S		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	108					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.S108S(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AAGATTACTCGAAATGTAAGT	0.358000													30	36					0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228588854	228588854	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:228588854G>A	ENST00000493030.2	-	2	3880	c.171C>T	c.(169-171)ttC>ttT	p.F57F	TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000366699.3_Silent_p.F182F|TRIM11_ENST00000284551.6_Silent_p.F182F			Q96F44	TRI11_HUMAN	tripartite motif containing 11	182					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GAAGACGCTCGAACTCACCCA	0.672000													28	29					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256447	140256447	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140256447G>A	ENST00000398631.2	+	1	1390	c.1390G>A	c.(1390-1392)Gtg>Atg	p.V464M	PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGTGTTCGTGAAGGAGAA	0.657000													93	96					0	0	1	0	0
PSME1	5720	broad.mit.edu	37	14	24606623	24606623	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:24606623C>T	ENST00000382708.3	+	4	292	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000470718.1_3'UTR|PSME1_ENST00000561435.1_Missense_Mutation_p.R77W|PSME1_ENST00000206451.6_Missense_Mutation_p.R77W	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	77					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		GAAAGAGGAGCGGAAGAAACA	0.522000													46	57					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78039373	78039373	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:78039373C>T	ENST00000397545.4	+	10	1557	c.1530C>T	c.(1528-1530)gaC>gaT	p.D510D	CCDC40_ENST00000269318.5_Silent_p.D510D|CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000374877.3_Silent_p.D510D	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	510					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGCACCGCGACGAGGCGCACA	0.687000													52	49					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28375399	28375399	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:28375399G>A	ENST00000261609.7	-	83	12820	c.12712C>T	c.(12712-12714)Cga>Tga	p.R4238*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4238					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.V4237>?(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGAGGCCTTCGAACATGGTCA	0.557000													126	125					0	0	1	0	0
ZBTB12	221527	broad.mit.edu	37	6	31867854	31867854	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:31867854G>A	ENST00000375527.2	-	2	1404	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CCGCGCTCCCGAGTGCAGGTT	0.622000													29	37					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675114	3675114	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:3675114G>T	ENST00000344754.4	-	12	3009	c.3010C>A	c.(3010-3012)Ctg>Atg	p.L1004M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1004M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1004	Ig-like C2-type 10.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACACGGCACAGGAGGAGGCCC	0.672000													9	6					0.000274275	0.000283032	1	1	0
CACNA1S	779	broad.mit.edu	37	1	201027539	201027539	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:201027539G>A	ENST00000362061.3	-	28	3832	c.3606C>T	c.(3604-3606)atC>atT	p.I1202I	CACNA1S_ENST00000367338.3_Silent_p.I1202I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1202					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TACTCACGTCGATCTCACTGA	0.507000													19	32					0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169699576	169699576	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:169699576G>A	ENST00000444448.2	+	10	1055	c.579G>A	c.(577-579)gcG>gcA	p.A193A	NOSTRIN_ENST00000421711.2_Silent_p.A165A|NOSTRIN_ENST00000397209.2_Silent_p.A165A|NOSTRIN_ENST00000445023.2_Silent_p.A115A|NOSTRIN_ENST00000397206.2_Silent_p.A115A|NOSTRIN_ENST00000458381.2_Silent_p.A193A|NOSTRIN_ENST00000317647.7_Silent_p.A193A			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	184					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AAAACATGGCGGGTTATTCTA	0.348000													22	19					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61885158	61885158	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:61885158C>A	ENST00000578681.1	+	10	1522	c.921C>A	c.(919-921)ttC>ttA	p.F307L	DDX42_ENST00000583590.1_Missense_Mutation_p.F307L|DDX42_ENST00000389924.2_Missense_Mutation_p.F307L|DDX42_ENST00000359353.5_Missense_Mutation_p.F188L|DDX42_ENST00000457800.2_Missense_Mutation_p.F307L	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	307	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CTGCAGCCTTCATTTGGCCCA	0.458000													15	107					6.31663e-08	6.90016e-08	1	1	0
RERGL	79785	broad.mit.edu	37	12	18241852	18241852	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:18241852C>A	ENST00000229002.2	-	3	300	c.94G>T	c.(94-96)Gaa>Taa	p.E32*	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Nonsense_Mutation_p.E31*|RERGL_ENST00000536890.1_Nonsense_Mutation_p.E31*	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	32	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						GAAGCATATTCTCCAATGAAT	0.328000													46	72					1.89013e-27	2.55839e-27	1	1	0
PTPLA	9200	broad.mit.edu	37	10	17645599	17645599	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:17645599C>A	ENST00000361271.3	-	4	480	c.443G>T	c.(442-444)aGa>aTa	p.R148I		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	148					fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						CATAAAGATTCTTGAACTCAC	0.368000													12	21					0.0135373	0.0137121	1	1	0
FYB	2533	broad.mit.edu	37	5	39202753	39202753	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:39202753C>T	ENST00000351578.6	-	2	500	c.310G>A	c.(310-312)Gag>Aag	p.E104K	FYB_ENST00000515010.1_Missense_Mutation_p.E104K|FYB_ENST00000512982.1_Missense_Mutation_p.E104K|FYB_ENST00000505428.1_Missense_Mutation_p.E104K|FYB_ENST00000540520.1_Missense_Mutation_p.E114K	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	104					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ACTTTCGCCTCGGGGTCTCTG	0.542000													29	37					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71795122	71795122	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:71795122G>T	ENST00000258104.3	+	25	2830	c.2553G>T	c.(2551-2553)caG>caT	p.Q851H	DYSF_ENST00000410041.1_Missense_Mutation_p.Q869H|DYSF_ENST00000409366.1_Missense_Mutation_p.Q852H|DYSF_ENST00000409651.1_Missense_Mutation_p.Q883H|DYSF_ENST00000413539.2_Missense_Mutation_p.Q882H|DYSF_ENST00000409744.1_Missense_Mutation_p.Q838H|DYSF_ENST00000394120.2_Missense_Mutation_p.Q852H|DYSF_ENST00000409582.3_Missense_Mutation_p.Q868H|DYSF_ENST00000429174.2_Missense_Mutation_p.Q851H|DYSF_ENST00000410020.3_Missense_Mutation_p.Q869H|DYSF_ENST00000409762.1_Missense_Mutation_p.Q868H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	851						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGCCAGTGCAGATACGGGTCA	0.557000													46	56					1.61004e-24	2.13272e-24	1	1	0
SIAH2	6478	broad.mit.edu	37	3	150460027	150460027	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:150460027C>A	ENST00000312960.3	-	2	1403	c.876G>T	c.(874-876)atG>atT	p.M292I		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	292	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGTCGCTGTTCATGATGGCCG	0.493000													36	45					1.45844e-13	1.71658e-13	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52320774	52320774	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:52320774G>A	ENST00000356297.4	-	17	3510	c.3410C>T	c.(3409-3411)tCg>tTg	p.S1137L	PXDNL_ENST00000543296.1_Missense_Mutation_p.S1137L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1137					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTGGCAGCCGAATCCACGGC	0.522000													80	109					0	0	1	0	0
TRMT6	51605	broad.mit.edu	37	20	5924673	5924673	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:5924673C>A	ENST00000203001.2	-	5	593	c.463G>T	c.(463-465)Gaa>Taa	p.E155*	TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	155					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ATGATGGCTTCATATCTGGGG	0.284000													16	21					1.3612e-06	1.45828e-06	1	1	0
AMN1	196394	broad.mit.edu	37	12	31842008	31842008	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:31842008G>A	ENST00000281471.6	-	6	801	c.636C>T	c.(634-636)gtC>gtT	p.V212V	AMN1_ENST00000537562.1_Silent_p.V194V|AMN1_ENST00000536761.1_Silent_p.V194V|AMN1_ENST00000542781.1_Silent_p.V12V|AMN1_ENST00000541931.1_Silent_p.V12V	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	212										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			GGACAGCTTCGACAGCCCCAT	0.358000													14	18					0	0	1	0	0
GPR87	53836	broad.mit.edu	37	3	151012844	151012844	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:151012844C>T	ENST00000260843.4	-	3	654	c.190G>A	c.(190-192)Gtg>Atg	p.V64M	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	64						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGATCCACACTGCTAAACCA	0.393000													22	33					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4307905	4307905	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:4307905C>A	ENST00000337872.4	+	4	1417	c.1296C>A	c.(1294-1296)ttC>ttA	p.F432L	ZBTB49_ENST00000538529.1_Intron|ZBTB49_ENST00000355834.3_Intron	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GGAAACATTTCTCTCAGGTGG	0.284000													26	25					3.99451e-17	4.94492e-17	1	1	0
ZNF431	170959	broad.mit.edu	37	19	21365738	21365738	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:21365738A>G	ENST00000311048.7	+	5	776	c.632A>G	c.(631-633)aAa>aGa	p.K211R	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AAATGTGGCAAATCATTTTGC	0.289000													37	37					0	0	1	0	0
GUCD1	83606	broad.mit.edu	37	22	24943897	24943897	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:24943897G>A	ENST00000435822.1	-	3	597	c.273C>T	c.(271-273)gtC>gtT	p.V91V	GUCD1_ENST00000407471.3_Silent_p.V91V|GUCD1_ENST00000404664.3_Silent_p.V147V|GUCD1_ENST00000447813.2_Silent_p.V91V|GUCD1_ENST00000402766.1_Silent_p.V91V|GUCD1_ENST00000490922.1_5'UTR	NM_001284252.1|NM_001284254.1|NM_031444.2	NP_001271181.1|NP_001271183.1|NP_113632.2			guanylyl cyclase domain containing 1																		AGCCCTTGTCGACACCCAGGG	0.592000													43	46					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88337912	88337912	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:88337912G>A	ENST00000418177.2	-	5	1735	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	GRM5_ENST00000393297.1_Silent_p.F456F|GRM5_ENST00000305447.4_Silent_p.F456F|GRM5_ENST00000305432.5_Silent_p.F456F|GRM5_ENST00000455756.2_Silent_p.F456F			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	456					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CATTCTCATCGAATAGGATCG	0.433000													17	17					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27402206	27402206	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:27402206A>C	ENST00000379214.4	-	9	1326	c.883T>G	c.(883-885)Tta>Gta	p.L295V	LGR4_ENST00000389858.4_Missense_Mutation_p.L271V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	295						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AGATCAGATAAATTGTGAAAT	0.308000													17	19					0	0	1	0	0
ATXN3L	92552	broad.mit.edu	37	X	13338041	13338041	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:13338041A>C	ENST00000380622.2	-	1	477	c.13T>G	c.(13-15)Ttt>Gtt	p.F5V	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	5	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTCTCATGAAAGATGAAATCC	0.438000													19	4					0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86123537	86123537	+	Missense_Mutation	SNP	G	G	A	rs148008941	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:86123537G>A	ENST00000278487.3	+	10	1611	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	CCDC81_ENST00000354755.1_Missense_Mutation_p.E353K|CCDC81_ENST00000445632.2_Missense_Mutation_p.E443K|CCDC81_ENST00000528728.1_Missense_Mutation_p.E178K			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	443										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ACAGGAAAACGAAATAAAGCA	0.453000													41	31					0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	155215	155215	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:155215G>T	ENST00000510175.1	+	0	650							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AAACATAAGAGAATTCATACT	0.353000													22	22					1.10513e-12	1.28599e-12	1	1	0
SLITRK5	26050	broad.mit.edu	37	13	88329725	88329725	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:88329725G>T	ENST00000325089.6	+	2	2301	c.2082G>T	c.(2080-2082)aaG>aaT	p.K694N	SLITRK5_ENST00000400028.3_Missense_Mutation_p.K453N	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	694						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCAGGAAGAAGAACCAGAGCG	0.602000													39	60					8.20599e-20	1.04846e-19	1	1	0
MYO3A	53904	broad.mit.edu	37	10	26446395	26446395	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:26446395C>T	ENST00000265944.5	+	26	3116	c.2950C>T	c.(2950-2952)Cga>Tga	p.R984*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	984	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R984*(3)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCAAGAATTCGAAGACTAGG	0.363000													41	50					0	0	1	0	0
PRKACB	5567	broad.mit.edu	37	1	84679905	84679905	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:84679905A>G	ENST00000370689.2	+	9	1099	c.835A>G	c.(835-837)Acc>Gcc	p.T279A	PRKACB_ENST00000394839.2_Missense_Mutation_p.T249A|PRKACB_ENST00000370682.3_Missense_Mutation_p.T283A|PRKACB_ENST00000394838.2_Missense_Mutation_p.T286A|PRKACB_ENST00000370685.3_Missense_Mutation_p.T326A	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	279	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		GGTGGATTTGACCAAGAGATT	0.438000													20	19					0	0	1	0	0
ADGRG1	9289	broad.mit.edu	37	16	57695840	57695840	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:57695840C>T	ENST00000562631.1	+	13	2428	c.1896C>T	c.(1894-1896)gtC>gtT	p.V632V	GPR56_ENST00000388813.5_Silent_p.V632V|GPR56_ENST00000379696.3_Silent_p.V638V|GPR56_ENST00000567835.1_Silent_p.V638V|GPR56_ENST00000562558.1_Silent_p.V632V|GPR56_ENST00000568909.1_Silent_p.V638V|GPR56_ENST00000538815.1_Silent_p.V632V|GPR56_ENST00000456916.1_Silent_p.V638V|GPR56_ENST00000568908.1_Silent_p.V632V|GPR56_ENST00000379694.4_Silent_p.V468V|GPR56_ENST00000540164.2_Silent_p.V632V|GPR56_ENST00000388812.4_Silent_p.V638V|GPR56_ENST00000544297.1_Silent_p.V457V			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	638					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TCCAGCTTGTCGTCCTCTACC	0.572000													39	40					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19483440	19483440	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:19483440C>T	ENST00000507958.1	-	14	2842	c.1852G>A	c.(1852-1854)Gct>Act	p.A618T	CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.A618T|CDH18_ENST00000382275.1_Missense_Mutation_p.A618T|CDH18_ENST00000502796.1_3'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	618					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGAAGAATAGCGATTAAGGCT	0.478000													23	27					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139197112	139197112	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:139197112G>A	ENST00000274710.3	+	5	1268	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	355	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTTCTTCGACTTCTCGGG	0.572000													38	51					0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120925563	120925563	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:120925563C>A	ENST00000263713.5	+	24	2329	c.2115C>A	c.(2113-2115)ttC>ttA	p.F705L	EPB41L5_ENST00000452780.1_Missense_Mutation_p.F704L|EPB41L5_ENST00000443902.2_Intron	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	705						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CAGCGCCATTCTTGGTAGATG	0.403000													20	23					8.10497e-08	8.84284e-08	1	1	0
ZBTB5	9925	broad.mit.edu	37	9	37442154	37442154	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:37442154C>T	ENST00000307750.4	-	2	583	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CTCCTGAACGCGCTCACTGGG	0.542000													10	163					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70087514	70087514	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:70087514G>A	ENST00000330891.5	-	4	647	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	BEST3_ENST00000551160.1_Missense_Mutation_p.R35C|BEST3_ENST00000266661.4_Missense_Mutation_p.R35C|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000553096.1_Missense_Mutation_p.R35C|BEST3_ENST00000393365.1_Missense_Mutation_p.R35C|BEST3_ENST00000331471.4_Missense_Mutation_p.R141C|BEST3_ENST00000533674.1_5'UTR	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	141						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CTCACCGAGCGAAAGATGAGC	0.532000													35	58					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47968885	47968885	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:47968885A>C	ENST00000289672.2	-	7	1026	c.976T>G	c.(976-978)Ttc>Gtc	p.F326V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	326					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						CTGTCCCCGAAATCCATCATC	0.507000													55	175					0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53386026	53386026	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:53386026C>A	ENST00000395631.2	-	3	422	c.206G>T	c.(205-207)aGa>aTa	p.R69I	FERMT2_ENST00000341590.3_Missense_Mutation_p.R69I|FERMT2_ENST00000343279.4_Missense_Mutation_p.R69I|FERMT2_ENST00000553373.1_Missense_Mutation_p.R69I|FERMT2_ENST00000399304.3_Missense_Mutation_p.R69I			Q96AC1	FERM2_HUMAN	fermitin family member 2	69					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AAGCCAAGTTCTCTTCTTTTC	0.398000													68	72					5.05997e-48	7.18637e-48	1	1	0
DNAJA2	10294	broad.mit.edu	37	16	47007476	47007476	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:47007476T>C	ENST00000317089.5	-	1	223	c.8A>G	c.(7-9)aAc>aGc	p.N3S		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	3					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				GTCAGCCACGTTAGCCATGGC	0.706000													17	30					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76407225	76407225	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:76407225G>A	ENST00000357063.3	+	17	4404	c.3144G>A	c.(3142-3144)acG>acA	p.T1048T	LMO7_ENST00000377534.3_Silent_p.T1048T|LMO7_ENST00000526202.1_Silent_p.T613T|LMO7_ENST00000465261.2_Silent_p.T763T|LMO7_ENST00000341547.4_Silent_p.T714T|LMO7_ENST00000321797.8_Silent_p.T763T			Q8WWI1	LMO7_HUMAN	LIM domain 7	1048	PDZ.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TAAACCAGACGCCTGGGAAGA	0.433000													32	43					0	0	1	0	0
CCT3	7203	broad.mit.edu	37	1	156281922	156281922	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:156281922A>G	ENST00000295688.3	-	11	1345	c.1065T>C	c.(1063-1065)atT>atC	p.I355I	CCT3_ENST00000368261.3_Silent_p.I310I|CCT3_ENST00000472765.2_Silent_p.I310I|CCT3_ENST00000368259.2_Silent_p.I317I	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	355					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ATTCATCTCCAATTTTCTTGA	0.517000													29	37					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183714138	183714138	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:183714138C>A	ENST00000511685.1	+	26	6436	c.6313C>A	c.(6313-6315)Cag>Aag	p.Q2105K	TENM3_ENST00000406950.2_Missense_Mutation_p.Q2105K					teneurin transmembrane protein 3																		GATTACAATTCAGTATGATAA	0.408000													23	25					1.50039e-11	1.7204e-11	1	1	0
CCDC132	55610	broad.mit.edu	37	7	92935287	92935287	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:92935287G>T	ENST00000544910.1	+	19	1730	c.1510G>T	c.(1510-1512)Gaa>Taa	p.E504*	CCDC132_ENST00000317751.6_Nonsense_Mutation_p.E265*|CCDC132_ENST00000535481.1_Nonsense_Mutation_p.E254*|CCDC132_ENST00000305866.5_Nonsense_Mutation_p.E534*|CCDC132_ENST00000541136.1_Nonsense_Mutation_p.E345*	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	534										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CAAAGATGAAGAAACAGAAGA	0.368000													59	70					1.42676e-28	1.94353e-28	1	1	0
PCDHB7	56129	broad.mit.edu	37	5	140554144	140554144	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140554144G>T	ENST00000231137.3	+	1	1902	c.1728G>T	c.(1726-1728)ttG>ttT	p.L576F		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		576	Cadherin 6.		L -> V (in dbSNP:rs13174866).		calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAGCCGTTGCCCCGGGCGG	0.706000													86	87					7.49063e-41	1.0543e-40	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48311733	48311733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:48311733G>T	ENST00000435803.1	+	17	2494	c.2470G>T	c.(2470-2472)Gaa>Taa	p.E824*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	824					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAGATTCATAGAATTAATACT	0.328000													14	14					1.36491e-13	1.60792e-13	1	1	0
RAB5A	5868	broad.mit.edu	37	3	20017543	20017543	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:20017543C>T	ENST00000273047.4	+	4	856	c.320C>T	c.(319-321)tCc>tTc	p.S107F	RAB5A_ENST00000422242.1_Missense_Mutation_p.S93F	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	107					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity			lung(1)|urinary_tract(1)	2						TAACAGGAGTCCTTTGCAAGA	0.398000													13	21					0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579157	49579157	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:49579157G>A	ENST00000301071.7	-	4	1336	c.992C>T	c.(991-993)gCc>gTc	p.A331V	TUBA1A_ENST00000550767.1_Missense_Mutation_p.A296V|TUBA1A_ENST00000295766.5_Missense_Mutation_p.A331V	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	331					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						GGTGGCAATGGCAGCATTGAC	0.537000													45	53					0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	420955	420955	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:420955G>A	ENST00000354200.4	-	6	852	c.705C>T	c.(703-705)gtC>gtT	p.V235V	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	235	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				ATAACCGCACGACGTGCCTGA	0.557000													27	28					0	0	1	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612315	79612315	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:79612315C>A	ENST00000328585.4	+	0	424				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGGAAGTGATCTGGGGGGGCC	0.682000													23	26					9.95505e-16	1.21017e-15	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88962787	88962787	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:88962787G>T	ENST00000333190.4	+	4	1100	c.491G>T	c.(490-492)aGt>aTt	p.S164I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	164						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGCATGAAGAGTGCTCTTCTC	0.448000										HNSCC(36;0.09)			31	41					2.70662e-09	3.01156e-09	1	1	0
SPAG16	79582	broad.mit.edu	37	2	214239745	214239745	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:214239745C>T	ENST00000331683.5	+	9	939	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C	SPAG16_ENST00000374309.3_Missense_Mutation_p.R188C|SPAG16_ENST00000272898.7_Missense_Mutation_p.R282C|SPAG16_ENST00000447990.1_Missense_Mutation_p.R282C	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	282					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGATCATAGTCGTGAAAAAGA	0.323000													19	1					0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458035	20458035	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:20458035C>T	ENST00000426804.1	-	1	3751	c.3267G>A	c.(3265-3267)ccG>ccA	p.P1089P		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GCACATCCAGCGGTGGGTAGG	0.622000													8	22					0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30728107	30728107	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:30728107T>C	ENST00000263056.1	+	3	936	c.240T>C	c.(238-240)acT>acC	p.T80T	MAP3K8_ENST00000542547.1_Silent_p.T80T|MAP3K8_ENST00000375322.2_Silent_p.T80T|MAP3K8_ENST00000375321.1_Silent_p.T80T	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	80					cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GATATGGAACTGTGGAGGATT	0.413000													38	36					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77319687	77319687	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:77319687C>T	ENST00000393774.3	+	9	1066	c.942C>T	c.(940-942)atC>atT	p.I314I		NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	314										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GCAATGACATCGGCAATGAAG	0.527000													33	40					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167304200	167304200	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:167304200C>T	ENST00000409855.1	-	11	1435	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	437					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTCTTCATTTCTATTTGTATG	0.393000													18	32					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104089618	104089618	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:104089618C>A	ENST00000388887.2	+	33	3782	c.3578C>A	c.(3577-3579)tCt>tAt	p.S1193Y		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1193	FAS1 4.				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						AAAGTCTTGTCTCTAGTAAGT	0.393000													21	46					2.37509e-13	2.78749e-13	1	1	0
SFXN1	94081	broad.mit.edu	37	5	174943651	174943651	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:174943651G>T	ENST00000321442.5	+	8	1013	c.759G>T	c.(757-759)aaG>aaT	p.K253N		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	253					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTTGGAAAAGAAAGCCTTTT	0.313000													30	52					9.04072e-19	1.13981e-18	1	1	0
REV3L	5980	broad.mit.edu	37	6	111697441	111697441	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:111697441G>T	ENST00000435970.1	-	15	2699	c.1883C>A	c.(1882-1884)tCt>tAt	p.S628Y	REV3L_ENST00000368802.3_Missense_Mutation_p.S706Y|REV3L_ENST00000358835.3_Missense_Mutation_p.S706Y|REV3L_ENST00000368805.1_Missense_Mutation_p.S706Y			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	706					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAGTTGAAAGAATTTTTGCC	0.333000								DNA polymerases (catalytic subunits)					29	19					1.68575e-08	1.8544e-08	1	1	0
OR5M8	219484	broad.mit.edu	37	11	56258791	56258791	+	Missense_Mutation	SNP	C	C	T	rs146940313		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:56258791C>T	ENST00000327216.2	-	1	80	c.56G>A	c.(55-57)cGc>cAc	p.R19H		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TAATTCCCGGCGACTGGTCAG	0.473000													57	71					0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44595615	44595615	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:44595615C>A	ENST00000245121.5	+	9	828	c.634C>A	c.(634-636)Ctt>Att	p.L212I	KATNAL2_ENST00000356157.7_Missense_Mutation_p.L284I|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	284						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TACAGGAATTCTTTCTCCCTG	0.473000													28	46					1.75199e-13	2.05755e-13	1	1	0
RUFY3	22902	broad.mit.edu	37	4	71640948	71640948	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:71640948G>T	ENST00000226328.4	+	7	1385	c.822G>T	c.(820-822)ttG>ttT	p.L274F	RUFY3_ENST00000417478.2_Missense_Mutation_p.L334F|RUFY3_ENST00000502653.1_Missense_Mutation_p.L221F|RUFY3_ENST00000536664.1_Missense_Mutation_p.L258F|RUFY3_ENST00000381006.3_Missense_Mutation_p.L274F	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	274					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			ACAGACATTTGAAGTAAATAA	0.358000													26	33					2.65835e-16	3.26132e-16	1	1	0
EZH1	2145	broad.mit.edu	37	17	40855800	40855800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:40855800G>A	ENST00000428826.2	-	19	2177	c.2056C>T	c.(2056-2058)Cga>Tga	p.R686*	EZH1_ENST00000435174.1_Nonsense_Mutation_p.R547*|EZH1_ENST00000585893.1_Nonsense_Mutation_p.R646*|EZH1_ENST00000590078.1_Nonsense_Mutation_p.R616*|EZH1_ENST00000592743.1_Nonsense_Mutation_p.R686*|EZH1_ENST00000415827.2_Nonsense_Mutation_p.R677*			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	686	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTTGCAAATCGAATTTTGTTT	0.433000													32	48					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90248798	90248798	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:90248798C>A	ENST00000268130.7	+	4	611	c.510C>A	c.(508-510)ctC>ctA	p.L170L	WDR93_ENST00000560294.1_Silent_p.L170L	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	170					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TCATTAGACTCTTTTATTTTT	0.343000													8	15					0.00448238	0.00456106	1	1	0
LRRC32	2615	broad.mit.edu	37	11	76371068	76371068	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:76371068C>A	ENST00000407242.2	-	3	1811	c.1569G>T	c.(1567-1569)gaG>gaT	p.E523D	LRRC32_ENST00000260061.5_Missense_Mutation_p.E523D|LRRC32_ENST00000404995.1_Missense_Mutation_p.E523D|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	523						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TCAGGCGGTTCTCGGCAAGAT	0.632000													18	32					1.40151e-16	1.72377e-16	1	1	0
KDR	3791	broad.mit.edu	37	4	55970962	55970962	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:55970962A>C	ENST00000263923.4	-	13	2130	c.1835T>G	c.(1834-1836)tTg>tGg	p.L612W		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	612	Ig-like C2-type 6.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGTGGCATTCAATTTCCAAAG	0.463000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			44	36					0	0	1	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654769	161654769	+	RNA	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:161654769T>G	ENST00000426558.1	-	0	273					NR_002595.1																						TGGGACATTCTTATTCCTTTG	0.463000													14	13					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10296523	10296523	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:10296523G>T	ENST00000403437.2	-	36	5265	c.5171C>A	c.(5170-5172)aCc>aAc	p.T1724N	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1724					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP 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						AATGAGACTGGTATTCTGTTA	0.388000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				62	75					9.39563e-20	1.19902e-19	1	1	0
ZNF649	65251	broad.mit.edu	37	19	52394384	52394384	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:52394384T>C	ENST00000354957.3	-	5	1289	c.1005A>G	c.(1003-1005)atA>atG	p.I335M	ZNF649_ENST00000600738.1_Missense_Mutation_p.I307M|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TTCGTTGATGTATGTTGAGAT	0.443000													25	39					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45996314	45996314	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:45996314G>T	ENST00000348697.2	+	20	2247	c.2100G>T	c.(2098-2100)gaG>gaT	p.E700D	FBLN1_ENST00000327858.6_Missense_Mutation_p.E700D			P23142	FBLN1_HUMAN	fibulin 1	700					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCGTCTCTGAGTACTGGTTCT	0.557000													151	153					1.04827e-66	1.50604e-66	1	1	0
PPARGC1B	133522	broad.mit.edu	37	5	149216125	149216125	+	Missense_Mutation	SNP	G	G	A	rs115650813	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:149216125G>A	ENST00000309241.5	+	8	2139	c.2107G>A	c.(2107-2109)Gtc>Atc	p.V703I	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.V664I|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.V639I|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.V703I	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	703					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACCAGAAGGCGTCCTGCAAAG	0.647000													44	49					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169791907	169791907	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:169791907C>T	ENST00000263817.6	-	23	2967	c.2843G>A	c.(2842-2844)cGc>cAc	p.R948H		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	948	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AGCAACAGTGCGGATGTTACT	0.443000													30	165					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106209891	106209891	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:106209891G>A	ENST00000369704.3	+	17	2573	c.2439G>A	c.(2437-2439)gaG>gaA	p.E813E		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	813										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATGAGGTAGAGAAACTTACCA	0.318000													27	32					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31904657	31904657	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:31904657C>A	ENST00000396184.3	-	8	853	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	PDE1C_ENST00000396182.2_Nonsense_Mutation_p.E217*|PDE1C_ENST00000396193.1_Nonsense_Mutation_p.E277*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.E217*|PDE1C_ENST00000396191.1_Nonsense_Mutation_p.E217*	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	217	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TATCCCACTTCCAGGGCCTCC	0.448000													25	51					2.79863e-10	3.16143e-10	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113349921	113349921	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:113349921C>T	ENST00000297405.5	-	43	6936	c.6692G>A	c.(6691-6693)cGa>cAa	p.R2231Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2191Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2127Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2161Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2231	Sushi 12.					integral to membrane|plasma membrane		p.R2231Q(2)|p.R2191Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAACCATTTCGAAACGGGCG	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			46	38					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21088061	21088061	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:21088061G>A	ENST00000255882.6	-	35	4209	c.4123C>T	c.(4123-4125)Cgc>Tgc	p.R1375C	PI4KA_ENST00000572273.1_Missense_Mutation_p.R1317C|PI4KA_ENST00000414196.3_Missense_Mutation_p.R127C	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1317					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATCTTCTCGCGAAGCACATTG	0.602000													34	55					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56216913	56216913	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:56216913T>G	ENST00000357606.3	-	5	1864	c.1575A>C	c.(1573-1575)caA>caC	p.Q525H	DNAJC14_ENST00000317287.5_Missense_Mutation_p.Q525H|DNAJC14_ENST00000317269.3_Missense_Mutation_p.Q525H|RP11-762I7.5_ENST00000546837.1_Silent_p.R155R			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	525					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TGAGGTCATCTTGCAGCTTGG	0.443000													41	66					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698688	169698688	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:169698688G>A	ENST00000333360.7	-	6	981	c.842C>T	c.(841-843)gCc>gTc	p.A281V	SELE_ENST00000367781.4_Missense_Mutation_p.A281V|SELE_ENST00000367780.4_Missense_Mutation_p.A219V|SELE_ENST00000367775.1_Missense_Mutation_p.A219V|SELE_ENST00000367782.4_Missense_Mutation_p.A281V|SELE_ENST00000367776.1_Missense_Mutation_p.A281V|SELE_ENST00000367777.1_Missense_Mutation_p.A281V|SELE_ENST00000367779.4_Missense_Mutation_p.A281V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Missense_Mutation_p.A281V	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	281	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AAGGCTCTGGGCTCCCATTAG	0.463000													39	67					0	0	1	0	0
PSMD12	5718	broad.mit.edu	37	17	65353461	65353461	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:65353461T>G	ENST00000356126.3	-	3	362	c.255A>C	c.(253-255)gaA>gaC	p.E85D	PSMD12_ENST00000581618.1_5'UTR|PSMD12_ENST00000357146.4_Missense_Mutation_p.E65D	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	85					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GCATAATATTTTCATTAAGTA	0.373000													10	28					0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113187036	113187036	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:113187036C>T	ENST00000393020.1	+	2	462	c.57C>T	c.(55-57)atC>atT	p.I19I	TTC12_ENST00000483239.2_Splice_Site_p.I19I|TTC12_ENST00000314756.3_Splice_Site_p.I19I|TTC12_ENST00000529221.1_Splice_Site_p.I19I			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	19							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGGATGAAATCTGTAAGTACT	0.348000													13	22					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34142228	34142228	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:34142228C>A	ENST00000331923.4	-	2	558	c.369G>T	c.(367-369)aaG>aaT	p.K123N	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.K123N	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		AACTTGATTTCTTCACTTTGA	0.289000													6	10					0.00116845	0.00119626	1	1	0
EXOC5	10640	broad.mit.edu	37	14	57710900	57710900	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:57710900A>C	ENST00000413566.2	-	4	807	c.448T>G	c.(448-450)Ttt>Gtt	p.F150V	EXOC5_ENST00000556911.1_5'UTR|EXOC5_ENST00000340918.7_Intron	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	150					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						GAATTTGTAAAAACATCAGAT	0.383000													14	31					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070754	9070754	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9070754G>A	ENST00000397910.4	-	3	16895	c.16692C>T	c.(16690-16692)acC>acT	p.T5564T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5566	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						GAGTGGTGACGGTCATTTCTG	0.517000													77	117					0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1712415	1712415	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:1712415C>T	ENST00000313871.3	+	2	256	c.60C>T	c.(58-60)taC>taT	p.Y20Y	AKAP17A_ENST00000381261.3_Silent_p.Y20Y	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	20					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GCCCTGCTTACGGCTTGTACC	0.602000													91	75					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593506	179593506	+	Splice_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179593506C>A	ENST00000589042.1	-	66	19372		c.e66-1		TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000591111.1_Splice_Site	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			TGAGCTGGTTCTGTAGTAAAA	0.378000													20	27					7.45023e-12	8.57218e-12	1	1	0
ZNFX1	57169	broad.mit.edu	37	20	47886966	47886966	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:47886966G>A	ENST00000396105.1	-	3	1629	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	ZNFX1_ENST00000371754.4_Silent_p.F461F|ZNFX1_ENST00000371752.1_Silent_p.F461F	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	461							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAAATGTCTCGAAGTTGTCCT	0.468000													78	83					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113658779	113658779	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:113658779T>C	ENST00000358160.4	+	16	2230	c.1738T>C	c.(1738-1740)Tca>Cca	p.S580P	GRAMD1C_ENST00000452134.2_Missense_Mutation_p.S309P|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.S375P|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.S413P	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	580						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TCTGAAGCTGTCAAAGATAGA	0.393000													35	35					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6655200	6655200	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:6655200C>A	ENST00000299441.3	-	4	2449	c.2038G>T	c.(2038-2040)Gac>Tac	p.D680Y	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	680	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGGTTGTCATTCTCGTCT	0.557000													42	47					2.47872e-24	3.28016e-24	1	1	0
PLCB3	5331	broad.mit.edu	37	11	64033621	64033621	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:64033621C>T	ENST00000540288.1	+	27	3316	c.3213C>T	c.(3211-3213)gtC>gtT	p.V1071V	PLCB3_ENST00000279230.6_Silent_p.V1071V|PLCB3_ENST00000325234.5_Silent_p.V1004V	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1071					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TCAGGGAGGTCGTCCTTGATG	0.572000													5	85					0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33269617	33269617	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:33269617C>A	ENST00000314144.5	-	7	886	c.771G>T	c.(769-771)gaG>gaT	p.E257D	CCT6B_ENST00000436961.3_Missense_Mutation_p.E212D|CCT6B_ENST00000421975.3_Missense_Mutation_p.E220D	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	257					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TTACCAATTTCTCTTTCTCTT	0.328000													14	21					1.49906e-05	1.57744e-05	1	1	0
CD2AP	23607	broad.mit.edu	37	6	47573948	47573948	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:47573948C>T	ENST00000359314.5	+	14	1921	c.1465C>T	c.(1465-1467)Ctc>Ttc	p.L489F		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	489					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CTTGCTTCATCTCACTGCAAA	0.353000													26	26					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27372406	27372406	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:27372406G>T	ENST00000358918.3	-	7	1156	c.957C>A	c.(955-957)ttC>ttA	p.F319L	APP_ENST00000440126.3_Missense_Mutation_p.F314L|APP_ENST00000439274.2_Missense_Mutation_p.F263L|APP_ENST00000346798.3_Missense_Mutation_p.F319L|APP_ENST00000359726.3_Intron|APP_ENST00000448388.2_Intron|APP_ENST00000348990.5_Intron|APP_ENST00000357903.3_Missense_Mutation_p.F319L|APP_ENST00000354192.3_Intron	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	319	BPTI/Kunitz inhibitor.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CGCCGTAAAAGAATGGGGCAC	0.557000													21	26					7.87624e-14	9.31353e-14	1	1	0
MSTN	2660	broad.mit.edu	37	2	190925046	190925046	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:190925046G>A	ENST00000260950.4	-	2	621	c.489C>T	c.(487-489)gtC>gtT	p.V163V	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	163					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TAGGAGTCTCGACGGGTCTCA	0.378000													120	45					0	0	1	0	0
GPR135	64582	broad.mit.edu	37	14	59930837	59930837	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:59930837C>T	ENST00000395116.1	-	1	1223	c.1108G>A	c.(1108-1110)Gtg>Atg	p.V370M		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	370						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		ACGGCCACCACGCTGAGGAGC	0.657000													17	23					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18547870	18547870	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:18547870C>T	ENST00000399799.2	-	26	3975	c.3035G>A	c.(3034-3036)cGa>cAa	p.R1012Q		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1						actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.R1012Q(2)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AAAATCTTTTCGATTCATTAT	0.264000													25	35					0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115573945	115573945	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:115573945C>A	ENST00000371900.4	+	4	525	c.437C>A	c.(436-438)tCt>tAt	p.S146Y		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	146					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	ATGTTTGCTTCTTTTCAAAGT	0.343000													53	2					1.11015e-26	1.49129e-26	1	1	0
CENPF	1063	broad.mit.edu	37	1	214819293	214819293	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:214819293G>A	ENST00000366955.3	+	13	6548	c.6380G>A	c.(6379-6381)cGc>cAc	p.R2127H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2223	Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.R2127H(2)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTGAGAGTTCGCATTGAGGCC	0.498000													31	44					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68857307	68857307	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:68857307G>T	ENST00000261769.5	+	13	2133	c.1942G>T	c.(1942-1944)Gaa>Taa	p.E648*	CDH1_ENST00000422392.2_Nonsense_Mutation_p.E587*|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	648	Cadherin 5.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.E648*(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TCCAGCCCAAGAATCTATCAT	0.398000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				36	43					2.48696e-23	3.26513e-23	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92763661	92763661	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:92763661T>G	ENST00000318238.4	-	5	2840	c.1624A>C	c.(1624-1626)Aaa>Caa	p.K542Q	SAMD9L_ENST00000411955.1_Missense_Mutation_p.K542Q|SAMD9L_ENST00000437805.1_Missense_Mutation_p.K542Q	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	542										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ACCAAAAATTTTCCTCTTGTC	0.363000													25	16					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	53254307	53254307	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:53254307T>C	ENST00000354452.3	-	2	652	c.41A>G	c.(40-42)aAa>aGa	p.K14R	TCF4_ENST00000537578.1_Intron|TCF4_ENST00000567880.1_Missense_Mutation_p.K14R|TCF4_ENST00000565018.2_Missense_Mutation_p.K14R|TCF4_ENST00000566279.1_Missense_Mutation_p.K14R|TCF4_ENST00000356073.4_Missense_Mutation_p.K14R|TCF4_ENST00000564403.2_Missense_Mutation_p.K14R|TCF4_ENST00000564999.1_Missense_Mutation_p.K14R|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000398339.1_Missense_Mutation_p.K116R|TCF4_ENST00000568740.1_Intron	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	14	Essential for MYOD1 inhibition (By similarity).				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		ACTCAGCTCTTTGTCCGTCCC	0.413000													28	19					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2815685	2815685	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:2815685G>T	ENST00000301740.8	+	11	5705	c.5156G>T	c.(5155-5157)aGa>aTa	p.R1719I		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1719	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ACTCGCTCTAGAACTCCCCCA	0.602000													25	24					6.32553e-13	7.3784e-13	1	1	0
KIAA1468	57614	broad.mit.edu	37	18	59931281	59931281	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:59931281C>T	ENST00000256858.6	+	17	2658	c.2410C>T	c.(2410-2412)Cgt>Tgt	p.R804C	KIAA1468_ENST00000398130.2_Missense_Mutation_p.R804C			Q9P260	K1468_HUMAN	KIAA1468	804							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TATCGGAAGTCGTGAGCAATT	0.433000													32	35					0	0	1	0	0
FAM111B	374393	broad.mit.edu	37	11	58892923	58892923	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:58892923C>T	ENST00000343597.3	+	4	1544	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C	FAM111B_ENST00000411426.1_Silent_p.C421C|FAM111B_ENST00000529618.1_Silent_p.C421C	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	451							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TTGCAACCTGCGAACAGCTTA	0.363000													76	80					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526267	189526267	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:189526267C>T	ENST00000264731.3	+	4	620	c.531C>T	c.(529-531)ttC>ttT	p.F177F	TP63_ENST00000320472.5_Silent_p.F177F|TP63_ENST00000449992.1_Intron|TP63_ENST00000354600.5_Silent_p.F83F|TP63_ENST00000437221.1_Silent_p.F83F|TP63_ENST00000456148.1_Silent_p.F83F|TP63_ENST00000392461.3_Silent_p.F83F|TP63_ENST00000440651.2_Silent_p.F177F|TP63_ENST00000382063.4_Intron|TP63_ENST00000418709.2_Silent_p.F177F|TP63_ENST00000392463.2_Silent_p.F83F|TP63_ENST00000392460.3_Silent_p.F177F	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	177				F -> S (in Ref. 1; BAA32433).	anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F177F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGCACAGTTTCGACGTGTCCT	0.652000										HNSCC(45;0.13)			33	43					0	0	1	0	0
ZNF540	163255	broad.mit.edu	37	19	38103977	38103977	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:38103977G>T	ENST00000592533.1	+	5	2128	c.1796G>T	c.(1795-1797)aGa>aTa	p.R599I	ZNF540_ENST00000343599.5_Missense_Mutation_p.R599I|ZNF540_ENST00000316433.4_Missense_Mutation_p.R599I|ZNF540_ENST00000589117.1_Missense_Mutation_p.R567I	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATACATCAAAGAATTCATACT	0.383000													24	32					1.10923e-09	1.24224e-09	1	1	0
PDXDC2P	283970	broad.mit.edu	37	16	70012157	70012157	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:70012157G>A	ENST00000531894.1	-	0	2519				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1																						GCCCGCCACCGCAACTCTTGC	0.468000													77	100					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534852	92534852	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:92534852C>A	ENST00000298047.6	+	9	8690	c.8673C>A	c.(8671-8673)ttC>ttA	p.F2891L	FAT3_ENST00000525166.1_Missense_Mutation_p.F2741L|FAT3_ENST00000409404.2_Missense_Mutation_p.F2891L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2891	Cadherin 26.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATTCACCTTCTCTGTGGTGG	0.498000										TCGA Ovarian(4;0.039)			19	36					3.99206e-14	4.73629e-14	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118484845	118484845	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:118484845C>A	ENST00000311085.8	+	18	3403	c.3323C>A	c.(3322-3324)tCt>tAt	p.S1108Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1108Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1108										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTATTGGATTCTGGCATTAGT	0.348000													82	78					4.8811e-34	6.77183e-34	1	1	0
CDHR1	92211	broad.mit.edu	37	10	85964338	85964338	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:85964338G>A	ENST00000372117.3	+	9	942	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	CDHR1_ENST00000332904.3_Missense_Mutation_p.R280Q|CDHR1_ENST00000440770.2_Missense_Mutation_p.R39Q	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	280	Cadherin 3.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AAACCCAATCGAATTCTCTAC	0.552000													43	48					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92730826	92730826	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:92730826G>A	ENST00000379958.2	-	3	4854	c.4585C>T	c.(4585-4587)Cgt>Tgt	p.R1529C		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1529						cytoplasm		p.R1529C(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)			CCTTGTAAACGAAGCAAAAGT	0.368000													19	30					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62036709	62036709	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:62036709G>A	ENST00000435607.1	-	12	2011	c.1935C>T	c.(1933-1935)ttC>ttT	p.F645F	SCN4A_ENST00000578147.1_Silent_p.F645F	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	645					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGATGCTGTCGAAGATATTCC	0.547000													14	18					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107834808	107834808	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:107834808A>C	ENST00000379028.3	-	16	1998	c.1528T>G	c.(1528-1530)Ttg>Gtg	p.L510V	NRCAM_ENST00000379022.4_Missense_Mutation_p.L510V|NRCAM_ENST00000379024.4_Missense_Mutation_p.L491V|NRCAM_ENST00000351718.4_Missense_Mutation_p.L504V|NRCAM_ENST00000425651.2_Missense_Mutation_p.L510V|NRCAM_ENST00000413765.2_Missense_Mutation_p.L491V			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	510	Ig-like 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GGAATTTCCAAAGTTCCATTT	0.343000													35	30					0	0	1	0	0
MCUR1	63933	broad.mit.edu	37	6	13794167	13794167	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:13794167C>T	ENST00000379170.4	-	7	1006	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_001031713.3	NP_001026883.1			mitochondrial calcium uniporter regulator 1																		AGCTTCTTTTCGTTCAATGAA	0.388000													17	28					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242756143	242756143	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:242756143A>C	ENST00000391969.2	+	4	967	c.256A>C	c.(256-258)Aac>Cac	p.N86H	NEU4_ENST00000404257.1_Missense_Mutation_p.N98H|NEU4_ENST00000405370.1_Missense_Mutation_p.N86H|NEU4_ENST00000325935.6_Missense_Mutation_p.N99H|NEU4_ENST00000407683.1_Missense_Mutation_p.N86H	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	86						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCGGTCCATGAACCCCTGCCC	0.677000													18	3					0	0	1	0	0
TLE6	79816	broad.mit.edu	37	19	2993567	2993567	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:2993567G>A	ENST00000246112.4	+	15	1725	c.1524G>A	c.(1522-1524)aaG>aaA	p.K508K	TLE6_ENST00000452088.1_Silent_p.K385K	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	385					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCGTCAAGTTCTCCCCCT	0.637000													31	35					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39703397	39703397	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:39703397C>T	ENST00000395670.3	-	32	4690	c.4271G>A	c.(4270-4272)cGa>cAa	p.R1424Q	KIF21A_ENST00000544797.2_Missense_Mutation_p.R1386Q|KIF21A_ENST00000361418.5_Missense_Mutation_p.R1423Q|KIF21A_ENST00000541463.2_Missense_Mutation_p.R1370Q|KIF21A_ENST00000361961.3_Missense_Mutation_p.R1410Q			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1423					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CGTTAGTGTTCGAATGCACTT	0.313000													13	16					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18740191	18740191	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:18740191C>A	ENST00000513874.1	-	8	920	c.781G>T	c.(781-783)Gac>Tac	p.D261Y	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	261	Ig-like 2.							p.D261N(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ACATTGGGGTCTTTCAGTTCC	0.483000													34	57					1.36161e-19	1.73429e-19	1	1	0
RECQL5	9400	broad.mit.edu	37	17	73627573	73627573	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:73627573C>T	ENST00000317905.5	-	9	1564	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	RECQL5_ENST00000423245.2_Missense_Mutation_p.E442K|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	469					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCATACAGCTCGGGGTCAAAG	0.672000								Other identified genes with known or suspected DNA repair function					40	58					0	0	1	0	0
PDCL	5082	broad.mit.edu	37	9	125585446	125585446	+	Missense_Mutation	SNP	C	C	T	rs142225368		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:125585446C>T	ENST00000259467.4	-	3	368	c.203G>A	c.(202-204)cGc>cAc	p.R68H		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	68					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						CTGCTTGAAGCGGCGCCAGTC	0.532000													81	103					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104739	168104739	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:168104739G>T	ENST00000409195.1	+	9	6926	c.6837G>T	c.(6835-6837)gaG>gaT	p.E2279D	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2057D|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2279D|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2104					actin cytoskeleton organization	cell junction	actin binding			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						TTAACCCTGAGAATAATGTAA	0.413000													47	54					2.77807e-22	3.62324e-22	1	1	0
NFKB1	4790	broad.mit.edu	37	4	103505859	103505859	+	Silent	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:103505859T>G	ENST00000226574.4	+	11	1415	c.948T>G	c.(946-948)acT>acG	p.T316T	NFKB1_ENST00000600343.1_Silent_p.T135T|NFKB1_ENST00000505458.1_Silent_p.T315T|NFKB1_ENST00000394820.4_Silent_p.T315T	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	315	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TCTTCAAAACTCCAAAGTATA	0.363000													12	63					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22664492	22664492	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:22664492T>C	ENST00000400546.1	+	5	799	c.550T>C	c.(550-552)Tac>Cac	p.Y184H	NCAM2_ENST00000284894.7_Missense_Mutation_p.Y42H|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Missense_Mutation_p.Y209H	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	184	Ig-like C2-type 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGAAGGTATATACAGATGTGA	0.363000													28	43					0	0	1	0	0
BCL2L10	10017	broad.mit.edu	37	15	52402098	52402098	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:52402098G>A	ENST00000561198.1	-	2	673	c.632C>T	c.(631-633)tCt>tTt	p.S211F	BCL2L10_ENST00000260442.3_Silent_p.L188L			Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	0					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		AAGCATGACAGAAAAGCCTGG	0.438000													101	112					0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36884537	36884537	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:36884537G>T	ENST00000392161.3	-	5	947	c.705C>A	c.(703-705)ttC>ttA	p.F235L	ZFP82_ENST00000392171.1_Missense_Mutation_p.F235L	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CACCACATATGAAAGCTTCCC	0.428000													72	65					2.73218e-42	3.85265e-42	1	1	0
TMEM39B	55116	broad.mit.edu	37	1	32566248	32566248	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:32566248G>T	ENST00000427288.1	+	9	1456	c.976G>T	c.(976-978)Gaa>Taa	p.E326*	TMEM39B_ENST00000487305.1_Intron|TMEM39B_ENST00000336294.5_Intron|TMEM39B_ENST00000373634.4_Intron			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	0						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CATTGCAAGAGAAAGCTATTT	0.512000													11	16					0.00829132	0.0084208	1	1	0
TRBV7-6	28592	broad.mit.edu	37	7	142139460	142139460	+	RNA	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:142139460T>C	ENST00000390374.3	-	0	209																											CCAGGGCCTGTCGGTACCAAT	0.517000													40	56					0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465903	24465903	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:24465903C>T	ENST00000382137.3	-	3	595	c.527G>A	c.(526-528)gGa>gAa	p.G176E	C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G176E|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Intron	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	176	Collagen-like 3.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCCCCGGACTCCTGGCTCACC	0.592000													25	66					0	0	1	0	0
ZDHHC22	283576	broad.mit.edu	37	14	77605614	77605614	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:77605614G>A	ENST00000319374.4	-	2	670	c.468C>T	c.(466-468)ttC>ttT	p.F156F	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	156				CLYSMVAGVAYISAVLSISFAHPL -> QELTRGLRKEVAA GPAGPHVQCRK (in Ref. 1; BAC04590).		integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGGGGTGGGCGAAGGAGATGG	0.622000													4	5					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153914558	153914558	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:153914558G>A	ENST00000361217.4	-	6	1260	c.842C>T	c.(841-843)gCg>gTg	p.A281V		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	281										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTTGGGAACGCCTCGTAGAA	0.682000													14	14					0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48539577	48539577	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:48539577A>C	ENST00000427954.2	+	6	658	c.615A>C	c.(613-615)caA>caC	p.Q205H	ACSF2_ENST00000502667.1_Missense_Mutation_p.Q167H|ACSF2_ENST00000300441.4_Missense_Mutation_p.Q180H|ACSF2_ENST00000541920.1_Missense_Mutation_p.Q20H|ACSF2_ENST00000504392.1_Missense_Mutation_p.Q137H			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	180					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCCCCAAGCAATTCAAGACCC	0.597000													27	40					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58330276	58330276	+	Missense_Mutation	SNP	G	G	A	rs151100675	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:58330276G>A	ENST00000371015.1	+	4	865	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	PHACTR3_ENST00000355648.4_Missense_Mutation_p.R92Q|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R92Q|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R92Q|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R92Q|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R92Q|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R130Q	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	133						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GGAGGACCCCGATCTGTACAG	0.582000													12	32					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74892399	74892399	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:74892399C>T	ENST00000241436.4	+	13	2053	c.1881C>T	c.(1879-1881)tgC>tgT	p.C627C	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Silent_p.C537C|POLK_ENST00000352007.5_Silent_p.C429C|POLK_ENST00000504026.1_Intron|POLK_ENST00000508526.1_Silent_p.C429C	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	627					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTCCTGTTTGCTTTAGGGCTC	0.373000								DNA polymerases (catalytic subunits)					62	76					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12384012	12384012	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:12384012C>T	ENST00000356109.5	-	5	1320	c.1202G>A	c.(1201-1203)cGa>cAa	p.R401Q	ZNF44_ENST00000355684.5_Missense_Mutation_p.R353Q	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TTCATGAATTCGTGCTGAACC	0.408000													56	75					0	0	1	0	0
MSN	4478	broad.mit.edu	37	X	64957101	64957101	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:64957101C>T	ENST00000360270.5	+	10	1324	c.1152C>T	c.(1150-1152)agC>agT	p.S384S		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	384					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GTGCCCAGAGCGAGGCTGAAA	0.577000			T	ALK	ALCL								10	0					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63974872	63974872	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:63974872C>T	ENST00000279227.5	+	2	131	c.36C>T	c.(34-36)atC>atT	p.I12I	FERMT3_ENST00000345728.5_Silent_p.I12I	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	12					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGGACTACATCGACTCGTCAT	0.667000													28	29					0	0	1	0	0
CUTA	51596	broad.mit.edu	37	6	33384906	33384906	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:33384906C>T	ENST00000374500.5	-	4	519	c.388G>A	c.(388-390)Ggg>Agg	p.G130R	CUTA_ENST00000607266.1_Missense_Mutation_p.G88R|CUTA_ENST00000494751.1_Missense_Mutation_p.G88R|CUTA_ENST00000488034.1_Missense_Mutation_p.G111R|CUTA_ENST00000488478.1_Missense_Mutation_p.G111R|CUTA_ENST00000374496.3_Missense_Mutation_p.G88R|CUTA_ENST00000440279.3_Missense_Mutation_p.G88R	NM_001014433.2	NP_001014433.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	111					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						TCGATCTTCCCTTTCCACTCA	0.507000													36	42					0	0	1	0	0
FGF9	2254	broad.mit.edu	37	13	22275446	22275446	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:22275446A>G	ENST00000382353.5	+	3	1029	c.499A>G	c.(499-501)Aat>Gat	p.N167D	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	167					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		TGTTGCATTAAATAAAGATGG	0.428000													37	55					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768705	31768705	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:31768705C>T	ENST00000240587.4	-	2	2321	c.1994G>A	c.(1993-1995)cGc>cAc	p.R665H		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	665					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTCCTGGCTGCGGAAGCCCCC	0.662000													15	20					0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052948	15052948	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:15052948C>A	ENST00000248072.3	+	1	648	c.648C>A	c.(646-648)ttC>ttA	p.F216L		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GAATCCTATTCTCTTATTCTC	0.468000													37	46					2.75727e-19	3.49775e-19	1	1	0
C5AR1	728	broad.mit.edu	37	19	47823118	47823118	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:47823118A>C	ENST00000355085.3	+	2	106	c.84A>C	c.(82-84)aaA>aaC	p.K28N		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	28					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CTGTGGATAAAACTTCTAACA	0.527000													47	65					0	0	1	0	0
ZWILCH	55055	broad.mit.edu	37	15	66828398	66828398	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:66828398C>A	ENST00000307897.5	+	15	1849	c.1469C>A	c.(1468-1470)tCt>tAt	p.S490Y	ZWILCH_ENST00000446801.2_Missense_Mutation_p.S376Y|ZWILCH_ENST00000565627.1_Missense_Mutation_p.S376Y|ZWILCH_ENST00000535141.2_Missense_Mutation_p.S376Y	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	490					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						CTCCTCTTTTCTTTAACACAG	0.303000													15	11					2.32078e-09	2.58765e-09	1	1	0
SACS	26278	broad.mit.edu	37	13	23915006	23915006	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:23915006A>C	ENST00000382298.3	-	10	3597	c.3009T>G	c.(3007-3009)ttT>ttG	p.F1003L	SACS_ENST00000382292.3_Missense_Mutation_p.F1003L|SACS_ENST00000402364.1_Missense_Mutation_p.F253L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1003					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CATGTGAATAAAATGCATTTT	0.343000													59	68					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031290	79031290	+	Silent	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:79031290T>G	ENST00000446378.2	+	2	6733	c.6702T>G	c.(6700-6702)gcT>gcG	p.A2234A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2234						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAACCAGCTGATCATTCAT	0.383000													84	92					0	0	1	0	0
ZNF396	252884	broad.mit.edu	37	18	32949573	32949573	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:32949573G>T	ENST00000306346.1	-	4	745	c.614C>A	c.(613-615)tCt>tAt	p.S205Y	ZNF396_ENST00000589332.1_Missense_Mutation_p.S205Y	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	205					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TATGCCTAAAGAAGTCTTTTG	0.373000													42	41					1.68508e-10	1.90635e-10	1	1	0
TCHP	84260	broad.mit.edu	37	12	110341854	110341854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:110341854G>T	ENST00000312777.5	+	3	515	c.301G>T	c.(301-303)Gaa>Taa	p.E101*	TCHP_ENST00000405876.4_Nonsense_Mutation_p.E101*	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	101	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GCTGGCCAGAGAACTGGAGGA	0.567000													5	5					8.12818e-05	8.45312e-05	1	1	0
CCDC11	220136	broad.mit.edu	37	18	47769276	47769276	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:47769276C>A	ENST00000398545.4	-	6	1324	c.1207G>T	c.(1207-1209)Gaa>Taa	p.E403*		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	403										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTACACTTTTCTTGAACTTGA	0.348000													9	149					3.09899e-07	3.35435e-07	1	1	0
SCN9A	6335	broad.mit.edu	37	2	167083097	167083097	+	Missense_Mutation	SNP	A	A	C	rs80356478		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:167083097A>C	ENST00000303354.6	-	24	4721	c.4381T>G	c.(4381-4383)Ttc>Gtc	p.F1461V	SCN9A_ENST00000409672.1_Missense_Mutation_p.F1449V|SCN9A_ENST00000409435.1_Missense_Mutation_p.F1460V|SCN9A_ENST00000375387.4_Missense_Mutation_p.F1461V|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1460						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGTTGGTTGAAATTATCTATG	0.259000													7	5					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96058153	96058153	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:96058153C>T	ENST00000371380.3	+	23	5420	c.5185C>T	c.(5185-5187)Cga>Tga	p.R1729*	PLCE1_ENST00000371375.1_Nonsense_Mutation_p.R1421*|PLCE1_ENST00000260766.3_Nonsense_Mutation_p.R1729*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.R1421*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1		Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity).				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGAAGGCATTCGACAGACCTG	0.428000													40	23					0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38437043	38437043	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:38437043G>T	ENST00000207870.3	+	16	1429	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	XYLB_ENST00000472721.1_3'UTR|XYLB_ENST00000542835.1_Nonsense_Mutation_p.E310*	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	447					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TCACAATAGAGAAATCTTACA	0.458000													20	31					1.01871e-10	1.15764e-10	1	1	0
NPY2R	4887	broad.mit.edu	37	4	156135248	156135248	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:156135248C>A	ENST00000329476.3	+	2	646	c.157C>A	c.(157-159)Ctc>Atc	p.L53I	NPY2R_ENST00000506608.1_Missense_Mutation_p.L53I	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	53					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ACAAGTTGTTCTCATATTGGC	0.473000													20	29					5.26018e-13	6.14379e-13	1	1	0
KCNC2	3747	broad.mit.edu	37	12	75601254	75601254	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:75601254C>A	ENST00000549446.1	-	2	1190	c.510G>T	c.(508-510)gaG>gaT	p.E170D	KCNC2_ENST00000298972.1_Missense_Mutation_p.E170D|KCNC2_ENST00000341669.3_Missense_Mutation_p.E170D|KCNC2_ENST00000350228.2_Missense_Mutation_p.E170D|KCNC2_ENST00000550433.1_Missense_Mutation_p.E170D|KCNC2_ENST00000548513.1_Missense_Mutation_p.E170D|KCNC2_ENST00000540018.1_Missense_Mutation_p.E170D|KCNC2_ENST00000393288.2_Missense_Mutation_p.E170D	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	170					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GGTCGGGGGTCTCGAAGATGT	0.721000													7	22					5.18039e-06	5.50011e-06	1	1	0
TUBGCP2	10844	broad.mit.edu	37	10	135106172	135106172	+	Missense_Mutation	SNP	C	C	T	rs145003131		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:135106172C>T	ENST00000368563.2	-	8	1401	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	TUBGCP2_ENST00000252936.3_Missense_Mutation_p.E349K|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.E219K|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.E377K	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	349					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CCAAGACATTCGCCTTTGTCC	0.627000													14	19					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93213157	93213157	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:93213157T>G	ENST00000322349.8	-	14	1919	c.1655A>C	c.(1654-1656)aAa>aCa	p.K552T		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	552	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AGCCTGAATTTTTGCATAAAG	0.333000													29	36					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5244386	5244386	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:5244386C>T	ENST00000372412.4	-	11	1332	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	PTPRS_ENST00000588012.1_Missense_Mutation_p.E353K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.E353K|PTPRS_ENST00000348075.2_Missense_Mutation_p.E353K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E353K|PTPRS_ENST00000357368.4_Missense_Mutation_p.E366K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E362K|PTPRS_ENST00000587303.1_Missense_Mutation_p.E366K			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	366	Fibronectin type-III 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GATTTATATTCGATGACGTAA	0.547000													33	47					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39792785	39792785	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:39792785G>T	ENST00000373272.2	+	12	1566	c.1161G>T	c.(1159-1161)aaG>aaT	p.K387N	PLCG1_ENST00000244007.3_Missense_Mutation_p.K387N|PLCG1_ENST00000373271.1_Missense_Mutation_p.K387N	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	387	PI-PLC X-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TTACCACCAAGATCAAGTTCT	0.577000													51	61					1.11015e-26	1.49129e-26	1	1	0
RPRD1A	55197	broad.mit.edu	37	18	33613714	33613714	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:33613714C>A	ENST00000399022.4	-	2	409	c.238G>T	c.(238-240)Gat>Tat	p.D80Y	RPRD1A_ENST00000337059.5_Missense_Mutation_p.D44Y|RPRD1A_ENST00000319040.6_Missense_Mutation_p.D80Y|RPRD1A_ENST00000590898.1_Missense_Mutation_p.D44Y|RPRD1A_ENST00000357384.4_Missense_Mutation_p.D80Y|RPRD1A_ENST00000588737.1_Missense_Mutation_p.D44Y	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	80	CID.									NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GGTGCAAAATCTTTTGTAAAC	0.368000													35	30					1.26612e-14	1.51395e-14	1	1	0
PHYKPL	85007	broad.mit.edu	37	5	177658431	177658431	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:177658431G>A	ENST00000308158.5	-	2	387	c.153C>T	c.(151-153)atC>atT	p.I51I	PHYKPL_ENST00000476170.2_Silent_p.I51I	NM_153373.2	NP_699204.1			5-phosphohydroxy-L-lysine phospho-lyase																		TGATGCAATCGATGTATTCTG	0.557000													85	75					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76841690	76841690	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:76841690C>A	ENST00000409709.3	+	2	282	c.10C>A	c.(10-12)Ctt>Att	p.L4I	MYO7A_ENST00000458637.2_Missense_Mutation_p.L4I|MYO7A_ENST00000409893.1_Missense_Mutation_p.L4I|MYO7A_ENST00000409619.2_5'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	4	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CATGGTGATTCTTCAGCAGGT	0.607000													11	12					0.0135373	0.0137121	1	1	0
ZNF709	163051	broad.mit.edu	37	19	12576173	12576173	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:12576173C>A	ENST00000397732.3	-	4	734	c.563G>T	c.(562-564)aGa>aTa	p.R188I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.R188I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						AGTATGAGTTCTTTCATGTAT	0.413000													43	44					5.44703e-19	6.88691e-19	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168102025	168102025	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:168102025A>G	ENST00000409195.1	+	9	4212	c.4123A>G	c.(4123-4125)Aca>Gca	p.T1375A	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1153A|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1375A|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1200					actin cytoskeleton organization	cell junction	actin binding			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						TAAATCTGTCACACAAGAAGA	0.363000													36	43					0	0	1	0	0
CCDC47	57003	broad.mit.edu	37	17	61841470	61841470	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:61841470C>A	ENST00000225726.5	-	4	835	c.453G>T	c.(451-453)atG>atT	p.M151I	CCDC47_ENST00000582252.1_Missense_Mutation_p.M151I|CCDC47_ENST00000403162.3_Missense_Mutation_p.M151I	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	151						integral to membrane	protein binding	p.M151I(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TGATGTAATTCATGATATAAG	0.403000													37	46					3.62531e-18	4.54164e-18	1	1	0
MAP1B	4131	broad.mit.edu	37	5	71482445	71482445	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:71482445G>A	ENST00000296755.7	+	4	672	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	125						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)		TTTCAGGTGCGCTTAATGATC	0.552000													51	58					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70406337	70406337	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:70406337C>A	ENST00000373644.4	+	4	4060	c.3851C>A	c.(3850-3852)tCt>tAt	p.S1284Y		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1284					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GCTTATAATTCTCAGGTACAG	0.463000													35	52					1.61788e-16	1.98668e-16	1	1	0
INPPL1	3636	broad.mit.edu	37	11	71949215	71949215	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:71949215C>A	ENST00000298229.2	+	27	3886	c.3682C>A	c.(3682-3684)Ctc>Atc	p.L1228I	INPPL1_ENST00000538751.1_Missense_Mutation_p.L986I|INPPL1_ENST00000541756.1_Missense_Mutation_p.L986I	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1228	SAM.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCTGGAGTTTCTCAGGTGGGG	0.662000											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	9					2.74318e-10	3.09944e-10	1	1	0
FBXO30	84085	broad.mit.edu	37	6	146121439	146121439	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:146121439G>A	ENST00000237281.4	-	3	2207	c.2041C>T	c.(2041-2043)Cga>Tga	p.R681*		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	681							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GTACTAAATCGCCATACCTAC	0.343000													32	31					0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144378845	144378845	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:144378845A>C	ENST00000262995.4	+	7	2025	c.1598A>C	c.(1597-1599)aAa>aCa	p.K533T	GAB1_ENST00000505913.1_Intron|GAB1_ENST00000262994.4_Intron	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	526	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					CAAAGTCCTAAAATTTTAAGA	0.313000													3	15					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8996318	8996318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:8996318G>A	ENST00000344836.4	-	17	2059	c.1861C>T	c.(1861-1863)Cga>Tga	p.R621*	USP7_ENST00000381886.4_Nonsense_Mutation_p.R605*|USP7_ENST00000535863.1_Nonsense_Mutation_p.R522*	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	621					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GGCCACAATCGAATTTGATCT	0.333000													14	15					0	0	1	0	0
ERCC5	2073	broad.mit.edu	37	13	103504585	103504585	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:103504585G>A	ENST00000355739.4	+	2	1629	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	ERCC5_ENST00000535557.1_Missense_Mutation_p.R69Q|BIVM-ERCC5_ENST00000602836.1_Silent_p.S494S	NM_000123.3	NP_000114			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTATTTTTTCGAATTCGTCCT	0.373000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				25	30					0	0	1	0	0
POLR2C	5432	broad.mit.edu	37	16	57505026	57505026	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:57505026A>C	ENST00000219252.5	+	9	1161	c.823A>C	c.(823-825)Aat>Cat	p.N275H		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	275					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						GCTAACCATAAATTAACTGCA	0.448000													44	39					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179743987	179743987	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:179743987G>A	ENST00000253778.8	-	11	1199	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	344					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AAATTCACCCGACCTCTCATA	0.473000													50	64					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96859815	96859815	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:96859815C>T	ENST00000375360.3	+	7	1145	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	PTPDC1_ENST00000288976.3_Missense_Mutation_p.R321C	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	269							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						ATATCTAATTCGCCAGCGTCA	0.438000													49	56					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138714552	138714552	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:138714552C>T	ENST00000520602.1	-	5	578	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	MCF2_ENST00000370578.4_Missense_Mutation_p.R183Q|MCF2_ENST00000370573.4_Missense_Mutation_p.R38Q|MCF2_ENST00000338585.6_Missense_Mutation_p.R38Q|MCF2_ENST00000414978.1_Missense_Mutation_p.R98Q|MCF2_ENST00000519895.1_Missense_Mutation_p.R98Q|MCF2_ENST00000536274.1_Missense_Mutation_p.R38Q|MCF2_ENST00000370576.4_Missense_Mutation_p.R38Q			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	38					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TGTGAACGTTCGTTGAAGAAA	0.343000													56	1					0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89256662	89256662	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:89256662T>C	ENST00000289746.2	+	8	1055	c.990T>C	c.(988-990)taT>taC	p.Y330Y		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	330	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCCTGGACTATGAGAGCTGTG	0.652000													8	11					0	0	1	0	0
DCAF12	25853	broad.mit.edu	37	9	34107461	34107461	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:34107461T>C	ENST00000361264.4	-	3	777	c.436A>G	c.(436-438)Atc>Gtc	p.I146V	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	146						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TTCAGCTCGATGGCATGGATA	0.532000													48	50					0	0	1	0	0
COPZ1	22818	broad.mit.edu	37	12	54741572	54741572	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:54741572A>C	ENST00000262061.2	+	6	376	c.339A>C	c.(337-339)gcA>gcC	p.A113A	COPZ1_ENST00000416254.2_Silent_p.A62A|COPZ1_ENST00000455864.2_Silent_p.A90A|COPZ1_ENST00000552362.1_Silent_p.A113A|COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000549043.1_Silent_p.A121A|COPZ1_ENST00000548753.1_Silent_p.A25A|COPZ1_ENST00000551779.1_Silent_p.A113A|COPZ1_ENST00000552218.1_Silent_p.A134A|COPZ1_ENST00000549116.1_Silent_p.A55A|COPZ1_ENST00000553231.1_Silent_p.A90A	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	113					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						AAAAGCGAGCACTGCTGGAGA	0.468000													20	36					0	0	1	0	0
HERC5	51191	broad.mit.edu	37	4	89414216	89414216	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:89414216C>A	ENST00000264350.3	+	17	2340	c.2187C>A	c.(2185-2187)ttC>ttA	p.F729L	HERC5_ENST00000508159.1_Missense_Mutation_p.F367L	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	729	HECT.				innate immune response|ISG15-protein conjugation|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)		AGAAAGAGTTCTTCTACTGTC	0.448000													38	42					1.59932e-28	2.17693e-28	1	1	0
ARID3C	138715	broad.mit.edu	37	9	34622457	34622457	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:34622457T>G	ENST00000378909.2	-	5	1027	c.935A>C	c.(934-936)aAa>aCa	p.K312T		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	312	Pro-rich.|REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TGGTGCCAATTTCTCCCGTGT	0.597000													35	44					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115320353	115320353	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:115320353G>A	ENST00000357872.4	+	3	1049	c.925G>A	c.(925-927)Gca>Aca	p.A309T	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		309					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.A309T(2)									TTACTTAGTCGCATTTGTTAT	0.433000													19	17					0	0	1	0	0
IGLV3-9	28804	broad.mit.edu	37	22	23162147	23162147	+	RNA	SNP	C	C	A	rs142285633	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:23162147C>A	ENST00000390316.2	+	0	355																											CTGAGCGATTCTCTGGCTCCA	0.587000													5	82					0.014758	0.0149174	1	1	0
RNF19B	127544	broad.mit.edu	37	1	33415361	33415361	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:33415361G>A	ENST00000356990.5	-	2	649	c.650C>T	c.(649-651)gCc>gTc	p.A217V	RNF19B_ENST00000373456.7_Missense_Mutation_p.A217V|RNF19B_ENST00000235150.4_Missense_Mutation_p.A217V	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	217						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACAGCCATAGGCAATAACAGC	0.428000													22	31					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468143	10468143	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:10468143C>A	ENST00000382483.3	-	4	3688	c.3465G>T	c.(3463-3465)aaG>aaT	p.K1155N		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1155					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCACAGGTCCTTCGAGATGC	0.587000													27	45					3.01185e-09	3.34629e-09	1	1	0
SV2C	22987	broad.mit.edu	37	5	75621215	75621215	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:75621215C>T	ENST00000502798.2	+	13	2469	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	SV2C_ENST00000322285.7_Intron	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	676					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)		TTCTTAAATGCGCTATGCAAG	0.478000													48	35					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134646941	134646941	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:134646941G>A	ENST00000368586.5	-	50	7138	c.7038C>T	c.(7036-7038)ttC>ttT	p.F2346F	TTC40_ENST00000263170.5_Silent_p.F507F	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	507										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TCCCTTCATCGAACACAGAGA	0.517000													40	42					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20124944	20124944	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:20124944G>A	ENST00000396085.1	+	34	6931	c.6570G>A	c.(6568-6570)aaG>aaA	p.K2190K	NAV2_ENST00000396087.3_Silent_p.K2246K|NAV2_ENST00000540292.1_Silent_p.K2177K|NAV2_ENST00000360655.4_Silent_p.K2123K|NAV2_ENST00000527559.2_Silent_p.K2175K|NAV2_ENST00000311043.8_Silent_p.K1251K|NAV2_ENST00000349880.4_Silent_p.K2187K|NAV2_ENST00000533917.1_Silent_p.K1251K	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2246						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCAACTGCAAGTACCACAAAT	0.577000													5	94					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428602	10428602	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:10428602T>C	ENST00000245503.5	-	33	4985	c.4601A>G	c.(4600-4602)aAa>aGa	p.K1534R	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K1534R|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1534					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTCTTTATTTTCTCCAGTTC	0.378000													31	21					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27109613	27109613	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:27109613C>T	ENST00000380036.4	+	1	467	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	TEK_ENST00000406359.4_Missense_Mutation_p.L9F|TEK_ENST00000519097.1_Missense_Mutation_p.L9F	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	9					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CAGCTTAGTTCTCTGTGGAGT	0.423000													52	90					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89061060	89061060	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:89061060C>A	ENST00000237612.3	-	2	633	c.88G>T	c.(88-90)Gca>Tca	p.A30S	ABCG2_ENST00000515655.1_Missense_Mutation_p.A30S	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	30					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TCAGTAAATGCCTTCAGGTCA	0.418000													11	15					1.58986e-06	1.70119e-06	1	1	0
IKBKAP	8518	broad.mit.edu	37	9	111644045	111644045	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:111644045C>T	ENST00000374647.5	-	31	3593	c.3286G>A	c.(3286-3288)Gta>Ata	p.V1096I	IKBKAP_ENST00000537196.1_Splice_Site_p.V747I|IKBKAP_ENST00000467959.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1096					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TATTTGTATACCTAGAAGGAA	0.333000													9	11					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26676223	26676223	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:26676223G>A	ENST00000288710.2	+	14	1799	c.1725G>A	c.(1723-1725)gcG>gcA	p.A575A		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		TGGAGAAGGCGAGCATGGAGG	0.572000													17	50					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38952003	38952003	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:38952003C>T	ENST00000359357.3	+	85	12576	c.12322C>T	c.(12322-12324)Cgg>Tgg	p.R4108W	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4072W					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAATACGGTTCGGTACATGAT	0.358000													34	41					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24959170	24959170	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:24959170A>G	ENST00000396432.2	-	3	706	c.220T>C	c.(220-222)Tct>Cct	p.S74P		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	73	PDZ.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGAATTGCAGACTCTGGGGGA	0.383000													29	29					0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32007544	32007544	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:32007544C>A	ENST00000418967.2	+	6	828	c.670C>A	c.(670-672)Ctc>Atc	p.L224I	CYP21A2_ENST00000435122.2_Missense_Mutation_p.L194I	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	223					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						CAATCCAGGTCTCCGGAGGCT	0.617000													10	13					0.000673444	0.000691067	1	1	0
C1orf112	55732	broad.mit.edu	37	1	169770023	169770023	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:169770023G>T	ENST00000286031.6	+	3	677		c.e3-1		C1orf112_ENST00000456684.1_Splice_Site|C1orf112_ENST00000498289.1_Splice_Site|C1orf112_ENST00000359326.4_Splice_Site|C1orf112_ENST00000413811.2_Intron	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112											breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGCTTTACAGAAATTTTGAA	0.299000													6	14					0.0215528	0.0217485	1	1	0
SIX1	6495	broad.mit.edu	37	14	61113285	61113285	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:61113285C>T	ENST00000247182.6	-	2	843	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	SIX1_ENST00000554986.1_Missense_Mutation_p.E18K	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	191					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		TTATTGTTTTCGGTGTTCTCC	0.428000													23	30					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23545473	23545473	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:23545473G>T	ENST00000300619.7	-	4	513	c.308C>A	c.(307-309)tCt>tAt	p.S103Y	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S71Y	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	103						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTTTGAAAAGAATCTTCCAT	0.323000													39	42					7.33879e-07	7.90342e-07	1	1	0
DCTN1	1639	broad.mit.edu	37	2	74600064	74600064	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:74600064C>T	ENST00000361874.3	-	7	761	c.444G>A	c.(442-444)cgG>cgA	p.R148R	DCTN1_ENST00000409438.1_Silent_p.R14R|DCTN1_ENST00000407639.2_Silent_p.R14R|DCTN1_ENST00000409868.1_Silent_p.R131R|DCTN1_ENST00000409240.1_Intron|DCTN1_ENST00000394003.3_Silent_p.R141R|DCTN1_ENST00000409567.3_Intron	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	148					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTTGGGTCGCCGAGTTGTGG	0.517000													27	28					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142775279	142775279	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:142775279A>C	ENST00000397933.2	+	27	3132	c.1850A>C	c.(1849-1851)aAa>aCa	p.K617T	U2SURP_ENST00000473835.2_Missense_Mutation_p.K1026T|U2SURP_ENST00000493598.2_Missense_Mutation_p.K1025T			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	1026	CID.				RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AAGTCAAAGAAAAACAAACAC	0.363000													15	22					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125976	58125976	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:58125976C>A	ENST00000357377.3	-	1	566	c.567G>T	c.(565-567)gaG>gaT	p.E189D		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAATGTGTTTCTCAGAGCAGG	0.363000													23	31					2.98393e-07	3.23441e-07	1	1	0
ZNF565	147929	broad.mit.edu	37	19	36674504	36674504	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:36674504C>T	ENST00000355114.5	-	5	1210	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	ZNF565_ENST00000392173.2_Missense_Mutation_p.E122K|ZNF565_ENST00000304116.5_Missense_Mutation_p.E122K			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AACTGGCCTTCGCATTCCCAG	0.458000													92	96					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579128	33579128	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:33579128A>G	ENST00000228567.3	-	2	750	c.454T>C	c.(454-456)Tta>Cta	p.L152L	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	152						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TGTTTAATTAAATGTTCTTTT	0.403000													89	90					0	0	1	0	0
PMM1	5372	broad.mit.edu	37	22	41973848	41973848	+	Silent	SNP	G	G	A	rs147852789		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:41973848G>A	ENST00000216259.7	-	7	714	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	210					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						GGATGGTGTCGAAGCTGTCCT	0.607000													37	42					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54964090	54964090	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:54964090G>A	ENST00000243052.3	+	6	979	c.543G>A	c.(541-543)agG>agA	p.R181R	PDE1B_ENST00000550620.1_Silent_p.R161R|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Silent_p.R140R	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	181					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						ATGCCCTGAGGACCATTGTTT	0.498000													30	55					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21562107	21562107	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:21562107G>A	ENST00000382592.4	-	4	2217	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F	LATS2_ENST00000542899.1_Silent_p.F604F	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	604					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GCTCCATGAAGAACTTAAAGG	0.498000													68	106					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34014374	34014374	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:34014374A>C	ENST00000297161.2	+	7	928	c.554A>C	c.(553-555)aAa>aCa	p.K185T	BMPER_ENST00000426693.1_Missense_Mutation_p.K185T	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	185	VWFC 3.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GAAGGAAGCAAATGTACCAAG	0.502000													45	66					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121742374	121742374	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:121742374C>A	ENST00000264808.3	-	4	667	c.427G>T	c.(427-429)Gaa>Taa	p.E143*	PRDM5_ENST00000515109.1_Nonsense_Mutation_p.E143*|PRDM5_ENST00000428209.2_Nonsense_Mutation_p.E143*	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	143					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACTTCCCCTTCTTTGATGACT	0.403000													61	86					2.6711e-34	3.7077e-34	1	1	0
IRF2BP1	26145	broad.mit.edu	37	19	46388223	46388223	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:46388223G>A	ENST00000302165.3	-	1	1153	c.810C>T	c.(808-810)ttC>ttT	p.F270F		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GCTTCAGCTCGAACTCGTATC	0.622000													65	6					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73820105	73820105	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:73820105A>C	ENST00000334126.7	-	12	2162	c.1936T>G	c.(1936-1938)Tat>Gat	p.Y646D	C2CD3_ENST00000313663.7_Missense_Mutation_p.Y646D			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	646						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTCTTTACATAAATTTGGAAA	0.403000													24	34					0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73228994	73228994	+	Missense_Mutation	SNP	G	G	A	rs142787021		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:73228994G>A	ENST00000447371.2	+	14	1365	c.941G>A	c.(940-942)cGc>cAc	p.R314H	NUP85_ENST00000541827.1_Missense_Mutation_p.R436H|NUP85_ENST00000540768.1_Missense_Mutation_p.R85H|NUP85_ENST00000579324.1_Missense_Mutation_p.R370H|NUP85_ENST00000245544.4_Missense_Mutation_p.R482H|NUP85_ENST00000579298.1_Missense_Mutation_p.R437H			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	482					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CGCAACAATCGCCTGGGTTCT	0.537000													87	93					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6712908	6712908	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:6712908G>A	ENST00000377577.5	-	6	734	c.611C>T	c.(610-612)tCg>tTg	p.S204L	DNAJC11_ENST00000349363.6_Missense_Mutation_p.S166L|DNAJC11_ENST00000377573.5_Missense_Mutation_p.S114L|DNAJC11_ENST00000542246.1_Missense_Mutation_p.S166L|DNAJC11_ENST00000294401.7_Missense_Mutation_p.S204L	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	204					protein folding		heat shock protein binding|unfolded protein binding	p.S204L(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTTTGCCGAAGTTACTCG	0.483000													38	49					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9496171	9496171	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:9496171G>T	ENST00000246070.2	+	2	628	c.136G>T	c.(136-138)Gat>Tat	p.D46Y	LAMP5_ENST00000427562.2_Missense_Mutation_p.D46Y	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	46						integral to membrane											CCCTGAAAAAGATATATTTGT	0.433000													34	47					9.65021e-13	1.12466e-12	1	1	0
GMDS	2762	broad.mit.edu	37	6	1624761	1624761	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:1624761G>A	ENST00000380815.4	-	10	1271	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G	GMDS_ENST00000530927.1_Silent_p.G304G|GMDS_ENST00000467288.2_5'UTR	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	334					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TGGTGCAGTCGCCCTGCAGAA	0.667000													18	14					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499258	75499258	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:75499258G>A	ENST00000360639.2	+	2	1189	c.869G>A	c.(868-870)cGc>cAc	p.R290H	C15orf39_ENST00000567617.1_Missense_Mutation_p.R290H|C15orf39_ENST00000394987.4_Missense_Mutation_p.R290H			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	290										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCAGCCTGTCGCCACCCAGAG	0.716000													9	14					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230498080	230498080	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:230498080C>T	ENST00000321327.2	-	3	359	c.360G>A	c.(358-360)ccG>ccA	p.P120P	PGBD5_ENST00000391860.1_Intron|PGBD5_ENST00000525115.1_Intron			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	17						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GATTATAGGGCGGCCGAGGCG	0.607000													12	24					0	0	1	0	0
NEK2	4751	broad.mit.edu	37	1	211840511	211840511	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:211840511T>G	ENST00000366999.4	-	7	1186	c.1048A>C	c.(1048-1050)Aat>Cat	p.N350H	NEK2_ENST00000366998.3_Missense_Mutation_p.N350H|NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000540251.1_Missense_Mutation_p.N307H	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	350	Interaction with PCNT.|Necessary for interaction with MAD1L1.|Required for microtubule binding and for localization to the centrosomes.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TTCAACAGATTTTCTGCTCTA	0.403000													38	55					0	0	1	0	0
ZFP30	22835	broad.mit.edu	37	19	38126909	38126909	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:38126909C>A	ENST00000351218.2	-	6	1090	c.533G>T	c.(532-534)aGa>aTa	p.R178I	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.R178I|ZFP30_ENST00000514101.2_Missense_Mutation_p.R178I	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTATGAATTCTTTGATGGAA	0.413000													54	57					1.72845e-40	2.43214e-40	1	1	0
OR8H1	219469	broad.mit.edu	37	11	56058083	56058083	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:56058083A>C	ENST00000313022.2	-	1	483	c.456T>G	c.(454-456)ttT>ttG	p.F152L		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGGAGTTGATAAAGCTAATCA	0.448000													60	54					0	0	1	0	0
SEC13	6396	broad.mit.edu	37	3	10354352	10354352	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:10354352G>A	ENST00000397117.1	-	4	776	c.185C>T	c.(184-186)tCg>tTg	p.S62L	SEC13_ENST00000397109.3_Missense_Mutation_p.S62L|SEC13_ENST00000350697.3_Missense_Mutation_p.S76L|SEC13_ENST00000337354.4_Missense_Mutation_p.S79L|SEC13_ENST00000383801.2_Missense_Mutation_p.S122L			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	76					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	p.S76L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						ATAGGAGCACGATGCCAGGAT	0.572000													57	72					0	0	1	0	0
MARK3	4140	broad.mit.edu	37	14	103933458	103933458	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:103933458A>C	ENST00000429436.2	+	11	1550	c.1040A>C	c.(1039-1041)gAa>gCa	p.E347A	MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Missense_Mutation_p.E370A|MARK3_ENST00000216288.7_Missense_Mutation_p.E347A|MARK3_ENST00000440884.3_Missense_Mutation_p.E268A|MARK3_ENST00000553942.1_Missense_Mutation_p.E347A|MARK3_ENST00000303622.9_Missense_Mutation_p.E347A|MARK3_ENST00000335102.5_Missense_Mutation_p.E370A	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	347	UBA.						ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GAAATTCAAGAATCTCTTAGT	0.328000													8	86					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4876485	4876485	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:4876485G>T	ENST00000361571.5	-	13	2673	c.2262C>A	c.(2260-2262)ttC>ttA	p.F754L	CAMTA2_ENST00000381311.5_Missense_Mutation_p.F757L|CAMTA2_ENST00000358183.4_Missense_Mutation_p.F755L|CAMTA2_ENST00000414043.3_Missense_Mutation_p.F778L|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000572543.1_Missense_Mutation_p.F760L|CAMTA2_ENST00000348066.3_Missense_Mutation_p.F755L	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	755					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGGTGCAAGAGAAATGATCCA	0.552000													30	42					3.11337e-16	3.81693e-16	1	1	0
TEX14	56155	broad.mit.edu	37	17	56638903	56638903	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:56638903C>A	ENST00000389934.3	-	30	4372	c.4255G>T	c.(4255-4257)Gac>Tac	p.D1419Y	TEX14_ENST00000240361.8_Missense_Mutation_p.D1425Y|TEX14_ENST00000584699.1_5'UTR|TEX14_ENST00000349033.5_Missense_Mutation_p.D1379Y	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1425						cytoplasm	ATP binding|protein kinase activity	p.D1425Y(1)|p.D1379Y(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGGGAAGGTCTTGTAGCTCC	0.478000													10	141					3.07112e-06	3.27107e-06	1	1	0
STRIP1	85369	broad.mit.edu	37	1	110593638	110593638	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:110593638C>T	ENST00000369795.3	+	19	2039	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	STRIP1_ENST00000369796.1_Missense_Mutation_p.R578W	NM_033088.3	NP_149079.2			striatin interacting protein 1																		CAATCTGCTTCGGATCTTGAA	0.473000													28	29					0	0	1	0	0
CYB5RL	606495	broad.mit.edu	37	1	54656537	54656537	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:54656537G>A	ENST00000419823.2	-	3	455	c.231C>T	c.(229-231)ttC>ttT	p.F77F	MRPL37_ENST00000487096.1_Intron|CYB5RL_ENST00000497820.1_Silent_p.F77F|CYB5RL_ENST00000401046.3_Intron|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000537208.1_Silent_p.F77F|CYB5RL_ENST00000534324.1_Silent_p.F77F|CYB5RL_ENST00000542737.1_Silent_p.F77F|CYB5RL_ENST00000287899.8_Silent_p.F77F	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	77	FAD-binding FR-type.						cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						AGAAGGCCACGAAGGTCTCTG	0.607000													6	16					0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78765723	78765723	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:78765723G>A	ENST00000258886.8	+	8	1172	c.1023G>A	c.(1021-1023)aaG>aaA	p.K341K	IREB2_ENST00000560440.1_Silent_p.K341K	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	341							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GTATTACAAAGGTAAGTTAAA	0.373000													16	38					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128852058	128852058	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:128852058G>T	ENST00000249373.3	+	12	2410	c.2130G>T	c.(2128-2130)caG>caT	p.Q710H	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	710					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGCCCCGGCAGAAATGCCTGG	0.682000			Mis		skin basal cell								4	8					0.150653	0.151135	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113347615	113347615	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:113347615G>T	ENST00000297405.5	-	45	7352	c.7108C>A	c.(7108-7110)Cta>Ata	p.L2370I	CSMD3_ENST00000343508.3_Missense_Mutation_p.L2330I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2266I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2300I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2370	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTTGATTAGAATCTGATTT	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	26					3.5997e-14	4.2784e-14	1	1	0
GPR125	166647	broad.mit.edu	37	4	22390058	22390058	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:22390058G>T	ENST00000334304.5	-	19	3505	c.3236C>A	c.(3235-3237)tCt>tAt	p.S1079Y	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1079					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CGTCCCATTAGAGTTGGGGGG	0.507000													22	36					3.83957e-06	4.08385e-06	1	1	0
PRR14L	253143	broad.mit.edu	37	22	32108125	32108125	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:32108125G>A	ENST00000327423.6	-	4	5889	c.5700C>T	c.(5698-5700)atC>atT	p.I1900I	PRR14L_ENST00000434485.1_Silent_p.I1900I|PRR14L_ENST00000397493.2_Silent_p.I1900I	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1900										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GAAGAGAAGAGATTTCGAAGG	0.502000													58	66					0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	155887	155887	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:155887G>T	ENST00000510175.1	+	0	1322							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CAACATAAGAGAACTCATACT	0.348000													7	11					0.0293803	0.0296024	1	1	0
OR4C6	219432	broad.mit.edu	37	11	55432757	55432757	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:55432757G>A	ENST00000314259.3	+	1	144	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CACAGTGCTGGAAAATCTACT	0.393000													62	56					0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6476109	6476109	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:6476109G>A	ENST00000297056.6	-	3	472	c.303C>T	c.(301-303)cgC>cgT	p.R101R	DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000425398.2_Silent_p.R101R|DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000436575.1_Silent_p.R60R|DAGLB_ENST00000479922.2_5'UTR	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	101					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		ACAGCGCCAGGCGGATGTAAA	0.527000													68	76					0	0	1	0	0
EEF1E1	9521	broad.mit.edu	37	6	8080237	8080237	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:8080237C>A	ENST00000379715.5	-	4	467	c.411G>T	c.(409-411)gaG>gaT	p.E137D	EEF1E1-BLOC1S5_ENST00000397456.2_Intron|EEF1E1_ENST00000429723.2_Intron	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	137	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					TAAGATATTTCTCCTTTTCTT	0.363000													38	47					1.96642e-18	2.46925e-18	1	1	0
UNC45B	146862	broad.mit.edu	37	17	33491161	33491161	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:33491161G>A	ENST00000268876.5	+	9	1224	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	UNC45B_ENST00000394570.2_Missense_Mutation_p.R376H|UNC45B_ENST00000433649.1_Missense_Mutation_p.R376H|UNC45B_ENST00000378449.1_Missense_Mutation_p.R376H|UNC45B_ENST00000591048.1_Missense_Mutation_p.R376H	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	376					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)				GATCACTTCCGCAAGATCTGT	0.507000													110	139					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50399146	50399146	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:50399146C>T	ENST00000284509.6	-	2	159	c.18G>A	c.(16-18)aaG>aaA	p.K6K	ATP8B4_ENST00000559829.1_Silent_p.K6K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	6					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CACGCAATTTCTTTTCACTGC	0.289000													12	31					0	0	1	0	0
FAM41C	284593	broad.mit.edu	37	1	809729	809729	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:809729G>T	ENST00000446136.1	-	0	964					NR_027055.1																						AGGTGGCCTAGAATTTTCCTT	0.473000													54	56					9.22156e-22	1.19627e-21	1	1	0
DNAJA2	10294	broad.mit.edu	37	16	47005478	47005478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:47005478C>A	ENST00000317089.5	-	3	360	c.145G>T	c.(145-147)Gaa>Taa	p.E49*		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	49	J.				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				AAACTTATTTCTTTAAACTAT	0.368000													49	64					5.2432e-18	6.55615e-18	1	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140724216	140724216	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140724216G>T	ENST00000253812.6	+	1	616	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGAAAAAAGAAATTCACCA	0.542000													43	55					2.45108e-15	2.95537e-15	1	1	0
WDR3	10885	broad.mit.edu	37	1	118477138	118477138	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:118477138T>C	ENST00000349139.5	+	3	261	c.214T>C	c.(214-216)Tgc>Cgc	p.C72R	WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TACTTGCTTATGCCCCTCCCC	0.423000													45	47					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14508891	14508891	+	Silent	SNP	C	C	T	rs149466269		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:14508891C>T	ENST00000242786.5	+	9	917	c.837C>T	c.(835-837)ttC>ttT	p.F279F	CD97_ENST00000357355.3_Silent_p.F230F|CD97_ENST00000358600.3_Silent_p.F186F	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	279					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCCGATTCTTCGACAAAGTCC	0.582000													32	49					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125780879	125780879	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:125780879C>T	ENST00000346248.5	-	6	1882	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	CHST15_ENST00000435907.1_Missense_Mutation_p.D414N|CHST15_ENST00000421115.1_Missense_Mutation_p.D414N	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	414					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCATGGAAGTCGTCCGCGGAT	0.423000													28	24					0	0	1	0	0
PHYHD1	254295	broad.mit.edu	37	9	131698892	131698892	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:131698892C>T	ENST00000372592.3	+	8	1336	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	PHYHD1_ENST00000421063.2_Intron|PHYHD1_ENST00000353176.5_Intron|PHYHD1_ENST00000308941.5_Missense_Mutation_p.P135S	NM_001100876.1	NP_001094346.1			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						CCTCCAGATGCCCGTGGTGGT	0.587000													6	9					0	0	1	0	0
OR1D4	653166	broad.mit.edu	37	17	3144006	3144006	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:3144006C>A	ENST00000531680.1	+	0	37					NR_033795.1				olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)																		CTCACAGTTCCTTCTCCTGGG	0.458000													22	48					1.85244e-09	2.06718e-09	1	1	0
GSG1L	146395	broad.mit.edu	37	16	27856304	27856304	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:27856304C>A	ENST00000380898.2	-	4	713	c.164G>T	c.(163-165)aGa>aTa	p.R55I	GSG1L_ENST00000395724.3_Missense_Mutation_p.R159I|GSG1L_ENST00000380897.3_Missense_Mutation_p.R55I|GSG1L_ENST00000447459.2_Missense_Mutation_p.R210I|GSG1L_ENST00000569166.1_Missense_Mutation_p.R55I			Q6UXU4	GSG1L_HUMAN	GSG1-like	210						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						GGAATGGGGTCTCCAGTCCTC	0.612000													15	12					6.94344e-10	7.7891e-10	1	1	0
FGD2	221472	broad.mit.edu	37	6	36981500	36981500	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:36981500G>A	ENST00000274963.8	+	5	814	c.643G>A	c.(643-645)Gac>Aac	p.D215N		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	215	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CACCTGGACCGACAAGTCTCC	0.587000													30	29					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533548	92533548	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:92533548C>T	ENST00000298047.6	+	9	7386	c.7369C>T	c.(7369-7371)Cgg>Tgg	p.R2457W	FAT3_ENST00000525166.1_Missense_Mutation_p.R2307W|FAT3_ENST00000409404.2_Missense_Mutation_p.R2457W			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2457	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCCAACCATCGGAAGCAGCG	0.483000										TCGA Ovarian(4;0.039)			42	49					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33015288	33015288	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:33015288G>T	ENST00000280979.4	+	4	1599	c.1429G>T	c.(1429-1431)Gaa>Taa	p.E477*	AKAP6_ENST00000557354.1_Nonsense_Mutation_p.E477*|AKAP6_ENST00000557272.1_Nonsense_Mutation_p.E477*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	477					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCACATTAAAGAAATTTCTTC	0.453000													127	137					2.12763e-61	3.05181e-61	1	1	0
C11orf80	79703	broad.mit.edu	37	11	66595782	66595782	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:66595782C>A	ENST00000360962.4	+	14	1622	c.1615C>A	c.(1615-1617)Cgt>Agt	p.R539S	C11orf80_ENST00000540737.1_Missense_Mutation_p.R374S|C11orf80_ENST00000527634.1_Missense_Mutation_p.R322S|C11orf80_ENST00000525449.2_Missense_Mutation_p.R347S|C11orf80_ENST00000346672.4_Missense_Mutation_p.R348S|C11orf80_ENST00000532565.2_Missense_Mutation_p.R321S	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	384										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						CAAAGTATTTCGTGAGATCAC	0.438000													10	12					3.86212e-05	4.04094e-05	1	1	0
AK1	203	broad.mit.edu	37	9	130635011	130635011	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:130635011C>A	ENST00000373176.1	-	4	317	c.165G>T	c.(163-165)aaG>aaT	p.K55N	AK1_ENST00000223836.10_Missense_Mutation_p.K71N|RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000373156.1_Missense_Mutation_p.K55N	NM_000476.2	NP_000467.1	P00568	KAD1_HUMAN	adenylate kinase 1	55					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding			endometrium(1)|prostate(1)	2						CCGACAGCTTCTTGCCCCTGG	0.627000													45	46					2.29192e-23	3.01128e-23	1	1	0
PLA2G12A	81579	broad.mit.edu	37	4	110635614	110635614	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:110635614A>G	ENST00000243501.5	-	4	756	c.489T>C	c.(487-489)gtT>gtC	p.V163V	PLA2G12A_ENST00000502283.1_Silent_p.V161V	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	163					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		CTAAATGTATAACACTGTCAA	0.413000													68	77					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42778751	42778751	+	Missense_Mutation	SNP	G	G	A	rs150775133		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:42778751G>A	ENST00000432191.2	+	5	428	c.356G>A	c.(355-357)cGt>cAt	p.R119H	PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000552761.1_Missense_Mutation_p.R126H|PPHLN1_ENST00000358314.7_Missense_Mutation_p.R174H|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395568.2_Missense_Mutation_p.R174H|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.R181H|PPHLN1_ENST00000549190.1_Missense_Mutation_p.R192H|PPHLN1_ENST00000337898.6_Missense_Mutation_p.R119H	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	174					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GAGTCCGTGCGTCCTGGTGCC	0.498000													34	39					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261967	125261967	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:125261967T>G	ENST00000431078.1	+	8	1522	c.1158T>G	c.(1156-1158)atT>atG	p.I386M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	386	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCCCCCAAATTGATGGGCTCT	0.547000													36	47					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49231142	49231142	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:49231142C>T	ENST00000308025.3	-	8	867	c.788G>A	c.(787-789)cGa>cAa	p.R263Q	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	263						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ATGTCTCGTTCGGCGCCGCTT	0.507000													62	52					0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83456082	83456082	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:83456082A>C	ENST00000334574.8	-	2	242	c.61T>G	c.(61-63)Ttt>Gtt	p.F21V	FSD2_ENST00000541889.1_Missense_Mutation_p.F21V			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	21										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						ATGTGGTAAAAGTGGAAATCC	0.473000													33	56					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693289	187693289	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:187693289G>A	ENST00000295131.2	-	9	1363	c.1324C>T	c.(1324-1326)Cct>Tct	p.P442S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	442					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GGTATGCTAGGTAAAATTCCA	0.318000													19	66					0	0	1	0	0
MOAP1	64112	broad.mit.edu	37	14	93649975	93649975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:93649975G>A	ENST00000556883.1	-	2	1097	c.613C>T	c.(613-615)Cga>Tga	p.R205*	MOAP1_ENST00000298894.4_Nonsense_Mutation_p.R205*			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	205	RASSF1-binding.				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tctagcaatcgccttctcttc	0.463000													45	56					0	0	1	0	0
TRAV29DV5	28653	broad.mit.edu	37	14	22631197	22631197	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:22631197G>A	ENST00000390458.3	+	0	64																											AGTCAGATTTGCAGCTTTCTA	0.468000											OREG0022575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	24					0	0	1	0	0
ZSCAN30	100101467	broad.mit.edu	37	18	32833511	32833511	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:32833511T>C	ENST00000420878.3	-	5	1843	c.1388A>G	c.(1387-1389)cAc>cGc	p.H463R	ZNF397_ENST00000592264.1_Intron|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.H463R|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000355632.4_Intron	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	463					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						CTCTCCAGTGTGAATTCTCTG	0.418000													28	35					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68250041	68250041	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:68250041C>T	ENST00000347230.4	-	21	3966	c.3828G>A	c.(3826-3828)ccG>ccA	p.P1276P	ZFYVE26_ENST00000555452.1_Silent_p.P1276P	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1276					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAGTTGTCCTCGGGGAGCTCG	0.582000													66	78					0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44224226	44224226	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:44224226G>A	ENST00000393812.3	-	3	356	c.213C>T	c.(211-213)ggC>ggT	p.G71G	SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Intron|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393810.1_Intron	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	71					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAAAGCAGAGGCCCCTACCTG	0.592000													42	58					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090580	115090580	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:115090580A>G	ENST00000361283.1	+	3	1572	c.1263A>G	c.(1261-1263)aaA>aaG	p.K421K		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	421	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AGCTTCGCAAACCCGGCCCAC	0.552000													76	95					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89070667	89070667	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:89070667C>A	ENST00000535633.1	-	16	1701	c.1391G>T	c.(1390-1392)aGa>aTa	p.R464I	NOX4_ENST00000531342.1_Missense_Mutation_p.R141I|NOX4_ENST00000413594.2_Missense_Mutation_p.R509I|NOX4_ENST00000542487.1_Missense_Mutation_p.R464I|NOX4_ENST00000263317.4_Missense_Mutation_p.R488I|NOX4_ENST00000343727.5_Missense_Mutation_p.R464I|NOX4_ENST00000424319.1_Missense_Mutation_p.R464I|NOX4_ENST00000528341.1_Missense_Mutation_p.R463I|NOX4_ENST00000532825.1_Missense_Mutation_p.R424I|NOX4_ENST00000375979.3_Missense_Mutation_p.R181I|NOX4_ENST00000534731.1_Missense_Mutation_p.R448I|NOX4_ENST00000527626.1_Missense_Mutation_p.R301I|NOX4_ENST00000525196.1_Missense_Mutation_p.R252I|NOX4_ENST00000527956.1_Missense_Mutation_p.R464I	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	488	Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ATAGTCAGGTCTGTTCTCTTG	0.368000													12	16					2.27111e-07	2.46276e-07	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	130015627	130015627	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:130015627C>A	ENST00000422113.2	-	3	1418	c.1092G>T	c.(1090-1092)aaG>aaT	p.K364N		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	364						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAGCTGCTTTCTTCTGACAAA	0.473000													18	38					0.00741294	0.007533	1	1	0
SCYL3	57147	broad.mit.edu	37	1	169831822	169831822	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:169831822G>A	ENST00000367771.6	-	10	1286	c.1072C>T	c.(1072-1074)Ctg>Ttg	p.L358L	SCYL3_ENST00000367772.4_Silent_p.L358L|SCYL3_ENST00000367770.1_Silent_p.L358L|SCYL3_ENST00000470238.1_5'UTR	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)						cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGTGAGACAGCAGCACCATC	0.542000													119	169					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949143	89949143	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:89949143G>T	ENST00000405460.2	+	20	3848	c.3752G>T	c.(3751-3753)aGa>aTa	p.R1251I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1251					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		TGTTTAGAGAGAGAAGTGGCA	0.453000													19	35					1.28384e-07	1.39672e-07	1	1	0
GTDC1	79712	broad.mit.edu	37	2	144714776	144714776	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:144714776G>T	ENST00000392869.2	-	8	1268	c.1116C>A	c.(1114-1116)ttC>ttA	p.F372L	GTDC1_ENST00000392867.3_Intron|GTDC1_ENST00000542155.1_Missense_Mutation_p.F372L|GTDC1_ENST00000344850.4_Missense_Mutation_p.F372L|GTDC1_ENST00000409298.1_Missense_Mutation_p.F254L|GTDC1_ENST00000463875.2_Missense_Mutation_p.F243L|GTDC1_ENST00000409214.1_Missense_Mutation_p.F372L|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000241391.5_Intron	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1						biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CCACTCCAAAGAATTCATGCT	0.373000													23	27					9.57634e-11	1.08962e-10	1	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118350645	118350645	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:118350645C>T	ENST00000528052.1	+	2	75	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	PNLIPRP1_ENST00000534537.1_Silent_p.L2L|PNLIPRP1_ENST00000358834.4_Silent_p.L2L|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000442761.1_Silent_p.L2L			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	2					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ATTGTAGATGCTGATCTTCTG	0.493000													15	17					0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13933784	13933784	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:13933784T>G	ENST00000294489.6	+	2	753	c.412T>G	c.(412-414)Tct>Gct	p.S138A	PDPN_ENST00000376061.4_Missense_Mutation_p.S20A|PDPN_ENST00000475043.1_Missense_Mutation_p.S20A|PDPN_ENST00000376057.4_Missense_Mutation_p.S138A|PDPN_ENST00000509009.1_Missense_Mutation_p.S57A|PDPN_ENST00000513143.1_Missense_Mutation_p.S20A|PDPN_ENST00000487038.1_Missense_Mutation_p.S20A			Q86YL7	PDPN_HUMAN	podoplanin	62					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CCGCTATAAGTCTGGCTTGAC	0.468000													24	37					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134680741	134680741	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:134680741G>A	ENST00000370752.4	+	5	878	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	182	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTTCTACCGAACCAGAGCA	0.463000													42	6					0	0	1	0	0
ZNF286B	729288	broad.mit.edu	37	17	18565806	18565806	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:18565806C>T	ENST00000545289.1	-	5	1263	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						ATGTGTACTTCGATTAAAACC	0.383000													23	26					0	0	1	0	0
SDS	10993	broad.mit.edu	37	12	113837391	113837391	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:113837391C>A	ENST00000257549.4	-	2	245	c.123G>T	c.(121-123)aaG>aaT	p.K41N		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	41					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGCCCCGGATCTTGAAGGAGC	0.622000													5	9					0.014758	0.0149174	1	1	0
ZNF774	342132	broad.mit.edu	37	15	90904195	90904195	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:90904195G>A	ENST00000354377.3	+	4	1318	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTTTAAGTGCGAAAACTGTGG	0.507000													40	53					0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132891500	132891500	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:132891500T>C	ENST00000275198.1	+	1	40	c.40T>C	c.(40-42)Tgc>Cgc	p.C14R		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	14						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TGTGCAGCTGTGCTACGCGAA	0.483000													19	35					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31362357	31362357	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:31362357C>A	ENST00000542188.1	-	3	520	c.207G>T	c.(205-207)gaG>gaT	p.E69D	TRPM1_ENST00000256552.6_Missense_Mutation_p.E52D|TRPM1_ENST00000397795.2_Missense_Mutation_p.E30D|TRPM1_ENST00000559179.1_Missense_Mutation_p.E30D	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	30					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTTTGCTTTCCTCTTCATTTT	0.502000													7	445					5.68852e-11	6.49195e-11	1	1	0
CCDC130	81576	broad.mit.edu	37	19	13870053	13870053	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:13870053C>T	ENST00000586600.1	+	9	1043	c.540C>T	c.(538-540)ttC>ttT	p.F180F	CCDC130_ENST00000221554.8_Silent_p.F180F|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	180					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AGGACGACTTCGCCCTCAACA	0.677000													13	17					0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64139062	64139062	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:64139062C>A	ENST00000545618.1	-	5	969	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	ZC4H2_ENST00000374839.3_Nonsense_Mutation_p.E141*|ZC4H2_ENST00000337990.2_Nonsense_Mutation_p.E118*|ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000488608.1_5'UTR			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	141							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTCTGCCATTCTGCTTTCTGC	0.532000													35	1					1.06647e-15	1.29438e-15	1	1	0
EIF4G1	1981	broad.mit.edu	37	3	184037587	184037587	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:184037587A>G	ENST00000342981.4	+	6	949	c.535A>G	c.(535-537)Acg>Gcg	p.T179A	EIF4G1_ENST00000414031.1_Missense_Mutation_p.T139A|EIF4G1_ENST00000352767.3_Missense_Mutation_p.T186A|EIF4G1_ENST00000346169.2_Missense_Mutation_p.T179A|EIF4G1_ENST00000319274.6_Missense_Mutation_p.T179A|EIF4G1_ENST00000427845.1_Missense_Mutation_p.T92A|EIF4G1_ENST00000392537.2_Missense_Mutation_p.T92A|EIF4G1_ENST00000350481.5_Missense_Mutation_p.T15A|EIF4G1_ENST00000441154.1_Missense_Mutation_p.T15A|EIF4G1_ENST00000424196.1_Missense_Mutation_p.T186A|EIF4G1_ENST00000382330.3_Missense_Mutation_p.T186A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.T139A	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	179	PABPC1-binding.				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)			GGAGCGTAAGACGGTGAGTAG	0.597000													5	7					0	0	1	0	0
SGK3	23678	broad.mit.edu	37	8	67771771	67771771	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:67771771C>T	ENST00000396596.1	+	17	1660	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	SGK3_ENST00000345714.4_Silent_p.F482F|SGK3_ENST00000522398.1_Silent_p.F482F|SGK3_ENST00000521198.2_Silent_p.F482F|SGK3_ENST00000520976.1_Silent_p.F450F|C8orf44-SGK3_ENST00000519289.1_Silent_p.F482F	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	482	AGC-kinase C-terminal.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATGATGCATTCGTTGGTTTCT	0.383000													42	46					0	0	1	0	0
P2RY6	5031	broad.mit.edu	37	11	73007933	73007933	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:73007933C>T	ENST00000393590.2	+	2	669	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	P2RY6_ENST00000538328.1_Missense_Mutation_p.R124C|P2RY6_ENST00000540124.1_Missense_Mutation_p.R124C|P2RY6_ENST00000349767.2_Missense_Mutation_p.R124C|P2RY6_ENST00000393592.2_Missense_Mutation_p.R124C|P2RY6_ENST00000540342.1_Missense_Mutation_p.R124C|P2RY6_ENST00000393591.1_Missense_Mutation_p.R124C|P2RY6_ENST00000542092.1_Missense_Mutation_p.R124C	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	124					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CAGCTTCCAGCGCTACCTGGG	0.657000													52	71					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159846422	159846422	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:159846422C>T	ENST00000426543.2	-	10	1476	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	CCDC19_ENST00000368099.4_Missense_Mutation_p.E426K|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	426						mitochondrion|soluble fraction		p.E426K(2)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCCACCTGTTCGAGCCGACTT	0.567000													20	20					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182399085	182399085	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:182399085G>T	ENST00000397033.2	+	26	3301	c.2871G>T	c.(2869-2871)gaG>gaT	p.E957D		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	957					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)	ACAAGGATGAGAATGTTGCGC	0.353000													17	21					3.52763e-06	3.75281e-06	1	1	0
MLLT4-AS1	653483	broad.mit.edu	37	6	168226344	168226344	+	RNA	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:168226344A>C	ENST00000359760.5	-	0	1045					NR_027906.1																						GGTTCAGAAAACATGACCCTT	0.547000													33	36					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576912	158576912	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:158576912C>T	ENST00000361284.1	+	1	684	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	228					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)					TACTGAGGATCCCCTCTGCTG	0.507000													61	94					0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120831703	120831703	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:120831703G>A	ENST00000263713.5	+	5	570	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	EPB41L5_ENST00000452780.1_Missense_Mutation_p.R119Q|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R119Q|EPB41L5_ENST00000443902.2_Missense_Mutation_p.R119Q|EPB41L5_ENST00000443124.1_Missense_Mutation_p.R119Q	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	119	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CTGCATCTTCGAGTTAAGTTT	0.333000													5	11					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52620542	52620542	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:52620542G>A	ENST00000356770.4	-	19	3192	c.3190C>T	c.(3190-3192)Cgc>Tgc	p.R1064C	PBRM1_ENST00000410007.1_Missense_Mutation_p.R1071C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1096C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R1096C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1111C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1071C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1111C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1096C			Q86U86	PB1_HUMAN	polybromo 1	1096	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAGGCCACGCGAACCACAGGC	0.438000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								50	60					0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61113336	61113336	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:61113336C>A	ENST00000394900.3	+	17	1722	c.1493C>A	c.(1492-1494)tCt>tAt	p.S498Y		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	498	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	p.S498Y(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CAGCTGGATTCTCTGTGGGCA	0.592000													48	35					2.65591e-33	3.678e-33	1	1	0
OR4K1	79544	broad.mit.edu	37	14	20404748	20404748	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:20404748C>T	ENST00000285600.4	+	1	982	c.923C>T	c.(922-924)tCc>tTc	p.S308F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CATGTGAACTCCTGGAAAAAC	0.433000													23	67					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50111913	50111913	+	RNA	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:50111913T>C	ENST00000376025.2	-	0	3900							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						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)					ATTCTCAATGTTGTGAGTTCT	0.418000													10	2					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122760801	122760801	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:122760801T>C	ENST00000264499.4	-	13	1539	c.1356A>G	c.(1354-1356)acA>acG	p.T452T	BBS7_ENST00000506636.1_Silent_p.T452T	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	452					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GTTCCAGCCTTGTAGTATCTG	0.358000									Bardet-Biedl syndrome				21	17					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40913124	40913124	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:40913124G>T	ENST00000346991.5	+	11	1130	c.740G>T	c.(739-741)aGa>aTa	p.R247I	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.R221I			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	247	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTCATAAAAAGATTGAAAACA	0.333000													16	22					1.5739e-10	1.78284e-10	1	1	0
MUC16	94025	broad.mit.edu	37	19	9083745	9083745	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9083745C>T	ENST00000397910.4	-	1	8273	c.8070G>A	c.(8068-8070)gaG>gaA	p.E2690E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2690	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						CATTTGAGGTCTCTGACATGG	0.468000													35	44					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42729672	42729672	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:42729672G>A	ENST00000287777.4	+	2	1291	c.1191G>A	c.(1189-1191)ccG>ccA	p.P397P		NM_152393.2	NP_689606.2			kelch-like family member 40																		GGATGCCACCGCTGCCCTCGC	0.657000													7	65					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35860997	35860997	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:35860997C>T	ENST00000303115.3	+	2	255	c.126C>T	c.(124-126)tgC>tgT	p.C42C	IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000511982.1_Silent_p.C42C|IL7R_ENST00000506850.1_Silent_p.C42C|IL7R_ENST00000343305.4_Silent_p.C42C	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	42					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CATTCTCATGCTATAGCCAGT	0.428000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						58	85					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154681001	154681001	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:154681001G>A	ENST00000404039.1	+	24	2719	c.2132G>A	c.(2131-2133)cGa>cAa	p.R711Q	DPP6_ENST00000377770.3_Missense_Mutation_p.R775Q|DPP6_ENST00000427557.1_Missense_Mutation_p.R668Q|DPP6_ENST00000332007.3_Missense_Mutation_p.R713Q	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	775					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GTAGCCCATCGAGTCTCCGCG	0.542000													10	18					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89156944	89156944	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:89156944C>A	ENST00000336596.2	+	1	271	c.46C>A	c.(46-48)Ctc>Atc	p.L16I	EPHA3_ENST00000452448.2_Missense_Mutation_p.L16I|EPHA3_ENST00000494014.1_Missense_Mutation_p.L16I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	16						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTGCTCTGTTCTCGACAGCTT	0.577000										TSP Lung(6;0.00050)			51	55					7.89702e-26	1.05445e-25	1	1	0
NNMT	4837	broad.mit.edu	37	11	114168712	114168712	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:114168712G>A	ENST00000535401.1	+	4	458	c.194G>A	c.(193-195)gGc>gAc	p.G65D	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.G65D			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	65					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	ATCGGCTCTGGCCCCACTATC	0.532000													37	51					0	0	1	0	0
AC096579.13	0	broad.mit.edu	37	2	89111094	89111094	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:89111094G>T	ENST00000452230.1	-	0	310																											CTTTCGGGGAGAAATAATCAG	0.463000													6	10					0.00116845	0.00119626	1	1	0
GOLGA5	9950	broad.mit.edu	37	14	93264299	93264299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:93264299G>T	ENST00000163416.2	+	2	773	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	GOLGA5_ENST00000355976.2_Nonsense_Mutation_p.E173*	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	173					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		AACCATTGAAGAAAATTCTTT	0.398000			T	RET	papillary thyroid								47	77					5.73435e-26	7.66064e-26	1	1	0
CASC5	57082	broad.mit.edu	37	15	40915757	40915757	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:40915757G>A	ENST00000346991.5	+	11	3763	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	CASC5_ENST00000399668.2_Missense_Mutation_p.E1099K			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1125	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AATAGATAACGAAAGTGCCCT	0.378000													35	52					0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446715	169446715	+	Missense_Mutation	SNP	C	C	T	rs138777536		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:169446715C>T	ENST00000236137.5	-	2	721	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	SLC19A2_ENST00000367804.4_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	162					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					AGTGGCACTTCGACAGTAACT	0.483000													43	45					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102296256	102296256	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:102296256C>T	ENST00000370103.4	-	3	557	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	OLFM3_ENST00000338858.5_Missense_Mutation_p.R135Q|OLFM3_ENST00000359814.3_Missense_Mutation_p.R135Q|OLFM3_ENST00000536598.1_Missense_Mutation_p.R40Q|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	135						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AAGTGTCTTTCGATCATCTTC	0.408000													88	63					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139265663	139265663	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:139265663A>G	ENST00000450536.2	-	5	1299	c.725T>C	c.(724-726)cTt>cCt	p.L242P	REPS1_ENST00000415951.2_Missense_Mutation_p.L242P|REPS1_ENST00000258062.5_Missense_Mutation_p.L242P|REPS1_ENST00000409812.2_Missense_Mutation_p.L242P|REPS1_ENST00000367663.4_Missense_Mutation_p.L242P			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	242						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CATGGTTAAAAGAGTACTGGT	0.428000													74	89					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47886612	47886612	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:47886612T>G	ENST00000289672.2	-	32	5068	c.5018A>C	c.(5017-5019)aAc>aCc	p.N1673T		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1673					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						TAAATATCTGTTTGGAGGTTT	0.388000													27	26					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90770410	90770410	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:90770410C>T	ENST00000354366.3	-	5	1106	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	NRDE2_ENST00000357904.3_Missense_Mutation_p.E61K	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TGCTTTGATTCCTGCTCTGGA	0.547000													64	76					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233244361	233244361	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:233244361G>A	ENST00000392027.2	+	4	717	c.448G>A	c.(448-450)Gag>Aag	p.E150K	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	150						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		ACGCGGCAACGAGGTCATCTC	0.607000													13	6					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110370962	110370962	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:110370962G>A	ENST00000360185.4	-	19	2115	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C	TCHP_ENST00000550780.1_Intron|GIT2_ENST00000354574.4_Missense_Mutation_p.R623C|GIT2_ENST00000551209.1_Missense_Mutation_p.R650C|GIT2_ENST00000338373.5_Missense_Mutation_p.R603C|GIT2_ENST00000343646.5_Missense_Mutation_p.R591C|GIT2_ENST00000361006.5_Missense_Mutation_p.R671C|GIT2_ENST00000553118.1_Missense_Mutation_p.R573C|GIT2_ENST00000457474.2_Missense_Mutation_p.R623C|GIT2_ENST00000356259.4_Missense_Mutation_p.R588C|GIT2_ENST00000355312.3_Missense_Mutation_p.R701C	NM_014776.3	NP_055591.2	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	701					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						gtcagtaaacgaagggaagtc	0.542000													7	6					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117718088	117718088	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:117718088T>C	ENST00000368508.3	-	7	967	c.769A>G	c.(769-771)Act>Gct	p.T257A	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.T266A	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	257	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTGTAGATAGTATTTGGTAAA	0.338000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								50	49					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91432589	91432589	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:91432589T>C	ENST00000328850.3	+	6	864	c.722T>C	c.(721-723)gTg>gCg	p.V241A	FES_ENST00000394302.1_Missense_Mutation_p.V183A|FES_ENST00000444422.2_Missense_Mutation_p.V241A|FES_ENST00000450438.2_Missense_Mutation_p.V183A|FES_ENST00000414248.2_Missense_Mutation_p.V183A|FES_ENST00000394300.3_Missense_Mutation_p.V183A	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	241	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CAGGATGAGGTGGTGGCCATT	0.627000													27	23					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23803469	23803469	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:23803469C>T	ENST00000264867.2	-	12	2296	c.2177G>A	c.(2176-2178)tGt>tAt	p.C726Y	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	726	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AAAAGCATCACAGGTATAACG	0.403000													24	26					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901291	40901291	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:40901291C>T	ENST00000324001.7	-	7	3238	c.2968G>A	c.(2968-2970)Gat>Aat	p.D990N	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	990					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGGACAGATCGAGGGCAGGC	0.637000													50	58					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76645303	76645303	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:76645303A>G	ENST00000264917.5	+	8	981	c.936A>G	c.(934-936)aaA>aaG	p.K312K	PDE8B_ENST00000333194.4_Silent_p.K312K|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000342343.4_Silent_p.K292K|PDE8B_ENST00000340978.3_Intron	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	312	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TCCTGGGAAAAGAACTCGCTG	0.498000													44	47					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36109988	36109988	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:36109988C>A	ENST00000377966.3	+	15	2366	c.1800C>A	c.(1798-1800)gtC>gtA	p.V600V		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	600						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ACTGCAATGTCTGTTCTTGTT	0.423000													58	81					1.73933e-33	2.40994e-33	1	1	0
PHF7	51533	broad.mit.edu	37	3	52455719	52455719	+	Missense_Mutation	SNP	G	G	A	rs146357738		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:52455719G>A	ENST00000327906.3	+	8	1289	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	PHF7_ENST00000347025.2_Missense_Mutation_p.R210Q	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	210						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TGTAACAATCGAAAAGAGTTT	0.438000													24	29					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260327	44260327	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:44260327G>A	ENST00000315087.7	-	7	1469	c.809C>T	c.(808-810)tCg>tTg	p.S270L	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S306L|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S239L	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	270					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						AGCTTGCGGCGATTCGAAGTC	0.622000													22	23					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183694775	183694775	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:183694775C>T	ENST00000511685.1	+	23	5166	c.5043C>T	c.(5041-5043)atC>atT	p.I1681I	RP11-18D7.2_ENST00000513255.1_RNA|TENM3_ENST00000406950.2_Silent_p.I1681I					teneurin transmembrane protein 3																		TGTCCTCGATCGATTCTTTCT	0.463000													49	78					0	0	1	0	0
GIN1	54826	broad.mit.edu	37	5	102433155	102433155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:102433155G>A	ENST00000399004.2	-	6	965	c.871C>T	c.(871-873)Cga>Tga	p.R291*	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	291	Integrase catalytic.				DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TAAGGATTTCGACTAAACATT	0.299000													37	37					0	0	1	0	0
ELAC1	55520	broad.mit.edu	37	18	48510708	48510708	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:48510708G>T	ENST00000269466.3	+	3	507	c.400G>T	c.(400-402)Gaa>Taa	p.E134*	RP11-729L2.2_ENST00000590722.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron|ELAC1_ENST00000591429.1_Nonsense_Mutation_p.E134*|SMAD4_ENST00000452201.2_Intron|ELAC1_ENST00000588577.1_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	134					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		TCCTGCAGAAGAACTAAAAGA	0.443000													23	35					3.8784e-16	4.74502e-16	1	1	0
TNFSF18	8995	broad.mit.edu	37	1	173010566	173010566	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:173010566G>T	ENST00000404377.3	-	3	541	c.541C>A	c.(541-543)Cta>Ata	p.L181I	TNFSF18_ENST00000239468.2_Missense_Mutation_p.L159I|RP1-15D23.2_ENST00000432694.2_lincRNA	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	181					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TTATTTTTTAGAACCTGATGC	0.368000													45	52					3.39706e-21	4.38656e-21	1	1	0
RAB28	9364	broad.mit.edu	37	4	13383200	13383200	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:13383200C>T	ENST00000288723.4	-	5	624	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	RAB28_ENST00000338176.4_Missense_Mutation_p.R137Q|RAB28_ENST00000330852.5_Missense_Mutation_p.R137Q	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	137					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TTTTATTGTTCGCATATGCTC	0.323000													22	28					0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135521543	135521543	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:135521543T>G	ENST00000341911.5	+	13	2139	c.1940T>G	c.(1939-1941)aTc>aGc	p.I647S	MYB_ENST00000442647.2_Missense_Mutation_p.I523S|MYB_ENST00000367814.4_Missense_Mutation_p.I526S|MYB_ENST00000533624.1_Missense_Mutation_p.I491S|MYB_ENST00000527615.1_Missense_Mutation_p.I526S|MYB_ENST00000534121.1_Missense_Mutation_p.I631S|MYB_ENST00000316528.8_Missense_Mutation_p.I526S|MYB_ENST00000525369.1_Missense_Mutation_p.I441S|MYB_ENST00000534044.1_Missense_Mutation_p.I526S|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000528774.1_Missense_Mutation_p.I644S	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	538					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CTGAAGAAAATCAAACAAGAG	0.438000			T	NFIB	adenoid cystic carcinoma								45	48					0	0	1	0	0
C1orf21	81563	broad.mit.edu	37	1	184567589	184567589	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:184567589T>G	ENST00000235307.6	+	5	756	c.321T>G	c.(319-321)atT>atG	p.I107M	C1orf21_ENST00000367514.3_3'UTR	NM_030806.3	NP_110433.1	Q9H246	CA021_HUMAN	chromosome 1 open reading frame 21	107										breast(1)|lung(1)	2		Breast(1374;0.00262)		Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)		ATGAAAAAATTGAAAAGGTAA	0.333000													8	13					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149479318	149479318	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:149479318G>A	ENST00000378016.2	+	0	1831							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGGGCCTGCGACGCTGGGAG	0.652000													17	11					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22677432	22677432	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:22677432C>T	ENST00000333957.4	-	6	830	c.575G>A	c.(574-576)aGa>aAa	p.R192K	C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000542676.1_Missense_Mutation_p.R192K|C2CD5_ENST00000446597.1_Missense_Mutation_p.R192K|C2CD5_ENST00000536386.1_Missense_Mutation_p.R192K|C2CD5_ENST00000396028.2_Missense_Mutation_p.R192K|C2CD5_ENST00000545552.1_Missense_Mutation_p.R192K	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		GAGTCTCTGTCTGGCCTCATT	0.353000													25	25					0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355561	34355561	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:34355561C>T	ENST00000383263.5	+	3	1313	c.643C>T	c.(643-645)Cga>Tga	p.R215*	CHRM5_ENST00000557872.1_Nonsense_Mutation_p.R215*	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	215					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CCTCTACTGTCGAATCTACCG	0.522000													100	126					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114248606	114248606	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:114248606A>T	ENST00000369604.1	-	13	2060	c.1577T>A	c.(1576-1578)aTt>aAt	p.I526N	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Missense_Mutation_p.I473N|PHTF1_ENST00000393357.2_Missense_Mutation_p.I526N|PHTF1_ENST00000357783.2_Missense_Mutation_p.I526N|PHTF1_ENST00000369596.2_Missense_Mutation_p.I473N|PHTF1_ENST00000369598.1_Missense_Mutation_p.I481N			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	526						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAACAATAATAGGTGTAAC	0.378000													25	33					0	0	1	0	0
SNRPB2	6629	broad.mit.edu	37	20	16717931	16717931	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:16717931C>T	ENST00000246071.6	+	4	479	c.263C>T	c.(262-264)tCg>tTg	p.S88L	SNRPB2_ENST00000377943.5_Missense_Mutation_p.S88L	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	88						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						AAAACAGATTCGGATATAATA	0.313000													18	14					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18834884	18834884	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:18834884A>C	ENST00000377304.4	-	11	1806	c.1388T>G	c.(1387-1389)tTt>tGt	p.F463C		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	463							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						GCATTTTACAAATTTTGCAAT	0.378000													58	69					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32583871	32583871	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:32583871A>G	ENST00000357033.4	-	16	2146	c.1940T>C	c.(1939-1941)tTt>tCt	p.F647S	DMD_ENST00000378677.2_Missense_Mutation_p.F643S|DMD_ENST00000288447.4_Missense_Mutation_p.F639S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	647					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACACCGGGCAAAGTTATCCAG	0.393000													42	7					0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112050169	112050169	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:112050169G>A	ENST00000357685.5	+	2	392	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	SDHD_ENST00000532699.1_Intron|BCO2_ENST00000361053.4_Missense_Mutation_p.R86Q|AP002884.3_ENST00000532612.1_Missense_Mutation_p.R57Q|BCO2_ENST00000532593.1_Intron|BCO2_ENST00000526088.1_Missense_Mutation_p.R52Q|BCO2_ENST00000531169.1_Missense_Mutation_p.R52Q|SDHD_ENST00000525468.1_Intron|BCO2_ENST00000393032.2_Missense_Mutation_p.R52Q|BCO2_ENST00000438022.1_Missense_Mutation_p.R52Q			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	86					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TCTCTACTTCGAATTGGACCT	0.498000													32	50					0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	160000352	160000352	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:160000352C>A	ENST00000326448.7	-	14	1862	c.1430G>T	c.(1429-1431)aGa>aTa	p.R477I	IFT80_ENST00000496589.1_Missense_Mutation_p.R340I|IFT80_ENST00000483465.1_Missense_Mutation_p.R340I|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R648I	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	477						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGCAATTTTTCTATCATTGGT	0.279000													16	9					2.23348e-06	2.38223e-06	1	1	0
CORIN	10699	broad.mit.edu	37	4	47680039	47680039	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:47680039T>G	ENST00000273857.4	-	9	1164	c.1165A>C	c.(1165-1167)Aat>Cat	p.N389H	CORIN_ENST00000504584.1_Missense_Mutation_p.N352H|CORIN_ENST00000505909.1_Missense_Mutation_p.N352H|CORIN_ENST00000502252.1_Missense_Mutation_p.N322H|CORIN_ENST00000508498.1_Missense_Mutation_p.N250H	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	389	LDL-receptor class A 4.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CATTGTCCATTTCTGCATTCC	0.453000													26	37					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30954218	30954218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:30954218C>A	ENST00000295055.8	-	21	2151	c.1975G>T	c.(1975-1977)Gaa>Taa	p.E659*	CAPN13_ENST00000534090.2_Nonsense_Mutation_p.E659*	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	659	EF-hand 2.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ACCTCCATTTCTGTCAGGTAG	0.532000													11	13					0.00010058	0.000104397	1	1	0
RPS6KA3	6197	broad.mit.edu	37	X	20252921	20252921	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:20252921T>G	ENST00000379565.3	-	2	288	c.81A>C	c.(79-81)caA>caC	p.Q27H	RPS6KA3_ENST00000540702.1_5'UTR|RPS6KA3_ENST00000544447.1_5'UTR	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	27					axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|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|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						CATCCATAATTTGCTGTCCAT	0.333000													27	1					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104173861	104173861	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:104173861G>A	ENST00000020673.5	-	5	1744	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	PSD_ENST00000406432.1_Silent_p.F406F	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	406					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGATGGCTTCGAACACACAAC	0.632000													48	64					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90438796	90438796	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:90438796T>G	ENST00000369393.3	-	36	5318	c.5203A>C	c.(5203-5205)Aat>Cat	p.N1735H	MDN1_ENST00000428876.1_Missense_Mutation_p.N1735H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1735					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCTGTGCATTCATAGCAGTG	0.473000													32	29					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179435390	179435390	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179435390G>A	ENST00000589042.1	-	326	75693	c.75469C>T	c.(75469-75471)Cga>Tga	p.R25157*	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R16092*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R16284*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R16217*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R22589*|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R23516*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23516	Fibronectin type-III 83.						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)			ATTTCTAATCGAGCTGTGTTT	0.413000													50	34					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187500864	187500864	+	Silent	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:187500864T>G	ENST00000261023.3	+	7	961	c.687T>G	c.(685-687)gtT>gtG	p.V229V	ITGAV_ENST00000374907.3_Silent_p.V193V|ITGAV_ENST00000433736.2_Silent_p.V183V	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	229					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ACCCCAATGTTTACAGCATCA	0.333000													35	127					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21592378	21592378	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:21592378C>T	ENST00000298925.5	+	19	2286	c.2133C>T	c.(2131-2133)tgC>tgT	p.C711C	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Silent_p.C626C|NELL1_ENST00000357134.5_Silent_p.C683C|NELL1_ENST00000532434.1_Silent_p.C636C			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	683	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TATTCTGTTGCCCAGAATGTG	0.453000													39	64					0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794787	124794787	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:124794787G>A	ENST00000298251.4	-	2	669	c.264C>T	c.(262-264)atC>atT	p.I88I		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	88	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GCAGGGTGCCGATGACCTCTG	0.592000													40	70					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66914237	66914237	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:66914237G>A	ENST00000269080.2	-	14	2015	c.1878C>T	c.(1876-1878)cgC>cgT	p.R626R	ABCA8_ENST00000430352.2_Silent_p.R666R|ABCA8_ENST00000586539.1_Silent_p.R666R	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	626	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGAGGATCACGCGGTCTGTTT	0.453000													25	34					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72993469	72993469	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:72993469C>T	ENST00000268489.5	-	2	1248	c.576G>A	c.(574-576)ccG>ccA	p.P192P	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	192					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGATGATCTGCGGGTACACGG	0.622000													61	56					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160719772	160719772	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:160719772C>A	ENST00000368043.3	+	3	575	c.538C>A	c.(538-540)Ctc>Atc	p.L180I	SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000458104.2_Missense_Mutation_p.L73I|SLAMF7_ENST00000368042.3_Missense_Mutation_p.L73I|SLAMF7_ENST00000458602.2_Missense_Mutation_p.L73I|SLAMF7_ENST00000359331.4_Missense_Mutation_p.L180I	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	180	Ig-like C2-type.				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGGTCCATCCTCCCCATCTC	0.527000													62	73					7.50695e-29	1.02312e-28	1	1	0
TAF15	8148	broad.mit.edu	37	17	34149813	34149813	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:34149813G>T	ENST00000588240.1	+	6	575	c.460G>T	c.(460-462)Gaa>Taa	p.E154*	TAF15_ENST00000311979.3_Nonsense_Mutation_p.E151*|TAF15_ENST00000592237.1_Nonsense_Mutation_p.E63*|AC015849.19_ENST00000588415.1_RNA|AC015849.13_ENST00000589356.1_RNA	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	154	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTCACAAAGGGAAAACTACAG	0.368000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								5	85					0.184627	0.184974	1	1	0
ALPK2	115701	broad.mit.edu	37	18	56247202	56247202	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:56247202T>G	ENST00000361673.3	-	4	1019	c.806A>C	c.(805-807)tAc>tCc	p.Y269S		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	269							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						GAAGCTAATGTATTTCTGTAC	0.488000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	68					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55863736	55863736	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:55863736C>A	ENST00000388975.3	-	10	1285	c.1169G>T	c.(1168-1170)aGg>aTg	p.R390M		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	390					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCGAGCTTCCTTATCTCCTC	0.443000													12	18					4.93089e-13	5.76424e-13	1	1	0
DGKD	8527	broad.mit.edu	37	2	234363465	234363465	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:234363465C>T	ENST00000264057.2	+	19	2333	c.2321C>T	c.(2320-2322)gCg>gTg	p.A774V	DGKD_ENST00000409813.3_Missense_Mutation_p.A730V	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	774					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GGCCTGGATGCGAAGATATCC	0.468000													43	5					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58724271	58724271	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:58724271G>A	ENST00000326804.4	+	9	2180	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	ZNF274_ENST00000424679.2_Missense_Mutation_p.R469H|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.R542H	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	575					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)		TTCAATGATCGCTCAGCCATC	0.522000													40	56					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092250	30092250	+	RNA	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:30092250T>G	ENST00000567636.1	+	0	625					NR_003558.1																						TGCCACATGCTTCTTCTAACA	0.473000													8	13					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53256587	53256587	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:53256587A>C	ENST00000566029.1	+	4	2025	c.1816A>C	c.(1816-1818)Aaa>Caa	p.K606Q	CHD9_ENST00000398510.3_Missense_Mutation_p.K606Q|CHD9_ENST00000447540.1_Missense_Mutation_p.K606Q|CHD9_ENST00000564845.1_Missense_Mutation_p.K606Q			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	606	Lys-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TAAGAAACAAAAAAGAAAGAA	0.284000													5	8					0	0	1	0	0
SHCBP1	79801	broad.mit.edu	37	16	46615835	46615835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:46615835C>T	ENST00000303383.3	-	13	2091	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	609										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CAATTTCCCTCGACTTGCTCA	0.448000													29	55					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10541382	10541382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:10541382C>A	ENST00000334534.5	+	4	332	c.152C>A	c.(151-153)tCa>tAa	p.S51*		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		ACCATTGATTCAAGAGTTCAG	0.328000													13	19					7.93312e-07	8.52627e-07	1	1	0
RRP12	23223	broad.mit.edu	37	10	99129933	99129933	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:99129933C>T	ENST00000370992.4	-	24	2899	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K	RRP12_ENST00000315563.6_Missense_Mutation_p.E830K|RRP12_ENST00000414986.1_Missense_Mutation_p.E869K|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.E648K	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	930						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CCTTTAAACTCGAAAAGGAGG	0.542000													3	9					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87041264	87041264	+	Nonsense_Mutation	SNP	G	G	A	rs121918440		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:87041264G>A	ENST00000265723.4	-	23	2980	c.2869C>T	c.(2869-2871)Cga>Tga	p.R957*	ABCB4_ENST00000359206.3_Nonsense_Mutation_p.R957*|ABCB4_ENST00000545634.1_Nonsense_Mutation_p.R957*|ABCB4_ENST00000453593.1_Intron|ABCB4_ENST00000358400.3_Intron	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	957	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GCACCAAATCGAAAACAACCG	0.328000													23	41					0	0	1	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202195204	202195204	+	Missense_Mutation	SNP	G	G	A	rs142904738	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:202195204G>A	ENST00000405148.2	-	9	1107	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	ALS2CR12_ENST00000286190.5_Missense_Mutation_p.R222C|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R222C|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R222C	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	222					regulation of GTPase activity		protein binding	p.R222C(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TGATACGTACGAAACATATTC	0.378000													7	0					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122159134	122159134	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:122159134A>C	ENST00000263710.4	-	28	3240	c.2851T>G	c.(2851-2853)Tta>Gta	p.L951V	CLASP1_ENST00000455322.2_Missense_Mutation_p.L946V|CLASP1_ENST00000541377.1_Missense_Mutation_p.L929V|CLASP1_ENST00000545861.1_Missense_Mutation_p.L697V|CLASP1_ENST00000397587.3_Missense_Mutation_p.L930V|CLASP1_ENST00000541859.1_Missense_Mutation_p.L707V|CLASP1_ENST00000409078.3_Missense_Mutation_p.L923V	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	951					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GATCCAAGTAAATCTGCTCCC	0.348000													15	240					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16340159	16340159	+	Missense_Mutation	SNP	C	C	T	rs148119560		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:16340159C>T	ENST00000352083.6	-	3	355	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	SOX6_ENST00000316399.6_Missense_Mutation_p.R93Q|SOX6_ENST00000396356.3_Missense_Mutation_p.R93Q|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000527619.1_Missense_Mutation_p.R96Q|SOX6_ENST00000528429.1_Missense_Mutation_p.R93Q|SOX6_ENST00000528252.1_Missense_Mutation_p.R93Q			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	93					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AGAGGTATTTCGGAAGGAATA	0.408000													48	75					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996881	20996881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:20996881C>A	ENST00000261383.3	-	48	7182	c.7183G>T	c.(7183-7185)Gaa>Taa	p.E2395*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2395	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)		TTGTTGAATTCTTCCAGATAG	0.468000													62	58					4.73848e-44	6.70478e-44	1	1	0
SLC4A7	9497	broad.mit.edu	37	3	27498151	27498151	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:27498151C>A	ENST00000295736.5	-	1	94	c.24G>T	c.(22-24)aaG>aaT	p.K8N	SLC4A7_ENST00000388777.4_Intron|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000454389.1_Intron|SLC4A7_ENST00000428386.1_Missense_Mutation_p.K8N|SLC4A7_ENST00000440156.1_Intron|SLC4A7_ENST00000445684.1_Intron|SLC4A7_ENST00000446700.1_Intron|SLC4A7_ENST00000425128.2_Intron|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000435667.2_Intron	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	8						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CAGGTAACTTCTTCTCCAGAC	0.343000													33	32					1.06647e-15	1.29438e-15	1	1	0
TMEM209	84928	broad.mit.edu	37	7	129821492	129821492	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:129821492C>T	ENST00000397622.2	-	9	1213	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	TMEM209_ENST00000336804.8_Missense_Mutation_p.R363Q|TMEM209_ENST00000462753.1_Missense_Mutation_p.R363Q|TMEM209_ENST00000473456.1_Missense_Mutation_p.R364Q|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	364						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					ACAACCCATTCGTCTCATCTG	0.393000													5	9					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52565218	52565218	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:52565218C>A	ENST00000394815.2	-	9	1420	c.1323G>T	c.(1321-1323)gaG>gaT	p.E441D	KRT80_ENST00000313234.5_3'UTR	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	441	Tail.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		AGAAGTACTTCTCTGACATTT	0.577000													41	53					2.54651e-27	3.44421e-27	1	1	0
ATR	545	broad.mit.edu	37	3	142180886	142180886	+	Missense_Mutation	SNP	C	C	T	rs142918229		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:142180886C>T	ENST00000350721.4	-	42	7209	c.7088G>A	c.(7087-7089)cGa>cAa	p.R2363Q	ATR_ENST00000383101.3_Missense_Mutation_p.R2299Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2363	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGCATATGTTCGAATATGAAG	0.313000								Other conserved DNA damage response genes					51	66					0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105520091	105520091	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:105520091G>A	ENST00000332180.5	+	12	1076	c.989G>A	c.(988-990)cGa>cAa	p.R330Q		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	330					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CAGATTTTTCGAACTATTGAT	0.299000													17	17					0	0	1	0	0
IFI27L2	83982	broad.mit.edu	37	14	94594976	94594976	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:94594976G>A	ENST00000238609.3	-	3	173	c.74C>T	c.(73-75)gCc>gTc	p.A25V	IFI27L2_ENST00000556727.1_5'UTR	NM_032036.2	NP_114425.1	Q9H2X8	I27L2_HUMAN	interferon, alpha-inducible protein 27-like 2	25						integral to membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	8						GAAGCCCATGGCACTGAGCAC	0.662000													13	15					0	0	1	0	0
RPS6KB1	6198	broad.mit.edu	37	17	58013630	58013630	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:58013630G>T	ENST00000225577.4	+	11	1054	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	RPS6KB1_ENST00000443572.2_Nonsense_Mutation_p.E322*|RPS6KB1_ENST00000393021.3_Nonsense_Mutation_p.E292*|RPS6KB1_ENST00000406116.3_Nonsense_Mutation_p.E345*	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	345	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			GGACGCTGGAGAAGTTCAAGT	0.408000													44	55					4.62893e-10	5.20365e-10	1	1	0
WBP11P1	441818	broad.mit.edu	37	18	30091775	30091775	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:30091775C>A	ENST00000567636.1	+	0	150					NR_003558.1																						cttttcttttctttttctttt	0.418000													13	11					0.00010058	0.000104397	1	1	0
AGPAT6	137964	broad.mit.edu	37	8	41467224	41467224	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:41467224C>T	ENST00000396987.3	+	4	1213	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	96					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CAAAGAGATTCGTCGAAGTGG	0.473000													45	67					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26750037	26750037	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:26750037C>T	ENST00000264866.4	+	19	1602	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	TBC1D19_ENST00000511789.1_Missense_Mutation_p.R377C	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	442	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TTATAGACTTCGCATATCATT	0.353000													31	50					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79366809	79366809	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:79366809T>G	ENST00000264895.6	+	42	6239	c.5799T>G	c.(5797-5799)ttT>ttG	p.F1933L	FRAS1_ENST00000325942.6_Missense_Mutation_p.F1933L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1932					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						TTTTTAGTTTTTATGTGAGTG	0.388000													128	112					0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50811754	50811754	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:50811754G>A	ENST00000540145.1	+	8	1455	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	CYLD_ENST00000566206.1_Missense_Mutation_p.G344E|CYLD_ENST00000311559.9_Missense_Mutation_p.G347E|CYLD_ENST00000564326.1_Missense_Mutation_p.G344E|CYLD_ENST00000568704.2_Missense_Mutation_p.G344E|CYLD_ENST00000569418.1_Missense_Mutation_p.G344E|CYLD_ENST00000398568.2_Missense_Mutation_p.G344E|CYLD_ENST00000427738.3_Missense_Mutation_p.G347E			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	347	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TCAGACCCTGGAAATAGAAAC	0.294000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				39	49					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108186556	108186556	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:108186556C>A	ENST00000278616.4	+	41	6398	c.6013C>A	c.(6013-6015)Ctc>Atc	p.L2005I	ATM_ENST00000452508.2_Missense_Mutation_p.L2005I|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2005	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCAGGATCTTCTCTTAGAAAT	0.323000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			18	23					1.02788e-11	1.18115e-11	1	1	0
NSUN2	54888	broad.mit.edu	37	5	6632729	6632729	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:6632729T>G	ENST00000264670.6	-	2	548	c.237A>C	c.(235-237)agA>agC	p.R79S	NSUN2_ENST00000506139.1_Missense_Mutation_p.R79S|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	79						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AACCAGTAATTCTTAAAGTGG	0.552000													90	115					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169327152	169327152	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:169327152T>G	ENST00000511577.1	-	24	3409	c.3162A>C	c.(3160-3162)gaA>gaC	p.E1054D	DDX60L_ENST00000505890.1_Missense_Mutation_p.E1054D|DDX60L_ENST00000260184.7_Missense_Mutation_p.E1054D			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1054							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CCTTTAAGTTTTCTTCATATT	0.308000													5	11					0	0	1	0	0
MIR323A	442897	broad.mit.edu	37	14	101492149	101492149	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:101492149C>A	ENST00000362199.1	+	0	81					NR_029890.1																						TTTGCAGTATCTAATCCCGCC	0.562000													42	45					7.63091e-17	9.4094e-17	1	1	0
EFHB	151651	broad.mit.edu	37	3	19959755	19959755	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:19959755G>A	ENST00000295824.9	-	4	1307	c.1146C>T	c.(1144-1146)acC>acT	p.T382T	EFHB_ENST00000344838.4_Silent_p.T252T|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	382			T -> I (in dbSNP:rs2929366).		signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ATGTCGTATTGGTTGTGTCCA	0.363000													158	222					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56114127	56114127	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:56114127A>C	ENST00000279783.2	+	1	707	c.613A>C	c.(613-615)Att>Ctt	p.I205L		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					AGAATTAATAATTTTGATCTT	0.368000										HNSCC(65;0.19)			55	50					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156763487	156763487	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:156763487G>T	ENST00000537611.2	-	6	927	c.881C>A	c.(880-882)cCt>cAt	p.P294H		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	294						integral to membrane|plasma membrane											TTCTCCCCAAGGGTATTCTTG	0.388000													18	24					9.16793e-09	1.01164e-08	1	1	0
CCNT1	904	broad.mit.edu	37	12	49110359	49110359	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:49110359C>A	ENST00000261900.3	-	1	322	c.100G>T	c.(100-102)Gaa>Taa	p.E34*		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	34					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TAAGAAAGTTCTTTATCTGGG	0.522000											OREG0021767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	155					0.0381472	0.0384065	1	1	0
C11orf82	220042	broad.mit.edu	37	11	82642818	82642818	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:82642818C>A	ENST00000533655.1	+	6	650	c.438C>A	c.(436-438)ttC>ttA	p.F146L	C11orf82_ENST00000528759.1_Missense_Mutation_p.S53Y|C11orf82_ENST00000430323.2_Missense_Mutation_p.F146L|C11orf82_ENST00000525361.1_Missense_Mutation_p.F146L|C11orf82_ENST00000525388.1_Missense_Mutation_p.S107Y|C11orf82_ENST00000524921.1_Missense_Mutation_p.S107Y|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000329143.3_5'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	146					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CCAGTAACTTCTTACAGCAAT	0.383000													42	51					6.2361e-21	8.03701e-21	1	1	0
CCDC102B	79839	broad.mit.edu	37	18	66564537	66564537	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:66564537G>T	ENST00000360242.5	+	6	1252	c.1135G>T	c.(1135-1137)Gaa>Taa	p.E379*	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Nonsense_Mutation_p.E379*|CCDC102B_ENST00000319445.6_Nonsense_Mutation_p.E379*|CCDC102B_ENST00000358653.5_Nonsense_Mutation_p.E379*	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	379										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)				ACTGGAGAGAGAAAATAGAAG	0.398000													75	97					3.12118e-38	4.36999e-38	1	1	0
ATM	472	broad.mit.edu	37	11	108121759	108121759	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:108121759T>G	ENST00000278616.4	+	10	1952	c.1567T>G	c.(1567-1569)Ttc>Gtc	p.F523V	ATM_ENST00000452508.2_Missense_Mutation_p.F523V	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	523					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGACAGAGAATTCTGGAAGTT	0.403000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			77	73					0	0	1	0	0
AKT3	10000	broad.mit.edu	37	1	243663058	243663058	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:243663058T>G	ENST00000336199.5	-	13	1450	c.1385A>C	c.(1384-1386)aAc>aCc	p.N462T	SDCCAG8_ENST00000366541.3_Splice_Site_p.L705V|SDCCAG8_ENST00000355875.4_Splice_Site_p.L662V|AKT3_ENST00000366540.1_Missense_Mutation_p.N462T|SDCCAG8_ENST00000343783.6_Splice_Site_p.L560V	NM_181690.2	NP_859029.1	Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	462	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TTTTTTCCAGTTACCCAGCAT	0.318000													11	14					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369440	86369440	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:86369440G>T	ENST00000400286.2	-	2	1802	c.1204C>A	c.(1204-1206)Ctt>Att	p.L402I		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	402						integral to membrane		p.L402I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CCTTCTTCAAGAACTTCAATA	0.358000													20	22					1.96292e-10	2.21926e-10	1	1	0
PRKG2	5593	broad.mit.edu	37	4	82088363	82088363	+	Missense_Mutation	SNP	C	C	A	rs144720151	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:82088363C>A	ENST00000395578.1	-	6	980	c.864G>T	c.(862-864)aaG>aaT	p.K288N	PRKG2_ENST00000264399.1_Missense_Mutation_p.K288N|PRKG2_ENST00000418486.2_Missense_Mutation_p.K288N|RP11-100N20.1_ENST00000512502.1_RNA			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	288					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.K288N(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CAGGTAAATTCTTCAGCAAGG	0.259000													6	14					0.0293803	0.0296024	1	1	0
CHRNA10	57053	broad.mit.edu	37	11	3690573	3690573	+	Missense_Mutation	SNP	C	C	T	rs148199158		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:3690573C>T	ENST00000250699.2	-	3	286	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	CHRNA10_ENST00000534359.1_5'UTR|CHRNA10_ENST00000493827.2_5'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	72					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CACCTGGTTCCGTTCATCCTA	0.582000													21	37					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132539678	132539678	+	Silent	SNP	C	C	T	rs139421731		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:132539678C>T	ENST00000333577.4	+	46	8026	c.7917C>T	c.(7915-7917)atC>atT	p.I2639I	EP400_ENST00000330386.6_Silent_p.I2522I|EP400_ENST00000389562.2_Silent_p.I2602I|EP400_ENST00000332482.4_Silent_p.I2566I|EP400_ENST00000389561.2_Silent_p.I2603I			Q96L91	EP400_HUMAN	E1A binding protein p400	2639	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGAACACCATCGCAGGGGTCC	0.597000													16	12					0	0	1	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93163933	93163933	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:93163933T>G	ENST00000344636.3	+	12	1286	c.1102T>G	c.(1102-1104)Tct>Gct	p.S368A		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	368					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CAAGAAAATATCTTTATTCAC	0.313000													38	49					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200959350	200959350	+	Silent	SNP	G	G	A	rs140659113		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:200959350G>A	ENST00000332129.2	-	20	3262	c.2946C>T	c.(2944-2946)atC>atT	p.I982I	KIF21B_ENST00000360529.5_Silent_p.I982I|KIF21B_ENST00000422435.2_Silent_p.I982I|KIF21B_ENST00000461742.2_Silent_p.I982I	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	982					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCAGCACCTCGATCTCCTCAG	0.632000													33	42					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013312	99013312	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:99013312C>T	ENST00000393504.1	+	8	2096	c.1679C>T	c.(1678-1680)tCg>tTg	p.S560L	CNGA3_ENST00000436404.2_Missense_Mutation_p.S542L|CNGA3_ENST00000272602.2_Missense_Mutation_p.S560L|CNGA3_ENST00000409937.1_Missense_Mutation_p.S564L	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	560					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGGAGCAAGTCGGGGAACCGC	0.592000													81	118					0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78335218	78335218	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:78335218G>A	ENST00000466548.1	+	7	1630	c.1604G>A	c.(1603-1605)cGa>cAa	p.R535Q	SLAIN1_ENST00000488699.1_Missense_Mutation_p.R393Q|SLAIN1_ENST00000267219.8_Missense_Mutation_p.R316Q|SLAIN1_ENST00000314070.5_Missense_Mutation_p.R158Q|SLAIN1_ENST00000351546.3_Missense_Mutation_p.R272Q|SLAIN1_ENST00000418532.1_Missense_Mutation_p.R316Q|SLAIN1_ENST00000358679.3_Missense_Mutation_p.R272Q	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	535										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AACCTGCCTCGAAGCAAAATT	0.463000													31	28					0	0	1	0	0
ZFAND3	60685	broad.mit.edu	37	6	38084505	38084505	+	Silent	SNP	G	G	A	rs147623990		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:38084505G>A	ENST00000287218.4	+	5	966	c.519G>A	c.(517-519)tcG>tcA	p.S173S	ZFAND3_ENST00000373391.2_Silent_p.S151S	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	173							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						AATTGGGATCGTGTCGCTGCG	0.527000													29	37					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109978075	109978075	+	Missense_Mutation	SNP	C	C	T	rs138595287		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:109978075C>T	ENST00000424296.2	-	8	719	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.E215K|AK9_ENST00000285397.5_Missense_Mutation_p.E215K	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		ATCTGCATTTCGGCAATAAAT	0.338000													17	19					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69327567	69327567	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:69327567G>A	ENST00000305363.4	+	2	104	c.40G>A	c.(40-42)Gtt>Att	p.V14I		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	14					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TAGGAAAAGAGTTTGTTGGGA	0.413000													137	181					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758204	99758204	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:99758204G>A	ENST00000360039.4	-	4	1200	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R270C|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R208C|GAL3ST4_ENST00000411994.1_Silent_p.I168I|GAL3ST4_ENST00000423751.1_Silent_p.I168I	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	270					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCTGGCTGCGATGATCAGTA	0.557000													95	108					0	0	1	0	0
SAP30	8819	broad.mit.edu	37	4	174294593	174294593	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:174294593G>A	ENST00000296504.3	+	2	608	c.368G>A	c.(367-369)cGa>cAa	p.R123Q		NM_003864.3	NP_003855.1	O75446	SAP30_HUMAN	Sin3A-associated protein, 30kDa	123	Interaction with NCOR1 (By similarity).				transcription, DNA-dependent	histone deacetylase complex	DNA binding|metal ion binding|protein binding|transcription corepressor activity	p.R123Q(1)		large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		CAGAGTGTTCGAAACAGAAGA	0.348000													66	6					0	0	1	0	0
FAM110C	642273	broad.mit.edu	37	2	45600	45600	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:45600C>T	ENST00000327669.4	-	1	785	c.786G>A	c.(784-786)cgG>cgA	p.R262R		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	262						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CGCCGCTGTGCCGGGAGAAGC	0.672000													20	13					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36321798	36321798	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:36321798C>A	ENST00000378910.5	-	28	3541	c.3542G>T	c.(3541-3543)aGa>aTa	p.R1181I	NPHS1_ENST00000353632.6_Missense_Mutation_p.R1141I	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1181	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGTACGTTCTTTCTACCTC	0.547000													57	81					2.73381e-35	3.80464e-35	1	1	0
CPNE2	221184	broad.mit.edu	37	16	57159811	57159811	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:57159811G>A	ENST00000535318.2	+	12	1328	c.967G>A	c.(967-969)Gac>Aac	p.D323N	CPNE2_ENST00000565874.1_Missense_Mutation_p.D323N|CPNE2_ENST00000290776.8_Missense_Mutation_p.D323N|CPNE2_ENST00000565951.1_3'UTR|CPNE2_ENST00000537605.1_Missense_Mutation_p.D221N			Q96FN4	CPNE2_HUMAN	copine II	323	VWFA.							p.D323N(1)		central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GAATCCCCTCGACCCTTCCTC	0.547000													13	29					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207649651	207649651	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:207649651C>A	ENST00000367057.3	+	15	2978	c.2789C>A	c.(2788-2790)tCt>tAt	p.S930Y	CR2_ENST00000367058.3_Missense_Mutation_p.S871Y|CR2_ENST00000367059.3_Intron|CR2_ENST00000458541.2_Missense_Mutation_p.S844Y	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	871	Sushi 15.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GCTCGATTTTCTCCTGGAATG	0.517000													30	42					2.90539e-05	3.04709e-05	1	1	0
CHD7	55636	broad.mit.edu	37	8	61693942	61693942	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:61693942G>A	ENST00000423902.2	+	3	2528	c.2049G>A	c.(2047-2049)aaG>aaA	p.K683K	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Silent_p.K683K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	683	Lys-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAAAGGAAAAGAAAGCAAAAA	0.448000													6	9					0	0	1	0	0
UFC1	51506	broad.mit.edu	37	1	161128267	161128267	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:161128267G>T	ENST00000368003.5	+	6	735	c.489G>T	c.(487-489)gaG>gaT	p.E163D	RP11-297K8.2_ENST00000420498.1_RNA	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	163					protein ufmylation		protein binding|UFM1 conjugating enzyme activity			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AACACAAAGAGAAATGCAACC	0.463000													47	52					4.10826e-27	5.54808e-27	1	1	0
TMF1	7110	broad.mit.edu	37	3	69088121	69088121	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:69088121C>A	ENST00000543976.1	-	7	2122	c.1876G>T	c.(1876-1878)Gaa>Taa	p.E626*	TMF1_ENST00000398559.2_Nonsense_Mutation_p.E623*|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	623					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTAATATTTTCTCTATGTTGT	0.333000													20	29					2.4624e-09	2.74096e-09	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55591192	55591192	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:55591192C>T	ENST00000373965.2	-	31	4500	c.4106G>A	c.(4105-4107)aGc>aAc	p.S1369N	PCDH15_ENST00000395430.1_Missense_Mutation_p.S1362N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1340N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1291N|PCDH15_ENST00000395438.1_Missense_Mutation_p.S1362N|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1325N|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1362N|PCDH15_ENST00000409834.1_Missense_Mutation_p.S973N|PCDH15_ENST00000414778.1_Missense_Mutation_p.S1367N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.S1369N|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1362N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1362					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)				CTTTTTAATGCTGGTCACTGC	0.473000										HNSCC(58;0.16)			46	52					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17191216	17191216	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:17191216C>A	ENST00000265970.7	-	1	72	c.73G>T	c.(73-75)Gat>Tat	p.D25Y	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	25	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TTGTCCACATCTTTTGCTCTT	0.423000													58	71					3.28156e-27	4.43276e-27	1	1	0
EBF3	253738	broad.mit.edu	37	10	131676068	131676068	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:131676068C>A	ENST00000368648.3	-	7	672	c.600G>T	c.(598-600)aaG>aaT	p.K200N	EBF3_ENST00000355311.5_Missense_Mutation_p.K200N	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	200	Interaction with DNA (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGCCTGCATTCTTCAAACAGT	0.358000													16	19					9.16793e-09	1.01164e-08	1	1	0
DST	667	broad.mit.edu	37	6	56483568	56483568	+	Missense_Mutation	SNP	C	C	T	rs138995714	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:56483568C>T	ENST00000370765.6	-	23	5371	c.5264G>A	c.(5263-5265)cGg>cAg	p.R1755Q	DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1147					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATCTTCTTCCGAAACTCCTC	0.378000													65	84					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	19999111	19999111	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:19999111T>C	ENST00000400230.2	-	19	1486	c.1442A>G	c.(1441-1443)aAc>aGc	p.N481S	TPTE2_ENST00000382975.4_Missense_Mutation_p.N441S|TPTE2_ENST00000382978.1_Missense_Mutation_p.N441S|TPTE2_ENST00000457266.2_Missense_Mutation_p.N370S|TPTE2_ENST00000390680.2_Missense_Mutation_p.N404S|TPTE2_ENST00000382977.4_Missense_Mutation_p.N481S|TPTE2_ENST00000400103.2_Missense_Mutation_p.N370S|TPTE2_ENST00000255310.6_Missense_Mutation_p.N404S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	481	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	p.N404S(1)|p.N481S(1)		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)		AAAAGACGTGTTGAACCAGAA	0.294000													6	10					0	0	1	0	0
NECAB2	54550	broad.mit.edu	37	16	84014687	84014687	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:84014687G>A	ENST00000565691.1	+	3	887	c.165G>A	c.(163-165)gaG>gaA	p.E55E	NECAB2_ENST00000305202.4_Silent_p.E138E			Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	138					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CCTCCCTGGAGACCTTGAATC	0.582000													59	82					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31927273	31927273	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:31927273G>A	ENST00000300870.10	+	4	1912	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	568					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CGACATCATCGAATTCATACT	0.388000													53	3					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157556222	157556222	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:157556222G>T	ENST00000271532.1	-	6	1006	c.871C>A	c.(871-873)Ctg>Atg	p.L291M	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	291	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGGGTCTCCAGGAGCACCCCA	0.622000													44	45					2.00842e-17	2.49381e-17	1	1	0
AGBL5	60509	broad.mit.edu	37	2	27279541	27279541	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:27279541C>T	ENST00000360131.4	+	8	1575	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	AGBL5_ENST00000323064.8_Silent_p.F472F	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	472					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCCACTTCGACTTCCAGG	0.478000													74	77					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436728	179436728	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179436728C>A	ENST00000589042.1	-	326	74355	c.74131G>T	c.(74131-74133)Gat>Tat	p.D24711Y	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D15646Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D15838Y|TTN_ENST00000359218.5_Missense_Mutation_p.D15771Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D22143Y|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D23070Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23070	Fibronectin type-III 79.						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)			ATGACAAGATCTTTGGCGATC	0.448000													17	16					3.41278e-10	3.84949e-10	1	1	0
CCDC147	159686	broad.mit.edu	37	10	106159203	106159203	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:106159203G>A	ENST00000369704.3	+	12	1894	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	587										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AAACTCCTGCGAATAATTGCT	0.473000													15	21					0	0	1	0	0
ZXDA	7789	broad.mit.edu	37	X	57934499	57934499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:57934499C>A	ENST00000358697.4	-	1	2568	c.2356G>T	c.(2356-2358)Gaa>Taa	p.E786*		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	786					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						AGATTTCTTTCTTTCTGAGAA	0.433000													45	8					2.64894e-19	3.36353e-19	1	1	0
ECT2	1894	broad.mit.edu	37	3	172482138	172482138	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:172482138G>A	ENST00000417960.1	+	12	1520	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q	ECT2_ENST00000427830.1_Missense_Mutation_p.R349Q|ECT2_ENST00000540509.1_Missense_Mutation_p.R380Q|ECT2_ENST00000441497.2_Missense_Mutation_p.R349Q|ECT2_ENST00000232458.5_Missense_Mutation_p.R349Q|ECT2_ENST00000392692.3_Missense_Mutation_p.R380Q	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	349					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AATCGCAAACGACGTCGTTTA	0.438000													46	44					0	0	1	0	0
SOWAHD	347454	broad.mit.edu	37	X	118893527	118893527	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:118893527G>A	ENST00000343905.3	+	1	952	c.897G>A	c.(895-897)gcG>gcA	p.A299A		NM_001105576.2	NP_001099046.1	A6NJG2	ANR58_HUMAN	sosondowah ankyrin repeat domain family member D	299																	GCCGGGTGGCGCAAATGCATA	0.652000													20	1					0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46443274	46443274	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:46443274G>A	ENST00000263257.5	-	4	1520	c.1326C>T	c.(1324-1326)atC>atT	p.I442I		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	442	KH 3.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		CCTTCTTGGAGATCTGGATGC	0.652000													82	110					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57758372	57758372	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:57758372C>A	ENST00000269122.3	+	19	3293	c.3019C>A	c.(3019-3021)Ctg>Atg	p.L1007M	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.L1007M	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1007	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACTCATTGAACTGCTGGAGAA	0.393000			T	"""ALK, TFE3"""	"""ALCL, renal """								45	72					6.57855e-14	7.79285e-14	1	1	0
C9orf9	11092	broad.mit.edu	37	9	135763713	135763713	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:135763713C>T	ENST00000372136.3	+	4	831	c.384C>T	c.(382-384)gaC>gaT	p.D128D	C9orf9_ENST00000350499.6_Silent_p.D128D|C9orf9_ENST00000356311.5_Silent_p.D128D			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	128								p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		TCAGCTGTGACGAGGCCCGGA	0.612000													27	39					0	0	1	0	0
HAUS3	79441	broad.mit.edu	37	4	2242294	2242294	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:2242294G>A	ENST00000243706.4	-	2	609	c.380C>T	c.(379-381)gCt>gTt	p.A127V	HAUS3_ENST00000506763.1_Missense_Mutation_p.A127V|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.A127V|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	127					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGTTACTGAAGCCATCAATTG	0.363000													33	38					0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22307567	22307567	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:22307567C>T	ENST00000337107.6	+	4	283	c.264C>T	c.(262-264)taC>taT	p.Y88Y		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	88	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGGGCGAGTACGACCGTGCTG	0.637000											OREG0013210	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	54					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160763758	160763758	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:160763758T>C	ENST00000274547.2	-	7	777	c.560A>G	c.(559-561)gAc>gGc	p.D187G	GABRB2_ENST00000353437.6_Missense_Mutation_p.D187G|GABRB2_ENST00000517901.1_Missense_Mutation_p.D124G|GABRB2_ENST00000393959.1_Missense_Mutation_p.D187G|GABRB2_ENST00000517547.1_Missense_Mutation_p.D27G|GABRB2_ENST00000520240.1_Missense_Mutation_p.D187G	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	187					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAACTCAATGTCATCAGTTGT	0.343000													30	25					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360920	42360920	+	Missense_Mutation	SNP	C	C	T	rs143897378		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:42360920C>T	ENST00000298119.4	+	4	3042	c.1853C>T	c.(1852-1854)tCg>tTg	p.S618L	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	618						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GAAACTTGTTCGAGTCAGGAC	0.488000										HNSCC(30;0.082)			23	22					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18234766	18234766	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:18234766G>A	ENST00000380033.4	-	2	245	c.113C>T	c.(112-114)tCc>tTc	p.S38F	BEND2_ENST00000380030.3_Missense_Mutation_p.S38F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	38										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GTCATTAGTGGAATTATCTGC	0.393000													19	2					0	0	1	0	0
NUBPL	80224	broad.mit.edu	37	14	32031311	32031311	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:32031311G>T	ENST00000281081.7	+	2	191	c.146G>T	c.(145-147)aGa>aTa	p.R49I		NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	49					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		AAACAAAGAAGAACACAAATC	0.393000													14	20					1.36491e-13	1.60792e-13	1	1	0
ACSM1	116285	broad.mit.edu	37	16	20636753	20636753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:20636753G>A	ENST00000219151.4	-	12	1682	c.472C>T	c.(472-474)Cga>Tga	p.R158*	ACSM1_ENST00000307493.4_Nonsense_Mutation_p.R507*|ACSM1_ENST00000520010.1_Nonsense_Mutation_p.R507*			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	507					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						ACCTCCCCTCGAATCGGGTCT	0.602000													11	15					0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25697006	25697006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:25697006C>A	ENST00000243186.6	-	8	1184	c.1099G>T	c.(1099-1101)Gaa>Taa	p.E367*	RHCE_ENST00000413854.1_Intron|RHCE_ENST00000349438.4_Nonsense_Mutation_p.E349*|RHCE_ENST00000294413.7_Missense_Mutation_p.W393C|RHCE_ENST00000346452.4_Missense_Mutation_p.W242C|RHCE_ENST00000340849.4_Nonsense_Mutation_p.E262*|RHCE_ENST00000455194.1_Missense_Mutation_p.W288C|RHCE_ENST00000425135.1_Nonsense_Mutation_p.E303*|RHCE_ENST00000374352.2_Missense_Mutation_p.W377C|RHCE_ENST00000349320.3_Missense_Mutation_p.W377C			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	0						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGTGCTTTCCATATTTTGA	0.299000													26	29					5.61819e-17	6.93881e-17	1	1	0
ERGIC1	57222	broad.mit.edu	37	5	172336722	172336722	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:172336722G>A	ENST00000326654.2	+	2	288	c.73G>A	c.(73-75)Gac>Aac	p.D25N	ERGIC1_ENST00000393784.3_Missense_Mutation_p.D70N|ERGIC1_ENST00000523291.1_Missense_Mutation_p.D70N			Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	70					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGCAAGATCGACGTCAGTCT	0.527000													33	67					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133253184	133253184	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:133253184G>C	ENST00000320574.5	-	9	900	c.857C>G	c.(856-858)cCt>cGt	p.P286R	POLE_ENST00000535270.1_Missense_Mutation_p.P259R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	286					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.P286H(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTCAGCATCAGGAAACTTGAG	0.493000								DNA polymerases (catalytic subunits)					19	18					0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125988747	125988747	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:125988747G>T	ENST00000319286.5	+	3	391	c.237G>T	c.(235-237)gaG>gaT	p.E79D		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTCAAGATGAGATTTGGTGTC	0.393000										HNSCC(60;0.17)			31	55					1.21669e-08	1.34229e-08	1	1	0
RLF	6018	broad.mit.edu	37	1	40705776	40705776	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:40705776C>A	ENST00000372771.4	+	8	5429	c.5402C>A	c.(5401-5403)tCt>tAt	p.S1801Y		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1801					chromosome organization|DNA integration|DNA mediated transformation|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)			TTAAGTAATTCTTCACAGTCC	0.358000													55	62					5.57489e-27	7.5135e-27	1	1	0
CASC5	57082	broad.mit.edu	37	15	40913171	40913171	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:40913171G>T	ENST00000346991.5	+	11	1177	c.787G>T	c.(787-789)Gaa>Taa	p.E263*	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Nonsense_Mutation_p.E237*			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	263	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCCTGATAAAGAAAATTTTGA	0.313000													18	32					3.99206e-14	4.73629e-14	1	1	0
C8A	731	broad.mit.edu	37	1	57320640	57320640	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:57320640G>T	ENST00000361249.3	+	1	162	c.66G>T	c.(64-66)gaG>gaT	p.E22D		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	22					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTGCACAGGAGAAGGTGAACC	0.463000													6	16					2.0095e-06	2.14548e-06	1	1	0
DHFRL1	200895	broad.mit.edu	37	3	93779975	93779975	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:93779975A>T	ENST00000394221.2	-	2	830	c.381T>A	c.(379-381)aaT>aaA	p.N127K	DHFRL1_ENST00000314636.2_Missense_Mutation_p.N127K|DHFRL1_ENST00000481631.1_Intron	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	127	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						GGCCTAGGTGATTCATGGCTT	0.368000													72	71					0	0	1	0	0
TASP1	55617	broad.mit.edu	37	20	13415694	13415694	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:13415694G>A	ENST00000337743.4	-	12	1213	c.1093C>T	c.(1093-1095)Cta>Tta	p.L365L	TASP1_ENST00000539805.1_3'UTR|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	365					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CACTTACCTAGAAGTGTCTGC	0.398000													8	9					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829494	146829494	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:146829494A>G	ENST00000361727.3	+	8	1757	c.1241A>G	c.(1240-1242)cAc>cGc	p.H414R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	414	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)			GTCTTCAGTCACTTTGCGGAT	0.478000										HNSCC(39;0.1)			26	38					0	0	1	0	0
CIDECP	152302	broad.mit.edu	37	3	10065384	10065384	+	RNA	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:10065384A>C	ENST00000432401.1	-	0	364																											GGGCCACATCAATCTTCTTGG	0.507000													47	45					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67793126	67793126	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:67793126T>G	ENST00000422365.2	+	8	923	c.752T>G	c.(751-753)aTt>aGt	p.I251S	MCMDC2_ENST00000396592.3_Missense_Mutation_p.I251S|MCMDC2_ENST00000541540.1_Missense_Mutation_p.I188S|MCMDC2_ENST00000313616.5_Missense_Mutation_p.I251S|MCMDC2_ENST00000492775.1_Missense_Mutation_p.I251S	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	251					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						GAATATAAAATTATTGGAATT	0.259000													18	27					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195498553	195498553	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:195498553G>T	ENST00000463781.3	-	5	13671	c.13212C>A	c.(13210-13212)ttC>ttA	p.F4404L	MUC4_ENST00000349607.4_Missense_Mutation_p.F117L|MUC4_ENST00000346145.4_Missense_Mutation_p.F168L|MUC4_ENST00000475231.1_Missense_Mutation_p.F4404L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1161					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACCAGTGGAGAAGTCAGCAT	0.587000													15	38					0.000308642	0.00031825	1	1	0
UACA	55075	broad.mit.edu	37	15	70960625	70960625	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:70960625C>T	ENST00000322954.6	-	16	2583	c.2398G>A	c.(2398-2400)Gaa>Aaa	p.E800K	UACA_ENST00000560441.1_Missense_Mutation_p.E785K|UACA_ENST00000379983.2_Missense_Mutation_p.E787K|UACA_ENST00000539319.1_Missense_Mutation_p.E691K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	800						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AACACAGTTTCTAGGCGGCTT	0.333000													24	20					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225738788	225738788	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:225738788G>T	ENST00000409592.3	-	11	1277	c.1164C>A	c.(1162-1164)atC>atA	p.I388I	DOCK10_ENST00000258390.7_Silent_p.I394I			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	394							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGATGATCATGATTCTCTTGG	0.368000													14	2					0.000219431	0.00022692	1	1	0
RMI1	80010	broad.mit.edu	37	9	86616937	86616937	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:86616937G>A	ENST00000325875.3	+	3	1368	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	346					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CAGAAATGCCGATCGAAGTAT	0.343000													20	25					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142131394	142131394	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:142131394T>C	ENST00000264951.4	-	15	1822	c.1705A>G	c.(1705-1707)Att>Gtt	p.I569V	XRN1_ENST00000392981.2_Missense_Mutation_p.I569V	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	569					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACCTCATCAATAAAAGGGATT	0.343000													31	44					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236148799	236148799	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:236148799C>A	ENST00000264187.6	-	15	3017	c.2935G>T	c.(2935-2937)Gtc>Ttc	p.V979F	NID1_ENST00000366595.3_Missense_Mutation_p.V846F	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	979					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCAATGATGACTTTAGCCTGG	0.473000													19	15					1.28384e-07	1.39672e-07	1	1	0
TLL1	7092	broad.mit.edu	37	4	166964495	166964495	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:166964495G>A	ENST00000061240.2	+	12	2095	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	TLL1_ENST00000507499.1_Missense_Mutation_p.R483H	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	483	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GATGACTATCGCCCGATGAAA	0.418000													74	82					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78031830	78031830	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:78031830G>A	ENST00000370801.3	-	14	2978	c.2503C>T	c.(2503-2505)Cgg>Tgg	p.R835W	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.R341W	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CAATGCCACCGAACACCCTGG	0.383000													6	8					0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701947	8701947	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:8701947A>C	ENST00000329805.4	-	1	720	c.492T>G	c.(490-492)acT>acG	p.T164T		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	164						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GATCACGGAAAGTTTCTCGGT	0.567000													52	68					0	0	1	0	0
RGS21	431704	broad.mit.edu	37	1	192321194	192321194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:192321194C>T	ENST00000417209.2	+	4	280	c.106C>T	c.(106-108)Cga>Tga	p.R36*		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	36	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						AGATGCTTTTCGAATATTTCT	0.303000													12	15					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97365718	97365718	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:97365718G>A	ENST00000457909.1	+	0	4334							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CTACCTCCTAGAACGCTATGC	0.527000													37	46					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173998724	173998724	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:173998724G>T	ENST00000457714.1	+	7	2532	c.2103G>T	c.(2101-2103)aaG>aaT	p.K701N	NLGN1_ENST00000361589.4_Missense_Mutation_p.K701N|NLGN1_ENST00000545397.1_Missense_Mutation_p.K701N|NLGN1_ENST00000401917.3_Missense_Mutation_p.K741N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	718					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ACTACAAAAAGGATAAGAGGA	0.463000													36	41					6.19805e-25	8.23678e-25	1	1	0
EFR3A	23167	broad.mit.edu	37	8	132962330	132962330	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:132962330C>T	ENST00000254624.5	+	5	706	c.481C>T	c.(481-483)Cga>Tga	p.R161*	EFR3A_ENST00000519656.1_Nonsense_Mutation_p.R125*|EFR3A_ENST00000334503.4_Nonsense_Mutation_p.R161*	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	161						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TCCAGAAATACGAACAGAGTA	0.318000													8	9					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34042990	34042990	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:34042990G>A	ENST00000373381.4	-	49	7658	c.7482C>T	c.(7480-7482)aaC>aaT	p.N2494N		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2496	Sushi 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTAGCCGGCGTTGCAGCCAA	0.647000													43	54					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126748844	126748844	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:126748844T>C	ENST00000251772.4	+	27	4998	c.4929T>C	c.(4927-4929)cgT>cgC	p.R1643R	PLXNA1_ENST00000393409.2_Silent_p.R1666R			Q9UIW2	PLXA1_HUMAN	plexin A1	1666					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGGACCAGCGTGAGGGTGACC	0.667000													9	114					0	0	1	0	0
INTS9	55756	broad.mit.edu	37	8	28716981	28716981	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:28716981T>G	ENST00000416984.2	-	2	468	c.109A>C	c.(109-111)Aat>Cat	p.N37H	INTS9_ENST00000521022.1_Missense_Mutation_p.N37H|INTS9_ENST00000397363.4_Intron|INTS9_ENST00000521777.1_Missense_Mutation_p.N13H	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	37					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GGAAGGAAATTGAGGGTAGAA	0.433000													31	47					0	0	1	0	0
ZNF627	199692	broad.mit.edu	37	19	11727866	11727866	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:11727866G>A	ENST00000361113.5	+	4	756	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R183Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						GTAAGCATTCGAAGACACATG	0.403000													19	29					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972677	29972677	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:29972677G>T	ENST00000378993.1	+	10	1913	c.1240G>T	c.(1240-1242)Gtg>Ttg	p.V414L	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.V414L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	414	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ATACACCAAAGTGGATCCTGA	0.363000													30	1					2.47511e-08	2.72047e-08	1	1	0
PYGM	5837	broad.mit.edu	37	11	64514804	64514804	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:64514804C>T	ENST00000164139.3	-	18	2602	c.2204G>A	c.(2203-2205)cGc>cAc	p.R735H	PYGM_ENST00000377432.3_Missense_Mutation_p.R647H	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	735					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CTCAGGAATGCGATCGTAGTA	0.547000													24	42					0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931340	150931340	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:150931340G>A	ENST00000309170.3	-	3	1077	c.765C>T	c.(763-765)ccC>ccT	p.P255P	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Silent_p.P255P	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	255						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTTTGTGTAGGGGATTCTGG	0.403000													50	56					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127527689	127527689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:127527689G>A	ENST00000284690.3	-	9	2252	c.1762C>T	c.(1762-1764)Cga>Tga	p.R588*	DHX32_ENST00000284688.6_Nonsense_Mutation_p.R507*|DHX32_ENST00000368721.1_Nonsense_Mutation_p.R212*|BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000429863.2_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	588						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGTTCAGCTCGAATAACATCT	0.418000													67	78					0	0	1	0	0
NACAP1	83955	broad.mit.edu	37	8	102381646	102381646	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:102381646C>T	ENST00000419462.1	+	0	1058					NR_002182.1																						ACGAAGAGGTCGATGAAACAG	0.438000													27	41					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24856293	24856293	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:24856293T>G	ENST00000313367.2	-	18	2414	c.1963A>C	c.(1963-1965)Aac>Cac	p.N655H	OSBPL3_ENST00000396431.1_Missense_Mutation_p.N624H|OSBPL3_ENST00000431825.2_Missense_Mutation_p.N588H|OSBPL3_ENST00000396429.1_Missense_Mutation_p.N619H|OSBPL3_ENST00000353930.1_Missense_Mutation_p.N619H|OSBPL3_ENST00000409069.1_Missense_Mutation_p.N588H|OSBPL3_ENST00000352860.1_Missense_Mutation_p.N624H	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	655					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CAGAATTTGTTTTTCCATCTC	0.383000													45	51					0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	739801	739801	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:739801T>G	ENST00000584307.1	-	9	1241	c.1071A>C	c.(1069-1071)ttA>ttC	p.L357F	YES1_ENST00000577961.1_Missense_Mutation_p.L362F|YES1_ENST00000314574.4_Missense_Mutation_p.L357F			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	357	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TAAGGAAATCTAATAAGCTTC	0.343000													17	14					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12154851	12154851	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:12154851T>C	ENST00000602107.1	-	5	1505	c.1506A>G	c.(1504-1506)caA>caG	p.Q502Q	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Silent_p.Q455Q|CTD-2006C1.2_ENST00000476474.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTTTTCCACATTGCTTACACT	0.393000													21	28					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144096925	144096925	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:144096925C>T	ENST00000467773.1	-	6	1078	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	NOBOX_ENST00000483238.1_Missense_Mutation_p.R328Q|NOBOX_ENST00000223140.5_Missense_Mutation_p.R243Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	360			R -> Q.		cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTCCATTTTTCGCCACTTGGC	0.527000													7	13					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98211363	98211363	+	Silent	SNP	G	G	A	rs144312968	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:98211363G>A	ENST00000430669.2	-	22	4179	c.3594C>T	c.(3592-3594)ttC>ttT	p.F1198F	PTCH1_ENST00000375274.2_Silent_p.F1263F|PTCH1_ENST00000421141.1_Silent_p.F1113F|PTCH1_ENST00000429896.2_Silent_p.F1113F|PTCH1_ENST00000331920.6_Silent_p.F1264F|PTCH1_ENST00000437951.1_Silent_p.F1198F|PTCH1_ENST00000418258.1_Silent_p.F1113F			Q13635	PTC1_HUMAN	patched 1	1264					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGGAGTGGGCGAAGACGGGGT	0.652000													21	37					0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45668986	45668986	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:45668986C>T	ENST00000396659.3	-	2	440	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	GATM_ENST00000558336.1_Missense_Mutation_p.R34Q	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	34					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	CTGGAAAGTTCGCTGCACCCA	0.522000													14	27					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173517539	173517539	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:173517539C>T	ENST00000367714.3	-	12	1872	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	SLC9C2_ENST00000536496.1_Missense_Mutation_p.E382K|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	484					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GGAATGTATTCGATCCTCGTT	0.363000													31	36					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76094445	76094445	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:76094445C>T	ENST00000335749.4	+	18	5005	c.4436C>T	c.(4435-4437)tCg>tTg	p.S1479L	TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1479L|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1443L|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1443L|TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1443L|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1479L	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1447	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GACATCAAATCGACGTGGTCC	0.517000													13	17					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17701109	17701109	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:17701109C>T	ENST00000353383.1	+	3	5316	c.4847C>T	c.(4846-4848)tCc>tTc	p.S1616F	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1616						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GTTGTCAACTCCCCTGGAGAT	0.632000													48	82					0	0	1	0	0
NPM2	10361	broad.mit.edu	37	8	21892049	21892049	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:21892049A>C	ENST00000397940.1	+	7	1575	c.560A>C	c.(559-561)gAa>gCa	p.E187A	NPM2_ENST00000521157.1_Missense_Mutation_p.E187A|NPM2_ENST00000518119.1_Missense_Mutation_p.E187A|NPM2_ENST00000381530.5_Silent_p.G131G|NPM2_ENST00000289820.6_Missense_Mutation_p.E187A			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	187	Poly-Glu.				chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GAAGAAGAGGAaataaggtaa	0.378000													55	84					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134679384	134679384	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:134679384G>A	ENST00000370752.4	+	3	560	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	76	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCATGAGCGAACTAAAAAA	0.338000													30	2					0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951674	30951674	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:30951674C>T	ENST00000402321.1	-	3	855	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	GAL3ST1_ENST00000406955.1_Missense_Mutation_p.V180M|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.V180M|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.V180M|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.V180M|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.V180M|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.V180M			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	180					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						AGGGGCACCACCGGCCCGAAG	0.652000													53	56					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738875	138738875	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:138738875G>T	ENST00000329447.5	-	1	893	c.629C>A	c.(628-630)tCt>tAt	p.S210Y	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	210	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGGCGTGGAGAACGTCTCTC	0.617000													34	40					1.36161e-19	1.73429e-19	1	1	0
DST	667	broad.mit.edu	37	6	56417396	56417396	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:56417396G>A	ENST00000370754.5	-	61	16100	c.16101C>T	c.(16099-16101)ttC>ttT	p.F5367F	DST_ENST00000244364.6_Silent_p.F2775F|DST_ENST00000446842.2_Silent_p.F4863F|DST_ENST00000421834.2_Silent_p.F3101F|DST_ENST00000370788.2_Silent_p.F3101F|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Silent_p.F5187F|DST_ENST00000370769.4_Silent_p.F5189F			Q03001	DYST_HUMAN	dystonin	5187					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.F5189F(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAAACTCTGCGAACTGAGAAA	0.408000													14	23					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90994993	90994993	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:90994993C>T	ENST00000265433.3	-	2	282	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	NBN_ENST00000409330.1_5'UTR	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	43	FHA.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AGCATGATTTCGGCTGATCGA	0.378000								Homologous recombination					50	64					0	0	1	0	0
MAGED2	10916	broad.mit.edu	37	X	54841145	54841145	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:54841145C>A	ENST00000375068.1	+	11	1556	c.1323C>A	c.(1321-1323)ttC>ttA	p.F441L	MAGED2_ENST00000375060.1_Missense_Mutation_p.F356L|MAGED2_ENST00000375058.1_Missense_Mutation_p.F441L|MAGED2_ENST00000375062.4_Missense_Mutation_p.F356L|MAGED2_ENST00000375053.2_Missense_Mutation_p.F441L|MAGED2_ENST00000396224.1_Missense_Mutation_p.F441L|MAGED2_ENST00000218439.4_Missense_Mutation_p.F441L|MAGED2_ENST00000347546.4_Missense_Mutation_p.F423L			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	441	MAGE.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						AATATGAGTTCTTCTGGGGCC	0.478000													21	4					3.8784e-16	4.74502e-16	1	1	0
RTKN	6242	broad.mit.edu	37	2	74657613	74657613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:74657613C>A	ENST00000305557.5	-	5	952	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	RTKN_ENST00000233330.6_Nonsense_Mutation_p.E86*|RTKN_ENST00000272430.5_Nonsense_Mutation_p.E136*	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	136					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TTGAAATATTCTGTGTCCTTC	0.512000													29	45					3.1745e-13	3.71752e-13	1	1	0
OR14A16	284532	broad.mit.edu	37	1	247978784	247978784	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:247978784G>T	ENST00000357627.1	-	1	247	c.248C>A	c.(247-249)tCt>tAt	p.S83Y		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GTGTATCAAAGAATTGGCGAT	0.453000													35	47					9.78485e-24	1.29037e-23	1	1	0
ARHGAP15	55843	broad.mit.edu	37	2	143913201	143913201	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:143913201G>A	ENST00000409869.1	+	3	319	c.142G>A	c.(142-144)Gat>Aat	p.D48N	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.D48N			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	48					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GATCCTCACCGATGTCGGGAA	0.423000													28	44					0	0	1	0	0
C20orf196	149840	broad.mit.edu	37	20	5753645	5753645	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:5753645C>A	ENST00000303142.6	+	2	221	c.134C>A	c.(133-135)tCt>tAt	p.S45Y	C20orf196_ENST00000378979.4_Missense_Mutation_p.S45Y	NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	45										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCTTTCAGTTCTTTGGAATTC	0.443000													55	68					1.74971e-23	2.3023e-23	1	1	0
VPRBP	9730	broad.mit.edu	37	3	51451487	51451487	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:51451487C>T	ENST00000335891.5	-	12	2510	c.2501G>A	c.(2500-2502)cGa>cAa	p.R834Q				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1283					interspecies interaction between organisms	cytoplasm|nucleus	protein binding	p.R1287Q(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ATGAAAAGTTCGAAGGTCCCA	0.408000													6	16					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31887643	31887643	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:31887643G>A	ENST00000396184.3	-	10	1123	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	PDE1C_ENST00000396182.2_Missense_Mutation_p.R307C|PDE1C_ENST00000396193.1_Missense_Mutation_p.R367C|PDE1C_ENST00000321453.7_Missense_Mutation_p.R307C|PDE1C_ENST00000396191.1_Missense_Mutation_p.R307C	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	307	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R307C(2)|p.R367C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGCAGAAGGCGATAAGCTGCA	0.403000													45	54					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230401059	230401059	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:230401059C>A	ENST00000366672.4	+	14	1458	c.1386C>A	c.(1384-1386)caC>caA	p.H462Q	GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000541865.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000543760.1_Missense_Mutation_p.H424Q	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	462	Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CTTTGGGACACTTTGCTGATG	0.517000													134	146					2.09584e-81	3.01921e-81	1	1	0
DARC	2532	broad.mit.edu	37	1	159175890	159175890	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:159175890T>C	ENST00000537147.1	+	3	1504	c.661T>C	c.(661-663)Ttg>Ctg	p.L221L	DARC_ENST00000368122.2_Silent_p.L221L|DARC_ENST00000368121.2_Silent_p.L223L|CTA-134P22.2_ENST00000609696.1_RNA			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	221					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTTTGTCTTGTTGCCATTGGG	0.537000													31	28					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34123273	34123273	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:34123273C>A	ENST00000389232.4	+	86	11514	c.11444C>A	c.(11443-11445)tCt>tAt	p.S3815Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3810Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3815					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S3814Y(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATTTTCAATTCTCTTACAGAA	0.378000													18	22					4.35082e-09	4.8279e-09	1	1	0
PHKG1	5260	broad.mit.edu	37	7	56148986	56148986	+	Missense_Mutation	SNP	C	C	T	rs148231327		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:56148986C>T	ENST00000452681.2	-	11	1170	c.1021G>A	c.(1021-1023)Gct>Act	p.A341T	PHKG1_ENST00000297373.2_Missense_Mutation_p.A309T|PHKG1_ENST00000537360.1_Missense_Mutation_p.A255T	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	309					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACGGTCAGAGCGATCACCTGC	0.677000													12	14					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155252578	155252578	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:155252578C>A	ENST00000392825.3	+	10	1799	c.1232C>A	c.(1231-1233)tCt>tAt	p.S411Y	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.S411Y	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	411						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAGCCCTTTTCTTGGTACCTA	0.353000													15	21					2.48551e-13	2.91259e-13	1	1	0
TSHZ2	128553	broad.mit.edu	37	20	51871901	51871901	+	Missense_Mutation	SNP	G	G	A	rs139065096	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:51871901G>A	ENST00000371497.5	+	2	2791	c.1904G>A	c.(1903-1905)cGc>cAc	p.R635H	TSHZ2_ENST00000603338.2_Missense_Mutation_p.R632H|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R632H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	635					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GATTCTTTCCGCAAAAGTGAA	0.522000													48	63					0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74060169	74060169	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:74060169C>T	ENST00000307877.2	-	4	610	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	SRP68_ENST00000539137.1_Missense_Mutation_p.R112Q|SRP68_ENST00000355113.5_Missense_Mutation_p.R49Q	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	150					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	p.R150Q(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						AAACCGTTTTCGGGGTTCAGT	0.502000													65	72					0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169099069	169099069	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:169099069C>T	ENST00000359299.3	+	8	749	c.563C>T	c.(562-564)aCg>aTg	p.T188M		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	188							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CAGCAGAAGACGGGGGAGCAC	0.502000													11	98					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73064005	73064005	+	RNA	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:73064005A>G	ENST00000429829.1	-	0	8583					NR_001564.2																						CAACAAGCCAAGAAAAGGGGA	0.443000													75	3					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141259355	141259355	+	Silent	SNP	G	G	A	rs148504930		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:141259355G>A	ENST00000389484.3	-	55	9722	c.8751C>T	c.(8749-8751)ggC>ggT	p.G2917G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2917	LDL-receptor class A 20.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G2917G(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGAACCATCGCCACAGTCAT	0.408000										TSP Lung(27;0.18)			4	47					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167543103	167543103	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:167543103G>T	ENST00000295777.5	+	9	1656	c.1225G>T	c.(1225-1227)Gaa>Taa	p.E409*	SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Nonsense_Mutation_p.E409*	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	409					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TGATTTCGAAGAACTTTAAGT	0.333000													31	33					5.77227e-19	7.29122e-19	1	1	0
FAM83B	222584	broad.mit.edu	37	6	54804695	54804695	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:54804695C>T	ENST00000306858.7	+	5	1042	c.926C>T	c.(925-927)tCg>tTg	p.S309L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	309										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TACCAGCATTCGGTGTCTTCA	0.433000													39	45					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214816373	214816373	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:214816373G>A	ENST00000366955.3	+	12	4860	c.4692G>A	c.(4690-4692)gaG>gaA	p.E1564E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1660	2 X 96 AA approximate tandem repeats.		Missing.		cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGTCCCTCGAGAAGCTAGAAG	0.483000													31	31					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84733646	84733646	+	Nonsense_Mutation	SNP	G	G	T	rs148583360		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:84733646G>T	ENST00000372142.2	+	8	998	c.724G>T	c.(724-726)Gga>Tga	p.G242*	NRG3_ENST00000404547.1_Nonsense_Mutation_p.G463*|NRG3_ENST00000556918.1_Nonsense_Mutation_p.G293*|NRG3_ENST00000545131.1_Nonsense_Mutation_p.G113*|NRG3_ENST00000372141.2_Nonsense_Mutation_p.G463*|NRG3_ENST00000537893.1_Nonsense_Mutation_p.G113*|NRG3_ENST00000404576.2_Nonsense_Mutation_p.G267*	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	463	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TCCTGACAGAGGAAGCCAGTC	0.522000													18	27					1.02788e-11	1.18115e-11	1	1	0
BBS12	166379	broad.mit.edu	37	4	123664984	123664984	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:123664984G>T	ENST00000542236.1	+	3	2318	c.1937G>T	c.(1936-1938)aGa>aTa	p.R646I	BBS12_ENST00000314218.3_Missense_Mutation_p.R646I	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	646					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CTAAATAGTAGAATTTTTAAT	0.378000									Bardet-Biedl syndrome				26	25					7.07758e-08	7.72824e-08	1	1	0
ELFN2	114794	broad.mit.edu	37	22	37770227	37770227	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:37770227C>T	ENST00000402918.2	-	3	2133	c.1348G>A	c.(1348-1350)Ggc>Agc	p.G450S	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2							cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					ACAATGGAGCCGGCATCCACA	0.632000													86	111					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222805524	222805524	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:222805524G>T	ENST00000344922.5	+	5	3212	c.3187G>T	c.(3187-3189)Gaa>Taa	p.E1063*	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Nonsense_Mutation_p.E1063*|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1063					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACCACTGCATGAAGATAATTT	0.502000													41	59					2.54651e-27	3.44421e-27	1	1	0
DPP9	91039	broad.mit.edu	37	19	4700264	4700264	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:4700264C>A	ENST00000262960.9	-	10	1315	c.1038G>T	c.(1036-1038)ttG>ttT	p.L346F	DPP9_ENST00000598800.1_Missense_Mutation_p.L317F|DPP9_ENST00000597849.1_Missense_Mutation_p.L346F|DPP9_ENST00000594671.1_Missense_Mutation_p.L317F	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	317					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CAGCCAGTTTCAAGGCAATCT	0.592000													12	8					1.5842e-08	1.74448e-08	1	1	0
KPNA5	3841	broad.mit.edu	37	6	117013216	117013216	+	Splice_Site	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:117013216A>C	ENST00000368564.1	+	3	286		c.e3-1		KPNA5_ENST00000356348.1_Splice_Site			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)						NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TCTTTATTACAGTTGTTCAAA	0.348000													9	18					0	0	1	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52832698	52832698	+	RNA	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:52832698T>C	ENST00000451298.1	-	0	589																											GGTTTGGATGTTTCTTTGTCT	0.353000													4	4					0	0	1	0	0
SPAG8	26206	broad.mit.edu	37	9	35810088	35810088	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:35810088C>A	ENST00000484764.1	-	7	1321	c.1281G>T	c.(1279-1281)aaG>aaT	p.K427N	SPAG8_ENST00000340291.2_Intron|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Missense_Mutation_p.K435N			Q99932	SPAG8_HUMAN	sperm associated antigen 8	68						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTGCAGTTCTTCCGGAATG	0.493000													84	85					2.67039e-37	3.73197e-37	1	1	0
EDEM3	80267	broad.mit.edu	37	1	184675862	184675862	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:184675862G>A	ENST00000318130.8	-	18	2384	c.2118C>T	c.(2116-2118)atC>atT	p.I706I	EDEM3_ENST00000367512.3_Silent_p.I663I|EDEM3_ENST00000466392.1_5'UTR	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	706	PA.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.I663I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTATCAGTGCGATTTTTCCCA	0.433000													19	22					0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240923121	240923121	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:240923121G>A	ENST00000307300.4	-	11	1125	c.1103C>T	c.(1102-1104)aCt>aTt	p.T368I	NDUFA10_ENST00000252711.2_Intron|NDUFA10_ENST00000404554.1_Intron			O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	0					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	aaaacacacagtccaatctaa	0.522000													2	0					0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10398057	10398057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:10398057G>A	ENST00000393717.2	+	1	378	c.369G>A	c.(367-369)tgG>tgA	p.W123*	ICAM4_ENST00000340992.4_Nonsense_Mutation_p.W123*|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Nonsense_Mutation_p.W123*	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	123	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AAACACGCTGGGCCACCTCCA	0.672000													7	16					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120631537	120631537	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:120631537C>T	ENST00000427067.2	-	5	594	c.414G>A	c.(412-414)tcG>tcA	p.S138S	ENPP2_ENST00000522826.1_Silent_p.S142S|ENPP2_ENST00000259486.6_Silent_p.S142S|ENPP2_ENST00000075322.6_Silent_p.S142S			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	142	SMB 2.				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CAACCCAATGCGACTCTCCTA	0.378000													12	29					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35691333	35691333	+	Silent	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:35691333T>G	ENST00000440995.2	+	11	1719	c.1719T>G	c.(1717-1719)acT>acG	p.T573T	SPEF2_ENST00000356031.3_Silent_p.T573T|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Silent_p.T573T			Q9C093	SPEF2_HUMAN	sperm flagellar 2	573					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGGAAAAACTACCATTTTAA	0.388000													27	38					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372298	175372298	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:175372298G>A	ENST00000367674.2	-	4	1662	c.954C>T	c.(952-954)taC>taT	p.Y318Y	TNR_ENST00000263525.2_Silent_p.Y318Y			Q92752	TENR_HUMAN	tenascin R		EGF-like 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGGGCCCTGGTAGCCCTCTT	0.607000													32	37					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144782332	144782332	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:144782332G>T	ENST00000367545.3	+	21	2707		c.e21-1			NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TAAATAAACAGAACTGAAGGG	0.328000													36	41					2.42023e-17	3.00026e-17	1	1	0
ADRBK2	157	broad.mit.edu	37	22	26110491	26110491	+	Silent	SNP	C	C	T	rs147699642		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:26110491C>T	ENST00000324198.6	+	18	1800	c.1608C>T	c.(1606-1608)atC>atT	p.I536I		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2								ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CAGATAAAATCGAGGCCAGGA	0.388000													16	18					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106152090	106152090	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:106152090A>C	ENST00000369704.3	+	10	1599	c.1465A>C	c.(1465-1467)Aac>Cac	p.N489H		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	489										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACAGCAACAGAACCTATATGA	0.313000													31	55					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12184861	12184861	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:12184861G>A	ENST00000439326.3	+	2	194	c.19G>A	c.(19-21)Gag>Aag	p.E7K	ZNF844_ENST00000441304.2_Missense_Mutation_p.E7K	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	7	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GGTGGCTTTCGAGGATGTGGC	0.498000													53	59					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139170484	139170484	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:139170484C>T	ENST00000423192.1	+	8	1143	c.982C>T	c.(982-984)Ctt>Ttt	p.L328F	ECT2L_ENST00000367682.2_Missense_Mutation_p.L328F|ECT2L_ENST00000541398.1_Missense_Mutation_p.L259F			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	328					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CCTTCTGTATCTTATAGAAAA	0.458000			"""N, Splice, Mis"""		ETP ALL								35	38					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173873269	173873269	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:173873269T>C	ENST00000506823.1	+	10	1888	c.1231T>C	c.(1231-1233)Tcc>Ccc	p.S411P	GALNTL6_ENST00000508122.1_Missense_Mutation_p.S394P	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	411						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CAGGCATCTCTCCACGGGGGA	0.552000													32	51					0	0	1	0	0
POLR1C	9533	broad.mit.edu	37	6	43487902	43487902	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:43487902G>A	ENST00000372389.3	+	5	569	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	POLR1C_ENST00000372344.2_Missense_Mutation_p.E161K|POLR1C_ENST00000304004.3_Missense_Mutation_p.E161K	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	161					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TGACCCCAACGAACTGTACGT	0.502000													55	78					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208269384	208269384	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:208269384C>G	ENST00000367033.3	-	8	2729	c.1972G>C	c.(1972-1974)Gcc>Ccc	p.A658P		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	658					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGTTGGTGGGCACTGCAGTTG	0.493000													175	222					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617900	77617900	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:77617900C>T	ENST00000521891.2	+	2	2025	c.1577C>T	c.(1576-1578)tCg>tTg	p.S526L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S526L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S526L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S526L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	526	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCGTCCTCCTCGGCGACTGTT	0.423000										HNSCC(33;0.089)			24	35					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208727	140208727	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140208727G>T	ENST00000529310.1	+	1	1165	c.1051G>T	c.(1051-1053)Gca>Tca	p.A351S	PCDHA6_ENST00000527624.1_Missense_Mutation_p.A351S|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGAGATAGCACTGACTTC	0.488000													58	74					1.16018e-38	1.62608e-38	1	1	0
CYR61	3491	broad.mit.edu	37	1	86047888	86047888	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:86047888C>T	ENST00000451137.2	+	3	779	c.555C>T	c.(553-555)ttC>ttT	p.F185F		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	185					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AGCTGGGATTCGATGCCTCCG	0.552000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	148					0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66853596	66853596	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:66853596C>A	ENST00000341509.5	-	5	669	c.538G>T	c.(538-540)Gac>Tac	p.D180Y	LCTL_ENST00000537670.1_Missense_Mutation_p.D7Y	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	180					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGGCGTAGTCTCTGAAGTAG	0.547000													80	96					8.87156e-34	1.23016e-33	1	1	0
LPHN2	23266	broad.mit.edu	37	1	82452991	82452991	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:82452991T>G	ENST00000370715.1	+	20	3692	c.3476T>G	c.(3475-3477)cTg>cGg	p.L1159R	LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370725.1_Intron|LPHN2_ENST00000370728.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000394879.1_Intron			O95490	LPHN2_HUMAN	latrophilin 2	1172					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)		TCACATGGTCTGAGAGCCCAT	0.313000													21	18					0	0	1	0	0
CLDND1	56650	broad.mit.edu	37	3	98240496	98240496	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:98240496C>T	ENST00000503004.1	-	1	862		c.e1+1		CLDND1_ENST00000394180.2_Splice_Site|CLDND1_ENST00000507874.1_Splice_Site|CLDND1_ENST00000510545.1_Splice_Site|CLDND1_ENST00000394181.2_Splice_Site|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000437922.1_Splice_Site|CLDND1_ENST00000513287.1_Intron|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000394185.2_Splice_Site|CLDND1_ENST00000341181.6_Intron|CLDND1_ENST00000508503.1_Splice_Site			Q9NY35	CLDN1_HUMAN	claudin domain containing 1							integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TGCTCACATACCCAGGATGCT	0.328000													8	15					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089006	113089006	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:113089006C>A	ENST00000409871.1	+	12	2912	c.2511C>A	c.(2509-2511)ttC>ttA	p.F837L	ZC3H6_ENST00000343936.4_Missense_Mutation_p.F837L	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	837							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AAAAAGCTTTCTTAATACCTT	0.393000													47	51					3.05275e-18	3.82976e-18	1	1	0
ARID4A	5926	broad.mit.edu	37	14	58831593	58831593	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:58831593G>T	ENST00000355431.3	+	20	3159	c.2786G>T	c.(2785-2787)aGa>aTa	p.R929I	ARID4A_ENST00000395168.3_Missense_Mutation_p.R929I|ARID4A_ENST00000431317.2_Missense_Mutation_p.R929I|ARID4A_ENST00000348476.3_Missense_Mutation_p.R929I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	929					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACTAGTGAAAGATTTGATAGT	0.378000													5	87					0.014758	0.0149174	1	1	0
OR2AK2	391191	broad.mit.edu	37	1	248128636	248128636	+	Translation_Start_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:248128636G>T	ENST00000366480.3	+	1	102	c.3G>T	c.(1-3)atG>atT	p.M1I	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			attattacatgaacatttcag	0.328000													18	22					9.16793e-09	1.01164e-08	1	1	0
SEMA6B	10501	broad.mit.edu	37	19	4550944	4550944	+	Splice_Site	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:4550944T>G	ENST00000586582.1	-	11	1300		c.e11-2		SEMA6B_ENST00000586965.1_Splice_Site|SEMA6B_ENST00000301293.3_Splice_Site	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B						cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGATGCTGAGGGGTTGG	0.607000													40	53					0	0	1	0	0
ALG8	79053	broad.mit.edu	37	11	77832130	77832130	+	Silent	SNP	G	G	A	rs144501219		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:77832130G>A	ENST00000376156.3	-	4	462	c.459C>T	c.(457-459)ttC>ttT	p.F153F	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000299626.5_Silent_p.F153F	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	153					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TTAATAACCCGAAGTTCCACA	0.313000													39	45					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702046	30702046	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:30702046G>T	ENST00000256246.2	-	1	4562	c.4488C>A	c.(4486-4488)atC>atA	p.I1496I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1496								p.I1496I(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTCTTCTGAGATCTGATTCT	0.333000													29	51					1.50538e-07	1.63707e-07	1	1	0
TPP2	7174	broad.mit.edu	37	13	103279451	103279451	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:103279451C>A	ENST00000376052.3	+	7	890	c.874C>A	c.(874-876)Ctt>Att	p.L292I	TPP2_ENST00000376065.4_Missense_Mutation_p.L292I			P29144	TPP2_HUMAN	tripeptidyl peptidase II	292					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGCTCAAATTCTTTCCATCAA	0.448000													56	62					2.69953e-25	3.59287e-25	1	1	0
ATP9A	10079	broad.mit.edu	37	20	50230355	50230355	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:50230355G>A	ENST00000338821.5	-	23	2696	c.2432C>T	c.(2431-2433)tCg>tTg	p.S811L	ATP9A_ENST00000311637.5_Missense_Mutation_p.S675L|ATP9A_ENST00000402822.1_Missense_Mutation_p.S690L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	811					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGCAGCCAACGAAGCCTGTTT	0.473000													85	124					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27294682	27294682	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:27294682A>G	ENST00000397501.1	+	21	2193	c.1385A>G	c.(1384-1386)gAc>gGc	p.D462G	PTK2B_ENST00000517339.1_Missense_Mutation_p.D462G|PTK2B_ENST00000346049.5_Missense_Mutation_p.D462G|PTK2B_ENST00000420218.2_Missense_Mutation_p.D462G|PTK2B_ENST00000338238.4_Missense_Mutation_p.D462G|PTK2B_ENST00000544172.1_Missense_Mutation_p.D462G|PTK2B_ENST00000397497.4_Missense_Mutation_p.D208G	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	462	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TGCAAGAAAGACTGCACTCTG	0.532000													74	96					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95182706	95182706	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:95182706T>G	ENST00000027335.3	-	9	1109	c.985A>C	c.(985-987)Aaa>Caa	p.K329Q	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.K329Q	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	329	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCTTTAACTTTTACATGAATT	0.398000													58	59					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28493454	28493454	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:28493454C>T	ENST00000569430.1	-	15	1847	c.1028G>A	c.(1027-1029)cGt>cAt	p.R343H	CLN3_ENST00000357806.7_Missense_Mutation_p.R244H|CLN3_ENST00000360019.2_Missense_Mutation_p.R343H|CLN3_ENST00000535392.1_Missense_Mutation_p.R265H|CLN3_ENST00000568224.1_Missense_Mutation_p.R265H|CLN3_ENST00000357857.9_Missense_Mutation_p.R289H|CLN3_ENST00000355477.5_Missense_Mutation_p.R295H|CLN3_ENST00000333496.9_Missense_Mutation_p.R319H|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000395653.4_Missense_Mutation_p.R243H|CLN3_ENST00000359984.7_Missense_Mutation_p.R343H|CLN3_ENST00000354630.5_Missense_Mutation_p.R326H|CLN3_ENST00000565316.1_Missense_Mutation_p.R326H|CLN3_ENST00000357076.5_Missense_Mutation_p.R233H			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	343					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CCAGGTGAAACGGATGCGACA	0.642000													11	11					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94230397	94230397	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:94230397G>A	ENST00000515393.1	-	11	1795	c.1796C>T	c.(1795-1797)tCc>tTc	p.S599F	MCTP1_ENST00000429576.2_Missense_Mutation_p.S332F|MCTP1_ENST00000505208.1_Missense_Mutation_p.S378F|MCTP1_ENST00000312216.8_Missense_Mutation_p.S378F|MCTP1_ENST00000505078.1_Missense_Mutation_p.S115F	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	599					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)		GTCCTCCAGGGAGTTGACAGA	0.507000													21	16					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77641780	77641780	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:77641780T>C	ENST00000407578.2	-	71	12657	c.12391A>G	c.(12391-12393)Aca>Gca	p.T4131A	MYCBP2_ENST00000544440.2_Missense_Mutation_p.T4093A|MYCBP2_ENST00000357337.6_Missense_Mutation_p.T4093A	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4093					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTACCAGCTGTTCCAGTGATG	0.428000													94	97					0	0	1	0	0
CHRNA10	57053	broad.mit.edu	37	11	3687470	3687470	+	Missense_Mutation	SNP	C	C	T	rs146888913		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:3687470C>T	ENST00000250699.2	-	5	1291	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	CHRNA10_ENST00000534359.1_3'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	407					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	TCGGTGGCTGCGGAAGGTATT	0.662000													74	76					0	0	1	0	0
KANSL2	54934	broad.mit.edu	37	12	49075502	49075502	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:49075502T>G	ENST00000550347.1	-	1	506	c.463A>C	c.(463-465)Aac>Cac	p.N155H	KANSL2_ENST00000553086.1_Intron|KANSL2_ENST00000357861.3_Intron|KANSL2_ENST00000420613.2_Intron			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	0																	CGCGGACAGTTTCCAAAGGAC	0.547000													15	14					0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8671674	8671674	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:8671674A>C	ENST00000299665.2	+	4	495	c.302A>C	c.(301-303)gAc>gCc	p.D101A		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	101	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CCTCTTACTGACAACAAGACG	0.493000													18	26					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540572	133540572	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:133540572G>T	ENST00000409261.1	-	14	4185	c.3812C>A	c.(3811-3813)gCc>gAc	p.A1271D	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1271D|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1271							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCGGGCTTTGGCGCCATTCAT	0.527000													70	78					1.65906e-26	2.22417e-26	1	1	0
RYR2	6262	broad.mit.edu	37	1	237880546	237880546	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:237880546C>A	ENST00000366574.2	+	72	10689	c.10372C>A	c.(10372-10374)Cgg>Agg	p.R3458R	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.R3442R|RYR2_ENST00000360064.6_Silent_p.R3456R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3458					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)			CAAAGGAGATCGGTATTCCAT	0.493000													19	13					1.64113e-05	1.72627e-05	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2090323	2090323	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:2090323G>T	ENST00000262113.4	+	35	4165		c.e35+1		MYOM2_ENST00000520298.1_Intron|MYOM2_ENST00000523438.1_Splice_Site	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2						muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCAGAGAAGAGTAAGTACCTG	0.393000													33	50					9.17885e-22	1.19102e-21	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43896143	43896143	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:43896143C>A	ENST00000389420.3	-	4	678	c.679G>T	c.(679-681)Gta>Tta	p.V227L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.V227L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	227						proteinaceous extracellular matrix	zinc ion binding	p.E223_N226del(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCTTTCATTACATTAAGATCT	0.318000													51	56					2.55665e-31	3.51226e-31	1	1	0
KCNA4	3739	broad.mit.edu	37	11	30034199	30034199	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:30034199C>A	ENST00000328224.6	-	2	1260	c.27G>T	c.(25-27)gaG>gaT	p.E9D		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	9						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACCCTGAGCTCTCCGCACTCA	0.557000													63	65					6.20203e-27	8.35239e-27	1	1	0
MYH4	4622	broad.mit.edu	37	17	10363275	10363275	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:10363275G>T	ENST00000255381.2	-	14	1520	c.1410C>A	c.(1408-1410)atC>atA	p.I470I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	470	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						TCACATCAAAGATCTCAAAGC	0.438000													79	94					3.27973e-32	4.52192e-32	1	1	0
DIEXF	27042	broad.mit.edu	37	1	210017023	210017023	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:210017023G>A	ENST00000491415.2	+	11	2066	c.2009G>A	c.(2008-2010)cGc>cAc	p.R670H		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	670					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TTCACAGAGCGCTTCCATTTC	0.493000													29	30					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37580883	37580883	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:37580883T>G	ENST00000300651.6	-	11	1071	c.848A>C	c.(847-849)aAa>aCa	p.K283T	MED1_ENST00000394287.3_Missense_Mutation_p.K283T	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	283	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AACTTACCATTTATTGTCAAC	0.363000										HNSCC(31;0.082)			30	33					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104115861	104115861	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:104115861G>T	ENST00000361355.4	+	5	1108	c.492G>T	c.(490-492)gaG>gaT	p.E164D	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	164					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GAGATATCGAGAACTACAATG	0.373000													165	209					8.28187e-80	1.19274e-79	1	1	0
ZDHHC23	254887	broad.mit.edu	37	3	113672612	113672612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:113672612G>A	ENST00000330212.3	+	3	526	c.227G>A	c.(226-228)cGc>cAc	p.R76H	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.R70H	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	76						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						ATTTCTGATCGCCTCCGAATT	0.448000													58	58					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110581904	110581904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:110581904C>T	ENST00000369795.3	+	4	458	c.436C>T	c.(436-438)Cga>Tga	p.R146*	STRIP1_ENST00000369796.1_Nonsense_Mutation_p.R51*|STRIP1_ENST00000369794.2_Nonsense_Mutation_p.R146*	NM_033088.3	NP_149079.2			striatin interacting protein 1																		CAAGGTGGCTCGAGCAATTCT	0.572000													17	23					0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834247	178834247	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:178834247T>G	ENST00000234816.2	-	3	1112	c.665A>C	c.(664-666)cAt>cCt	p.H222P	RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.H222P	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	222						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GTTAGGAATATGTTGTGGCAC	0.483000													49	47					0	0	1	0	0
MIR526B	574468	broad.mit.edu	37	19	54197652	54197652	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:54197652C>T	ENST00000384848.1	+	0	6					NR_030190.1																						AGATGTCAGGCTGTGACCCTC	0.398000													14	35					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779382	31779382	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:31779382G>A	ENST00000375654.4	-	2	557	c.368C>T	c.(367-369)tCg>tTg	p.S123L	HSPA1L_ENST00000417199.3_Missense_Mutation_p.S123L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	123					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CAATACCATCGAAGAGATTTC	0.453000													25	31					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112356979	112356979	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:112356979C>A	ENST00000206423.3	-	2	2727	c.1774G>T	c.(1774-1776)Gaa>Taa	p.E592*	CCDC80_ENST00000439685.2_Nonsense_Mutation_p.E592*	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	592	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CCATCCTGTTCTGTTTTACCT	0.448000													71	84					8.27458e-37	1.15519e-36	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761772	55761772	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:55761772G>A	ENST00000278409.1	-	1	329	c.330C>T	c.(328-330)acC>acT	p.T110T		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGATGCATTCGGTTGTCGCCA	0.468000													54	74					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37276967	37276967	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:37276967C>A	ENST00000233099.5	-	18	2620	c.2525G>T	c.(2524-2526)aGt>aTt	p.S842I	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S842I	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	842							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCCTAAAGTACTTTTGTTTTC	0.378000													16	15					2.32078e-09	2.58765e-09	1	1	0
COL4A3	1285	broad.mit.edu	37	2	228113210	228113210	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:228113210G>A	ENST00000396578.3	+	9	682	c.520G>A	c.(520-522)Ggg>Agg	p.G174R	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	174	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.G174R(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGCGACCCCGGGTTGCCAGG	0.433000													26	5					0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5655897	5655897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:5655897G>T	ENST00000354852.5	+	10	1791	c.1618G>T	c.(1618-1620)Gaa>Taa	p.E540*	HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Nonsense_Mutation_p.E186*|TRIM34_ENST00000514226.1_Nonsense_Mutation_p.E186*|TRIM34_ENST00000429814.2_Nonsense_Mutation_p.E186*	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		540						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GATACAAACAGAATTTGATCA	0.423000													22	21					1.55795e-14	1.85956e-14	1	1	0
FAM84A	151354	broad.mit.edu	37	2	14774214	14774214	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:14774214C>T	ENST00000295092.2	+	2	399	c.111C>T	c.(109-111)ttC>ttT	p.F37F	FAM84A_ENST00000331243.4_Silent_p.F37F	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	37								p.F37L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CCTACTTCTTCTCGGATGATG	0.647000													26	28					0	0	1	0	0
LRRC8B	23507	broad.mit.edu	37	1	90049614	90049614	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:90049614C>T	ENST00000330947.2	+	5	1765	c.1405C>T	c.(1405-1407)Cgt>Tgt	p.R469C	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.R469C|LRRC8B_ENST00000439853.1_Missense_Mutation_p.R469C	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	469			R -> H (in dbSNP:rs3795832).			integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CAAGGAGCTTCGTGTGTACCA	0.463000													29	33					0	0	1	0	0
BAMBI	25805	broad.mit.edu	37	10	28971077	28971077	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:28971077G>A	ENST00000375533.3	+	3	1086	c.530G>A	c.(529-531)cGa>cAa	p.R177Q		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	177					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						AGGATGCTTCGAAGTGAAAAT	0.512000													20	25					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6737711	6737711	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:6737711G>A	ENST00000230859.6	+	2	184	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	19					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	p.E19K(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAACGGATCGAAACTGTGGT	0.433000													13	34					0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55523874	55523874	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:55523874A>C	ENST00000305377.5	+	1	410	c.322A>C	c.(322-324)Atc>Ctc	p.I108L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CAAGGCTATGATCAACTTCTG	0.443000													64	66					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635145	33635145	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:33635145G>A	ENST00000380099.3	+	4	1937	c.1929G>A	c.(1927-1929)ccG>ccA	p.P643P	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	643	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.P643P(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTATGGCCCCGAACCAAGGAC	0.627000													36	49					0	0	1	0	0
LONRF1	91694	broad.mit.edu	37	8	12583269	12583269	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:12583269G>A	ENST00000398246.3	-	11	2199	c.2130C>T	c.(2128-2130)ttC>ttT	p.F710F	LONRF1_ENST00000533751.1_Silent_p.F353F|LONRF1_ENST00000525024.1_Silent_p.F136F	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	710	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GCATTGATCCGAAATGCTGAA	0.398000													25	39					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207789924	207789924	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:207789924C>A	ENST00000367049.4	+	41	6666	c.6666C>A	c.(6664-6666)atC>atA	p.I2222I	CR1_ENST00000367051.1_Silent_p.I1772I|CR1_ENST00000367053.1_Silent_p.I1772I|CR1_ENST00000367052.1_Silent_p.I1772I|CR1_ENST00000400960.2_Silent_p.I1772I	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1772					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTCTAGAAATCTTTTGTCCAA	0.373000													35	56					1.36161e-19	1.73429e-19	1	1	0
PZP	5858	broad.mit.edu	37	12	9356466	9356466	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:9356466C>T	ENST00000261336.2	-	2	193	c.165G>A	c.(163-165)gaG>gaA	p.E55E		NM_002864.2	NP_002855.2			pregnancy-zone protein											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						CAGTCACTGTCTCATTCAGGT	0.542000													47	61					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345219	20345219	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:20345219T>G	ENST00000298642.2	+	1	829	c.793T>G	c.(793-795)Ttt>Gtt	p.F265V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTAAGCAGCTTTCTCACAGA	0.398000													30	97					0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12739037	12739037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:12739037C>T	ENST00000343325.4	+	4	856	c.694C>T	c.(694-696)Cga>Tga	p.R232*	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Nonsense_Mutation_p.R200*|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Nonsense_Mutation_p.R123*	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CAGTTCTATTCGAGTACACGA	0.423000													38	36					0	0	1	0	0
TMEM55A	55529	broad.mit.edu	37	8	92032465	92032465	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:92032465C>A	ENST00000285419.3	-	3	596	c.282G>T	c.(280-282)aaG>aaT	p.K94N		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	94						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TAACATATTTCTTGCCTGTTG	0.378000													31	45					2.46105e-21	3.181e-21	1	1	0
PPP2R3A	5523	broad.mit.edu	37	3	135759757	135759757	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:135759757G>T	ENST00000264977.3	+	4	2936	c.2319G>T	c.(2317-2319)gaG>gaT	p.E773D	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E152D|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E37D|PPP2R3A_ENST00000492624.2_Missense_Mutation_p.E37D	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	773	EF-hand 1.				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGGGGGAGAGAAGACAGGAT	0.483000													11	20					2.80697e-09	3.12127e-09	1	1	0
SEC23IP	11196	broad.mit.edu	37	10	121658029	121658029	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:121658029A>G	ENST00000369075.3	+	2	326	c.254A>G	c.(253-255)cAg>cGg	p.Q85R	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	85	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TACTTCTCTCAGGTATCAAGC	0.468000													54	69					0	0	1	0	0
ZFP30	22835	broad.mit.edu	37	19	38126256	38126256	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:38126256C>T	ENST00000351218.2	-	6	1743	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.E396K|ZFP30_ENST00000514101.2_Missense_Mutation_p.E396K	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAATAAGTTCTGAGTAACGA	0.398000													26	36					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89985069	89985069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:89985069G>A	ENST00000428670.3	-	21	3811	c.3355C>T	c.(3355-3357)Cga>Tga	p.R1119*	RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000359142.3_Missense_Mutation_p.S1170L|ATP2B1_ENST00000348959.3_Nonsense_Mutation_p.R1083*|ATP2B1_ENST00000261173.2_Nonsense_Mutation_p.R1119*|ATP2B1_ENST00000393164.2_Nonsense_Mutation_p.R862*			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1157	Calmodulin-binding subdomain B.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TTCACCACTCGAATCTGTAAA	0.328000													28	27					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112506487	112506487	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:112506487C>T	ENST00000230538.7	-	9	1426	c.1029G>A	c.(1027-1029)gaG>gaA	p.E343E	LAMA4_ENST00000389463.4_Silent_p.E336E|LAMA4_ENST00000424408.2_Silent_p.E336E|LAMA4_ENST00000522006.1_Silent_p.E336E	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	343	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCATCGTGTTCTCAGCATTGT	0.383000													69	97					0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36831575	36831575	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:36831575G>A	ENST00000270001.7	-	5	1268	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R385C(2)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CTCTGATGGCGAACTAGTTGT	0.388000													34	38					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101201227	101201227	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:101201227G>T	ENST00000341267.4	+	5	1388	c.1146G>T	c.(1144-1146)gaG>gaT	p.E382D	DLK1_ENST00000331224.6_Missense_Mutation_p.E309D	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	382					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GCGACGAGGAGATCTAAGCAG	0.547000													53	57					1.13205e-32	1.56323e-32	1	1	0
FILIP1	27145	broad.mit.edu	37	6	76023752	76023752	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:76023752C>T	ENST00000393004.2	-	5	2017	c.1796G>A	c.(1795-1797)aGa>aAa	p.R599K	FILIP1_ENST00000237172.7_Missense_Mutation_p.R599K|FILIP1_ENST00000370020.1_Missense_Mutation_p.R500K|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	599										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACCATCAAGTCTCTTCTTTAG	0.383000													61	77					0	0	1	0	0
MT1A	4489	broad.mit.edu	37	16	56672672	56672672	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:56672672G>A	ENST00000290705.8	+	1	95	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A	8	Beta.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)	3						CTGCTCCTGCGCCACTGGTAA	0.537000													57	88					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178568	65178568	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:65178568G>A	ENST00000310045.7	-	2	4781	c.3308C>T	c.(3307-3309)tCa>tTa	p.S1103L	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1093						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CACTGCATTTGATTTGGATTT	0.388000													11	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458949	179458949	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179458949C>T	ENST00000589042.1	-	297	58395	c.58171G>A	c.(58171-58173)Gac>Aac	p.D19391N	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10326N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10518N|TTN_ENST00000359218.5_Missense_Mutation_p.D10451N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D16823N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D17750N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17750	Fibronectin type-III 40.						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)			TCTCTGAAGTCGAGGTGAAGC	0.403000													27	30					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134898755	134898755	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:134898755G>A	ENST00000398015.3	+	10	2183	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	EPHB1_ENST00000493838.1_Missense_Mutation_p.E166K	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	605						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGATCCCAACGAAGCTGTCCG	0.478000													65	75					0	0	1	0	0
RHOH	399	broad.mit.edu	37	4	40245073	40245073	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:40245073C>T	ENST00000381799.5	+	3	791	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	RHOH_ENST00000505618.1_Missense_Mutation_p.R23C	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H						negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TCTGTTGGTGCGCTTCACCTC	0.577000													36	48					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106864367	106864367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:106864367G>T	ENST00000286398.7	+	8	1051	c.763G>T	c.(763-765)Gaa>Taa	p.E255*	SMC2_ENST00000374793.3_Nonsense_Mutation_p.E255*|SMC2_ENST00000303219.8_Nonsense_Mutation_p.E255*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.E255*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	255					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAATTAAAAGAAATGCAAGA	0.294000													33	41					6.00712e-18	7.50257e-18	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151884345	151884345	+	Splice_Site	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:151884345A>G	ENST00000355193.2	-	33	5227		c.e33+1		KMT2C_ENST00000262189.6_Splice_Site					lysine (K)-specific methyltransferase 2C																		TTCATGGCTTACCAGGGAATT	0.353000													34	39					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183913434	183913434	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:183913434C>A	ENST00000361927.4	-	10	1664	c.1293G>T	c.(1291-1293)aaG>aaT	p.K431N	COLGALT2_ENST00000367521.1_Missense_Mutation_p.K39N|COLGALT2_ENST00000367520.3_Missense_Mutation_p.K168N|COLGALT2_ENST00000546159.1_Missense_Mutation_p.K431N	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		TTACAAGAGTCTTCTCTAGCT	0.373000													34	40					2.42023e-17	3.00026e-17	1	1	0
XRCC6BP1	91419	broad.mit.edu	37	12	58340809	58340809	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:58340809G>A	ENST00000300145.3	+	3	390	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	89					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						CTTTTCTTGCGAAGACTGTAA	0.423000													45	49					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118414	194118414	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:194118414G>A	ENST00000401815.1	-	1	669	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	GP5_ENST00000323007.3_Silent_p.L200L			P40197	GPV_HUMAN	glycoprotein V (platelet)	200					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)		GAGTGGAGCAGAAGTCTCTCG	0.557000													95	87					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97679429	97679429	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:97679429C>T	ENST00000275053.4	-	13	1667	c.1402G>A	c.(1402-1404)Gat>Aat	p.D468N	MMS22L_ENST00000369251.2_Missense_Mutation_p.D428N	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	468					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCTTGTTTATCGCAACAGCAA	0.368000													24	34					0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86199580	86199580	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:86199580G>T	ENST00000361228.3	-	2	576	c.208C>A	c.(208-210)Ctt>Att	p.L70I		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	70	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCCCCAGAAGAAATCGTTTC	0.493000													48	58					2.43139e-17	3.01339e-17	1	1	0
ASUN	55726	broad.mit.edu	37	12	27077380	27077380	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:27077380G>A	ENST00000261191.7	-	7	1248	c.712C>T	c.(712-714)Cgt>Tgt	p.R238C	ASUN_ENST00000539625.1_Missense_Mutation_p.R137C	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	238					cell division|mitosis|regulation of mitotic cell cycle		protein binding										CGTCCTGCACGAACACTATGA	0.353000													41	47					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55127539	55127539	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:55127539G>T	ENST00000257290.5	+	3	658	c.327G>T	c.(325-327)gaG>gaT	p.E109D	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Missense_Mutation_p.E109D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	109	Ig-like C2-type 1.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGACAGAAGAGAATGAGCTTG	0.507000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			97	130					1.66976e-61	2.3957e-61	1	1	0
MYO19	80179	broad.mit.edu	37	17	34859029	34859029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:34859029C>T	ENST00000431794.3	-	21	2510	c.1988G>A	c.(1987-1989)cGa>cAa	p.R663Q	MYO19_ENST00000268852.9_Missense_Mutation_p.R463Q	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	663	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TACAAAGTTTCGGTGAGAGAC	0.488000													60	91					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801897	185801897	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:185801897A>G	ENST00000302277.6	+	4	2368	c.1774A>G	c.(1774-1776)Aaa>Gaa	p.K592E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	592						intracellular	zinc ion binding	p.S593fs*29(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTGGTTCCATAAAAGTAGAAG	0.308000													44	52					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911509	88911509	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:88911509G>A	ENST00000263321.5	+	1	890	c.388G>A	c.(388-390)Gag>Aag	p.E130K	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	130					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GAGTGCCCCAGAGAAGGACAA	0.453000													53	82					0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245238	46245238	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:46245238G>A	ENST00000296140.3	-	2	692	c.567C>T	c.(565-567)caC>caT	p.H189H	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	189					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTAGGCTTTCGTGAGGAAAGT	0.493000													36	56					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49081067	49081067	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:49081067C>A	ENST00000380950.2	-	9	1291	c.1104G>T	c.(1102-1104)aaG>aaT	p.K368N	CEP152_ENST00000399334.3_Missense_Mutation_p.K368N|CEP152_ENST00000325747.5_Missense_Mutation_p.K275N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	368					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTTCGTACTTCTTTGTGAGGC	0.433000													76	91					9.04243e-43	1.27609e-42	1	1	0
ZNF624	57547	broad.mit.edu	37	17	16527313	16527313	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:16527313C>A	ENST00000311331.7	-	6	978	c.887G>T	c.(886-888)aGa>aTa	p.R296I		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGTATGAGTTCTTTGATGTTG	0.348000													40	42					1.47244e-24	1.95143e-24	1	1	0
PDE1A	5136	broad.mit.edu	37	2	183094855	183094855	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:183094855T>C	ENST00000435564.1	-	6	801	c.601A>G	c.(601-603)Atc>Gtc	p.I201V	PDE1A_ENST00000410103.1_Missense_Mutation_p.I201V|PDE1A_ENST00000346717.4_Missense_Mutation_p.I167V|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000358139.2_Missense_Mutation_p.I201V|PDE1A_ENST00000456212.1_Missense_Mutation_p.I201V|PDE1A_ENST00000536095.1_Missense_Mutation_p.I97V|PDE1A_ENST00000331935.6_Missense_Mutation_p.I201V|PDE1A_ENST00000351439.5_Missense_Mutation_p.I185V|PDE1A_ENST00000409365.1_Missense_Mutation_p.I185V	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	201	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GCAAAGGTGATTAGGCAAGAA	0.343000													32	22					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754550	76754550	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:76754550C>A	ENST00000536229.3	+	1	2869	c.2160C>A	c.(2158-2160)gtC>gtA	p.V720V	SALL3_ENST00000537592.2_Silent_p.V853V|SALL3_ENST00000575389.2_Silent_p.V853V			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCGACTCGGTCATGAGCTGCC	0.667000													51	57					6.77423e-14	8.02286e-14	1	1	0
EFHB	151651	broad.mit.edu	37	3	19940961	19940961	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:19940961C>T	ENST00000295824.9	-	7	1626	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	EFHB_ENST00000344838.4_Missense_Mutation_p.E359K|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	489					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TGAAACTTTTCTTTGAAATCA	0.299000													30	54					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410001	105410001	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:105410001A>G	ENST00000333244.5	-	7	11906	c.11787T>C	c.(11785-11787)gtT>gtC	p.V3929V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3929						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)			TGGGCAGAGAAACCTCCACAT	0.622000													127	164					0	0	1	0	0
JADE1	79960	broad.mit.edu	37	4	129782878	129782878	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:129782878G>A	ENST00000226319.6	+	9	1281	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	PHF17_ENST00000512960.1_Missense_Mutation_p.R334H|PHF17_ENST00000413543.2_Missense_Mutation_p.R334H|PHF17_ENST00000511647.1_Missense_Mutation_p.R334H|PHF17_ENST00000452328.2_Missense_Mutation_p.R322H	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		334					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AAGAACTGCCGCACAGCCTTC	0.488000													52	67					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061718	9061718	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9061718G>T	ENST00000397910.4	-	3	25931	c.25728C>A	c.(25726-25728)ttC>ttA	p.F8576L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8578	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						GTAATGTGGAGAAAAAAGAAG	0.537000													25	35					3.01185e-09	3.34629e-09	1	1	0
SELPLG	6404	broad.mit.edu	37	12	109017215	109017215	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:109017215G>T	ENST00000388962.3	-	3	998	c.839C>A	c.(838-840)tCt>tAt	p.S280Y	SELPLG_ENST00000228463.6_Missense_Mutation_p.S306Y|SELPLG_ENST00000550948.1_Missense_Mutation_p.S290Y	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	290					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GTGAGTAACAGAGGACACAGA	0.567000													13	67					1.5842e-08	1.74448e-08	1	1	0
SPO11	23626	broad.mit.edu	37	20	55906944	55906944	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:55906944G>A	ENST00000371263.3	+	2	296	c.187G>A	c.(187-189)Gca>Aca	p.A63T	SPO11_ENST00000371260.4_Intron|SPO11_ENST00000345868.4_Intron	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	63					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			CACAAGCTTGGCAAGAAATGA	0.323000								Editing and processing nucleases					77	107					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548635	20548635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:20548635C>T	ENST00000329697.6	-	14	1847	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	ACSM2B_ENST00000565322.1_Missense_Mutation_p.R481Q|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R560Q|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R560Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	560					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AAGTTTGGTTCGTTGAATTTT	0.473000													97	125					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219368	155219368	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:155219368T>C	ENST00000357232.4	-	18	4732	c.4733A>G	c.(4732-4734)gAc>gGc	p.D1578G		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGATCATTGTCATTAACATC	0.438000													42	58					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2890656	2890656	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:2890656G>T	ENST00000254528.3	+	4	690	c.531G>T	c.(529-531)caG>caT	p.Q177H		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	177					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AGGGGCCTCAGGAACTTCAGG	0.507000													36	56					4.14481e-20	5.3097e-20	1	1	0
ARHGAP5	394	broad.mit.edu	37	14	32562225	32562225	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:32562225G>A	ENST00000345122.3	+	2	2665	c.2350G>A	c.(2350-2352)Gcc>Acc	p.A784T	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.A784T|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.A784T|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.A784T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	784					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGTCATGTGCGCCATGTGTGG	0.423000													45	70					0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196534689	196534689	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:196534689C>T	ENST00000327134.3	+	7	935	c.613C>T	c.(613-615)Cca>Tca	p.P205S		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	205					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TGTTCCTGCACCAGTTGGTGA	0.388000													34	37					0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135554724	135554724	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:135554724T>G	ENST00000372146.4	+	2	2282	c.1718T>G	c.(1717-1719)tTt>tGt	p.F573C		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	573					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GTCACCTATTTTTGGCGTTTT	0.378000													77	115					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135272359	135272359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:135272359C>T	ENST00000285968.6	+	9	1281	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	NUP205_ENST00000440390.2_Nonsense_Mutation_p.R213*	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	419					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGAAGATGCTCGAATGATTCA	0.338000													25	28					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79611421	79611421	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:79611421C>A	ENST00000261205.4	+	4	779	c.122C>A	c.(121-123)tCt>tAt	p.S41Y	SYT1_ENST00000457153.2_Missense_Mutation_p.S41Y|SYT1_ENST00000393240.3_Missense_Mutation_p.S41Y|SYT1_ENST00000552744.1_Missense_Mutation_p.S41Y	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	41					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GATGCATTTTCTAAGCTGAAG	0.458000													23	37					1.22574e-08	1.35143e-08	1	1	0
MYH10	4628	broad.mit.edu	37	17	8422097	8422097	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:8422097C>A	ENST00000360416.3	-	21	2494	c.2356G>T	c.(2356-2358)Gaa>Taa	p.E786*	MYH10_ENST00000379980.4_Nonsense_Mutation_p.E771*|MYH10_ENST00000269243.4_Nonsense_Mutation_p.E755*|MYH10_ENST00000396239.1_Nonsense_Mutation_p.E776*	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	755	IQ.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGGTCCAATTCTAAAGCCCGG	0.343000													22	42					2.39556e-15	2.88909e-15	1	1	0
ZNF407	55628	broad.mit.edu	37	18	72343146	72343146	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:72343146G>T	ENST00000299687.5	+	1	171	c.171G>T	c.(169-171)tcG>tcT	p.S57S	ZNF407_ENST00000309902.6_Silent_p.S57S|ZNF407_ENST00000582337.1_Silent_p.S57S|ZNF407_ENST00000577538.1_Silent_p.S57S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S57S(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAGAATCATCGAACTCTGATA	0.413000													40	31					1.96642e-18	2.46925e-18	1	1	0
MBD5	55777	broad.mit.edu	37	2	149226871	149226871	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:149226871T>G	ENST00000407073.1	+	9	2356	c.1359T>G	c.(1357-1359)atT>atG	p.I453M	MBD5_ENST00000404807.1_Missense_Mutation_p.I453M	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	453						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTGGAAGGATTGAGGCATCGC	0.502000													31	26					0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98082454	98082454	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:98082454T>G	ENST00000419175.1	+	5	889	c.719T>G	c.(718-720)gTg>gGg	p.V240G	DNTT_ENST00000371174.2_Missense_Mutation_p.V240G	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	240	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GTTAAAGCTGTGTTAAATGAT	0.279000													43	28					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43428855	43428855	+	RNA	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:43428855T>G	ENST00000406070.2	-	0	1461					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				cccatgaaatttacattgagt	0.423000													17	17					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30694786	30694786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:30694786G>T	ENST00000256246.2	-	3	7939	c.7865C>A	c.(7864-7866)tCa>tAa	p.S2622*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2622										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TAGGACTTTTGAATTTTTGTC	0.383000													39	32					1.07637e-12	1.25388e-12	1	1	0
CRB1	23418	broad.mit.edu	37	1	197313591	197313591	+	Missense_Mutation	SNP	T	T	C	rs140214293		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:197313591T>C	ENST00000367400.3	+	3	968	c.833T>C	c.(832-834)gTg>gCg	p.V278A	CRB1_ENST00000538660.1_Missense_Mutation_p.V278A|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.V209A|CRB1_ENST00000543483.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	278	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGGCTGTGTGTGGATGGAGAA	0.488000													58	75					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53568833	53568833	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:53568833C>A	ENST00000025008.5	-	15	4079	c.3556G>T	c.(3556-3558)Gaa>Taa	p.E1186*	RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.E1186*|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.E1186*|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1186					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCACTCAATTCTGAATCCAAT	0.303000													29	38					3.73988e-18	4.68078e-18	1	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72137973	72137973	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:72137973C>T	ENST00000555818.1	+	8	2741	c.2393C>T	c.(2392-2394)tCg>tTg	p.S798L	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S798L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S798L|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S273L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	798	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCTCATAAATCGGAGAAGTTT	0.493000													35	50					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103499166	103499166	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:103499166T>G	ENST00000372588.4	-	2	258	c.175A>C	c.(175-177)Aac>Cac	p.N59H		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	59					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CCAACGTTGTTTTCCGCTTCT	0.617000													139	10					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63987907	63987907	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:63987907G>A	ENST00000324472.4	-	16	1723	c.1540C>T	c.(1540-1542)Cgt>Tgt	p.R514C		NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	514					multicellular organismal development|spermatid development	integral to membrane		p.R514C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GAAATATCACGAACAGTCTGT	0.259000													12	15					0	0	1	0	0
PPP1R42	286187	broad.mit.edu	37	8	67929976	67929976	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:67929976G>A	ENST00000522909.1	-	2	191	c.7C>T	c.(7-9)Cga>Tga	p.R3*	PPP1R42_ENST00000324682.5_Nonsense_Mutation_p.R3*|PPP1R42_ENST00000517834.1_5'UTR			Q7Z4L9	LRC67_HUMAN	protein phosphatase 1, regulatory subunit 42	3																	AAGGTCAGTCGAACCATAATT	0.338000													10	11					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46726980	46726980	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:46726980A>G	ENST00000371975.4	+	8	1488	c.814A>G	c.(814-816)Atc>Gtc	p.I272V	RAD54L_ENST00000442598.1_Missense_Mutation_p.I272V|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	272	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TCCCATCCTCATCATTTCCTA	0.448000								Direct reversal of damage;Homologous recombination					9	17					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20999312	20999312	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:20999312G>A	ENST00000261383.3	-	45	6676	c.6677C>T	c.(6676-6678)tCg>tTg	p.S2226L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2226	AAA 3 (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)		GTCAACAATCGAACTGAAAAT	0.428000													67	5					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150933439	150933439	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:150933439C>T	ENST00000271640.5	+	16	3091	c.2901C>T	c.(2899-2901)ggC>ggT	p.G967G	SETDB1_ENST00000368969.4_Silent_p.G967G	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	967	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTAGGTGGCTGCAATCCAC	0.527000													54	59					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43798219	43798219	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:43798219A>C	ENST00000261488.6	-	16	2347	c.1770T>G	c.(1768-1770)ctT>ctG	p.L590L	ENOX1_ENST00000412891.1_Silent_p.L590L	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	590					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TGTATGACCAAAGATATTCTA	0.393000													16	20					0	0	1	0	0
NCALD	83988	broad.mit.edu	37	8	102731642	102731642	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:102731642G>A	ENST00000395923.1	-	4	675	c.216C>T	c.(214-216)ttC>ttT	p.F72F	NCALD_ENST00000522951.1_Silent_p.F72F|NCALD_ENST00000519508.2_Silent_p.F72F|NCALD_ENST00000220931.6_Silent_p.F72F|NCALD_ENST00000521599.1_Silent_p.F72F|NCALD_ENST00000311028.3_Silent_p.F72F	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	72	EF-hand 2.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CATTTGCATCGAAGGTGCGGA	0.443000													74	112					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192480	66192480	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:66192480G>T	ENST00000311034.2	+	7	2295	c.2119G>T	c.(2119-2121)Gag>Tag	p.E707*		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	707				E -> K (in Ref. 2; BAC04271).	transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GTTCCTGGAAGAGACGCCCGT	0.617000													54	69					3.19069e-20	4.09037e-20	1	1	0
ZMYM1	79830	broad.mit.edu	37	1	35579297	35579297	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:35579297C>T	ENST00000373330.1	+	11	2040	c.1866C>T	c.(1864-1866)atC>atT	p.I622I	ZMYM1_ENST00000359858.4_Silent_p.I622I|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	622						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGATATTATCGAAATAATAA	0.318000													23	38					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017372	93017372	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:93017372C>T	ENST00000523629.1	-	6	1166	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E249K|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E238K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E201K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	238					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E238K(1)|p.E201K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCCCGTTTTCGTTCACATCG	0.542000													56	56					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39799722	39799722	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:39799722C>A	ENST00000564288.1	+	37	8239	c.7462C>A	c.(7462-7464)Ctt>Att	p.L2488I	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.L2525I|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.L2493I|MACF1_ENST00000289893.4_Missense_Mutation_p.L928I|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2493					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGACAGAGGTCTTTTGGAGAG	0.408000													94	78					6.79372e-55	9.70817e-55	1	1	0
ADAM2	2515	broad.mit.edu	37	8	39603995	39603995	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:39603995C>T	ENST00000265708.4	-	19	2273	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N	ADAM2_ENST00000347580.4_Missense_Mutation_p.D705N|ADAM2_ENST00000521880.1_Missense_Mutation_p.D661N|ADAM2_ENST00000379853.2_Missense_Mutation_p.D568N	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	724					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATATACTCATCGCTTGAATAG	0.269000													20	32					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862957	5862957	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:5862957G>A	ENST00000329322.5	-	1	170	c.171C>T	c.(169-171)ctC>ctT	p.L57L	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.L61L	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCTCATGGAGACTCTGCT	0.463000													51	67					0	0	1	0	0
STARD10	10809	broad.mit.edu	37	11	72470355	72470355	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:72470355C>A	ENST00000334805.6	-	3	1198	c.279G>T	c.(277-279)aaG>aaT	p.K93N	STARD10_ENST00000543304.1_Missense_Mutation_p.K93N|STARD10_ENST00000545082.1_Missense_Mutation_p.K64N|STARD10_ENST00000538536.1_Missense_Mutation_p.K47N|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000538437.1_5'UTR	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	93	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			TGTCCCATTTCTTGCGGTACT	0.532000													26	42					9.86323e-18	1.22813e-17	1	1	0
RSPO2	340419	broad.mit.edu	37	8	108913375	108913375	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:108913375C>A	ENST00000276659.5	-	6	1280	c.660G>T	c.(658-660)aaG>aaT	p.K220N	RSPO2_ENST00000517781.1_Missense_Mutation_p.K156N|RSPO2_ENST00000378439.2_Missense_Mutation_p.K156N|RSPO2_ENST00000517939.1_Missense_Mutation_p.K153N	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	220					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			Gcttccttttctttttcttgt	0.438000													20	25					2.4624e-09	2.74096e-09	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20721180	20721180	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:20721180G>A	ENST00000404938.2	+	15	2412	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	ABCB5_ENST00000258738.6_Missense_Mutation_p.R142Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	142	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.R142Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTACTATTCGAAGTGCAGAT	0.403000													30	36					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167825607	167825607	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:167825607A>C	ENST00000367848.1	-	17	2188	c.1691T>G	c.(1690-1692)tTt>tGt	p.F564C	ADCY10_ENST00000367851.4_Missense_Mutation_p.F656C|ADCY10_ENST00000545172.1_Missense_Mutation_p.F503C			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	656					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTTCTCCATAAATCTCCAGGA	0.433000													116	119					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33586109	33586109	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:33586109G>T	ENST00000262873.7	+	31	3977	c.3885G>T	c.(3883-3885)gaG>gaT	p.E1295D		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1253						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCAGTGCAGAGAAGCTGTGCC	0.587000													47	48					2.68985e-26	3.60155e-26	1	1	0
NEDD9	4739	broad.mit.edu	37	6	11185845	11185845	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:11185845C>T	ENST00000379446.5	-	7	2221	c.2055G>A	c.(2053-2055)tcG>tcA	p.S685S	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Silent_p.S685S	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	685					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCTTCCACTTCGAGATGTCAT	0.512000													28	31					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086857	9086857	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9086857C>T	ENST00000397910.4	-	1	5161	c.4958G>A	c.(4957-4959)gGa>gAa	p.G1653E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1653	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						GGAGGATGTTCCTATGGGAAG	0.512000													44	49					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28884884	28884884	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:28884884G>A	ENST00000322610.8	+	11	2453	c.2014G>A	c.(2014-2016)Gca>Aca	p.A672T	SH2B1_ENST00000359285.5_3'UTR|SH2B1_ENST00000563674.1_3'UTR|SH2B1_ENST00000395532.4_3'UTR|SH2B1_ENST00000545570.1_3'UTR|SH2B1_ENST00000538342.1_3'UTR|SH2B1_ENST00000337120.5_3'UTR			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	672					blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						AGCAGCAGCCGCAGCAGCCAA	0.652000													11	9					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3917765	3917765	+	Silent	SNP	G	G	A	rs142020410		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:3917765G>A	ENST00000381638.2	-	50	8314	c.8190C>T	c.(8188-8190)ttC>ttT	p.F2730F		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2730							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACTGAGAGTCGAATTTGATTG	0.517000													63	60					0	0	1	0	0
TMIE	259236	broad.mit.edu	37	3	46751145	46751145	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:46751145G>T	ENST00000326431.3	+	4	593	c.438G>T	c.(436-438)aaG>aaT	p.K146N		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	146	Lys-rich.					integral to membrane				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		AGGATGAGAAGAATGAGGCCA	0.542000													30	39					1.2476e-16	1.53624e-16	1	1	0
MMP28	79148	broad.mit.edu	37	17	34105977	34105977	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:34105977A>G	ENST00000250144.8	-	3	623	c.294T>C	c.(292-294)agT>agC	p.S98S		NM_001032278.1	NP_001027449.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 28	98					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGGCCGCATAACTGTTGGTAT	0.562000													31	44					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21069042	21069042	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:21069042A>G	ENST00000381545.3	+	16	2189	c.1970A>G	c.(1969-1971)aAg>aGg	p.K657R	SLCO1B3_ENST00000553473.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.K657R|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	657					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AAAGATACCAAGGCATCGGAC	0.318000													14	17					0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85925447	85925447	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:85925447A>C	ENST00000304195.3	-	9	996	c.790T>G	c.(790-792)Ttg>Gtg	p.L264V	FRMD3_ENST00000376438.1_Missense_Mutation_p.L264V|FRMD3_ENST00000376434.1_Missense_Mutation_p.L70V	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	264	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCAAACTTCAATTTGCAGACA	0.408000													18	241					0	0	1	0	0
CABP1	9478	broad.mit.edu	37	12	121098024	121098024	+	Silent	SNP	C	C	T	rs147505752		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:121098024C>T	ENST00000453000.1	+	3	1031	c.519C>T	c.(517-519)ttC>ttT	p.F173F	CABP1_ENST00000288616.3_Silent_p.F94F|CABP1_ENST00000351200.2_Silent_p.F34F|CABP1_ENST00000316803.3_Silent_p.F237F			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	237						cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	p.F94F(1)|p.F237F(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCAGAGAATTCGACAAGGACA	0.587000													30	52					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47641447	47641447	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:47641447G>T	ENST00000406134.1	+	5	894	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	MSH2_ENST00000233146.2_Nonsense_Mutation_p.E278*|MSH2_ENST00000543555.1_Nonsense_Mutation_p.E212*			P43246	MSH2_HUMAN	mutS homolog 2	278			Missing (in HNPCC1).		B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAAGTTTTTAGAACTCTTATC	0.348000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				25	19					7.88262e-20	1.00835e-19	1	1	0
PCDHGB7	56099	broad.mit.edu	37	5	140799162	140799162	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140799162C>T	ENST00000398594.2	+	1	1736	c.1736C>T	c.(1735-1737)cCg>cTg	p.P579L	PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACAGTGCCGCGGGCCGCG	0.697000													39	39					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100387184	100387184	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:100387184C>A	ENST00000294724.4	+	34	5054	c.4576C>A	c.(4576-4578)Ctt>Att	p.L1526I	AGL_ENST00000370163.3_Missense_Mutation_p.L1526I|AGL_ENST00000361302.3_Missense_Mutation_p.L1510I|AGL_ENST00000361522.4_Missense_Mutation_p.L1509I|AGL_ENST00000370165.3_Missense_Mutation_p.L1526I|AGL_ENST00000370161.2_Missense_Mutation_p.L1510I|AGL_ENST00000361915.3_Missense_Mutation_p.L1526I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1526					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGCTACTATTCTTGAGACACT	0.368000													21	16					4.35082e-09	4.8279e-09	1	1	0
ATRX	546	broad.mit.edu	37	X	76875969	76875969	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:76875969A>G	ENST00000373344.5	-	20	5380	c.5166T>C	c.(5164-5166)caT>caC	p.H1722H	ATRX_ENST00000395603.3_Silent_p.H1684H|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1722	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTTAGAATATGGCCTTCAT	0.294000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						17	2					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32697178	32697178	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:32697178A>T	ENST00000335185.5	-	9	621	c.578T>A	c.(577-579)aTa>aAa	p.I193K	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	193										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GTTTGATTGTATTGCTTCCCG	0.289000													12	14					0	0	1	0	0
LRCH2	57631	broad.mit.edu	37	X	114419093	114419093	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:114419093G>T	ENST00000317135.8	-	3	532	c.502C>A	c.(502-504)Ctt>Att	p.L168I	LRCH2_ENST00000538422.1_Missense_Mutation_p.L168I	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	168										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						GTTGATAAAAGATTTCGGCTG	0.299000													12	0					4.3838e-07	4.73159e-07	1	1	0
PHB	5245	broad.mit.edu	37	17	47486461	47486461	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:47486461G>A	ENST00000300408.3	-	5	525	c.453C>T	c.(451-453)agC>agT	p.S151S	RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Intron|PHB_ENST00000508009.1_5'UTR	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	151					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			TAAGGTCGTCGCTCACCTGCC	0.572000													47	35					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36445359	36445359	+	Splice_Site	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:36445359A>G	ENST00000255448.4	-	5	1152		c.e5+1		DCLK1_ENST00000360631.3_Splice_Site|DCLK1_ENST00000379892.4_Splice_Site	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1						cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTGCTGCTTTACCTGAGCTGG	0.527000													43	66					0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	426201	426201	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:426201G>A	ENST00000431232.2	-	6	1319	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	TMEM8A_ENST00000250930.3_Missense_Mutation_p.R194W	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	387					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGGCGCAGCCGCATCACGGAG	0.667000													30	20					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67337187	67337187	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:67337187C>A	ENST00000371026.3	-	6	861	c.806G>T	c.(805-807)aGa>aTa	p.R269I	WDR78_ENST00000431318.1_Missense_Mutation_p.R15I|WDR78_ENST00000371022.3_Missense_Mutation_p.R269I|WDR78_ENST00000371023.3_Missense_Mutation_p.R269I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	269										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ATTCTTGTTTCTCTGACTGTA	0.308000													34	41					4.65686e-17	5.75685e-17	1	1	0
DFNB59	494513	broad.mit.edu	37	2	179320861	179320861	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179320861C>T	ENST00000409117.3	+	4	888	c.532C>T	c.(532-534)Cga>Tga	p.R178*	DFNB59_ENST00000605419.1_3'UTR|DFNB59_ENST00000375129.4_Nonsense_Mutation_p.R178*	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	178					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TGCTGGAATTCGAGGGGAAGC	0.458000													12	24					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36210440	36210440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:36210440C>T	ENST00000222270.7	+	2	433	c.433C>T	c.(433-435)Cga>Tga	p.R145*	KMT2B_ENST00000341701.1_Nonsense_Mutation_p.R145*|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Nonsense_Mutation_p.R145*	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		CCGATCCCAGCGAGGTGAGTG	0.562000													3	9					0	0	1	0	0
LYPLA1	10434	broad.mit.edu	37	8	54963717	54963717	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:54963717G>T	ENST00000316963.3	-	8	687	c.494C>A	c.(493-495)tCt>tAt	p.S165Y	LYPLA1_ENST00000343231.6_Missense_Mutation_p.S149Y|LYPLA1_ENST00000522007.1_Missense_Mutation_p.L45I	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	165					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			CTGGAGAATAGAAATATCTCT	0.398000													23	34					6.44725e-10	7.24009e-10	1	1	0
SLC25A13	10165	broad.mit.edu	37	7	95818909	95818909	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:95818909A>C	ENST00000416240.2	-	8	1022	c.832T>G	c.(832-834)Tta>Gta	p.L278V	SLC25A13_ENST00000542654.1_Missense_Mutation_p.L170V|SLC25A13_ENST00000265631.5_Missense_Mutation_p.L278V	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	278					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GGCTCATATAAATCTGCTAAC	0.378000													66	69					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37191229	37191229	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:37191229T>G	ENST00000262879.6	+	24	3870	c.3586T>G	c.(3586-3588)Ttg>Gtg	p.L1196V	RALGAPB_ENST00000397038.1_Missense_Mutation_p.L974V|RALGAPB_ENST00000397042.3_Missense_Mutation_p.L1192V|RALGAPB_ENST00000397040.1_Missense_Mutation_p.L1196V			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1196	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTAGAATTTTTGCTTTCCCT	0.403000													20	30					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21607321	21607321	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:21607321G>A	ENST00000392288.2	+	4	1969	c.1860G>A	c.(1858-1860)aaG>aaA	p.K620K	ZNF493_ENST00000355504.4_Silent_p.K492K|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GTATACATAAGAAAATTCATA	0.378000													17	27					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170663	207170663	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:207170663G>T	ENST00000374423.3	+	5	1797	c.1411G>T	c.(1411-1413)Gaa>Taa	p.E471*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	471							nucleic acid binding|zinc ion binding	p.E471*(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GATTGTTAAAGAAATAAGTCT	0.333000													15	3					7.93312e-07	8.52627e-07	1	1	0
ATP6AP1L	92270	broad.mit.edu	37	5	81614039	81614039	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:81614039G>T	ENST00000380167.4	+	10	1920	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	ATP6AP1L_ENST00000439350.1_Nonsense_Mutation_p.E199*|ATP6AP1L_ENST00000508366.1_Intron			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	199					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						AGACACAGCCGAAGAGAAGGA	0.537000													33	42					5.91797e-21	7.63069e-21	1	1	0
MCM8	84515	broad.mit.edu	37	20	5948132	5948132	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:5948132G>A	ENST00000378896.3	+	9	1303	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	MCM8_ENST00000378886.2_Missense_Mutation_p.R309Q|MCM8_ENST00000265187.4_Missense_Mutation_p.R309Q|MCM8_ENST00000378883.1_Missense_Mutation_p.R309Q	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	309					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CGGATTCCACGAACAATAGAA	0.393000													36	44					0	0	1	0	0
MSANTD3	91283	broad.mit.edu	37	9	103212879	103212879	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:103212879G>T	ENST00000395067.2	+	3	730	c.459G>T	c.(457-459)gaG>gaT	p.E153D	MSANTD3_ENST00000489377.1_3'UTR|TMEFF1_ENST00000334943.6_Intron|MSANTD3_ENST00000374885.1_3'UTR|MSANTD3-TMEFF1_ENST00000502978.1_Intron	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3											endometrium(2)|lung(2)	4						GCGATGATGAGAAAGAGTTCA	0.368000													17	20					1.67942e-08	1.84819e-08	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73480205	73480205	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:73480205A>G	ENST00000523207.1	+	2	824	c.236A>G	c.(235-237)gAc>gGc	p.D79G		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	79					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GTGTGCGACGACTATAATCTG	0.522000													39	47					0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158094118	158094118	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:158094118C>T	ENST00000359775.5	+	9	2320	c.1431C>T	c.(1429-1431)gaC>gaT	p.D477D	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Silent_p.D462D			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	477						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		TGCATGAGGACTCTGTGCGCG	0.721000													4	4					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23420484	23420484	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:23420484G>A	ENST00000302291.4	-	4	1072	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	LUZP1_ENST00000314174.5_Silent_p.L91L|LUZP1_ENST00000418342.1_Silent_p.L91L|LUZP1_ENST00000374623.3_Silent_p.L91L			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	91						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCCTTCATCAGACGACACAGA	0.488000													77	95					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40132607	40132607	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:40132607G>A	ENST00000181839.4	+	13	4064	c.3459G>A	c.(3457-3459)tcG>tcA	p.S1153S	CDK13_ENST00000340829.5_Silent_p.S1093S	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1153					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGGAGTCTTCGAAACCGTTGG	0.478000													119	109					0	0	1	0	0
VEGFA	7422	broad.mit.edu	37	6	43748499	43748499	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:43748499A>C	ENST00000425836.2	+	6	993	c.993A>C	c.(991-993)caA>caC	p.Q331H	VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000523125.1_Intron|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000417285.2_Intron|VEGFA_ENST00000523873.1_Missense_Mutation_p.Q151H|VEGFA_ENST00000482630.2_Intron|VEGFA_ENST00000520948.1_Missense_Mutation_p.Q151H|VEGFA_ENST00000523950.1_Intron|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000372067.3_Intron|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000372055.4_Missense_Mutation_p.Q331H|VEGFA_ENST00000413642.3_Missense_Mutation_p.Q331H|VEGFA_ENST00000518689.1_Missense_Mutation_p.Q151H|VEGFA_ENST00000230480.6_Intron			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	151					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	GAAAGGGGCAAAAACGAAAGC	0.532000													46	85					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661920	6661920	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:6661920C>T	ENST00000299441.3	-	2	1336	c.925G>A	c.(925-927)Gca>Aca	p.A309T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCGTGTGTGCGTCGATGGAG	0.607000													62	61					0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43912945	43912945	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:43912945C>T	ENST00000291536.3	-	3	364	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	RSPH1_ENST00000398352.3_Missense_Mutation_p.R28Q	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	66					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TCCGATATATCGAGCACCATT	0.323000													27	48					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123113404	123113404	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:123113404G>A	ENST00000264501.4	+	11	1295	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E308K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E308K			Q2LD37	K1109_HUMAN	KIAA1109	308					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGAAGAAACAGAAGAAAATAT	0.363000													13	13					0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101571981	101571981	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:101571981A>T	ENST00000326172.5	+	5	726	c.611A>T	c.(610-612)cAt>cTt	p.H204L	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.H104L|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.H204L	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.H204R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GAAGATGTTCATCTCAATGAA	0.448000													54	53					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62560127	62560127	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:62560127A>C	ENST00000532297.1	-	21	2436	c.1807T>G	c.(1807-1809)Ttc>Gtc	p.F603V	NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000294172.2_Missense_Mutation_p.F603V			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	603	TAP-C.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGATGAGTGAAGGCCTGGGCA	0.527000													30	42					0	0	1	0	0
NIPAL2	79815	broad.mit.edu	37	8	99234825	99234825	+	Missense_Mutation	SNP	G	G	A	rs149567296		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:99234825G>A	ENST00000341166.3	-	5	695	c.440C>T	c.(439-441)aCg>aTg	p.T147M	NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Missense_Mutation_p.T147M	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	147						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						TGCCAGTGTCGTACCTTTAAA	0.378000													30	37					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117182092	117182092	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:117182092A>G	ENST00000003084.6	+	9	1271	c.1139A>G	c.(1138-1140)tAt>tGt	p.Y380C	CFTR_ENST00000454343.1_Missense_Mutation_p.Y380C	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	380					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAGCAAGAATATAAGACATTG	0.299000									Cystic Fibrosis				15	11					0	0	1	0	0
ATG4C	84938	broad.mit.edu	37	1	63307175	63307175	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:63307175G>A	ENST00000317868.4	+	10	1373	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q	ATG4C_ENST00000371120.3_Missense_Mutation_p.R389Q	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	389					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						TTTTACTGTCGAAATGTTCAG	0.323000													32	57					0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36708268	36708268	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:36708268C>T	ENST00000264659.7	-	14	2805	c.2581G>A	c.(2581-2583)Gaa>Aaa	p.E861K	SRCIN1_ENST00000578925.1_Missense_Mutation_p.E895K|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	733	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GGTGGCATTTCGAAGTCCACG	0.617000													24	49					0	0	1	0	0
MMP21	118856	broad.mit.edu	37	10	127459066	127459066	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:127459066G>A	ENST00000368808.3	-	5	1073	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	358	Hemopexin-like 1.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGTTACGGAAGAAATATGTGC	0.453000													7	120					0	0	1	0	0
SBSPON	157869	broad.mit.edu	37	8	73993282	73993282	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:73993282C>T	ENST00000297354.6	-	2	585	c.381G>A	c.(379-381)ccG>ccA	p.P127P	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	127	TSP type-1.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity										CCTGGCCCTGCGGGGTGGAGT	0.602000													96	112					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172115087	172115087	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:172115087C>T	ENST00000336824.4	+	26	3536	c.3437C>T	c.(3436-3438)gCg>gTg	p.A1146V	FNDC3B_ENST00000415807.2_Missense_Mutation_p.A1146V|FNDC3B_ENST00000416957.1_Missense_Mutation_p.A1146V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1146						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGCCCCTCTGCGGCTTTTGTA	0.512000													37	39					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76922474	76922474	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:76922474G>A	ENST00000285871.4	+	18	2748	c.2621G>A	c.(2620-2622)cGa>cAa	p.R874Q	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.R588Q	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	874										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAAGTCCTTCGAGATGAAGAA	0.453000													4	109					0	0	1	0	0
DHX15	1665	broad.mit.edu	37	4	24550640	24550640	+	Silent	SNP	A	A	G	rs147779733		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:24550640A>G	ENST00000336812.4	-	6	1242	c.1086T>C	c.(1084-1086)atT>atC	p.I362I		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	362	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				AGGCTTCATCAATTTCCTACA	0.333000													16	18					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138732444	138732444	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:138732444C>T	ENST00000242351.5	-	13	2921	c.2605G>A	c.(2605-2607)Gat>Aat	p.D869N	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.D991N	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	869	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GATCTGGTATCCACACAGCTG	0.423000													48	53					0	0	1	0	0
SKA3	221150	broad.mit.edu	37	13	21742233	21742233	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:21742233A>C	ENST00000314759.5	-	4	761	c.637T>G	c.(637-639)Ttt>Gtt	p.F213V	SKA3_ENST00000400018.3_Missense_Mutation_p.F213V	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	213					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ACACACTCAAAATCATCCATT	0.333000													47	64					0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22747968	22747968	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:22747968C>T	ENST00000454584.2	+	4	703	c.398C>T	c.(397-399)tCg>tTg	p.S133L	GAS2_ENST00000433790.1_Missense_Mutation_p.S133L|GAS2_ENST00000278187.3_Missense_Mutation_p.S133L	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	133	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTATTTGAATCGGAAGGTTTG	0.383000													35	54					0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	103053916	103053916	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:103053916T>G	ENST00000376131.4	-	1	208	c.113A>C	c.(112-114)aAa>aCa	p.K38T	RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCACATTGATTTGGGCGAAAA	0.418000													35	39					0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158971738	158971738	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:158971738T>G	ENST00000605860.1	+	6	523	c.477T>G	c.(475-477)tgT>tgG	p.C159W	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.C102W|UPP2_ENST00000409859.4_Missense_Mutation_p.C159W			O95045	UPP2_HUMAN	uridine phosphorylase 2	102					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						ACAGATACTGTATGTACAAAA	0.438000													20	34					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32627031	32627031	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:32627031G>A	ENST00000266086.4	-	10	1064	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	351					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGTGTTTCACGCATTCAGAAG	0.488000													16	23					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135150764	135150764	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:135150764T>G	ENST00000372169.2	-	23	7161	c.6979A>C	c.(6979-6981)Att>Ctt	p.I2327L	SETX_ENST00000393220.1_Missense_Mutation_p.I2327L|SETX_ENST00000224140.5_Missense_Mutation_p.I2327L|SETX_ENST00000477049.1_5'UTR			Q7Z333	SETX_HUMAN	senataxin	2327					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATAAGCTTAATTATTTCCATC	0.313000													31	44					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62801186	62801186	+	RNA	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:62801186G>T	ENST00000582986.1	-	0	646					NR_024386.1																						AAGGCCGGTAGAAGTCATCCT	0.488000													11	16					3.27435e-08	3.58418e-08	1	1	0
ZDHHC8P1	150244	broad.mit.edu	37	22	23744254	23744254	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:23744254C>A	ENST00000255890.4	-	0	295																											GTCTGCAGGTCACTGCTGAAC	0.672000													8	6					3.09899e-07	3.35435e-07	1	1	0
PEX13	5194	broad.mit.edu	37	2	61272941	61272941	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:61272941G>T	ENST00000295030.5	+	3	906	c.868G>T	c.(868-870)Gaa>Taa	p.E290*		NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13		SH3.				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			ATCTGAAGAAGAAATTTCTTT	0.358000													42	53					5.34276e-22	6.93765e-22	1	1	0
KIAA1958	158405	broad.mit.edu	37	9	115421725	115421725	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:115421725A>G	ENST00000337530.6	+	4	1823	c.1527A>G	c.(1525-1527)aaA>aaG	p.K509K	KIAA1958_ENST00000536272.1_Silent_p.K537K	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	509										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCACCAAGAAACTCAAGGAGA	0.577000													16	18					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	607922	607922	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:607922G>A	ENST00000264555.5	+	14	2594	c.2466G>A	c.(2464-2466)acG>acA	p.T822T	PHRF1_ENST00000533464.1_Silent_p.T818T|PHRF1_ENST00000416188.2_Silent_p.T821T|PHRF1_ENST00000413872.2_Silent_p.T820T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	822							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCAAGAAGACGAAGCAGCTGC	0.657000													57	70					0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27573351	27573351	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:27573351C>T	ENST00000546179.1	+	14	1730	c.1577C>T	c.(1576-1578)tCg>tTg	p.S526L	ARNTL2_ENST00000544915.1_Silent_p.F565F|ARNTL2_ENST00000395901.2_Silent_p.F562F|ARNTL2_ENST00000542388.1_Silent_p.F514F|ARNTL2_ENST00000261178.5_Silent_p.F551F|ARNTL2_ENST00000311001.5_Silent_p.F585F|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000266503.5_Silent_p.F599F	NM_001248005.1	NP_001234934.1	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	0					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AGTTGGATTTCGATGCCCTAT	0.433000													31	41					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33689908	33689908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:33689908C>A	ENST00000394566.1	-	4	1191	c.919G>T	c.(919-921)Gag>Tag	p.E307*	SLFN11_ENST00000308377.4_Nonsense_Mutation_p.E307*	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	307						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCATAGAGCTCTCCCCTTTTT	0.433000													42	70					1.57019e-19	1.99758e-19	1	1	0
CPEB1	64506	broad.mit.edu	37	15	83215217	83215217	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:83215217G>A	ENST00000563800.1	-	11	3355	c.1630C>T	c.(1630-1632)Cct>Tct	p.P544S	RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.P442S|CPEB1_ENST00000562019.1_Missense_Mutation_p.P522S|CPEB1_ENST00000398592.2_Missense_Mutation_p.P291S|CPEB1_ENST00000450751.2_Missense_Mutation_p.P442S|CPEB1_ENST00000398591.2_Missense_Mutation_p.P447S|CPEB1_ENST00000564522.1_Missense_Mutation_p.P442S|CPEB1_ENST00000568128.1_Missense_Mutation_p.P517S|RP11-152F13.10_ENST00000562833.1_Silent_p.S251S|CPEB1_ENST00000423133.2_Missense_Mutation_p.P442S|CPEB1_ENST00000261723.6_Missense_Mutation_p.P520S			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	522	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AAAGGACCAGGCTGAGAACTG	0.478000													69	84					0	0	1	0	0
C9orf24	84688	broad.mit.edu	37	9	34382763	34382763	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:34382763G>A	ENST00000297623.2	-	3	583	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W		NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	129								p.R129W(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TTAGGCAGCCGAGGAAGGTAG	0.522000													45	62					0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64746779	64746779	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:64746779G>A	ENST00000543942.2	-	2	936	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	C12orf56_ENST00000333722.5_Missense_Mutation_p.R104C|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	104										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TAGATGATACGAATGTGTTGG	0.328000													36	31					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12888105	12888105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:12888105C>T	ENST00000379672.5	+	20	2497	c.2197C>T	c.(2197-2199)Cga>Tga	p.R733*	ARHGAP44_ENST00000340825.3_Nonsense_Mutation_p.R727*|ARHGAP44_ENST00000262444.9_Nonsense_Mutation_p.R733*	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	733					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TCCTAAGCCGCGACAGAGACC	0.622000													13	32					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666442	12666442	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:12666442G>T	ENST00000425538.1	+	14	2642	c.2442G>T	c.(2440-2442)aaG>aaT	p.K814N	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.K766N	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	766					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AAGTCCCAAAGATACCCAGAT	0.483000													42	70					5.20837e-25	6.92674e-25	1	1	0
ITSN1	6453	broad.mit.edu	37	21	35231051	35231051	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:35231051T>G	ENST00000381318.3	+	31	4133	c.3845T>G	c.(3844-3846)tTt>tGt	p.F1282C	ITSN1_ENST00000437442.2_Missense_Mutation_p.F1277C|ITSN1_ENST00000399367.3_Missense_Mutation_p.F1277C|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.F1282C|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1282	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCTATGATTTTTGTGAACTGG	0.438000													36	60					0	0	1	0	0
SGTB	54557	broad.mit.edu	37	5	64968101	64968101	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:64968101C>T	ENST00000381007.4	-	9	924	c.689G>A	c.(688-690)aGt>aAt	p.S230N		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	230							binding			large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		CTGCATTAAACTTGCCGCCTG	0.388000													58	72					0	0	1	0	0
FKBP1A	2280	broad.mit.edu	37	20	1356228	1356228	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:1356228C>A	ENST00000400137.4	-	3	268	c.105G>T	c.(103-105)aaG>aaT	p.K35N	FKBP1A_ENST00000381715.1_Missense_Mutation_p.K30N|FKBP1A_ENST00000381719.3_Missense_Mutation_p.K35N|FKBP1A_ENST00000439640.2_Missense_Mutation_p.K19N|SDCBP2-AS1_ENST00000609285.1_RNA|SDCBP2-AS1_ENST00000609470.1_RNA|SDCBP2-AS1_ENST00000446423.1_RNA|FKBP1A_ENST00000381724.3_Missense_Mutation_p.K30N	NM_000801.4	NP_000792.1	P62942	FKB1A_HUMAN	FK506 binding protein 1A, 12kDa	35	PPIase FKBP-type.				'de novo' protein folding|beta-amyloid formation|fibril organization|heart trabecula formation|negative regulation of protein phosphatase type 2B activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein binding|positive regulation of protein ubiquitination|protein maturation by protein folding|protein refolding|regulation of activin receptor signaling pathway|regulation of immune response|regulation of ryanodine-sensitive calcium-release channel activity|SMAD protein complex assembly|T cell activation|ventricular cardiac muscle tissue morphogenesis	axon|cytosol|sarcoplasmic reticulum membrane|terminal cisterna	activin binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity|signal transducer activity|SMAD binding|type I transforming growth factor beta receptor binding			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3					Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)	AATCAAATTTCTTTCCATCTT	0.483000													17	26					1.33834e-09	1.4963e-09	1	1	0
PARP14	54625	broad.mit.edu	37	3	122437243	122437243	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:122437243G>T	ENST00000474629.2	+	14	4511	c.4245G>T	c.(4243-4245)aaG>aaT	p.K1415N	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CCCAAAAAAAGAATCATTTGG	0.373000													44	52					6.5261e-18	8.14312e-18	1	1	0
MRPL9	65005	broad.mit.edu	37	1	151733936	151733936	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:151733936G>T	ENST00000368830.3	-	5	663	c.579C>A	c.(577-579)ttC>ttA	p.F193L	MRPL9_ENST00000467306.1_5'UTR|MRPL9_ENST00000368829.3_Intron	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	193					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CATTCTTAAAGAAGTGGCGGG	0.483000													28	22					2.4375e-19	3.09652e-19	1	1	0
DOCK9	23348	broad.mit.edu	37	13	99667817	99667817	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:99667817C>T	ENST00000448493.2	-	1	156	c.46G>A	c.(46-48)Gtt>Att	p.V16I	DOCK9_ENST00000339416.2_Intron			Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	0					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTTCAAAAACGGTGCGGATG	0.393000													17	25					0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23353272	23353272	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:23353272C>T	ENST00000258729.3	-	13	1752	c.1396G>A	c.(1396-1398)Gct>Act	p.A466T		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	466	KH 3.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CTTCCCTGAGCCTGCAGATGA	0.388000													9	23					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50779931	50779931	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:50779931A>C	ENST00000404971.1	-	10	3012	c.1673T>G	c.(1672-1674)tTa>tGa	p.L558*	NRXN1_ENST00000405472.3_Nonsense_Mutation_p.L510*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.L518*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.L518*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.L510*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.L518*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	518	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGGCTAAATAAGATGAGGCC	0.438000													56	58					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213302969	213302969	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:213302969G>T	ENST00000366960.3	+	6	722	c.572G>T	c.(571-573)aGa>aTa	p.R191I	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.R179I|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.R10I|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Intron	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	191					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TCTCCCATTAGAACTTTTGGT	0.438000													33	44					1.22384e-17	1.52209e-17	1	1	0
MFN1	55669	broad.mit.edu	37	3	179083013	179083013	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:179083013C>T	ENST00000471841.1	+	7	879	c.753C>T	c.(751-753)gaC>gaT	p.D251D	MFN1_ENST00000263969.5_Splice_Site_p.D251D|MFN1_ENST00000280653.7_Splice_Site_p.D251D	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	251					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATATGGAAGACGTAAGTTGTT	0.318000													16	28					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170493518	170493518	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:170493518C>T	ENST00000260970.3	+	14	1970	c.1750C>T	c.(1750-1752)Cgc>Tgc	p.R584C	PPIG_ENST00000409714.3_Missense_Mutation_p.R569C|PPIG_ENST00000448752.2_Missense_Mutation_p.R584C	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	584	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TGACAGAGATCGCAGCAGAAG	0.453000													32	40					0	0	1	0	0
PSMD6	9861	broad.mit.edu	37	3	64004993	64004993	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:64004993C>T	ENST00000492933.1	-	4	687	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	PSMD6_ENST00000394431.2_Missense_Mutation_p.R121Q|PSMD6_ENST00000482510.1_Missense_Mutation_p.R120Q|PSMD6_ENST00000295901.4_Missense_Mutation_p.R159Q	NM_001271779.1	NP_001258708.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	159	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		TTCTGTGTTTCGTGTGATGAG	0.363000													41	40					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	436911	436911	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:436911C>T	ENST00000338977.5	-	2	1357	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E449K|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTCCCACATTCTTTACATTTG	0.373000													24	30					0	0	1	0	0
IFNGR2	3460	broad.mit.edu	37	21	34805069	34805069	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:34805069C>T	ENST00000290219.6	+	6	1418	c.770C>T	c.(769-771)tCg>tTg	p.S257L	IFNGR2_ENST00000381995.1_Missense_Mutation_p.S276L|IFNGR2_ENST00000405436.1_Missense_Mutation_p.S178L	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	257					regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	p.S257*(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	GGAACATTTTCGTTGCTGTCG	0.473000													41	53					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103123353	103123353	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:103123353T>G	ENST00000424685.2	-	63	10406	c.10247A>C	c.(10246-10248)gAt>gCt	p.D3416A	RELN_ENST00000473945.1_5'UTR|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.D3416A|RELN_ENST00000428762.1_Missense_Mutation_p.D3416A			P78509	RELN_HUMAN	reelin	3416					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCCCATTGATCATGACCTGT	0.473000													37	54					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25611288	25611288	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:25611288C>T	ENST00000330688.4	+	4	909	c.488C>T	c.(487-489)tCg>tTg	p.S163L	RARB_ENST00000458646.1_Missense_Mutation_p.S51L|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Missense_Mutation_p.S51L|RARB_ENST00000404969.1_Missense_Mutation_p.S170L	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	170	Hinge.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.S163L(1)|p.S170L(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AAGGAGACTTCGAAGCAAGAA	0.502000													28	44					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44685219	44685219	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:44685219G>T	ENST00000396058.1	+	5	2764	c.2597G>T	c.(2596-2598)aGa>aTa	p.R866I	ZNF197_ENST00000344387.4_Missense_Mutation_p.R866I|ZNF197_ENST00000383745.2_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	866					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GAACATCAAAGAATTCACAGT	0.403000													14	89					2.23348e-06	2.38223e-06	1	1	0
C2orf78	388960	broad.mit.edu	37	2	74040881	74040881	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:74040881C>T	ENST00000409561.1	+	2	496	c.375C>T	c.(373-375)ggC>ggT	p.G125G		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	125	Ser-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CTTATCCAGGCGTTTTTGAGT	0.473000													31	25					0	0	1	0	0
LOC283683	283683	broad.mit.edu	37	15	23114233	23114233	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:23114233G>A	ENST00000557922.1	-	0	199					NR_040057.1																						GCGAGCCTGGGCAGCCAAACA	0.438000													12	23					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66007871	66007871	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:66007871G>T	ENST00000443035.3	-	14	2113	c.1898C>A	c.(1897-1899)tCt>tAt	p.S633Y	DENND4A_ENST00000431932.2_Missense_Mutation_p.S633Y	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ACTAACAAAAGAACATTCTTC	0.353000													9	17					0.00829132	0.0084208	1	1	0
SEC14L5	9717	broad.mit.edu	37	16	5037607	5037607	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:5037607G>A	ENST00000251170.7	+	3	293	c.113G>A	c.(112-114)gGc>gAc	p.G38D		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	38	PRELI/MSF1.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GTCTTCCTGGGCAGCGAGGTC	0.731000													3	1					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344796	38344796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:38344796G>T	ENST00000374618.3	+	5	1922	c.1744G>T	c.(1744-1746)Gaa>Taa	p.E582*	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.E581*|ZNF33A_ENST00000458705.2_Nonsense_Mutation_p.E581*|ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.E588*	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	581						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GAAACCCTACGAATGTCATGA	0.388000													40	49					3.09479e-21	3.99818e-21	1	1	0
GPR179	440435	broad.mit.edu	37	17	36484747	36484747	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:36484747C>T	ENST00000342292.4	-	11	4725	c.4705G>A	c.(4705-4707)Gca>Aca	p.A1569T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1569						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACCTGCGTTGCTCTGCTTCCT	0.532000													67	100					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1906097	1906097	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:1906097A>C	ENST00000503128.1	+	3	959	c.752A>C	c.(751-753)aAa>aCa	p.K251T	WHSC1_ENST00000436793.1_Missense_Mutation_p.K251T|WHSC1_ENST00000508803.1_Missense_Mutation_p.K251T|WHSC1_ENST00000382891.5_Missense_Mutation_p.K251T|WHSC1_ENST00000514045.1_Missense_Mutation_p.K251T|WHSC1_ENST00000420906.2_Missense_Mutation_p.K251T|WHSC1_ENST00000398261.1_Missense_Mutation_p.K251T|WHSC1_ENST00000382895.3_Missense_Mutation_p.K251T|WHSC1_ENST00000382892.2_Missense_Mutation_p.K251T			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	251	PWWP 1.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGCTATACCAAACTTAAAGGT	0.418000			T	IGH@	MM								40	52					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42458266	42458266	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:42458266G>A	ENST00000262407.5	-	13	1405	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	ITGA2B_ENST00000377068.3_Silent_p.I143I|ITGA2B_ENST00000353281.4_Silent_p.I458I	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	458					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CGTTGTCATCGATGTCTACGG	0.607000													58	79					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133384879	133384879	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:133384879G>T	ENST00000204726.3	-	5	1334	c.776C>A	c.(775-777)tCt>tAt	p.S259Y	GOLGA3_ENST00000456883.2_Missense_Mutation_p.S259Y|GOLGA3_ENST00000537452.1_Missense_Mutation_p.S259Y|GOLGA3_ENST00000545875.1_Missense_Mutation_p.S259Y|GOLGA3_ENST00000450791.2_Missense_Mutation_p.S259Y	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	259					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		ATTTCCCCCAGAATTCCCCGC	0.537000													72	116					7.59065e-32	1.04521e-31	1	1	0
POLG	5428	broad.mit.edu	37	15	89872334	89872334	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:89872334C>T	ENST00000268124.5	-	4	1196	c.863G>A	c.(862-864)cGc>cAc	p.R288H	POLG_ENST00000442287.2_Missense_Mutation_p.R288H	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	288					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GAAACGCATGCGGGAACCCTg	0.607000								DNA polymerases (catalytic subunits)					16	13					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75276132	75276132	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:75276132C>A	ENST00000325680.7	+	7	4695	c.4571C>A	c.(4570-4572)tCa>tAa	p.S1524*	YLPM1_ENST00000238571.3_Nonsense_Mutation_p.S1329*|YLPM1_ENST00000552421.1_Nonsense_Mutation_p.S818*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1329	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCACCAGGTTCAATTGTAAGA	0.502000													7	3					2.0095e-06	2.14548e-06	1	1	0
PNMAL2	57469	broad.mit.edu	37	19	46998617	46998617	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:46998617C>T	ENST00000599531.1	-	1	1138	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	PNMAL2_ENST00000377655.2_Missense_Mutation_p.E36K|PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_3'UTR	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	36										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		aggacggcttcgacgtctgcc	0.662000													38	48					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62563669	62563669	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:62563669C>T	ENST00000541428.1	-	5	503	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	ASPH_ENST00000517903.1_Missense_Mutation_p.E130K|ASPH_ENST00000517847.2_Missense_Mutation_p.E130K|ASPH_ENST00000518068.1_Missense_Mutation_p.E144K|ASPH_ENST00000522835.1_Missense_Mutation_p.E130K|ASPH_ENST00000379454.4_Missense_Mutation_p.E144K|ASPH_ENST00000445642.3_Missense_Mutation_p.E130K|ASPH_ENST00000356457.5_Missense_Mutation_p.E144K	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	144	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GCTTCATCTTCGATATTCTGG	0.348000													19	27					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468430	56468430	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:56468430C>T	ENST00000288221.6	-	2	861	c.606G>A	c.(604-606)gcG>gcA	p.A202A		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	202						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CAGACATCCGCGCTGCCTCTT	0.458000													57	49					0	0	1	0	0
SLC16A7	9194	broad.mit.edu	37	12	60165017	60165017	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:60165017T>C	ENST00000261187.4	+	3	399	c.235T>C	c.(235-237)Ttg>Ctg	p.L79L	SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000552024.1_Silent_p.L79L|SLC16A7_ENST00000552432.1_Silent_p.L79L|SLC16A7_ENST00000547379.1_Silent_p.L79L	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	79						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	AAGTAGTGTTTTGGTGAATAA	0.433000													70	107					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535733	166535733	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:166535733C>A	ENST00000314499.7	+	7	1604	c.1228C>A	c.(1228-1230)Ctt>Att	p.L410I	CSRNP3_ENST00000409420.1_Missense_Mutation_p.L442I|CSRNP3_ENST00000342316.4_Missense_Mutation_p.L410I	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	410					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TCCTTCAGTTCTTTGTTATTC	0.463000													30	44					1.08312e-15	1.31309e-15	1	1	0
MUC20	200958	broad.mit.edu	37	3	195452907	195452907	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:195452907C>T	ENST00000320736.6	+	3	1046	c.920C>T	c.(919-921)gCc>gTc	p.A307V	MUC20_ENST00000445522.2_Missense_Mutation_p.A443V|MUC20_ENST00000447234.2_Missense_Mutation_p.A478V|MUC20_ENST00000436408.1_Missense_Mutation_p.A478V			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	478	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		ACAGCCTCTGCCGAGACCCTG	0.602000													10	65					0	0	1	0	0
LEPREL4	10609	broad.mit.edu	37	17	39959677	39959677	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:39959677G>A	ENST00000355468.3	-	8	1619	c.1153C>T	c.(1153-1155)Ctg>Ttg	p.L385L	LEPREL4_ENST00000393928.1_Silent_p.L385L			Q92791	SC65_HUMAN	leprecan-like 4	385	Asp/Glu-rich (acidic).				synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						GTCTCCTCCAGCTCCATCTAG	0.597000													24	44					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56868679	56868679	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:56868679G>A	ENST00000564887.1	+	14	2031	c.1402G>A	c.(1402-1404)Gga>Aga	p.G468R	NUP93_ENST00000308159.5_Missense_Mutation_p.G591R|NUP93_ENST00000542526.1_Missense_Mutation_p.G468R|NUP93_ENST00000569842.1_Missense_Mutation_p.G591R	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	591					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AGAGAATGACGGAAGTAGAAA	0.318000													17	32					0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417824	40417824	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:40417824G>A	ENST00000333407.6	+	4	1404	c.1310G>A	c.(1309-1311)cGc>cAc	p.R437H	FAM83F_ENST00000473717.1_Missense_Mutation_p.R269H	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F											breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CCCGCCAGGCGCTTCAGCAGC	0.657000													22	35					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110394707	110394707	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:110394707T>C	ENST00000378402.5	+	4	428	c.324T>C	c.(322-324)gaT>gaC	p.D108D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	108	IPT/TIG 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGCCGGAAGATTCCTACACTG	0.393000										HNSCC(38;0.096)			43	59					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18881228	18881228	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:18881228C>A	ENST00000446231.2	-	19	2993	c.2581G>T	c.(2581-2583)Gat>Tat	p.D861Y	SMG1_ENST00000389467.3_Missense_Mutation_p.D861Y			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	861	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCAGAGAAATCTTGGGGGTGG	0.328000													10	16					2.74318e-10	3.09944e-10	1	1	0
PTPN3	5774	broad.mit.edu	37	9	112190912	112190912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:112190912G>A	ENST00000412145.1	-	6	2977	c.424C>T	c.(424-426)Cga>Tga	p.R142*	PTPN3_ENST00000374541.2_Nonsense_Mutation_p.R273*|PTPN3_ENST00000262539.3_Nonsense_Mutation_p.R164*|PTPN3_ENST00000446349.1_Nonsense_Mutation_p.R142*	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	273	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGTTTCTGTCGCTGATGTATG	0.398000													11	11					0	0	1	0	0
RNF44	22838	broad.mit.edu	37	5	175958584	175958584	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:175958584C>T	ENST00000274811.4	-	4	869	c.345G>A	c.(343-345)acG>acA	p.T115T	RNF44_ENST00000537487.1_Silent_p.T34T	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	115	Pro-rich.						zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCTTGGGTCGTCACTGTGG	0.617000													12	17					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118628687	118628687	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:118628687C>A	ENST00000336338.5	-	13	1685	c.1620G>T	c.(1618-1620)aaG>aaT	p.K540N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	540						cilium|flagellar axoneme|microtubule		p.K540N(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATCAAAATTCTTTTGGTCCT	0.423000													29	44					8.58068e-18	1.06943e-17	1	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70713048	70713048	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:70713048C>T	ENST00000530196.1	-	0	1470					NR_003951.1																						GCACAGGGAGCCCCAGGCCTT	0.488000													19	22					0	0	1	0	0
MUM1	84939	broad.mit.edu	37	19	1356434	1356434	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:1356434T>C	ENST00000344663.3	+	2	147	c.46T>C	c.(46-48)Tta>Cta	p.L16L	MUM1_ENST00000591806.1_Silent_p.L16L|MUM1_ENST00000311401.5_5'UTR|MUM1_ENST00000415183.3_Silent_p.L16L			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	15					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAAAGCGATTATGGCCTGC	0.458000													34	34					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112630946	112630946	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:112630946C>A	ENST00000341068.3	-	5	1239	c.467G>T	c.(466-468)aGc>aTc	p.S156I	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	156					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AATACATGAGCTTTGCAATAT	0.348000													9	15					6.72482e-11	7.66641e-11	1	1	0
C20orf85	128602	broad.mit.edu	37	20	56735719	56735719	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:56735719C>A	ENST00000371168.3	+	4	316	c.255C>A	c.(253-255)gtC>gtA	p.V85V		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	85								p.V85V(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			CATTCCAGGTCTTTCCATCCC	0.567000													17	17					3.52763e-06	3.75281e-06	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	80772162	80772162	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:80772162G>A	ENST00000466387.1	+	14	2070	c.1346G>A	c.(1345-1347)cGg>cAg	p.R449Q	CTNNA2_ENST00000402739.4_Missense_Mutation_p.R449Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R449Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R449Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R483Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R128Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R449Q			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	449					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAATTAGTTCGGATGGCAGCC	0.483000													31	25					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215657050	215657050	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:215657050C>T	ENST00000260947.4	-	3	469	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	BARD1_ENST00000471787.1_Intron|BARD1_ENST00000449967.2_Intron	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	112	Interaction with BRCA1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAGCAAATTTCGAAGCTTACT	0.368000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				18	3					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101971349	101971349	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:101971349G>A	ENST00000543253.1	+	5	2471	c.1552G>A	c.(1552-1554)Gaa>Aaa	p.E518K	GPRASP2_ENST00000535209.1_Missense_Mutation_p.E518K|GPRASP2_ENST00000332262.5_Missense_Mutation_p.E518K	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TGGAATTCCCGAAGAGGCTTC	0.517000													50	3					0	0	1	0	0
MS4A8	83661	broad.mit.edu	37	11	60482596	60482596	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:60482596C>A	ENST00000300226.2	+	6	840	c.637C>A	c.(637-639)Caa>Aaa	p.Q213K		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		GGTCTGCTGTCAATCAAGCAA	0.557000													20	24					4.96729e-08	5.42951e-08	1	1	0
OSTCP1	202459	broad.mit.edu	37	6	159262943	159262943	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:159262943C>T	ENST00000522287.1	-	0	400					NR_028496.1																						GGATGCAAGTCCTTCCATAAT	0.423000													41	56					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153332524	153332524	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:153332524C>T	ENST00000281708.4	-	2	1661	c.432G>A	c.(430-432)acG>acA	p.T144T	FBXW7_ENST00000603548.1_Silent_p.T144T|FBXW7_ENST00000604872.1_Silent_p.T144T|FBXW7_ENST00000603841.1_Silent_p.T144T	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	144			T -> R (in dbSNP:rs7660281).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.T144T(2)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TACTGGAGTTCGTGACACTGT	0.423000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								21	22					0	0	1	0	0
AQP1	358	broad.mit.edu	37	7	30951892	30951892	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:30951892C>T	ENST00000311813.4	+	1	423	c.368C>T	c.(367-369)tCg>tTg	p.S123L	AQP1_ENST00000434909.2_Missense_Mutation_p.S183L|AQP1_ENST00000509504.1_Missense_Mutation_p.S300L	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				ACTGGGAACTCGCTTGGCCGC	0.602000													47	69					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196274417	196274417	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:196274417T>C	ENST00000367433.5	-	21	2571	c.2470A>G	c.(2470-2472)Atg>Gtg	p.M824V	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.M774V|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000609185.1_Missense_Mutation_p.M774V|KCNT2_ENST00000294725.9_Missense_Mutation_p.M848V	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	848						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTGAATTGCATGAATCTCATG	0.363000													27	13					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19338921	19338921	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:19338921C>A	ENST00000252575.6	+	8	2591	c.2492C>A	c.(2491-2493)tCc>tAc	p.S831Y	NCAN_ENST00000538881.1_Missense_Mutation_p.S282Y	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCCATGGATTCCACAGTCACG	0.567000													41	51					9.73076e-26	1.29898e-25	1	1	0
GPHA2	170589	broad.mit.edu	37	11	64702874	64702874	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:64702874T>G	ENST00000279168.2	-	2	113	c.59A>C	c.(58-60)gAa>gCa	p.E20A	GPHA2_ENST00000532246.1_Missense_Mutation_p.E20A|GPHA2_ENST00000533257.1_Missense_Mutation_p.E20A	NM_130769.3	NP_570125.1	Q96T91	GPHA2_HUMAN	glycoprotein hormone alpha 2	20						extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|prostate(1)	3						GCCCCAGGCTTCAGTGACTGC	0.607000													23	11					0	0	1	0	0
TXNL1	9352	broad.mit.edu	37	18	54291624	54291624	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:54291624A>C	ENST00000217515.6	-	3	468	c.264T>G	c.(262-264)atT>atG	p.I88M	TXNL1_ENST00000540155.1_De_novo_Start_InFrame|TXNL1_ENST00000590954.1_Missense_Mutation_p.I88M	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	88	Thioredoxin.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		GATATTGATCAATTCTCACTT	0.383000													64	76					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245771030	245771030	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:245771030C>T	ENST00000366518.4	+	4	596	c.492C>T	c.(490-492)ttC>ttT	p.F164F	KIF26B_ENST00000407071.2_Silent_p.F545F			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	545					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGTTCTGTTTCGGCCACGCCA	0.567000													10	14					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170079094	170079094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:170079094G>A	ENST00000458537.3	+	1	1684	c.975G>A	c.(973-975)tgG>tgA	p.W325*	SKIL_ENST00000426052.2_Nonsense_Mutation_p.W305*|SKIL_ENST00000413427.2_Nonsense_Mutation_p.W325*|SKIL_ENST00000259119.4_Nonsense_Mutation_p.W325*	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	325					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAGCTAAATGGCATTGCTATC	0.393000													46	52					0	0	1	0	0
MBL1P	8512	broad.mit.edu	37	10	81680809	81680809	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:81680809C>T	ENST00000480805.1	+	0	876					NR_002724.2																						AAAAGGAGATCGTGGGGACAA	0.612000													7	9					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101125090	101125090	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:101125090G>A	ENST00000259455.2	-	13	2259	c.1800C>T	c.(1798-1800)atC>atT	p.I600I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	600					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TGCCCCCCACGATCACAAGCA	0.592000													33	31					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70959707	70959707	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:70959707G>T	ENST00000322954.6	-	16	3501	c.3316C>A	c.(3316-3318)Ctt>Att	p.L1106I	UACA_ENST00000560441.1_Missense_Mutation_p.L1091I|UACA_ENST00000379983.2_Missense_Mutation_p.L1093I|UACA_ENST00000539319.1_Missense_Mutation_p.L997I	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1106						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTTTGCAAAAGATTTTGCACT	0.358000													49	46					4.00472e-15	4.82212e-15	1	1	0
HMGB1	3146	broad.mit.edu	37	13	31035654	31035654	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:31035654C>T	ENST00000405805.1	-	5	1428	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	HMGB1_ENST00000326004.4_3'UTR|HMGB1_ENST00000341423.5_Missense_Mutation_p.R163Q|HMGB1_ENST00000399494.1_Missense_Mutation_p.R163Q|HMGB1_ENST00000339872.4_Missense_Mutation_p.R163Q|HMGB1_ENST00000399489.1_3'UTR			P09429	HMGB1_HUMAN	high mobility group box 1	163					base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		TCCTTTAGCTCGATATGCAGC	0.388000													3	2					0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159188041	159188041	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:159188041C>T	ENST00000367075.3	-	14	1834	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	EZR_ENST00000337147.7_Missense_Mutation_p.E556K|EZR_ENST00000392177.4_Missense_Mutation_p.E524K	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	556	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CTCATGTTCTCGTTGTGGATG	0.567000			T	ROS1	NSCLC								66	92					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72775506	72775506	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:72775506C>T	ENST00000299687.5	+	8	5829	c.5829C>T	c.(5827-5829)gtC>gtT	p.V1943V		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1943					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGGTGGTCGTCGTGGGGGGCT	0.627000													3	6					0	0	1	0	0
DBNL	28988	broad.mit.edu	37	7	44100395	44100395	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:44100395C>T	ENST00000494774.1	+	13	1197	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S	DBNL_ENST00000490734.2_Silent_p.S297S|DBNL_ENST00000456905.1_Silent_p.S343S|DBNL_ENST00000468694.1_Silent_p.S400S|DBNL_ENST00000448521.1_Silent_p.S391S|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000452943.1_Silent_p.S367S|DBNL_ENST00000440166.1_Silent_p.S288S	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	391	SH3.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						CAGAGATCTCCTTTGACCCCG	0.617000													14	22					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997802	27997802	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:27997802G>T	ENST00000441525.1	-	1	1764	c.1650C>A	c.(1648-1650)ttC>ttA	p.F550L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	550								p.F550L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GACGCACGAAGAACCGAAGCA	0.478000													23	40					2.89027e-11	3.30697e-11	1	1	0
HFM1	164045	broad.mit.edu	37	1	91781702	91781702	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:91781702C>A	ENST00000370425.3	-	27	3036	c.2938G>T	c.(2938-2940)Gaa>Taa	p.E980*	HFM1_ENST00000294696.5_Nonsense_Mutation_p.E212*|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E659*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	980	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATCACAGTTTCTTTTATCTGG	0.274000													15	27					2.48551e-13	2.91259e-13	1	1	0
TRMT61B	55006	broad.mit.edu	37	2	29092607	29092607	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:29092607G>T	ENST00000306108.5	-	1	560	c.537C>A	c.(535-537)ctC>ctA	p.L179L		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	179							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						TACTATTTAAGAGTCCGAAGT	0.488000													39	50					1.30998e-17	1.62847e-17	1	1	0
HNF1A	6927	broad.mit.edu	37	12	121435406	121435406	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:121435406T>C	ENST00000257555.6	+	7	1665	c.1439T>C	c.(1438-1440)gTg>gCg	p.V480A	HNF1A_ENST00000544413.1_Missense_Mutation_p.V480A|HNF1A_ENST00000541395.1_Missense_Mutation_p.V480A|HNF1A_ENST00000400024.2_Missense_Mutation_p.V480A|HNF1A_ENST00000538626.1_Missense_Mutation_p.V62A|HNF1A_ENST00000402929.1_3'UTR			P20823	HNF1A_HUMAN	HNF1 homeobox A	480					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATGCCACCTGTGCAGAGCCAT	0.652000									Hepatic Adenoma, Familial Clustering of				12	19					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148865256	148865256	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:148865256C>T	ENST00000367467.3	+	18	3125	c.2650C>T	c.(2650-2652)Caa>Taa	p.Q884*		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	884			Q -> R (in dbSNP:rs208696).				protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCCCCTGGAGCAAGACTCTGC	0.537000													122	123					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135376055	135376055	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:135376055G>T	ENST00000354042.4	-	13	2026	c.1337C>A	c.(1336-1338)tCa>tAa	p.S446*	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	446						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GGTCCCCAGTGAGTGCTCCTG	0.522000													23	39					2.21704e-12	2.5653e-12	1	1	0
LOC653786	653786	broad.mit.edu	37	16	22588020	22588020	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:22588020G>A	ENST00000550753.1	+	0	2495					NR_003676.2																						TGAGCACATCGTCCTGTGTTG	0.572000													17	45					0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90895665	90895665	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:90895665C>T	ENST00000287934.2	+	1	1883	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	490					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	p.F490F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGCGTGGCTTCGTGCTGGCGC	0.612000													104	151					0	0	1	0	0
HRH3	11255	broad.mit.edu	37	20	60791386	60791386	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:60791386C>A	ENST00000340177.5	-	3	1298	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N	HRH3_ENST00000317393.6_Missense_Mutation_p.K338N	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	338					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GGGACACCATCTTCATGCGCT	0.652000													10	10					1.58986e-06	1.70119e-06	1	1	0
PCDH7	5099	broad.mit.edu	37	4	30725802	30725802	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:30725802G>A	ENST00000361762.2	+	1	3766	c.2758G>A	c.(2758-2760)Gaa>Aaa	p.E920K	PCDH7_ENST00000543491.1_Missense_Mutation_p.E920K	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	920					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.E920Q(1)|p.E873Q(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AAAAGATCACGAAGACTTTTT	0.383000													36	50					0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12298794	12298794	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:12298794A>G	ENST00000343979.4	+	4	1741	c.1601A>G	c.(1600-1602)aAa>aGa	p.K534R	ZNF136_ENST00000398616.2_Missense_Mutation_p.K468R	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	534					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						CCACCTTATAAATGCATGTGG	0.423000													7	41					0	0	1	0	0
GP6	51206	broad.mit.edu	37	19	55525592	55525592	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:55525592C>T	ENST00000310373.3	-	8	1748	c.1721G>A	c.(1720-1722)gGg>gAg	p.G574E	CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000417454.1_3'UTR|GP6_ENST00000333884.2_3'UTR	NM_001083899.1	NP_001077368	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	0					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		ccacctcagccccctgagttg	0.517000													11	7					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67077000	67077000	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:67077000C>A	ENST00000308127.4	+	11	1372	c.1194C>A	c.(1192-1194)ttC>ttA	p.F398L	SSH3_ENST00000376757.5_Missense_Mutation_p.F398L|SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	398	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CGCACCGCTTCATTGAGGCTG	0.622000													20	18					1.15919e-05	1.22173e-05	1	1	0
TXNDC11	51061	broad.mit.edu	37	16	11773214	11773214	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:11773214A>C	ENST00000356957.3	-	13	2902	c.2795T>G	c.(2794-2796)cTg>cGg	p.L932R	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.L905R			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	932					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCTGCCCTCCAGTTTCCTCTC	0.647000													36	37					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61305118	61305118	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:61305118G>T	ENST00000341074.5	-	8	1123	c.1008C>A	c.(1006-1008)gtC>gtA	p.V336V	SERPINB4_ENST00000356424.6_Silent_p.V284V	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CCTCCTCAGTGACCTCCACAA	0.488000													52	43					1.51926e-22	1.98583e-22	1	1	0
FRMPD1	22844	broad.mit.edu	37	9	37745632	37745632	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:37745632C>T	ENST00000539465.1	+	16	4196	c.3603C>T	c.(3601-3603)ttC>ttT	p.F1201F	FRMPD1_ENST00000377765.3_Silent_p.F1201F|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1201						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AAAAACTATTCGTAGAGTTGG	0.542000													54	72					0	0	1	0	0
ZUFSP	221302	broad.mit.edu	37	6	116987982	116987982	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:116987982T>G	ENST00000368576.3	-	2	617	c.374A>C	c.(373-375)gAa>gCa	p.E125A	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Missense_Mutation_p.E125A	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	125						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TTTTCTAGATTCAGTTAAGTT	0.358000													23	27					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51741195	51741195	+	Missense_Mutation	SNP	G	G	T	rs139139263		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:51741195G>T	ENST00000251076.5	-	43	9384	c.9097C>A	c.(9097-9099)Ctt>Att	p.L3033I	DMXL2_ENST00000543779.2_Missense_Mutation_p.L3034I|DMXL2_ENST00000449909.3_Missense_Mutation_p.L2397I|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	3033						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGAATGTCAAGAATTCTGTTA	0.403000													16	22					2.4624e-09	2.74096e-09	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77767157	77767157	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:77767157C>T	ENST00000521891.2	+	10	8448	c.8000C>T	c.(7999-8001)gCg>gTg	p.A2667V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2641V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2622V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2622V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2622						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGTTCCGGGCGGTGGGTCCA	0.542000										HNSCC(33;0.089)			36	61					0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15516099	15516099	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:15516099A>C	ENST00000455584.2	-	11	2011	c.1968T>G	c.(1966-1968)aaT>aaG	p.N656K	CDRT1_ENST00000395906.3_Missense_Mutation_p.N346K																							TAGAAACCTTATTGGCATAAT	0.408000													64	73					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40376868	40376868	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:40376868C>T	ENST00000221347.6	-	24	11561	c.11554G>A	c.(11554-11556)Gag>Aag	p.E3852K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3852	VWFD 9.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTCTCCAGCTCGGGAGGACAC	0.672000													18	56					0	0	1	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41450299	41450299	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:41450299G>A	ENST00000599198.1	+	0	1082					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CTTGATGACCGAGCCAAAATG	0.502000													8	15					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	70992818	70992818	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:70992818G>T	ENST00000354624.5	+	4	557	c.424G>T	c.(424-426)Gat>Tat	p.D142Y	HKDC1_ENST00000395086.2_Missense_Mutation_p.D142Y	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	142					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GAAGACCAAAGATTTAAAGCA	0.468000													4	73					0.00909568	0.00922191	1	1	0
BCOR	54880	broad.mit.edu	37	X	39931909	39931909	+	Missense_Mutation	SNP	G	G	A	rs147251146		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:39931909G>A	ENST00000342274.4	-	4	3052	c.2690C>T	c.(2689-2691)tCg>tTg	p.S897L	BCOR_ENST00000378444.4_Missense_Mutation_p.S897L|BCOR_ENST00000397354.3_Missense_Mutation_p.S897L|BCOR_ENST00000378455.4_Missense_Mutation_p.S897L	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	897					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GAATGGAGTCGAGACTGGCAA	0.512000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						50	3					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123195142	123195142	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:123195142G>A	ENST00000371160.1	+	16	1775	c.1485G>A	c.(1483-1485)tgG>tgA	p.W495*	STAG2_ENST00000354548.5_Nonsense_Mutation_p.W426*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.W495*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Nonsense_Mutation_p.W495*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.W495*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.W495*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	495					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGAAAGACTGGGAATGTATGA	0.378000													49	1					0	0	1	0	0
ZNF620	253639	broad.mit.edu	37	3	40553062	40553062	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:40553062G>A	ENST00000314529.6	+	3	275	c.126G>A	c.(124-126)gaG>gaA	p.E42E	ZNF620_ENST00000418905.1_Intron	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGATGCTGGAGAATTATGCAA	0.488000													53	63					0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5257685	5257685	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:5257685G>T	ENST00000262477.6	+	8	1219	c.995G>T	c.(994-996)aGa>aTa	p.R332I	RABEP1_ENST00000537505.1_Missense_Mutation_p.R289I|RABEP1_ENST00000408982.2_Missense_Mutation_p.R332I|RABEP1_ENST00000546142.2_Missense_Mutation_p.R332I|RABEP1_ENST00000341923.6_Missense_Mutation_p.R332I	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	332					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CTCAATAAGAGAAAGGATCAC	0.338000													8	30					0.000673444	0.000691067	1	1	0
CNTN6	27255	broad.mit.edu	37	3	1262459	1262459	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:1262459G>T	ENST00000446702.2	+	3	771	c.144G>T	c.(142-144)ctG>ctT	p.L48L	CNTN6_ENST00000539053.1_5'UTR|CNTN6_ENST00000350110.2_Silent_p.L48L			Q9UQ52	CNTN6_HUMAN	contactin 6	48	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGGTCATCCTGAATTGTGCTG	0.408000													32	36					1.45844e-13	1.71658e-13	1	1	0
MUC16	94025	broad.mit.edu	37	19	9068834	9068834	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:9068834G>T	ENST00000397910.4	-	3	18815	c.18612C>A	c.(18610-18612)ctC>ctA	p.L6204L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6206	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						ACACATCATTGAGATCATTGT	0.468000													51	61					6.9144e-35	9.61024e-35	1	1	0
TRPM7	54822	broad.mit.edu	37	15	50853894	50853894	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:50853894G>T	ENST00000313478.7	-	39	5860	c.5579C>A	c.(5578-5580)tCt>tAt	p.S1860Y	TRPM7_ENST00000561443.1_5'UTR|TRPM7_ENST00000560955.1_Missense_Mutation_p.S1859Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1860					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CAGACGAACAGAATTAGTTGA	0.358000													21	20					6.44725e-10	7.24009e-10	1	1	0
EFNA3	1944	broad.mit.edu	37	1	155058894	155058894	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:155058894T>G	ENST00000368408.3	+	5	662	c.592T>G	c.(592-594)Ttt>Gtt	p.F198V	EFNA3_ENST00000505139.1_Missense_Mutation_p.F193V|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000418360.2_Missense_Mutation_p.F172V|EFNA3_ENST00000556931.1_Missense_Mutation_p.F193V	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	198					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACAGAAGACTTTGAGGGAGA	0.637000											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	48					0	0	1	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70432106	70432106	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:70432106T>C	ENST00000393640.4	-	1	2435	c.328A>G	c.(328-330)Agg>Ggg	p.R110G	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.R110G			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	110					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				ATCCACCACCTCTGGACGTCC	0.592000													18	19					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32239142	32239142	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:32239142G>A	ENST00000382142.3	-	13	1479	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	MTMR12_ENST00000280285.5_Missense_Mutation_p.R437C|MTMR12_ENST00000264934.5_Missense_Mutation_p.R437C	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	437	Myotubularin phosphatase.					cytoplasm	phosphatase activity	p.R437C(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGTTGCAGCGATCCAAGAAA	0.502000													21	22					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67206964	67206964	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:67206964C>A	ENST00000371037.4	+	24	2386	c.2309C>A	c.(2308-2310)tCt>tAt	p.S770Y	SGIP1_ENST00000435165.2_Missense_Mutation_p.S275Y|SGIP1_ENST00000237247.6_Missense_Mutation_p.S801Y|SGIP1_ENST00000371039.1_Missense_Mutation_p.S573Y|SGIP1_ENST00000371036.3_Missense_Mutation_p.S572Y|SGIP1_ENST00000371035.3_Missense_Mutation_p.S560Y	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	770					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GGGGTGGGTTCTTTGTTGGCA	0.378000													26	32					1.38267e-23	1.81979e-23	1	1	0
CARKD	55739	broad.mit.edu	37	13	111287836	111287836	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:111287836G>T	ENST00000309957.2	+	8	687	c.673G>T	c.(673-675)Gat>Tat	p.D225Y	CARKD_ENST00000397191.4_3'UTR|CARKD_ENST00000424185.2_Missense_Mutation_p.D115Y|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000458711.2_Missense_Mutation_p.D94Y	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	225	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						TATGGACAGCGATGACAGCCA	0.567000													47	61					3.05275e-18	3.82976e-18	1	1	0
C11orf88	399949	broad.mit.edu	37	11	111405176	111405176	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:111405176G>T	ENST00000529167.1	+	6	520	c.520G>T	c.(520-522)Gaa>Taa	p.E174*	C11orf88_ENST00000332814.6_Nonsense_Mutation_p.E174*|C11orf88_ENST00000375618.4_Nonsense_Mutation_p.E147*			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	147										endometrium(1)|large_intestine(3)|lung(2)	6						AAAAGCCAAAGAACACAAAGC	0.318000													18	40					8.34094e-07	8.96096e-07	1	1	0
CSNK2A1	1457	broad.mit.edu	37	20	479928	479928	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:479928A>C	ENST00000217244.3	-	6	712	c.337T>G	c.(337-339)Ttt>Gtt	p.F113V	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.F113V|CSNK2A1_ENST00000400217.2_5'UTR|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.F113V	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	113	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ACGTGTTCAAAAACCAAGGCG	0.428000													36	31					0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60048185	60048185	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:60048185G>T	ENST00000337908.4	+	1	127	c.37G>T	c.(37-39)Gaa>Taa	p.E13*	MS4A4A_ENST00000355131.3_5'UTR|MS4A4A_ENST00000532114.1_Nonsense_Mutation_p.E13*	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	13						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CAGGCCTGAAGAAAGGTAGGT	0.502000													21	34					3.5997e-14	4.2784e-14	1	1	0
HERC5	51191	broad.mit.edu	37	4	89410460	89410460	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:89410460G>T	ENST00000264350.3	+	16	2259	c.2106G>T	c.(2104-2106)gaG>gaT	p.E702D	HERC5_ENST00000508159.1_Missense_Mutation_p.E340D	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	702	HECT.				innate immune response|ISG15-protein conjugation|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)		GTCAATTTGAGAATGAAGACC	0.373000													82	97					5.92634e-42	8.35231e-42	1	1	0
ODF3L1	161753	broad.mit.edu	37	15	76019513	76019513	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:76019513G>A	ENST00000332145.2	+	4	680	c.457G>A	c.(457-459)Gac>Aac	p.D153N		NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	153										kidney(1)|lung(1)	2						CAGAGTGATGGACCTCAACCC	0.622000													113	142					0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48418556	48418556	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:48418556C>T	ENST00000376771.4	+	6	1601	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	TBC1D25_ENST00000537536.1_Silent_p.F166F	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	420	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGTTCGCCTTCGACGATGCCC	0.572000													7	2					0	0	1	0	0
AURKC	6795	broad.mit.edu	37	19	57746697	57746697	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:57746697G>T	ENST00000302804.7	+	7	1028	c.842G>T	c.(841-843)aGa>aTa	p.R281I	AURKC_ENST00000599062.1_Missense_Mutation_p.R278I|AURKC_ENST00000598785.1_Missense_Mutation_p.R247I|AURKC_ENST00000448930.1_Missense_Mutation_p.R247I|AURKC_ENST00000415300.2_Missense_Mutation_p.R262I	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	281	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CCCTTGGAGAGACTGCCCCTG	0.602000													42	32					1.67305e-13	1.96701e-13	1	1	0
PRSS45	377047	broad.mit.edu	37	3	46784504	46784504	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:46784504T>C	ENST00000442359.2	-	3	351	c.352A>G	c.(352-354)Agg>Ggg	p.R118G	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	150	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CGGTCACACCTCTTGTTGTCC	0.547000													11	62					0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168282098	168282098	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:168282098C>T	ENST00000367821.3	+	8	1256	c.1205C>T	c.(1204-1206)tCg>tTg	p.S402L	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	402					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GCACCCACTTCGGCTGGTGTG	0.652000													32	38					0	0	1	0	0
RPAP3	79657	broad.mit.edu	37	12	48095371	48095371	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:48095371C>T	ENST00000005386.3	-	3	285	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	RPAP3_ENST00000380650.4_Missense_Mutation_p.R57Q|RPAP3_ENST00000432584.3_5'UTR	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	57							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					ATTCCCATTTCGAATAGGAGG	0.308000													11	13					0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310672	178310672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:178310672G>T	ENST00000322434.3	+	5	1445	c.1219G>T	c.(1219-1221)Gaa>Taa	p.E407*		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E407*(1)		breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCACACCGGAGAAAAGCCCTA	0.393000													30	28					8.73648e-17	1.07701e-16	1	1	0
DOCK7	85440	broad.mit.edu	37	1	63001240	63001240	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:63001240G>A	ENST00000251157.5	-	29	3568	c.3535C>T	c.(3535-3537)Cct>Tct	p.P1179S	DOCK7_ENST00000340370.5_Missense_Mutation_p.P1148S	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1179					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGGCGGAAAGGCACGGATAAT	0.413000													27	25					0	0	1	0	0
TGFB1	7040	broad.mit.edu	37	19	41850652	41850652	+	Splice_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:41850652C>A	ENST00000221930.5	-	3	1500	c.634G>T	c.(634-636)Ggg>Tgg	p.G212W		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	212					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	TAATCCTCACCTCCACGGCTC	0.592000													20	18					7.41877e-09	8.19551e-09	1	1	0
PPP6R3	55291	broad.mit.edu	37	11	68305134	68305134	+	Translation_Start_Site	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:68305134T>C	ENST00000393799.2	+	3	269	c.2T>C	c.(1-3)aTg>aCg	p.M1T	PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000393801.3_Start_Codon_SNP_p.M1T|PPP6R3_ENST00000265636.5_Start_Codon_SNP_p.M1T|PPP6R3_ENST00000524845.1_Start_Codon_SNP_p.M1T|PPP6R3_ENST00000529710.1_Start_Codon_SNP_p.M1T|PPP6R3_ENST00000527403.2_Start_Codon_SNP_p.M1T|PPP6R3_ENST00000265637.4_Start_Codon_SNP_p.M1T|PPP6R3_ENST00000393800.2_Start_Codon_SNP_p.M1T|PPP6R3_ENST00000530427.1_3'UTR|PPP6R3_ENST00000524904.1_Start_Codon_SNP_p.M1T			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	1					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TAGACCAGCATGTTTTGGAAA	0.294000													18	13					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108145753	108145753	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:108145753C>T	ENST00000228437.5	-	5	1024	c.565G>A	c.(565-567)Gac>Aac	p.D189N	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	189					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						ATTGCTGTGTCCAAGGCCACC	0.502000													65	75					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30700931	30700931	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:30700931A>C	ENST00000256246.2	-	1	5677	c.5603T>G	c.(5602-5604)tTt>tGt	p.F1868C		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1868										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTTCTTAATAAAATTAACCTT	0.353000													57	80					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100249576	100249576	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:100249576G>A	ENST00000355295.4	+	16	3333	c.3038G>A	c.(3037-3039)cGa>cAa	p.R1013Q	TDRD7_ENST00000540902.1_Missense_Mutation_p.R333Q|TDRD7_ENST00000422139.2_Missense_Mutation_p.R939Q	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	1013	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GACATGTTCCGAAAGCTGCCC	0.433000													56	56					0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102574931	102574931	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:102574931A>G	ENST00000249377.4	+	2	852	c.571A>G	c.(571-573)Aag>Gag	p.K191E	FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000456695.1_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.K191E|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000436908.1_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	191	LRRCT 1.				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAACTACGCCAAGTGTGAAAG	0.418000													33	42					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123484242	123484242	+	Silent	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:123484242T>G	ENST00000529750.1	+	15	2001	c.1674T>G	c.(1672-1674)acT>acG	p.T558T	GRAMD1B_ENST00000450171.2_Silent_p.T249T|GRAMD1B_ENST00000322282.7_Silent_p.T558T|GRAMD1B_ENST00000456860.2_Silent_p.T565T	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	558						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCAGCAAGACTACAACGGTGC	0.567000													16	27					0	0	1	0	0
GPBP1	65056	broad.mit.edu	37	5	56542208	56542208	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:56542208G>A	ENST00000424459.3	+	8	1894	c.620G>A	c.(619-621)gGa>gAa	p.G207E	GPBP1_ENST00000454432.2_Missense_Mutation_p.G207E|GPBP1_ENST00000514387.2_Missense_Mutation_p.G16E|GPBP1_ENST00000538707.1_Missense_Mutation_p.G194E|GPBP1_ENST00000511209.1_Missense_Mutation_p.G194E|GPBP1_ENST00000506184.2_Missense_Mutation_p.G187E|GPBP1_ENST00000264779.6_Missense_Mutation_p.G194E	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CAGCTATCTGGATTCCCAGTA	0.408000													27	38					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21098812	21098812	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:21098812C>T	ENST00000377122.4	-	25	2930	c.2534G>A	c.(2533-2535)cGc>cAc	p.R845H	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	845	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGGATCTGTGCGCCAAACTTT	0.383000													33	35					0	0	1	0	0
MAGEH1	28986	broad.mit.edu	37	X	55479292	55479292	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:55479292T>G	ENST00000342972.1	+	1	755	c.485T>G	c.(484-486)tTc>tGc	p.F162C		NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	162	MAGE.				apoptosis					central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						TATGAGTTCTTCTGGGGGCCC	0.498000													57	4					0	0	1	0	0
GGTLC2	91227	broad.mit.edu	37	22	22988878	22988878	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:22988878G>A	ENST00000448514.1	+	1	63	c.63G>A	c.(61-63)ccG>ccA	p.P21P	GGTLC2_ENST00000480559.1_Silent_p.P21P			Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	21					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		CCACTCACCCGATCTCCTACT	0.622000													10	10					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220379281	220379281	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:220379281G>A	ENST00000358951.2	-	8	796	c.680C>T	c.(679-681)tCt>tTt	p.S227F		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	227					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AGCACGAAGAGATTGAAAAAG	0.303000													13	9					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64356554	64356554	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:64356554A>C	ENST00000262043.3	+	2	438	c.98A>C	c.(97-99)gAt>gCt	p.D33A	PHF3_ENST00000509330.1_Missense_Mutation_p.D33A|PHF3_ENST00000393387.1_Missense_Mutation_p.D33A			Q92576	PHF3_HUMAN	PHD finger protein 3	33					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTCTGTGAGGATTTTAGTGCA	0.393000													32	44					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1615991	1615991	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:1615991C>A	ENST00000381580.1	-	4	1083	c.904G>T	c.(904-906)Ggg>Tgg	p.G302W	RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Intron|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000303415.3_Missense_Mutation_p.G335W|SIRPG_ENST00000216927.4_Intron			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	335	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GCCAGCTGCCCATCATGCTTC	0.517000													43	45					4.32679e-17	5.35502e-17	1	1	0
OR1N2	138882	broad.mit.edu	37	9	125316406	125316406	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:125316406A>G	ENST00000373688.2	+	1	1016	c.958A>G	c.(958-960)Aaa>Gaa	p.K320E		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GGCTTTGGGTAAACTTTTTGT	0.408000													22	37					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44160391	44160391	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:44160391C>T	ENST00000372396.3	+	18	2630	c.2496C>T	c.(2494-2496)ttC>ttT	p.F832F		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	832					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AATGTATCTTCTGTAAGAAGC	0.547000													42	46					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101748238	101748238	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:101748238C>T	ENST00000375001.3	+	3	915	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	164	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGAACCGCTTCGCCATGATTG	0.597000													71	88					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201437032	201437032	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:201437032G>T	ENST00000357799.4	+	7	2061	c.1963G>T	c.(1963-1965)Gaa>Taa	p.E655*		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	655					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGAGGATAAAGAACCTATCTC	0.338000													40	8					2.05212e-20	2.63646e-20	1	1	0
FAM71F1	84691	broad.mit.edu	37	7	128355598	128355598	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:128355598G>T	ENST00000315184.5	+	1	156	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	FAM71F1_ENST00000485070.1_Intron|FAM71F1_ENST00000469348.1_Intron	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	35										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGCCTGGGAAGAATTCAGGGG	0.512000													47	60					5.78141e-17	7.13875e-17	1	1	0
ZNF132	7691	broad.mit.edu	37	19	58944982	58944982	+	Missense_Mutation	SNP	C	C	T	rs148462540	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:58944982C>T	ENST00000254166.3	-	3	2229	c.1829G>A	c.(1828-1830)cGa>cAa	p.R610Q		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	610						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GCTGGATTTTCGGCTAAAGAA	0.423000													47	61					0	0	1	0	0
PSCA	8000	broad.mit.edu	37	8	143762797	143762797	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:143762797C>T	ENST00000301258.4	+	2	161	c.78C>T	c.(76-78)tgC>tgT	p.C26C	PSCA_ENST00000505305.1_3'UTR|PSCA_ENST00000513264.1_Silent_p.C26C	NM_005672.4	NP_005663.2	D3DWI6	D3DWI6_HUMAN	prostate stem cell antigen	26										endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACGAGGACTGCCTGCAGGTGG	0.672000													5	5					0	0	1	0	0
POFUT1	23509	broad.mit.edu	37	20	30795782	30795782	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:30795782C>T	ENST00000375749.3	+	1	100	c.38C>T	c.(37-39)tCt>tTt	p.S13F	POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000539210.1_5'UTR|POFUT1_ENST00000375730.3_Missense_Mutation_p.S13F	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	13					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGAGCGTGTCTTTCCTGCTG	0.726000													8	8					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137771353	137771353	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:137771353C>T	ENST00000314358.5	+	24	5450	c.5250C>T	c.(5248-5250)acC>acT	p.T1750T	KDM3B_ENST00000394866.1_Silent_p.T1406T|KDM3B_ENST00000542866.1_Silent_p.T782T	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1750					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CGGTTGGCACCCTCAAGGCTC	0.483000													5	22					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23297819	23297819	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:23297819T>C	ENST00000298032.5	+	16	2088	c.2004T>C	c.(2002-2004)aaT>aaC	p.N668N	ARMC3_ENST00000409983.3_Silent_p.N661N|ARMC3_ENST00000376528.4_Silent_p.N405N|ARMC3_ENST00000409049.3_Silent_p.N668N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	668							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTGGACGAAATACTGTTCTCA	0.438000													9	10					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244715887	244715887	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:244715887A>G	ENST00000366534.4	+	9	854	c.800A>G	c.(799-801)aAa>aGa	p.K267R	C1orf101_ENST00000366531.3_Missense_Mutation_p.K116R|C1orf101_ENST00000366533.4_Missense_Mutation_p.K267R|C1orf101_ENST00000473875.1_Intron	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	267						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GATTCATTCAAATCTTGGACC	0.448000													52	54					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412284	43412284	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:43412284G>A	ENST00000310826.5	-	3	2104	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C	ZBTB21_ENST00000398499.1_Missense_Mutation_p.R641C|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.R641C|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		GGCTTGCCGCGCCTTAACTTA	0.433000													22	31					0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	841308	841308	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:841308G>A	ENST00000317063.6	+	9	1627	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	CHTF18_ENST00000455171.2_Missense_Mutation_p.E376K|CHTF18_ENST00000262315.9_Missense_Mutation_p.E348K|CHTF18_ENST00000491530.1_3'UTR			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	348					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GAAGAGCCACGAACAGGTGCT	0.677000													9	17					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240374493	240374493	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:240374493G>A	ENST00000319653.9	+	6	4253	c.4023G>A	c.(4021-4023)aaG>aaA	p.K1341K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1341	FH2.				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)			AGGAGAGAAAGAAACCTATCT	0.348000													33	59					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731354	92731354	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:92731354T>G	ENST00000379958.2	-	3	4326	c.4057A>C	c.(4057-4059)Aaa>Caa	p.K1353Q		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1353						cytoplasm				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)			TCTTGACTTTTGATAAGATAT	0.368000													53	46					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895678	24895678	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:24895678C>A	ENST00000382071.2	+	4	859	c.774C>A	c.(772-774)ttC>ttA	p.F258L	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.F258L|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	258	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		TCACTGTTTTCTCCAGAAATG	0.448000													58	78					4.13886e-29	5.64949e-29	1	1	0
CD47	961	broad.mit.edu	37	3	107779599	107779599	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:107779599G>A	ENST00000355354.7	-	4	707	c.591C>T	c.(589-591)ttC>ttT	p.F197F	CD47_ENST00000361309.5_Silent_p.F197F	NM_198793.2	NP_942088.1	Q08722	CD47_HUMAN	CD47 molecule	197					blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			TACCTGGGACGAAAAGAATGG	0.458000													23	25					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154042813	154042813	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:154042813G>A	ENST00000368559.3	-	17	2561	c.2490C>T	c.(2488-2490)ttC>ttT	p.F830F	NUP210L_ENST00000271854.3_Silent_p.F830F	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	830						integral to membrane		p.F830F(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TATAATCTTCGAAATGGGCTA	0.378000													40	45					0	0	1	0	0
RER1	11079	broad.mit.edu	37	1	2332347	2332347	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:2332347T>C	ENST00000605895.1	+	5	471	c.338T>C	c.(337-339)aTt>aCt	p.I113T	RER1_ENST00000378512.1_Missense_Mutation_p.I113T|RER1_ENST00000378513.3_Missense_Mutation_p.F80L|RER1_ENST00000488353.1_Missense_Mutation_p.I113T|RER1_ENST00000378518.1_Missense_Mutation_p.F80L	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	113					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		CGCCCCTTCATTCGAAGGCTC	0.478000													9	125					0	0	1	0	0
DNAJB6	10049	broad.mit.edu	37	7	157155916	157155916	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:157155916G>A	ENST00000262177.4	+	3	332	c.127G>A	c.(127-129)Gag>Aag	p.E43K	DNAJB6_ENST00000443280.1_Missense_Mutation_p.E43K|DNAJB6_ENST00000452797.2_Intron|DNAJB6_ENST00000429029.2_Missense_Mutation_p.E43K	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	43	Interaction with HSP70.|J.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AGAAGAAGCAGAGAGAAAATT	0.463000													10	9					0	0	1	0	0
TSPAN13	27075	broad.mit.edu	37	7	16817466	16817466	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:16817466G>A	ENST00000262067.4	+	4	789	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	119						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GCAAGTGCTCGAAATGACATC	0.388000													39	47					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37128103	37128103	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:37128103G>A	ENST00000262879.6	+	5	851	c.567G>A	c.(565-567)gaG>gaA	p.E189E	RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000537204.1_Silent_p.E189E|RALGAPB_ENST00000397042.3_Silent_p.E189E|RALGAPB_ENST00000397040.1_Silent_p.E189E			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	189					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GCATTGCTGAGAATCTAGCAG	0.403000													72	86					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975264	20975264	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:20975264G>A	ENST00000261383.3	-	53	9941	c.9942C>T	c.(9940-9942)atC>atT	p.I3314I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3314					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)		ACATCGGCTCGATGTTGGCCA	0.507000													51	59					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215866294	215866294	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:215866294C>T	ENST00000272895.7	-	21	3070	c.2851G>A	c.(2851-2853)Gaa>Aaa	p.E951K	ABCA12_ENST00000389661.4_Missense_Mutation_p.E633K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	951					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCAAAGAGTTCGTTGCTTTTG	0.383000													63	14					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17492696	17492696	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:17492696C>T	ENST00000377873.3	-	4	591	c.552G>A	c.(550-552)caG>caA	p.Q184Q	BFSP1_ENST00000536626.1_Silent_p.Q45Q|BFSP1_ENST00000473415.1_5'UTR|BFSP1_ENST00000544874.1_Silent_p.Q45Q|BFSP1_ENST00000377868.2_Silent_p.Q59Q	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	184	Coil 1B.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TGATATAGGTCTGAACTTCCA	0.463000													22	26					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68972993	68972993	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:68972993G>A	ENST00000288368.4	+	11	1595	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	440	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			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						AGCATTATTAGAAAATGGAAT	0.353000													33	48					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37818894	37818894	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:37818894G>A	ENST00000264741.5	+	24	2809	c.2553G>A	c.(2551-2553)gaG>gaA	p.E851E	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	851					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TGGGCCAAGAGAAGGGAAACT	0.438000													28	26					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666250	20666250	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:20666250T>G	ENST00000357366.3	+	1	756	c.756T>G	c.(754-756)atT>atG	p.I252M		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTCTCTTCATTGTGGGGTCCT	0.507000													77	110					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118521219	118521219	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:118521219G>A	ENST00000361417.2	+	21	4252	c.3841G>A	c.(3841-3843)Gac>Aac	p.D1281N	PHLDB1_ENST00000356063.5_Missense_Mutation_p.D1234N|PHLDB1_ENST00000524713.1_Missense_Mutation_p.D424N|PHLDB1_ENST00000527898.1_Missense_Mutation_p.D332N|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1281	PH.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GTTTGTCTTCGACCGGCTCAA	0.577000													47	35					0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86125852	86125852	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:86125852A>T	ENST00000278487.3	+	11	1697	c.618A>T	c.(616-618)aaA>aaT	p.K206N	CCDC81_ENST00000354755.1_Missense_Mutation_p.K381N|CCDC81_ENST00000445632.2_Missense_Mutation_p.K471N|CCDC81_ENST00000528728.1_Missense_Mutation_p.K206N			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	471										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AAAGAGCGAAATTTTTAAAAG	0.353000													7	28					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	171956852	171956852	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:171956852C>T	ENST00000358155.4	+	3	468	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	DNM3_ENST00000520906.1_Missense_Mutation_p.R98C|DNM3_ENST00000367731.1_Missense_Mutation_p.R98C|DNM3_ENST00000367733.2_Missense_Mutation_p.R98C|DNM3_ENST00000355305.5_Missense_Mutation_p.R98C	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	98					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGATGAAGTTCGCCTTGAGAT	0.358000													74	89					0	0	1	0	0
NUDT22	84304	broad.mit.edu	37	11	63997456	63997456	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:63997456G>A	ENST00000279206.3	+	6	1062	c.906G>A	c.(904-906)ccG>ccA	p.P302P	RP11-783K16.14_ENST00000534988.1_RNA|NUDT22_ENST00000441250.2_Silent_p.P269P	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	302							hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						TACTCCCGCCGCTCTGAAAAT	0.547000													14	16					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237732469	237732469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:237732469G>T	ENST00000366574.2	+	29	3765	c.3448G>T	c.(3448-3450)Gaa>Taa	p.E1150*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E1134*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E1148*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1150	4 X approximate repeats.|B30.2/SPRY 2.				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)			TCAGGGCAATGAACACTATGG	0.522000													12	20					0.000151284	0.000156812	1	1	0
CCDC167	154467	broad.mit.edu	37	6	37451032	37451032	+	Missense_Mutation	SNP	C	C	A	rs148927861		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:37451032C>A	ENST00000373408.3	-	4	282	c.224G>T	c.(223-225)cGg>cTg	p.R75L		NM_138493.2	NP_612502.1	Q9P0B6	CF129_HUMAN	coiled-coil domain containing 167	75						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						CATGTTCTTCCGGTTCTCTTG	0.547000													20	39					1.2644e-06	1.35663e-06	1	1	0
OR52K1	390036	broad.mit.edu	37	11	4511066	4511066	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:4511066G>T	ENST00000307632.3	+	1	958	c.936G>T	c.(934-936)aaG>aaT	p.K312N		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCCAGAGAAAGAACATGTAGA	0.393000													44	62					1.8453e-21	2.38916e-21	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151154863	151154863	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:151154863C>T	ENST00000282466.3	-	6	7485	c.7486G>A	c.(7486-7488)Gca>Aca	p.A2496T	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2496	Ig-like C2-type 11.				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)			TAAGCTGTTGCTTCTTTAATG	0.388000													57	73					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47660801	47660801	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:47660801G>A	ENST00000397708.1	-	27	5811	c.5557C>T	c.(5557-5559)Cga>Tga	p.R1853*	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000291688.1_Nonsense_Mutation_p.R1853*|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1853					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GAAGCTCCTCGCATCAGATCC	0.507000													60	53					0	0	1	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142524	5142524	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:5142524C>A	ENST00000498233.1	-	0	874																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAAAATATATCTCTGGCAAAT	0.463000													20	32					9.7654e-05	0.000101518	1	1	0
ANKLE2	23141	broad.mit.edu	37	12	133312086	133312086	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:133312086G>A	ENST00000539605.1	-	8	8104	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	ANKLE2_ENST00000337516.5_Missense_Mutation_p.R536C|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R536C			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	536						cytoplasm|integral to membrane|nuclear envelope		p.R536C(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CAGAGCTTGCGAAAATCTTCT	0.522000													53	60					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151171335	151171335	+	Silent	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:151171335G>T	ENST00000282466.3	-	3	551	c.552C>A	c.(550-552)atC>atA	p.I184I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	184					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)			TAATGAAAGAGATTTTAAATA	0.453000													34	37					7.11191e-15	8.52502e-15	1	1	0
NUGGC	389643	broad.mit.edu	37	8	27888774	27888774	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:27888774A>C	ENST00000413272.2	-	15	2036	c.1894T>G	c.(1894-1896)Ttc>Gtc	p.F632V	NUGGC_ENST00000341513.6_Missense_Mutation_p.F632V	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		TGGATCAGGAAATTTTTTTTG	0.453000													8	171					0	0	1	0	0
ZNF273	10793	broad.mit.edu	37	7	64377989	64377989	+	Nonsense_Mutation	SNP	G	G	T	rs17850314		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:64377989G>T	ENST00000476120.1	+	2	204	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000545510.1_Nonsense_Mutation_p.E12*|ZNF273_ENST00000319636.5_5'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGTGGCCATAGAATTCTCTCT	0.413000													70	114					9.12251e-31	1.25194e-30	1	1	0
HARS2	23438	broad.mit.edu	37	5	140073231	140073231	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140073231T>G	ENST00000230771.3	+	2	387	c.164T>G	c.(163-165)tTt>tGt	p.F55C	HARS2_ENST00000508522.1_Intron|HARS2_ENST00000432671.2_Missense_Mutation_p.F55C|HARS2_ENST00000435019.2_Missense_Mutation_p.F55C|HARS2_ENST00000448069.2_Intron|HARS2_ENST00000437649.2_Missense_Mutation_p.F55C|HARS2_ENST00000502303.1_3'UTR	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	55					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACCAAATTTTATTATCAAG	0.458000													34	45					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27725813	27725813	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:27725813G>T	ENST00000333743.6	+	6	846	c.592G>T	c.(592-594)Gaa>Taa	p.E198*	GABRG3_ENST00000555083.1_Nonsense_Mutation_p.E198*	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	198					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TCCCAAAGAAGAAATGATTTA	0.358000													11	5					5.50884e-06	5.83488e-06	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38743529	38743529	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:38743529G>A	ENST00000359357.3	+	11	1367		c.e11-1		DNAH8_ENST00000441566.1_Splice_Site|DNAH8_ENST00000449981.2_Splice_Site					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTCTTTTTAAGATTACAGAAA	0.274000													14	15					0	0	1	0	0
MYNN	55892	broad.mit.edu	37	3	169497073	169497073	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:169497073A>C	ENST00000349841.5	+	3	1447	c.784A>C	c.(784-786)Aaa>Caa	p.K262Q	MYNN_ENST00000356716.4_Missense_Mutation_p.K262Q|MYNN_ENST00000544106.1_Missense_Mutation_p.K262Q|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000392733.1_Missense_Mutation_p.K262Q	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	262						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GAAACGTGGAAAATCACAGCC	0.423000													26	30					0	0	1	0	0
FABP1	2168	broad.mit.edu	37	2	88424039	88424039	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:88424039C>T	ENST00000393750.3	-	3	338	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	FABP1_ENST00000295834.3_Missense_Mutation_p.E103K|FABP1_ENST00000495375.1_5'UTR			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	103					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						CCGTTGAGTTCGGTCACAGAC	0.527000													30	29					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29883605	29883605	+	Splice_Site	SNP	C	C	T	rs112203710		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:29883605C>T	ENST00000308713.5	-	16	3134		c.e16-1		SEZ6L2_ENST00000350527.3_Splice_Site|SEZ6L2_ENST00000346932.5_Splice_Site|SEZ6L2_ENST00000537485.1_Splice_Site	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2							endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCCTGAAGCCTGGGAAAGGG	0.612000													30	25					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8616983	8616983	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:8616983G>T	ENST00000338257.8	-	7	837	c.570C>A	c.(568-570)ttC>ttA	p.F190L		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	190	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCTCCAGCAAGAAGTTGGAGA	0.557000													59	93					2.3441e-25	3.12293e-25	1	1	0
GIMAP1	170575	broad.mit.edu	37	7	150417149	150417149	+	Silent	SNP	C	C	T	rs144542417		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:150417149C>T	ENST00000307194.5	+	3	197	c.57C>T	c.(55-57)aaC>aaT	p.N19N		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TAGAAGAGAACGCTCAGTCCC	0.522000													155	193					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408700	2408700	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:2408700C>T	ENST00000381223.4	-	2	264	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	ZBED1_ENST00000381218.3_Missense_Mutation_p.A21T|ZBED1_ENST00000381222.2_Missense_Mutation_p.A21T|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	21						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGCTCTTGGCGCGGGGGTGG	0.582000													67	94					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74904426	74904426	+	Silent	SNP	C	C	T	rs145830524		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:74904426C>T	ENST00000289575.5	+	9	1634	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	SLCO2B1_ENST00000532236.1_Silent_p.I297I|SLCO2B1_ENST00000531756.1_Silent_p.I158I|SLCO2B1_ENST00000341411.4_Silent_p.I186I|SLCO2B1_ENST00000454962.2_Silent_p.I186I|SLCO2B1_ENST00000428359.2_Silent_p.I391I|SLCO2B1_ENST00000525650.1_Silent_p.I269I	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	413					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	ACCTGCTCATCGGCTGCCTCT	0.627000													36	38					0	0	1	0	0
SSR1	6745	broad.mit.edu	37	6	7298166	7298166	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:7298166T>G	ENST00000244763.4	-	6	775	c.689A>C	c.(688-690)gAa>gCa	p.E230A	SSR1_ENST00000534851.1_Missense_Mutation_p.E203A|SSR1_ENST00000479365.1_Missense_Mutation_p.E230A|SSR1_ENST00000462112.1_Missense_Mutation_p.E230A|SSR1_ENST00000474597.1_Missense_Mutation_p.E230A|SSR1_ENST00000397511.2_Missense_Mutation_p.E230A|SSR1_ENST00000489567.1_Missense_Mutation_p.E162A|RP11-69L16.4_ENST00000379928.4_RNA	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	230					cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					CTTTCTAGATTCTAGGAGTTG	0.383000													11	21					0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50518441	50518441	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:50518441T>G	ENST00000311597.5	-	5	935	c.329A>C	c.(328-330)aAc>aCc	p.N110T	MLC1_ENST00000538737.1_Intron|MLC1_ENST00000450140.2_Intron|MLC1_ENST00000431262.2_Missense_Mutation_p.N80T|MLC1_ENST00000395876.2_Missense_Mutation_p.N110T|MLC1_ENST00000535444.1_Missense_Mutation_p.N31T	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	110						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		TATCTGAAAGTTGGGAATCTG	0.373000													36	35					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10447417	10447417	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:10447417G>A	ENST00000245503.5	-	6	917	c.533C>T	c.(532-534)aCt>aTt	p.T178I	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Splice_Site_p.T178I|MYH2_ENST00000532183.2_Splice_Site_p.T178I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	178	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATCTACTTACGTGATCAGGAT	0.338000													25	25					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43896152	43896152	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:43896152C>A	ENST00000389420.3	-	4	669	c.670G>T	c.(670-672)Gat>Tat	p.D224Y	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D224Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	224						proteinaceous extracellular matrix	zinc ion binding	p.E223_N226del(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACATTAAGATCTTCATTCATG	0.313000													51	66					6.3008e-33	8.71426e-33	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155156994	155156994	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:155156994A>C	ENST00000357232.4	-	25	7444	c.7445T>G	c.(7444-7446)tTg>tGg	p.L2482W		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGCTCTAATCAAATAAATATT	0.373000													46	55					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117835998	117835998	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:117835998C>A	ENST00000350763.4	-	10	3509	c.3098G>T	c.(3097-3099)aGa>aTa	p.R1033I	TNC_ENST00000535648.1_Missense_Mutation_p.R1033I|TNC_ENST00000537320.1_Missense_Mutation_p.R1033I|TNC_ENST00000345230.3_Missense_Mutation_p.R1033I|TNC_ENST00000341037.4_Missense_Mutation_p.R1033I|TNC_ENST00000340094.3_Missense_Mutation_p.R1033I|TNC_ENST00000542877.1_Missense_Mutation_p.R1033I|TNC_ENST00000423613.2_Missense_Mutation_p.R1033I|TNC_ENST00000346706.3_Missense_Mutation_p.R1033I	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1033	Fibronectin type-III 5.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGTGGTGTTTCTTGGAAGCTG	0.567000													35	39					1.06647e-15	1.29438e-15	1	1	0
SLITRK1	114798	broad.mit.edu	37	13	84454044	84454044	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:84454044G>T	ENST00000377084.2	-	1	2484	c.1599C>A	c.(1597-1599)tgC>tgA	p.C533*		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	533	LRRCT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTGTGCAGGAGCACTCCCAGG	0.542000													29	32					2.61193e-14	3.10994e-14	1	1	0
SEPT3	55964	broad.mit.edu	37	22	42388764	42388764	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:42388764G>A	ENST00000396425.3	+	8	993	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	SEPT3_ENST00000396426.3_Missense_Mutation_p.E288K|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000406029.1_Missense_Mutation_p.E224K|SEPT3_ENST00000291236.11_Missense_Mutation_p.E224K	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	288					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GGGGATCATCGAAGGTAATTC	0.483000													5	11					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554382	140554382	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:140554382G>A	ENST00000231137.3	+	1	2140	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		656	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.706000													52	166					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73537647	73537647	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:73537647G>A	ENST00000224721.6	+	38	5076	c.5071G>A	c.(5071-5073)Gac>Aac	p.D1691N		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1686	Cadherin 16.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTTCCGCATCGACAGACACAT	0.572000													18	29					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	113003209	113003209	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:113003209G>A	ENST00000495514.1	+	17	3385	c.2681G>A	c.(2680-2682)cGa>cAa	p.R894Q	BOC_ENST00000273395.4_Missense_Mutation_p.R895Q|BOC_ENST00000355385.3_Missense_Mutation_p.R894Q			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	894					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGTTTTCCTCGAAGTGCCCTT	0.557000													59	65					0	0	1	0	0
MOSPD2	158747	broad.mit.edu	37	X	14937848	14937848	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:14937848A>T	ENST00000380492.3	+	15	1562	c.1474A>T	c.(1474-1476)Atc>Ttc	p.I492F	MOSPD2_ENST00000482354.1_Intron|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	492						integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TCAGCGTTGTATCTGGTTCCA	0.418000													108	7					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535684	166535684	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:166535684C>T	ENST00000314499.7	+	7	1555	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	CSRNP3_ENST00000409420.1_Silent_p.F425F|CSRNP3_ENST00000342316.4_Silent_p.F393F	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	393					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GAGATGGCTTCGTGGAAGGTT	0.517000													39	33					0	0	1	0	0
CLDN5	7122	broad.mit.edu	37	22	19511427	19511427	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:19511427C>T	ENST00000406028.1	-	2	1667	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	CLDN5_ENST00000403084.1_Missense_Mutation_p.A203T|CLDN5_ENST00000413119.2_Missense_Mutation_p.A203T			O00501	CLD5_HUMAN	claudin 5	118					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					CCCGTGAGGGCCACACGCGCC	0.692000													11	13					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61888507	61888507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:61888507C>T	ENST00000578681.1	+	14	1973	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*	DDX42_ENST00000583590.1_Nonsense_Mutation_p.R458*|DDX42_ENST00000389924.2_Nonsense_Mutation_p.R458*|DDX42_ENST00000359353.5_Nonsense_Mutation_p.R339*|DDX42_ENST00000457800.2_Nonsense_Mutation_p.R458*	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	458	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CGACCCTATTCGAGTGGTGCA	0.403000													17	23					0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60299131	60299131	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:60299131G>A	ENST00000371208.3	+	5	585	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	HOOK1_ENST00000395561.2_Missense_Mutation_p.E68K|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	110	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					CCAAATAACCGAATGTTCAGA	0.378000													22	22					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27751496	27751496	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:27751496C>T	ENST00000261588.4	+	15	1897	c.1878C>T	c.(1876-1878)agC>agT	p.S626S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	626										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACGAGAAGAGCGAGCAACTAG	0.542000													35	79					0	0	1	0	0
CELP	1057	broad.mit.edu	37	9	135961718	135961718	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:135961718G>A	ENST00000411440.2	+	0	553					NR_001275.2																						GGTGGGGGCCGACCATAGAGA	0.602000													25	16					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151877154	151877154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:151877154G>A	ENST00000355193.2	-	37	7425	c.7207C>T	c.(7207-7209)Cga>Tga	p.R2403*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R2403*					lysine (K)-specific methyltransferase 2C																		TTCTCCTGTCGACCTGCAATC	0.498000													95	166					0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23830024	23830024	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:23830024G>T	ENST00000216733.3	-	2	644	c.37C>A	c.(37-39)Ctg>Atg	p.L13M	EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Intron	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	13	SH3.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		TTGTCATACAGTGCCCGGGCC	0.647000													19	23					1.50039e-11	1.7204e-11	1	1	0
PHKA1	5255	broad.mit.edu	37	X	71802425	71802425	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:71802425G>T	ENST00000373545.3	-	31	3633	c.3195C>A	c.(3193-3195)ttC>ttA	p.F1065L	PHKA1_ENST00000339490.3_Missense_Mutation_p.F1094L|PHKA1_ENST00000541944.1_Missense_Mutation_p.F1035L|PHKA1_ENST00000373542.4_Missense_Mutation_p.F1107L|PHKA1_ENST00000373539.3_Missense_Mutation_p.F1124L			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1107	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CATGAACAGAGAATTTAATCT	0.458000													15	1					1.3612e-06	1.45828e-06	1	1	0
FADS3	3995	broad.mit.edu	37	11	61643328	61643328	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:61643328G>A	ENST00000278829.2	-	11	1433	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	FADS3_ENST00000540820.1_3'UTR|FADS3_ENST00000527697.1_Silent_p.I312I|FADS3_ENST00000525588.1_Silent_p.I399I	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	427					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTCACCTGACGATGTCCACCA	0.652000													36	29					0	0	1	0	0
C16orf87	388272	broad.mit.edu	37	16	46836895	46836895	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:46836895C>A	ENST00000394806.2	-	3	263	c.251G>T	c.(250-252)aGa>aTa	p.R84I	C16orf87_ENST00000285697.4_Missense_Mutation_p.R145I			Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	145										large_intestine(4)|urinary_tract(1)	5						GATAATTTTTCTATTTATTTC	0.343000													22	25					8.04996e-18	1.00352e-17	1	1	0
FNBP4	23360	broad.mit.edu	37	11	47772520	47772520	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:47772520G>T	ENST00000263773.5	-	6	866	c.854C>A	c.(853-855)tCt>tAt	p.S285Y	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	285										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ACTGGAAACAGAAATCGTTTT	0.338000													24	33					1.96895e-08	2.16503e-08	1	1	0
TMEM101	84336	broad.mit.edu	37	17	42090507	42090507	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:42090507C>T	ENST00000589334.1	-	4	650	c.335G>A	c.(334-336)cGc>cAc	p.R112H	TMEM101_ENST00000206380.3_Missense_Mutation_p.R112H|TMEM101_ENST00000587529.1_Missense_Mutation_p.R112H|TMEM101_ENST00000542039.1_Missense_Mutation_p.R54H			Q96IK0	TM101_HUMAN	transmembrane protein 101	112					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGCAACTGTGCGCGAGTACAT	0.637000													18	17					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31927829	31927829	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:31927829G>A	ENST00000375394.2	+	3	282	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	SKIV2L_ENST00000544581.1_Intron|SKIV2L_ENST00000488648.1_3'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	57						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCTGCAGCAAGAAGCAGAACA	0.542000													24	40					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202524	39202524	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:39202524A>C	ENST00000351578.6	-	2	729	c.539T>G	c.(538-540)tTt>tGt	p.F180C	FYB_ENST00000515010.1_Missense_Mutation_p.F180C|FYB_ENST00000512982.1_Missense_Mutation_p.F180C|FYB_ENST00000505428.1_Missense_Mutation_p.F180C|FYB_ENST00000540520.1_Missense_Mutation_p.F190C	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	180					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGCTGACATAAATTTCCCTTT	0.502000													58	54					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56114213	56114213	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:56114213A>C	ENST00000279783.2	+	1	793	c.699A>C	c.(697-699)agA>agC	p.R233S		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CCATTCTCAGAATGAACTCAA	0.378000										HNSCC(65;0.19)			29	32					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142150387	142150387	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:142150387A>G	ENST00000378004.3	+	1	416	c.61A>G	c.(61-63)Acg>Gcg	p.T21A	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.T21A	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	21					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCCGAGAGACGCTCAAGTC	0.632000													22	26					0	0	1	0	0
FAM114A1	92689	broad.mit.edu	37	4	38880038	38880038	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:38880038G>T	ENST00000358869.2	+	3	515	c.339G>T	c.(337-339)caG>caT	p.Q113H	FAM114A1_ENST00000515037.1_Intron	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	113						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGCAAGAACAGAATTATCTGG	0.473000													33	44					1.414e-09	1.57957e-09	1	1	0
CRYM-AS1	400508	broad.mit.edu	37	16	21328291	21328291	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:21328291G>A	ENST00000444326.1	+	0	407																											CGGACCTTTCGATTTTGCTGC	0.423000													82	117					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328678	23328678	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:23328678C>T	ENST00000597761.2	+	4	1031	c.832C>T	c.(832-834)Cat>Tat	p.H278Y		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TAAAAGAATTCATACTGGAGA	0.348000													22	22					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22927466	22927466	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:22927466C>T	ENST00000166244.3	+	15	2686	c.2614C>T	c.(2614-2616)Ctc>Ttc	p.L872F		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	872	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCAGCTCATGCTCGACTGTTG	0.667000													41	59					0	0	1	0	0
ORC5	5001	broad.mit.edu	37	7	103841261	103841261	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:103841261C>T	ENST00000297431.4	-	3	453	c.311G>A	c.(310-312)cGc>cAc	p.R104H	ORC5_ENST00000447452.2_Missense_Mutation_p.R104H|ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000545943.1_5'UTR	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	104					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTTAAACAAGCGAACAAAGTC	0.299000													8	12					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436539	16436539	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:16436539T>G	ENST00000380672.4	-	6	1710	c.1653A>C	c.(1651-1653)caA>caC	p.Q551H	BNC2_ENST00000380667.2_Missense_Mutation_p.Q484H|BNC2_ENST00000380666.2_Missense_Mutation_p.Q551H|BNC2_ENST00000545497.1_Missense_Mutation_p.Q456H	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	551	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GGAGAGGATTTTGCAAGACAG	0.488000													52	44					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31647240	31647240	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:31647240C>T	ENST00000399332.1	-	3	849	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	HECTD1_ENST00000553700.1_Missense_Mutation_p.E121K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	121					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)		ACACACTGTTCGGCTAAGTCT	0.388000													30	51					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11162006	11162006	+	Missense_Mutation	SNP	G	G	A	rs144595028		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chrX:11162006G>A	ENST00000380718.1	-	11	3142	c.2270C>T	c.(2269-2271)tCg>tTg	p.S757L	ARHGAP6_ENST00000303025.6_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Intron	NM_006125.2	NP_006116.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	0					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGGGAGAGACGAAGAGAAGGT	0.537000											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	157					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20685493	20685493	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:20685493G>T	ENST00000404938.2	+	8	1445	c.793G>T	c.(793-795)Gaa>Taa	p.E265*		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	451	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CCAGGAGAAAGAACTTCAAAG	0.408000													55	71					3.28156e-27	4.43276e-27	1	1	0
ARHGAP26	23092	broad.mit.edu	37	5	142283103	142283103	+	Splice_Site	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:142283103A>C	ENST00000378004.3	+	8	1057		c.e8-1		ARHGAP26_ENST00000274498.4_Splice_Site	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTCATCCTAGACAAGAAAT	0.353000													19	38					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196728932	196728932	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:196728932G>A	ENST00000312428.6	-	41	7547	c.7447C>T	c.(7447-7449)Cgg>Tgg	p.R2483W		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2483	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGACGATTCCGAAATGCATCT	0.433000													25	6					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52216260	52216260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:52216260C>T	ENST00000282588.6	+	17	2712	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	752					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CATCACAGTTCGAAAATCAGA	0.378000													20	22					0	0	1	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172602403	172602403	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:172602403C>T	ENST00000534253.2	+	17	1937	c.1769C>T	c.(1768-1770)tCt>tTt	p.S590F	DYNC1I2_ENST00000409317.1_Missense_Mutation_p.S584F|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.S564F|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.S584F|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.S564F|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.S590F|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.S582F|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.S590F|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.S564F|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.S590F|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.S582F			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	590					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			GTGGGTGATTCTGAAGGACAG	0.448000													54	79					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53653105	53653105	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:53653105G>A	ENST00000262135.4	-	22	3301	c.3208C>T	c.(3208-3210)Cgg>Tgg	p.R1070W	RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R1150W|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R1116W|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R1104W	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1150					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.R1150W(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATCTCAATCCGAATTTTTTCT	0.338000													48	46					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96233609	96233609	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:96233609G>T	ENST00000277165.6	+	2	855	c.661G>T	c.(661-663)Gaa>Taa	p.E221*	FAM120A_ENST00000333936.5_Nonsense_Mutation_p.E221*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.E221*|FAM120A_ENST00000375389.3_Nonsense_Mutation_p.E221*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	221						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCTGATGCATGAAGTTGCCAA	0.443000													36	39					2.75727e-19	3.49775e-19	1	1	0
MAGOH	4116	broad.mit.edu	37	1	53694615	53694615	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:53694615G>A	ENST00000371470.3	-	4	431	c.270C>T	c.(268-270)atC>atT	p.I90I	MAGOH_ENST00000371466.4_Silent_p.I53I	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	90					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						CTCCAATGACGATTTCAAGCT	0.333000													19	30					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157488270	157488270	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:157488270T>C	ENST00000361835.3	-	15	2918	c.2761A>G	c.(2761-2763)Aat>Gat	p.N921D	FCRL5_ENST00000356953.4_Missense_Mutation_p.N921D|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	921						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)				TAAACCACATTTTCTCCTCTA	0.448000													48	53					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013469	99013469	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:99013469C>T	ENST00000393504.1	+	8	2253	c.1836C>T	c.(1834-1836)atC>atT	p.I612I	CNGA3_ENST00000436404.2_Silent_p.I594I|CNGA3_ENST00000272602.2_Silent_p.I612I|CNGA3_ENST00000409937.1_Silent_p.I616I	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	612					signal transduction|visual perception	integral to membrane	cGMP binding	p.I612I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACAACCTGATCGATGAGGAGC	0.607000													19	34					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131007604	131007604	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:131007604C>T	ENST00000307968.7	-	13	2448	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K	FNIP1_ENST00000307954.8_Missense_Mutation_p.E800K|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.E845K	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GTCCTGGTTTCGATTGAATCA	0.343000													33	46					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032528	30032528	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:30032528G>T	ENST00000328224.6	-	2	2931	c.1698C>A	c.(1696-1698)ttC>ttA	p.F566L		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	566						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CTCTGTGGTAGAAATAGTTAA	0.468000													24	39					2.21704e-12	2.5653e-12	1	1	0
C11orf24	53838	broad.mit.edu	37	11	68029192	68029192	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:68029192G>A	ENST00000304271.6	-	4	1673	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V	C11orf24_ENST00000533310.1_Splice_Site_p.A89V	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	424						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GCTCTCATAGGCCTGCAGGGC	0.557000													36	44					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125591545	125591545	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:125591545C>T	ENST00000504087.1	-	4	3924	c.2887G>A	c.(2887-2889)Gaa>Aaa	p.E963K	ANKRD50_ENST00000515641.1_Missense_Mutation_p.E784K	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	963										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AAAAAATATTCGGCCATTGTA	0.418000													28	31					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43777693	43777693	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:43777693G>T	ENST00000372476.3	+	11	1600	c.1521G>T	c.(1519-1521)atG>atT	p.M507I	TIE1_ENST00000433781.2_Missense_Mutation_p.M152I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	507	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGACGTTAATGAACCTGAGGC	0.597000													44	68					2.13384e-23	2.80497e-23	1	1	0
TMC5	79838	broad.mit.edu	37	16	19471642	19471642	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:19471642G>T	ENST00000396229.2	+	6	1883	c.1134G>T	c.(1132-1134)gaG>gaT	p.E378D	TMC5_ENST00000564959.1_Missense_Mutation_p.E40D|TMC5_ENST00000381414.4_Missense_Mutation_p.E378D|TMC5_ENST00000541464.1_Missense_Mutation_p.E378D|TMC5_ENST00000542583.2_Missense_Mutation_p.E378D|TMC5_ENST00000219821.5_Missense_Mutation_p.E132D|TMC5_ENST00000561503.1_Missense_Mutation_p.E19D	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	378						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCATGGAAGAGAAAAGGAACC	0.398000													25	17					1.77063e-15	2.14316e-15	1	1	0
MATN4	8785	broad.mit.edu	37	20	43926920	43926920	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:43926920G>A	ENST00000537548.1	-	8	1560	c.1316C>T	c.(1315-1317)gCg>gTg	p.A439V	MATN4_ENST00000353917.5_Missense_Mutation_p.A357V|MATN4_ENST00000342716.4_Missense_Mutation_p.A439V|MATN4_ENST00000372751.4_Missense_Mutation_p.A290V|MATN4_ENST00000372754.1_Missense_Mutation_p.A480V|MATN4_ENST00000372756.1_Missense_Mutation_p.A439V|MATN4_ENST00000360607.6_Missense_Mutation_p.A398V			O95460	MATN4_HUMAN	matrilin 4	480	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGCACCCTGCGCCTCGGAGAA	0.677000													47	48					0	0	1	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37305547	37305547	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:37305547C>T	ENST00000336755.5	+	5	893	c.787C>T	c.(787-789)Cgt>Tgt	p.R263C	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_5'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	263							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		ATAGAAAGTTCGTCGCTGCTT	0.408000													48	57					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178553052	178553052	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:178553052C>T	ENST00000251582.7	-	18	2798	c.2697G>A	c.(2695-2697)tcG>tcA	p.S899S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	899	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTTTGGGCTTCGAGAGGGCGG	0.642000													59	63					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133196584	133196584	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:133196584C>T	ENST00000388996.4	-	3	928	c.508G>A	c.(508-510)Gag>Aag	p.E170K	KCNQ3_ENST00000519445.1_Missense_Mutation_p.E170K|KCNQ3_ENST00000521134.1_Missense_Mutation_p.E50K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	170					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AAAGCAAACTCGGCTCCAAAG	0.512000													61	86					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45456599	45456599	+	Missense_Mutation	SNP	G	G	A	rs144068587	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:45456599G>A	ENST00000331493.2	+	14	1973	c.1562G>A	c.(1561-1563)cGa>cAa	p.R521Q	EFCAB13_ENST00000517484.1_Missense_Mutation_p.R425Q	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		GCCAAGGAGCGAAGTTTTCCT	0.363000													26	26					0	0	1	0	0
CENPO	79172	broad.mit.edu	37	2	25037316	25037316	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:25037316G>A	ENST00000380834.2	+	4	713	c.288G>A	c.(286-288)gaG>gaA	p.E96E	CENPO_ENST00000260662.1_Silent_p.E96E|CENPO_ENST00000473706.1_Silent_p.E90E			Q9BU64	CENPO_HUMAN	centromere protein O	96					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CATTGGAAGAGAAATTGGAAA	0.388000													42	41					0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39721990	39721990	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:39721990G>A	ENST00000280082.3	+	5	1805	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	145						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GAGAATTCACGAAGAAGTATA	0.378000													24	38					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17085323	17085323	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:17085323G>A	ENST00000455405.2	-	0	44																											CACAGTAGTCGAATGGGGTCC	0.602000													8	58					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120774725	120774725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:120774725G>A	ENST00000378164.2	-	19	2786	c.2488C>T	c.(2488-2490)Ctt>Ttt	p.L830F	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	830					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTTCTTCAAGAATGAGTCGC	0.363000													19	27					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15520469	15520469	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:15520469C>T	ENST00000341776.2	+	18	3972	c.3728C>T	c.(3727-3729)tCg>tTg	p.S1243L	JARID2_ENST00000397311.3_Missense_Mutation_p.S1071L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1243	Poly-Ser.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				aaaagtgcttcgagctcatca	0.463000													38	45					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970902	151970902	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:151970902C>A	ENST00000355193.2	-	7	1118	c.900G>T	c.(898-900)gaG>gaT	p.E300D	KMT2C_ENST00000262189.6_Missense_Mutation_p.E300D					lysine (K)-specific methyltransferase 2C																		GGGTACATTTCTCTTCACAGC	0.428000													7	155					0.000157383	0.000162881	1	1	0
TCEB3C	162699	broad.mit.edu	37	18	44554605	44554605	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:44554605G>A	ENST00000330682.2	-	1	1844	c.1609C>T	c.(1609-1611)Cga>Tga	p.R537*	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTGTAGTCTCGAATTGCCTTG	0.602000													18	464					0	0	1	0	0
PSMB2	5690	broad.mit.edu	37	1	36101916	36101916	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:36101916C>T	ENST00000373237.3	-	2	620	c.209G>A	c.(208-210)cGa>cAa	p.R70Q		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	70					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	CCCACCATTTCGCATCTTATA	0.388000													23	62					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10222207	10222207	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:10222207T>C	ENST00000418404.3	-	26	3801	c.3638A>G	c.(3637-3639)aAc>aGc	p.N1213S	MYH13_ENST00000252172.4_Missense_Mutation_p.N1213S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1213					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCGCTGCAGGTTGTCAATCTG	0.577000													55	67					0	0	1	0	0
DAPP1	27071	broad.mit.edu	37	4	100761453	100761453	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:100761453G>T	ENST00000296414.7	+	3	313	c.232G>T	c.(232-234)Gat>Tat	p.D78Y	DAPP1_ENST00000512369.1_Missense_Mutation_p.D78Y			Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	78	SH2.				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity	p.D78Y(1)		endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TAGGGCCAAAGATTCTGTTAA	0.279000													7	1					0.00198382	0.00202405	1	1	0
TRMT1L	81627	broad.mit.edu	37	1	185089291	185089291	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:185089291G>T	ENST00000367506.5	-	15	2330	c.2062C>A	c.(2062-2064)Ctt>Att	p.L688I	TRMT1L_ENST00000465827.1_5'UTR|TRMT1L_ENST00000367504.3_3'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	688						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TACTTTAAAAGGATAGATTTA	0.438000													76	84					1.15098e-32	1.58855e-32	1	1	0
ZNF429	353088	broad.mit.edu	37	19	21720523	21720523	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:21720523G>T	ENST00000358491.4	+	4	1876	c.1668G>T	c.(1666-1668)aaG>aaT	p.K556N	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CTCAACATAAGAAAATTCATA	0.358000													27	31					1.5548e-18	1.95606e-18	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81978898	81978898	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:81978898T>C	ENST00000356860.3	-	2	501	c.163A>G	c.(163-165)Aat>Gat	p.N55D	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.N55D|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.N55D	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	55						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ACAAGCTGATTGACTCCACTT	0.358000													49	55					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42711367	42711367	+	Missense_Mutation	SNP	A	A	G	rs45590635		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:42711367A>G	ENST00000230882.4	+	7	867	c.677A>G	c.(676-678)tAt>tGt	p.Y226C	GHR_ENST00000537449.1_Missense_Mutation_p.Y39C|GHR_ENST00000357703.3_Missense_Mutation_p.Y204C	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	226	Fibronectin type-III.		Y -> C (in LARS).		2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GATAAGGAATATGAAGTGCGT	0.393000													70	73					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112178776	112178776	+	Silent	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:112178776A>G	ENST00000457016.1	+	16	7865	c.7485A>G	c.(7483-7485)acA>acG	p.T2495T	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.T2495T|APC_ENST00000257430.4_Silent_p.T2495T			P25054	APC_HUMAN	adenomatous polyposis coli	2495	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTCTATCCACACATTCGTCTG	0.463000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			46	55					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478560	21478560	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:21478560G>A	ENST00000281523.2	-	5	1093	c.575C>T	c.(574-576)tCt>tTt	p.S192F	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	192	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGTCTCAGTAGAAGGACATGA	0.488000													7	148					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	14066321	14066321	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:14066321C>A	ENST00000217246.4	+	3	613	c.218C>A	c.(217-219)tCt>tAt	p.S73Y	MACROD2_ENST00000310348.4_Missense_Mutation_p.S73Y	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	73	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GAAAAAGTTTCTCTCTATAGA	0.308000													20	35					5.26018e-13	6.14379e-13	1	1	0
INSRR	3645	broad.mit.edu	37	1	156814378	156814378	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:156814378C>T	ENST00000368195.3	-	14	3009	c.2613G>A	c.(2611-2613)gcG>gcA	p.A871A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	871	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCCAAACTTCGCATATCGAA	0.597000													17	25					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091331	17091331	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:17091331G>A	ENST00000443236.1	-	14	1733	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	521						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTGTTAAACGAATCGGTTTC	0.592000													31	43					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834252	168834252	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:168834252A>C	ENST00000464456.1	-	7	2044	c.844T>G	c.(844-846)Ttt>Gtt	p.F282V	MECOM_ENST00000468789.1_Missense_Mutation_p.F282V|MECOM_ENST00000433243.2_Missense_Mutation_p.F283V|MECOM_ENST00000494292.1_Missense_Mutation_p.F470V|MECOM_ENST00000264674.3_Missense_Mutation_p.F347V|MECOM_ENST00000460814.1_Missense_Mutation_p.F282V|MECOM_ENST00000392736.3_Missense_Mutation_p.F282V|MECOM_ENST00000472280.1_Missense_Mutation_p.F283V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			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						TTGGCGCCAAAATAGTCAGCA	0.493000													42	59					0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899680	128899680	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:128899680C>T	ENST00000435159.2	+	2	489	c.489C>T	c.(487-489)gcC>gcT	p.A163A		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	163						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						ACCACGGCGCCGGGGAGAAGC	0.607000													11	11					0	0	1	0	0
MMD2	221938	broad.mit.edu	37	7	4949654	4949654	+	Splice_Site	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:4949654C>A	ENST00000404774.3	-	6	662		c.e6-1		MMD2_ENST00000401401.3_Intron|MMD2_ENST00000406755.1_Intron	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2							integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		GCTCCCTGTTCTTGGGGAAGA	0.552000													48	71					9.52127e-25	1.26311e-24	1	1	0
MAP3K12	7786	broad.mit.edu	37	12	53878053	53878053	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:53878053G>A	ENST00000267079.2	-	8	1362	c.1137C>T	c.(1135-1137)taC>taT	p.Y379Y	MAP3K12_ENST00000547488.1_Silent_p.Y412Y|MAP3K12_ENST00000547035.1_Silent_p.Y412Y	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	379					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGGACTTAAAGTAAGTCTCCT	0.493000													14	29					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587122	55587122	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:55587122G>T	ENST00000333976.4	+	1	37	c.17G>T	c.(16-18)aGa>aTa	p.R6I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTGACTGATAGAAATACAAGT	0.413000													23	25					3.6726e-16	4.49736e-16	1	1	0
ZNF284	342909	broad.mit.edu	37	19	44590183	44590183	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:44590183C>A	ENST00000421176.3	+	5	768	c.552C>A	c.(550-552)ttC>ttA	p.F184L	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GGAAGAGATTCTGTTATAGCT	0.378000													16	21					1.3612e-06	1.45828e-06	1	1	0
PRDM5	11107	broad.mit.edu	37	4	121616327	121616327	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:121616327A>C	ENST00000264808.3	-	16	2072	c.1832T>G	c.(1831-1833)tTt>tGt	p.F611C	PRDM5_ENST00000515109.1_3'UTR|PRDM5_ENST00000428209.2_Missense_Mutation_p.F580C|PRDM5_ENST00000506065.1_5'UTR	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	611					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATTCCTTGTAAACTTCTTATG	0.428000													33	36					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78359600	78359600	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:78359600G>T	ENST00000255189.3	-	2	140	c.112C>A	c.(112-114)Cca>Aca	p.P38T	DMGDH_ENST00000540686.1_5'UTR|DMGDH_ENST00000380311.4_5'UTR|DMGDH_ENST00000520388.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	38					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GATAAGGGTGGTTTTTCCTCT	0.463000													33	36					3.90053e-15	4.69772e-15	1	1	0
LOC101929006	101929006	broad.mit.edu	37	6	29231672	29231672	+	RNA	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:29231672C>A	ENST00000441381.1	+	0	143																											AGCCAGATTTCTAAGAAAGAA	0.388000													84	126					4.34595e-34	6.03095e-34	1	1	0
FXR1	8087	broad.mit.edu	37	3	180675669	180675669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:180675669C>T	ENST00000357559.4	+	10	1327	c.943C>T	c.(943-945)Cga>Tga	p.R315*	FXR1_ENST00000305586.7_Nonsense_Mutation_p.R230*|FXR1_ENST00000491062.1_Nonsense_Mutation_p.R266*|FXR1_ENST00000445140.2_Nonsense_Mutation_p.R315*|FXR1_ENST00000468861.1_Nonsense_Mutation_p.R230*|FXR1_ENST00000480918.1_Nonsense_Mutation_p.R302*	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	315					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TGGTGTGGTTCGAGTGAGAAT	0.323000													23	45					0	0	1	0	0
C21orf59	56683	broad.mit.edu	37	21	33974644	33974644	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr21:33974644T>G	ENST00000290155.3	-	6	1322	c.700A>C	c.(700-702)Att>Ctt	p.I234L	C21orf59_ENST00000382549.4_3'UTR|AP000275.65_ENST00000553001.1_Intron	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59	234						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						TCACTGCTAATAATAGGCTCT	0.512000													33	46					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890752	23890752	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:23890752G>T	ENST00000532292.1	-	1	423	c.329C>A	c.(328-330)tCa>tAa	p.S110*		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGTCATCAATGATTTAGCGGA	0.627000													12	12					6.40141e-05	6.67685e-05	1	1	0
CTGF	1490	broad.mit.edu	37	6	132270539	132270539	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:132270539G>T	ENST00000367976.3	-	5	1115	c.915C>A	c.(913-915)ttC>ttA	p.F305L		NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	305	CTCK.|Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CAGGGCACTTGAACTCCACCG	0.537000													92	110					5.00475e-40	7.03302e-40	1	1	0
LHPP	64077	broad.mit.edu	37	10	126205772	126205772	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:126205772C>A	ENST00000368842.5	+	6	676	c.648C>A	c.(646-648)atC>atA	p.I216I	LHPP_ENST00000368839.1_Intron	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	216					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GGGACGATATCGTGGGCGACG	0.547000													12	19					1.41608e-15	1.71635e-15	1	1	0
PPIP5K2	23262	broad.mit.edu	37	5	102520410	102520410	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:102520410G>T	ENST00000321521.9	+	26	3707	c.3134G>T	c.(3133-3135)aGa>aTa	p.R1045I	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.R1045I|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.R1045I|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1045					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGAACACCAAGAACTCTTGTG	0.343000													16	17					2.31682e-05	2.43029e-05	1	1	0
BPTF	2186	broad.mit.edu	37	17	65870932	65870932	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:65870932G>T	ENST00000321892.4	+	4	1721		c.e4-1		BPTF_ENST00000424123.3_Splice_Site|BPTF_ENST00000306378.6_Splice_Site|BPTF_ENST00000335221.5_Splice_Site			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor						brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACACATTATAGAAGAAATTTT	0.308000													22	30					7.41877e-09	8.19551e-09	1	1	0
FGD6	55785	broad.mit.edu	37	12	95531306	95531306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:95531306C>T	ENST00000343958.4	-	7	3209	c.2986G>A	c.(2986-2988)Gaa>Aaa	p.E996K	FGD6_ENST00000549499.1_Missense_Mutation_p.E996K|FGD6_ENST00000546711.1_Missense_Mutation_p.E996K	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	996	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ACCTCAAATTCTCTAACAACA	0.328000													41	48					0	0	1	0	0
SSB	6741	broad.mit.edu	37	2	170666805	170666805	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:170666805G>T	ENST00000409333.1	+	9	929	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	SSB_ENST00000260956.4_Nonsense_Mutation_p.E228*|METTL5_ENST00000409837.1_3'UTR			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	228					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATCTCTAGAAGAAAAGATTGG	0.318000													7	15					0.0293803	0.0296024	1	1	0
DHX34	9704	broad.mit.edu	37	19	47883016	47883016	+	Missense_Mutation	SNP	G	G	A	rs140449776	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:47883016G>A	ENST00000328771.4	+	14	3105	c.2756G>A	c.(2755-2757)cGc>cAc	p.R919H		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	919						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GACTGCTCCCGCCTGGTGGCC	0.632000													73	91					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38158718	38158718	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:38158718G>T	ENST00000308059.6	+	31	4346	c.4325G>T	c.(4324-4326)gGg>gTg	p.G1442V	DLEC1_ENST00000452631.2_Missense_Mutation_p.G1445V|DLEC1_ENST00000346219.3_Missense_Mutation_p.G1442V			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1442				G -> R (in Ref. 1; BAA77624/BAA77247).	negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAGATTCCAGGGAAGAGGCAT	0.607000													30	19					2.65835e-16	3.26132e-16	1	1	0
KCNMB4	27345	broad.mit.edu	37	12	70794098	70794098	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:70794098A>G	ENST00000258111.4	+	2	905	c.446A>G	c.(445-447)tAt>tGt	p.Y149C		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	149					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TTTACTTGCTATTTTAATCAA	0.368000													70	90					0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84517940	84517940	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:84517940G>A	ENST00000331369.5	+	0	134																											CTAGCTCACCGAAATGGCCGC	0.597000													13	15					0	0	1	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973747	46973747	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:46973747G>A	ENST00000313683.10	-	2	851	c.546C>T	c.(544-546)ttC>ttT	p.F182F	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Silent_p.F182F	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	182										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCATCTCCTCGAATTCAGCGG	0.612000													59	87					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413936	121413936	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:121413936T>C	ENST00000393667.3	-	13	5544	c.5434A>G	c.(5434-5436)Aca>Gca	p.T1812A	GOLGB1_ENST00000340645.5_Missense_Mutation_p.T1807A	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1807					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTAGGTCTTGTGCTCATACTC	0.443000													89	85					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35559236	35559236	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:35559236G>A	ENST00000455600.1	+	9	3924	c.3355G>A	c.(3355-3357)Gag>Aag	p.E1119K		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1119	RUN.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGTCCCTGGAGTTCTGGTT	0.488000													43	46					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25616509	25616509	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:25616509A>C	ENST00000399380.3	-	1	40	c.4T>G	c.(4-6)Ttt>Gtt	p.F2V	CDH2_ENST00000269141.3_Intron			P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	0					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTAATAAAAACATGCCATCA	0.338000													46	67					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108158372	108158372	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:108158372T>G	ENST00000278616.4	+	27	4424	c.4039T>G	c.(4039-4041)Tta>Gta	p.L1347V	ATM_ENST00000452508.2_Missense_Mutation_p.L1347V	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1347					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTGGTGGAGTTATTGATGAC	0.353000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			27	33					0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47501381	47501381	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:47501381T>C	ENST00000359314.5	+	3	665	c.209T>C	c.(208-210)aTc>aCc	p.I70T		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	70	Interaction with ANLN and localization to the midbody.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGTTTGCCCATCAAACGGGAA	0.373000													19	23					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97594718	97594718	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:97594718T>G	ENST00000275053.4	-	25	3961	c.3696A>C	c.(3694-3696)caA>caC	p.Q1232H	MMS22L_ENST00000369251.2_Missense_Mutation_p.Q1192H	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1232					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCATCTCATCTTGTCCCATCT	0.308000													35	34					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102570673	102570673	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:102570673A>G	ENST00000251808.3	+	4	649	c.311A>G	c.(310-312)cAg>cGg	p.Q104R	GRHL2_ENST00000395927.1_Missense_Mutation_p.Q88R	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	104						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGTGAAGCCCAGAGTAATTTG	0.453000													57	70					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396791	197396791	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:197396791C>T	ENST00000367397.1	+	3	1337	c.479C>T	c.(478-480)tCt>tTt	p.S160F	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.S667F|CRB1_ENST00000544212.1_Missense_Mutation_p.S260F|CRB1_ENST00000535699.1_Missense_Mutation_p.S710F|CRB1_ENST00000367400.3_Missense_Mutation_p.S779F|CRB1_ENST00000543483.1_3'UTR			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	779	EGF-like 4; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACTCCAAACTCTCCCAAATTA	0.378000													16	22					0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6755165	6755165	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:6755165C>T	ENST00000245908.6	-	5	927	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	SH2D3A_ENST00000437152.3_Missense_Mutation_p.E98K|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	220					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TCAGGCAGTTCGAAGGAGGGT	0.662000													139	158					0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50598196	50598196	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:50598196T>G	ENST00000374139.2	-	3	227	c.217A>C	c.(217-219)Aca>Cca	p.T73P	DRGX_ENST00000434016.1_Missense_Mutation_p.T78P			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	78					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CTGGCTTCTGTGAGGTTTATT	0.398000													11	9					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58489765	58489765	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:58489765C>A	ENST00000341164.4	-	7	2903	c.2283G>T	c.(2281-2283)gaG>gaT	p.E761D	ZNF606_ENST00000536132.1_Missense_Mutation_p.E671D	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	761					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TAAAGCGTTTCTCTCCACTAT	0.368000													62	54					1.27334e-21	1.64983e-21	1	1	0
FIGLA	344018	broad.mit.edu	37	2	71014816	71014816	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:71014816G>T	ENST00000332372.6	-	2	353	c.349C>A	c.(349-351)Ctc>Atc	p.L117I		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	117	Helix-loop-helix motif.				multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding			endometrium(2)|lung(3)	5						AGATCACTGAGAACCTGTATA	0.408000													5	5					0.217242	0.217569	1	1	0
C11orf30	56946	broad.mit.edu	37	11	76158035	76158035	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:76158035G>T	ENST00000529032.1	+	1	53	c.53G>T	c.(52-54)aGa>aTa	p.R18I	C11orf30_ENST00000525038.1_Missense_Mutation_p.R18I|C11orf30_ENST00000525959.1_3'UTR|C11orf30_ENST00000334736.3_Missense_Mutation_p.R18I|C11orf30_ENST00000533988.1_Missense_Mutation_p.R18I|C11orf30_ENST00000343878.3_Missense_Mutation_p.R18I|C11orf30_ENST00000525919.1_Missense_Mutation_p.R18I|C11orf30_ENST00000533248.1_Missense_Mutation_p.R18I|C11orf30_ENST00000524490.1_Missense_Mutation_p.R18I|C11orf30_ENST00000524767.1_Missense_Mutation_p.R18I			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	18	ENT.|Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R18I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GAATGCAAAAGAATTCTTCGA	0.448000													29	30					5.45727e-16	6.66902e-16	1	1	0
RASGRP1	10125	broad.mit.edu	37	15	38786627	38786627	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:38786627C>T	ENST00000310803.5	-	16	2392	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	RASGRP1_ENST00000450598.2_Missense_Mutation_p.E704K|RASGRP1_ENST00000539159.1_Missense_Mutation_p.E691K|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000561180.1_Missense_Mutation_p.E790K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	739	PT region; mediates the BCR-dependent translocation to plasma membrane (By similarity).				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGACGGAGCTCCTCCTTTGAT	0.478000													12	23					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56386157	56386157	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:56386157G>A	ENST00000423270.1	-	9	3768	c.3769C>T	c.(3769-3771)Ctt>Ttt	p.L1257F	RFX7_ENST00000559447.2_Missense_Mutation_p.L1160F|RFX7_ENST00000317318.6_Missense_Mutation_p.L1257F|RFX7_ENST00000422057.1_Missense_Mutation_p.L1160F	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1160					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCGGAATCAAGTTTACTCAAC	0.418000													31	42					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179403519	179403519	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:179403519C>A	ENST00000589042.1	-	354	99261	c.99037G>T	c.(99037-99039)Gat>Tat	p.D33013Y	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D23948Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D24140Y|TTN_ENST00000359218.5_Missense_Mutation_p.D24073Y|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D30445Y|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D31372Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31372							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)			GTGACACTATCTTTGGATATT	0.373000													42	79					4.92203e-23	6.45736e-23	1	1	0
NFATC1	4772	broad.mit.edu	37	18	77227454	77227454	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr18:77227454C>A	ENST00000253506.5	+	8	2333	c.1964C>A	c.(1963-1965)tCt>tAt	p.S655Y	NFATC1_ENST00000427363.2_Missense_Mutation_p.S655Y|NFATC1_ENST00000397790.2_Missense_Mutation_p.S183Y|NFATC1_ENST00000318065.5_Missense_Mutation_p.S642Y|NFATC1_ENST00000545796.1_Missense_Mutation_p.S183Y|NFATC1_ENST00000592223.1_Missense_Mutation_p.S642Y|NFATC1_ENST00000542384.1_Missense_Mutation_p.S655Y|NFATC1_ENST00000586434.1_Missense_Mutation_p.S642Y|NFATC1_ENST00000591814.1_Missense_Mutation_p.S655Y|NFATC1_ENST00000329101.4_Missense_Mutation_p.S642Y|NFATC1_ENST00000587635.1_Missense_Mutation_p.L627I	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	655					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTGTAGAATTCTCTGGTGGTT	0.602000													23	44					3.5997e-14	4.2784e-14	1	1	0
ABCB4	5244	broad.mit.edu	37	7	87069069	87069069	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:87069069G>A	ENST00000265723.4	-	14	1756	c.1645C>T	c.(1645-1647)Cgc>Tgc	p.R549C	ABCB4_ENST00000359206.3_Missense_Mutation_p.R549C|ABCB4_ENST00000545634.1_Missense_Mutation_p.R549C|ABCB4_ENST00000453593.1_Missense_Mutation_p.R549C|ABCB4_ENST00000358400.3_Missense_Mutation_p.R549C	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	549	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTGGGGTTGCGAACCAGGGCA	0.532000													43	53					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25362828	25362828	+	Missense_Mutation	SNP	G	G	T	rs104894362		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:25362828G>T	ENST00000311936.3	-	5	659	c.468C>A	c.(466-468)ttC>ttA	p.F156L	KRAS_ENST00000557334.1_Missense_Mutation_p.F43L|KRAS_ENST00000256078.4_3'UTR	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	156					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTAATGTATAGAAGGCATCAT	0.284000		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			21	18					1.22574e-08	1.35143e-08	1	1	0
ZNF728	388523	broad.mit.edu	37	19	23159480	23159480	+	Missense_Mutation	SNP	C	C	A	rs144353074	by1000genomes	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:23159480C>A	ENST00000594710.1	-	4	804	c.659G>T	c.(658-660)aGa>aTa	p.R220I		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		AGTATGAATTCTCTTATAAGT	0.373000													21	18					9.95505e-16	1.21017e-15	1	1	0
MYH2	4620	broad.mit.edu	37	17	10448802	10448802	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:10448802G>T	ENST00000245503.5	-	5	750	c.366C>A	c.(364-366)ttC>ttA	p.F122L	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.F122L|MYH2_ENST00000532183.2_Missense_Mutation_p.F122L	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	122	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.F122F(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGTGACACAGAAGAGACCTG	0.453000													48	61					7.88023e-25	1.04645e-24	1	1	0
ZNF442	79973	broad.mit.edu	37	19	12460983	12460983	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:12460983G>T	ENST00000242804.4	-	6	1998	c.1416C>A	c.(1414-1416)ttC>ttA	p.F472L	ZNF442_ENST00000438182.1_Missense_Mutation_p.F403L	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F472L(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						GAAAGGAATAGAAATCAATAA	0.383000													37	43					9.04072e-19	1.13981e-18	1	1	0
GPR107	57720	broad.mit.edu	37	9	132869789	132869789	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:132869789T>C	ENST00000372406.1	+	14	1784	c.1277T>C	c.(1276-1278)tTa>tCa	p.L426S	GPR107_ENST00000372410.3_Missense_Mutation_p.L426S|GPR107_ENST00000347136.6_Missense_Mutation_p.L426S	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	426						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				ATCAGACATTTACAAGAAGCA	0.433000											OREG0019542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	21					0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28045339	28045339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr11:28045339G>A	ENST00000263181.6	-	16	2853	c.2563C>T	c.(2563-2565)Cga>Tga	p.R855*		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	855					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTATCTTGTCGAACACGTTTG	0.323000													11	13					0	0	1	0	0
MTMR6	9107	broad.mit.edu	37	13	25823574	25823574	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:25823574T>C	ENST00000381801.5	-	14	2423	c.1662A>G	c.(1660-1662)ttA>ttG	p.L554L	MTMR6_ENST00000540661.1_Intron	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	554						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GAACTGAATGTAACAATTCCT	0.368000													28	32					0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58146045	58146045	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:58146045T>C	ENST00000544273.1	+	4	502	c.175T>C	c.(175-177)Tgg>Cgg	p.W59R	ZNF211_ENST00000391703.3_5'UTR|ZNF211_ENST00000420680.1_Missense_Mutation_p.W51R|ZNF211_ENST00000541801.1_5'UTR|ZNF211_ENST00000347302.3_Missense_Mutation_p.W47R|ZNF211_ENST00000299871.5_Missense_Mutation_p.W60R|ZNF211_ENST00000254182.7_5'UTR|ZNF211_ENST00000240731.4_Missense_Mutation_p.W60R			Q13398	ZN211_HUMAN	zinc finger protein 211	47	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTGGGAGGAATGGGATCTCCT	0.483000													62	67					0	0	1	0	0
TOMM70A	9868	broad.mit.edu	37	3	100096563	100096563	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:100096563C>A	ENST00000284320.5	-	6	1526	c.1078G>T	c.(1078-1080)Gaa>Taa	p.E360*		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	360					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						ACATTAGCTTCTTTCAAACTG	0.353000													33	55					1.22384e-17	1.52209e-17	1	1	0
GABRB3	2562	broad.mit.edu	37	15	26812832	26812832	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:26812832C>T	ENST00000541819.2	-	8	1001	c.899G>A	c.(898-900)gGa>gAa	p.G300E	GABRB3_ENST00000545868.1_Missense_Mutation_p.G159E|GABRB3_ENST00000299267.4_Missense_Mutation_p.G244E|GABRB3_ENST00000311550.5_Missense_Mutation_p.G244E|GABRB3_ENST00000400188.3_Missense_Mutation_p.G173E			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	244					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AATGAAGTATCCAATGTTCCT	0.438000													31	43					0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43465669	43465669	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:43465669C>A	ENST00000331018.7	-	4	535	c.295G>T	c.(295-297)Gat>Tat	p.D99Y	TTLL1_ENST00000266254.7_Missense_Mutation_p.D99Y			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	99	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	p.D99N(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CCATTTTCATCTTTTTCTGCC	0.468000													78	100					2.96794e-49	4.22532e-49	1	1	0
KIAA0226L	80183	broad.mit.edu	37	13	46924293	46924293	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr13:46924293G>A	ENST00000429979.1	-	11	2128	c.1524C>T	c.(1522-1524)atC>atT	p.I508I	KIAA0226L_ENST00000378784.4_Silent_p.I441I|KIAA0226L_ENST00000534925.1_Silent_p.I373I|KIAA0226L_ENST00000378797.2_Silent_p.I508I|KIAA0226L_ENST00000378787.3_Silent_p.I508I|KIAA0226L_ENST00000409879.2_Silent_p.I351I|KIAA0226L_ENST00000389908.3_Silent_p.I508I|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000322896.6_Silent_p.I351I	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	508										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GGCTTTGGCCGATGCTCAGCA	0.522000													4	1					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9515734	9515734	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:9515734T>C	ENST00000352665.5	+	8	1032	c.963T>C	c.(961-963)gaT>gaC	p.D321D	WDR16_ENST00000299764.5_Silent_p.D331D|WDR16_ENST00000396219.3_Silent_p.D253D	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	321						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GCTTCACGGATTTCAAAGAGA	0.428000													33	33					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193082012	193082012	+	Missense_Mutation	SNP	C	C	T	rs146780815	byFrequency	TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:193082012C>T	ENST00000342358.4	-	2	238	c.121G>A	c.(121-123)Gtg>Atg	p.V41M		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	41					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGGTCAGCACGGATGCGACA	0.512000													108	146					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72425082	72425082	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:72425082G>A	ENST00000333850.3	+	10	1350	c.1209G>A	c.(1207-1209)aaG>aaA	p.K403K		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	403					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TTGACCCAAAGACAACTTGCT	0.413000													42	50					0	0	1	0	0
SERINC4	619189	broad.mit.edu	37	15	44087639	44087639	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:44087639G>A	ENST00000299969.6	-	9	1212	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|SERINC4_ENST00000249714.3_Silent_p.F186F|SERF2_ENST00000594896.1_Intron|RP11-296A16.1_ENST00000417761.2_3'UTR|SERINC4_ENST00000319327.6_Silent_p.F430F			A6NH21	SERC4_HUMAN	serine incorporator 4	0					phospholipid biosynthetic process	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		GGAAGAAGACGAAGTGGAAGG	0.517000													37	61					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49937726	49937726	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:49937726C>T	ENST00000257981.6	+	6	1112	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	284					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GTACCACATTCGTGTCCAAGT	0.597000													52	55					0	0	1	0	0
CA4	762	broad.mit.edu	37	17	58236632	58236632	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:58236632G>A	ENST00000300900.4	+	8	885	c.786G>A	c.(784-786)caG>caA	p.Q262Q		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	262					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	ACAAGGAACAGACAGTGAGCA	0.647000													8	4					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763562	110763562	+	Silent	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:110763562C>T	ENST00000368919.3	-	4	1134	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	SLC22A16_ENST00000439654.1_Silent_p.T356T|SLC22A16_ENST00000330550.4_Silent_p.T322T	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	356					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GTGTCCTTTTCGTAATGCTCC	0.393000													51	49					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38835198	38835198	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:38835198A>C	ENST00000310301.4	-	9	638	c.584T>G	c.(583-585)tTt>tGt	p.F195C	VPS41_ENST00000395969.2_Missense_Mutation_p.F170C|VPS41_ENST00000466017.1_5'UTR	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	195					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GATGATGTCAAAAATCTTCAC	0.438000													30	29					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099788	168099788	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:168099788T>G	ENST00000409195.1	+	9	1975	c.1886T>G	c.(1885-1887)cTt>cGt	p.L629R	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L407R|XIRP2_ENST00000295237.9_Missense_Mutation_p.L629R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	454					actin cytoskeleton organization	cell junction	actin binding			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						ATCGACACACTTGGGGCTTAT	0.453000													24	34					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44951728	44951728	+	Missense_Mutation	SNP	G	G	A	rs150539887		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:44951728G>A	ENST00000296125.4	+	11	1542	c.1474G>A	c.(1474-1476)Gtg>Atg	p.V492M		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	492					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TAATTTCACCGTGATTCTTAA	0.448000													7	92					0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44652018	44652018	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr4:44652018G>T	ENST00000415895.4	-	2	175	c.100C>A	c.(100-102)Ctt>Att	p.L34I	YIPF7_ENST00000332990.5_Missense_Mutation_p.L58I			Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7							endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GATCCATAAAGATTTCCATAG	0.303000													5	2					0.00116845	0.00119626	1	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64148736	64148736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:64148736G>A	ENST00000295902.6	-	3	799	c.214C>T	c.(214-216)Cga>Tga	p.R72*	PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R128*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	72	PET.					cytoplasm|nuclear membrane	zinc ion binding	p.R72*(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGCTTGATTCGCAGTTTCTCT	0.463000													106	105					0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118394392	118394392	+	RNA	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:118394392C>T	ENST00000537242.1	+	0	884				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TAAGAAGCTTCGAGTATTACT	0.493000													17	26					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54803106	54803106	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:54803106G>A	ENST00000391745.1	-	8	938	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.R191C					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACCACCTGCGACTTGGGCTC	0.582000													84	77					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35453255	35453255	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:35453255T>G	ENST00000357182.4	-	16	3655	c.3428A>C	c.(3427-3429)aAa>aCa	p.K1143T	ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1143					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				tacatcaattttattacacaa	0.299000													7	4					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038858	75038858	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:75038858C>A	ENST00000326665.5	-	14	2754	c.2536G>T	c.(2536-2538)Gaa>Taa	p.E846*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	846	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						CTGACCCCTTCTGCTTCTGCT	0.537000													55	79					4.6707e-30	6.38852e-30	1	1	0
MED27	9442	broad.mit.edu	37	9	134735934	134735934	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr9:134735934G>A	ENST00000292035.5	-	8	990	c.927C>T	c.(925-927)tgC>tgT	p.C309C	MED27_ENST00000357028.2_Silent_p.C273C	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	309					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		GCTACTGCCGGCAGGTGTCAT	0.657000													5	5					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49423908	49423908	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:49423908T>C	ENST00000274813.3	-	4	923	c.796A>G	c.(796-798)Atg>Gtg	p.M266V		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	266					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			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)	GCTTCCTGCATATGGTATCCA	0.373000													25	26					0	0	1	0	0
MRAS	22808	broad.mit.edu	37	3	138117333	138117333	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:138117333G>A	ENST00000289104.4	+	4	1017	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	MRAS_ENST00000474559.1_Missense_Mutation_p.V124M|MRAS_ENST00000423968.2_Missense_Mutation_p.V124M|MRAS_ENST00000464896.1_Missense_Mutation_p.V48M	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	124					actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						GATGATCCTCGTGGCCAACAA	0.502000													36	42					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55496503	55496503	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:55496503A>G	ENST00000543010.1	+	7	2262	c.2119A>G	c.(2119-2121)Aat>Gat	p.N707D	NLRP2_ENST00000537859.1_Missense_Mutation_p.N685D|NLRP2_ENST00000448584.2_Missense_Mutation_p.N707D|NLRP2_ENST00000538819.1_Missense_Mutation_p.N683D|NLRP2_ENST00000391721.4_Missense_Mutation_p.N683D|NLRP2_ENST00000339757.7_Missense_Mutation_p.N685D|NLRP2_ENST00000427260.2_Missense_Mutation_p.N684D|NLRP2_ENST00000263437.6_Missense_Mutation_p.N704D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	707					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCTAGCAATCAATGATAGCTT	0.438000													54	59					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45005249	45005249	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:45005249C>T	ENST00000258787.7	-	17	2504	c.2368G>A	c.(2368-2370)Gca>Aca	p.A790T		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	790						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CAGAAGAGTGCGTGGCAGGTG	0.617000													31	42					0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458674	20458674	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:20458674G>T	ENST00000426804.1	-	1	3112	c.2628C>A	c.(2626-2628)ttC>ttA	p.F876L		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CCCCCTCATAGAAGCCATCCT	0.587000													6	26					0.00116845	0.00119626	1	1	0
CEACAM5	1048	broad.mit.edu	37	19	42222297	42222297	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:42222297C>A	ENST00000221992.6	+	6	1602	c.1488C>A	c.(1486-1488)gtC>gtA	p.V496V	CEACAM5_ENST00000405816.1_Silent_p.V496V|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.V495V	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	496	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAATCACAGTCTCTGGTAAGT	0.468000													36	41					7.53189e-24	9.94001e-24	1	1	0
SLC7A2	6542	broad.mit.edu	37	8	17402085	17402085	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:17402085T>G	ENST00000470360.1	+	5	739	c.622T>G	c.(622-624)Ttt>Gtt	p.F208V	SLC7A2_ENST00000494857.1_Missense_Mutation_p.F168V|SLC7A2_ENST00000398090.3_Missense_Mutation_p.F208V|SLC7A2_ENST00000522656.1_Missense_Mutation_p.F168V|SLC7A2_ENST00000004531.10_Missense_Mutation_p.F208V			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	168					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TCCCGATTTTTTTGCTGTGTG	0.388000													16	24					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7325916	7325916	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:7325916C>T	ENST00000361972.4	-	6	812	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R241Q	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	241					regulation of transcription, DNA-dependent	nucleus		p.R241Q(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACCAACTGGTCGAAGTCTGTA	0.418000													43	51					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58576360	58576360	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:58576360C>T	ENST00000317147.5	-	32	4879	c.4547G>A	c.(4546-4548)gGc>gAc	p.G1516D	CNOT1_ENST00000569240.1_Missense_Mutation_p.G1511D|CNOT1_ENST00000245138.4_Missense_Mutation_p.G367D	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1516					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CATCTCAGGGCCTGCTTTTTC	0.383000													103	143					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131522044	131522044	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:131522044C>T	ENST00000423981.1	+	2	2509	c.2399C>T	c.(2398-2400)gCt>gTt	p.A800V	AMER3_ENST00000321420.4_Missense_Mutation_p.A800V	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		TCAGCCCCTGCTGCCCGGTGG	0.662000													9	8					0	0	1	0	0
MARCKSL1	65108	broad.mit.edu	37	1	32800393	32800393	+	Silent	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:32800393G>A	ENST00000329421.7	-	2	738	c.393C>T	c.(391-393)atC>atT	p.I131I		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	131						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGCAGGCACCGATCTCCCCCT	0.627000													23	26					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767552	77767552	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:77767552G>A	ENST00000521891.2	+	10	8843	c.8395G>A	c.(8395-8397)Gat>Aat	p.D2799N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2773N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2754N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2754N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2754						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D2783Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATAAAACCGATTTTGATGA	0.443000										HNSCC(33;0.089)			17	26					0	0	1	0	0
ING3	54556	broad.mit.edu	37	7	120614878	120614878	+	Silent	SNP	A	A	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr7:120614878A>C	ENST00000315870.5	+	12	1385	c.1237A>C	c.(1237-1239)Aga>Cga	p.R413R	ING3_ENST00000431467.1_Silent_p.R398R	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	413					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					AATGAAGAGAAGAGGCAGCAG	0.408000													16	25					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904252	5904252	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:5904252G>A	ENST00000378961.4	+	4	1666	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	488						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GCAGCAGGGAGACCTGCAGGA	0.498000													55	64					0	0	1	0	0
ZRANB1	54764	broad.mit.edu	37	10	126673497	126673497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr10:126673497G>A	ENST00000359653.4	+	9	2434	c.2063G>A	c.(2062-2064)cGa>cAa	p.R688Q		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	688					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GACCGCTACCGACAGATCCGG	0.507000													17	28					0	0	1	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435745	104435745	+	RNA	SNP	G	G	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:104435745G>A	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							TGACTTCATCGAAACCATTGG	0.413000													7	12					0	0	1	0	0
NQO2	4835	broad.mit.edu	37	6	3012793	3012793	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:3012793C>A	ENST00000338130.2	+	7	900	c.188C>A	c.(187-189)cCt>cAt	p.P63H	NQO2_ENST00000380430.1_Missense_Mutation_p.P63H|NQO2_ENST00000380441.1_Missense_Mutation_p.P63H|NQO2_ENST00000380455.4_Missense_Mutation_p.P63H|NQO2_ENST00000380454.4_Missense_Mutation_p.P63H			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	63						cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	CTTTCTAATCCTGAGGTTTTC	0.512000													35	25					5.8336e-16	7.11913e-16	1	1	0
CDH18	1016	broad.mit.edu	37	5	19571703	19571703	+	Missense_Mutation	SNP	G	G	T	rs17856908		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:19571703G>T	ENST00000507958.1	-	10	2228	c.1238C>A	c.(1237-1239)aCt>aAt	p.T413N	CDH18_ENST00000506372.1_Missense_Mutation_p.T413N|CDH18_ENST00000274170.4_Missense_Mutation_p.T413N|CDH18_ENST00000511273.1_Missense_Mutation_p.T413N|CDH18_ENST00000382275.1_Missense_Mutation_p.T413N|CDH18_ENST00000502796.1_Missense_Mutation_p.T413N			Q13634	CAD18_HUMAN	cadherin 18, type 2	413	Cadherin 4.			T -> I (in Ref. 4; AAH31051).	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAAGCTGTTAGTACTGTCAGG	0.378000													36	44					4.65686e-17	5.75685e-17	1	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72152124	72152124	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:72152124G>T	ENST00000555818.1	+	10	3498	c.3150G>T	c.(3148-3150)atG>atT	p.M1050I	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.M1050I|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.M1050I|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.M525I	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1050					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGTACAAAATGAATGAAGGTG	0.478000													16	157					3.32936e-07	3.60079e-07	1	1	0
ASXL2	55252	broad.mit.edu	37	2	25982510	25982510	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:25982510T>G	ENST00000435504.4	-	9	1073	c.780A>C	c.(778-780)caA>caC	p.Q260H	ASXL2_ENST00000336112.4_Missense_Mutation_p.Q232H|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000404843.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTTTTCATTTGTCCTACAA	0.393000													43	51					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81199146	81199146	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:81199146C>A	ENST00000394685.3	+	13	1973	c.1554C>A	c.(1552-1554)ttC>ttA	p.F518L	RP11-351M8.2_ENST00000560873.1_RNA|RP11-351M8.1_ENST00000560560.1_Intron|KIAA1199_ENST00000220244.3_Missense_Mutation_p.F518L|KIAA1199_ENST00000356249.5_Missense_Mutation_p.F518L			Q8WUJ3	K1199_HUMAN	KIAA1199	518										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCTGCAATTTCTTTGACTTCG	0.512000													14	19					4.3838e-07	4.73159e-07	1	1	0
UBA5	79876	broad.mit.edu	37	3	132390938	132390938	+	Silent	SNP	T	T	C			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:132390938T>C	ENST00000356232.4	+	8	1801	c.729T>C	c.(727-729)acT>acC	p.T243T	UBA5_ENST00000493720.2_Silent_p.T243T|UBA5_ENST00000494238.2_Silent_p.T187T|UBA5_ENST00000473651.1_Silent_p.T243T|UBA5_ENST00000264991.4_Silent_p.T187T	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	243					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATGAAAAGACTCTGAAACGAG	0.383000													5	28					0	0	1	0	0
UBE2V1	7335	broad.mit.edu	37	20	48732032	48732032	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:48732032A>G	ENST00000415862.2	-	1	459	c.29T>C	c.(28-30)tTc>tCc	p.F10S	TMEM189_ENST00000557021.1_Intron|UBE2V1_ENST00000340309.3_Silent_p.F27F|TMEM189-UBE2V1_ENST00000341698.2_Intron|UBE2V1_ENST00000420027.2_Missense_Mutation_p.F10S|UBE2V1_ENST00000371677.3_Silent_p.F27F	NM_001257394.1	NP_001244323.1			ubiquitin-conjugating enzyme E2 variant 1											endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			ctttgcagtgaaattttctag	0.468000													16	16					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26771620	26771620	+	Silent	SNP	C	C	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr22:26771620C>A	ENST00000529632.2	+	14	3070	c.2874C>A	c.(2872-2874)tcC>tcA	p.S958S	SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000343706.4_Silent_p.S893S|SEZ6L_ENST00000404234.3_Silent_p.S968S|SEZ6L_ENST00000248933.6_Silent_p.S969S|SEZ6L_ENST00000360929.3_Silent_p.S894S|SEZ6L_ENST00000402979.1_Silent_p.S741S|SEZ6L_ENST00000403121.1_Silent_p.S665S	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	969						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCATCATCTCCTTACTGCTGG	0.582000													15	28					2.23348e-06	2.38223e-06	1	1	0
IFI44L	10964	broad.mit.edu	37	1	79106767	79106768	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:79106767_79106768insT	ENST00000370751.5	+	7	1289_1290	c.1110_1111insT	c.(1111-1113)tttfs	p.F371fs	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Frame_Shift_Ins_p.F113fs	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like							cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TTCAAGACAACTTTTTAAACAT	0.322													46	75	---	---	---	---					
RP11-782C8.1	0	broad.mit.edu	37	1	143211674	143211674	+	RNA	DEL	T	T	-			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:143211674delT	ENST00000438000.1	+	0	59																											TTAACATTTGTTTTTTCTTCA	0.284													3	4	---	---	---	---					
CTSK	1513	broad.mit.edu	37	1	150778662	150778663	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:150778662_150778663insT	ENST00000271651.3	-	3	268_269	c.158_159insA	c.(157-159)aacfs	p.N53fs	CTSK_ENST00000480670.1_Intron	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	53					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATACTTCAGGTTTTTTTCCCA	0.396													11	22	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:167865905_167865906insG	ENST00000367848.1	-	7	887_888	c.390_391insC	c.(388-393)cccaatfs	p.N131fs	ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.N223fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.N70fs			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332													71	131	---	---	---	---					
DARS2	55157	broad.mit.edu	37	1	173826751	173826767	+	Frame_Shift_Del	DEL	AATACCCCAGATTCTGT	AATACCCCAGATTCTGT	-			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr1:173826751_173826767delAATACCCCAGATTCTGT	ENST00000361951.4	+	17	2573_2589	c.1846_1862delAATACCCCAGATTCTGT	c.(1846-1863)aataccccagattctgtcfs	p.NTPDSV616fs	DARS2_ENST00000471476.1_3'UTR|DARS2_ENST00000239457.5_Frame_Shift_Del_p.NTPDSV161fs	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	616					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	p.T617A(1)		breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CCTCATGAGCAATACCCCAGATTCTGTCCCTCCTGAG	0.484													26	46	---	---	---	---					
CYP26B1	56603	broad.mit.edu	37	2	72374945	72374945	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:72374945delC	ENST00000001146.2	-	1	222	c.19delG	c.(19-21)gatfs	p.D7fs	CYP26B1_ENST00000546307.1_Frame_Shift_Del_p.D7fs	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	7					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GACACCAGATCCAAGCCCTCA	0.751													2	4	---	---	---	---					
ANKRD36	375248	broad.mit.edu	37	2	97911431	97911432	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:97911431_97911432insA	ENST00000420699.2	+	71	5351_5352	c.5107_5108insA	c.(5107-5109)gaafs	p.E1703fs	ANKRD36_ENST00000461153.2_Frame_Shift_Ins_p.E1703fs	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1703										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GGCTCTGAAAGAAAAGGCTTTG	0.381													6	10	---	---	---	---					
UGT1A1	54658	broad.mit.edu	37	2	234526745	234526758	+	Frame_Shift_Del	DEL	GAAAATTAGTAGAA	GAAAATTAGTAGAA	-			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr2:234526745_234526758delGAAAATTAGTAGAA	ENST00000373450.4	+	1	455_468	c.392_405delGAAAATTAGTAGAA	c.(391-405)cgaaaattagtagaafs	p.RKLVE131fs		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.R131Q(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTTAATGACCGAAAATTAGTAGAATACTTAAAGG	0.369													35	11	---	---	---	---					
MUC20	200958	broad.mit.edu	37	3	195451761	195451762	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr3:195451761_195451762insA	ENST00000320736.6	+	2	413_414	c.287_288insA	c.(286-291)acaaaafs	p.TK96fs	MUC20_ENST00000436408.1_Frame_Shift_Ins_p.TK96fs|MUC20_ENST00000447234.2_Frame_Shift_Ins_p.TK96fs|MUC20_ENST00000445522.2_Frame_Shift_Ins_p.TK61fs			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	273					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AGGAGTTTCACAAAAACATCTC	0.579													19	42	---	---	---	---					
HNRNPAB	3182	broad.mit.edu	37	5	177632994	177632995	+	Frame_Shift_Ins	INS	-	-	CAGC			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr5:177632994_177632995insCAGC	ENST00000358344.3	+	3	618_619	c.361_362insCAGC	c.(361-363)gcafs	p.A121fs	HNRNPAB_ENST00000355836.5_Frame_Shift_Ins_p.A121fs|HNRNPAB_ENST00000506259.1_Frame_Shift_Ins_p.A121fs|HNRNPAB_ENST00000504898.1_Frame_Shift_Ins_p.A121fs|HNRNPAB_ENST00000515193.1_Frame_Shift_Ins_p.A121fs|HNRNPAB_ENST00000506339.1_Frame_Shift_Ins_p.A121fs|HNRNPAB_ENST00000514633.1_Frame_Shift_Ins_p.A121fs	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	120	RRM 1.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						GTTCAAAGATGCAGCCAGTGTG	0.416													40	88	---	---	---	---					
CDKAL1	54901	broad.mit.edu	37	6	20649569	20649570	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:20649569_20649570insA	ENST00000274695.4	+	5	499_500	c.332_333insA	c.(331-336)gtaaaafs	p.VK111fs	CDKAL1_ENST00000378610.1_Frame_Shift_Ins_p.VK111fs|CDKAL1_ENST00000378624.4_Frame_Shift_Ins_p.VK41fs	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	111	MTTase N-terminal.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			AGTTGCACTGTAAAAAACCCAG	0.297													28	42	---	---	---	---					
PRRT1	80863	broad.mit.edu	37	6	32118376	32118376	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:32118376delG	ENST00000211413.5	-	2	451	c.327delC	c.(325-327)cccfs	p.P109fs	PRRT1_ENST00000375152.2_Intron|PRRT1_ENST00000375150.2_Intron	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	109					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GGTAAGGGTCGGGTGGCATGC	0.791													2	4	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508369	71508370	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr6:71508369_71508370insA	ENST00000370455.3	+	6	753_754	c.505_506insA	c.(505-507)gaafs	p.E169fs	SMAP1_ENST00000316999.5_Frame_Shift_Ins_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Ins_p.E142fs	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						gaaagaaaaggaaaaaaaaaag	0.287													3	3	---	---	---	---					
ST18	9705	broad.mit.edu	37	8	53084827	53084827	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr8:53084827delA	ENST00000276480.7	-	10	1277	c.594delT	c.(592-594)agtfs	p.S198fs		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	198						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)				CATTTTCTGCACTTTCAGAGT	0.418													26	37	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49425169	49425170	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:49425169_49425170insT	ENST00000301067.7	-	39	13317_13318	c.13318_13319insA	c.(13318-13320)atafs	p.I4440fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGGTGCCCCTATTGGCTCCCCA	0.604													23	25	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49448402	49448403	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:49448402_49448403insG	ENST00000301067.7	-	3	307_308	c.308_309insC	c.(307-309)ccafs	p.P103fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CATTGGGCCCTGGGCTCCCCCC	0.624													19	16	---	---	---	---					
RP11-221N13.4	0	broad.mit.edu	37	12	66039663	66039664	+	RNA	INS	-	-	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:66039663_66039664insA	ENST00000545188.1	+	0	85																											AAATGAAAAAGAAAAAAAAAGC	0.302													4	7	---	---	---	---					
CKAP4	10970	broad.mit.edu	37	12	106641230	106641232	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr12:106641230_106641232delCCT	ENST00000378026.4	-	1	534_536	c.398_400delAGG	c.(397-402)gaggtc>gtc	p.E133del	CKAP4_ENST00000552828.1_Intron	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	133						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						ACCTGCTGGACCTCCTCCAGGAC	0.704													2	4	---	---	---	---					
TRIP11	9321	broad.mit.edu	37	14	92471390	92471391	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr14:92471390_92471391insT	ENST00000267622.4	-	11	3302_3303	c.2929_2930insA	c.(2929-2931)accfs	p.T977fs		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	977					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ATGCAACTGGGTTTTGATTTGT	0.351			T	PDGFRB	AML								9	54	---	---	---	---					
PIGB	9488	broad.mit.edu	37	15	55631503	55631503	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr15:55631503delT	ENST00000164305.5	+	7	1124	c.833delT	c.(832-834)attfs	p.I278fs	PIGB_ENST00000539642.1_Frame_Shift_Del_p.I83fs	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	278					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		ATTGATCGTATTTTTTTTGGC	0.284													2	4	---	---	---	---					
NPIPB6	728741	broad.mit.edu	37	16	28354429	28354430	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr16:28354429_28354430insT	ENST00000532254.1	-	7	1461_1462	c.776_777insA	c.(775-777)aacfs	p.N259fs	NPIPB6_ENST00000533640.1_Frame_Shift_Ins_p.N241fs	NM_001282524.1	NP_001269453.1			nuclear pore complex interacting protein family, member B6																		GGCCCATCCTGTTTTTTAAAGT	0.520													16	7	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56060586	56060587	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr17:56060586_56060587insT	ENST00000584396.1	-	2	262_263	c.174_175insA	c.(172-177)aaagaafs	p.E59fs	VEZF1_ENST00000581208.1_Frame_Shift_Ins_p.E68fs			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	68					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TTGGGTTTTTCTTTTTTAATCC	0.460													75	101	---	---	---	---					
LOC400685	400685	broad.mit.edu	37	19	35316984	35316985	+	RNA	INS	-	-	A			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr19:35316984_35316985insA	ENST00000590963.1	-	0	563					NR_033982.1																						TCCTGTGTTGGAAAAAAATAAT	0.347													3	3	---	---	---	---					
CSRP2BP	57325	broad.mit.edu	37	20	18125916	18125917	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A6AW-01A-11D-A30E-08	TCGA-DK-A6AW-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16086bbe-ad71-4346-8636-89a4c8344764	cf1a5be6-dae4-4151-b7c9-c1f7bb8adcb2	g.chr20:18125916_18125917insT	ENST00000435364.3	+	2	640_641	c.299_300insT	c.(298-303)aattttfs	p.NF100fs	CSRP2BP_ENST00000377681.3_Frame_Shift_Ins_p.NF100fs|CSRP2BP_ENST00000489634.2_5'UTR	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein						histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AAGGGTGATAATTTTTTTAGGT	0.441													89	106	---	---	---	---