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
NRD1	4898	broad.mit.edu	37	1	52301803	52301803	+	Splice_Site	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:52301803T>C	ENST00000354831.7	-	5	1105	c.916_splice	c.e5+1	p.M306_splice	NRD1_ENST00000539524.1_Splice_Site_p.M174_splice|NRD1_ENST00000544028.1_Splice_Site_p.M106_splice|NRD1_ENST00000352171.7_Splice_Site_p.M238_splice|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	237					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	p.M306V(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AAATTCTTACTGTGCTCCAAA	0.423000													11	19					0	0	0.387290	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249107312	249107312	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:249107312C>A	ENST00000366472.5	-	6	1816	c.587G>T	c.(586-588)cGa>cTa	p.R196L	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R164L	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	196								p.R196L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCGAGTCACTCGCTGGTGCTC	0.637000													4	8					0.0293803	0.0297312	0.248553	1	0
AKR7A3	22977	broad.mit.edu	37	1	19615030	19615030	+	Silent	SNP	A	A	C	rs150259165	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:19615030A>C	ENST00000361640.4	-	1	714	c.174T>G	c.(172-174)ctT>ctG	p.L58L		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	58					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGCCGCCAAGGATGGTCT	0.697000													3	13					0	0	0.217242	0	0
SPTLC1	10558	broad.mit.edu	37	9	94794786	94794786	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:94794786C>G	ENST00000262554.2	-	15	1388	c.1383G>C	c.(1381-1383)gcG>gcC	p.A461A		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	461						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.A461A(2)		breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGATGGTGGACGCAGCTCTCT	0.567000													9	49					0	0	0.387290	0	0
ANKRD20A19P	400110	broad.mit.edu	37	13	24515869	24515869	+	RNA	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:24515869G>A	ENST00000442969.1	-	0	1043																											CAGGCCAAATGTAGAGCAGTT	0.408000													10	111					0	0	0.387290	0	0
WIPF3	644150	broad.mit.edu	37	7	29928925	29928925	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:29928925A>T	ENST00000409290.1	+	6	1253	c.1253A>T	c.(1252-1254)gAc>gTc	p.D418V	WIPF3_ENST00000242140.5_Missense_Mutation_p.D418V|WIPF3_ENST00000409123.1_Missense_Mutation_p.D418V	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	418								p.D418V(2)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						TGTGCAGATGACTTCGAGTCT	0.443000													13	24					0	0	0.411799	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26431814	26431814	+	RNA	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:26431814C>A	ENST00000466808.2	+	0	1762																		p.P578T(2)									ACTAGTTGTTCCACAGCTCCC	0.483000													123	270					1.0372e-43	1.44696e-43	0.870114	1	0
CYP3A4	1576	broad.mit.edu	37	7	99358457	99358457	+	Silent	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:99358457A>C	ENST00000354593.2	-	7	1054	c.951T>G	c.(949-951)ccT>ccG	p.P317P	CYP3A4_ENST00000336411.2_Silent_p.P467P			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	467					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	p.P467P(1)		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)	TTTCTTTACAAGGTTTGAAGG	0.338000													91	82					0	0	0.870114	0	0
AFTPH	54812	broad.mit.edu	37	2	64808353	64808353	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:64808353G>C	ENST00000422803.1	+	8	2799	c.2485G>C	c.(2485-2487)Gat>Cat	p.D829H	AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000238856.4_Intron|AFTPH_ENST00000409933.1_Missense_Mutation_p.D829H|AFTPH_ENST00000238855.7_Missense_Mutation_p.D829H|AFTPH_ENST00000409183.1_Missense_Mutation_p.D460H			Q6ULP2	AFTIN_HUMAN	aftiphilin	829	Clathrin-binding (Potential).				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	p.D829H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TCTGAACCTTGATTTCTTTGG	0.478000													6	20					0	0	0.248553	0	0
PIK3R5	23533	broad.mit.edu	37	17	8784284	8784284	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:8784284G>A	ENST00000447110.1	-	18	2557	c.2433C>T	c.(2431-2433)aaC>aaT	p.N811N	PIK3R5_ENST00000584803.1_Silent_p.N810N|PIK3R5_ENST00000581552.1_Silent_p.N811N	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	811					platelet activation	cytosol|membrane|nucleus		p.N811N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGGGGCAGCTGTTGGAGCCGA	0.562000													46	131					0	0	0.870114	0	0
HK1	3098	broad.mit.edu	37	10	71075716	71075716	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:71075716C>T	ENST00000298649.3	+	1	107	c.6C>T	c.(4-6)gaC>gaT	p.D2D	HK1_ENST00000448642.2_Intron|HK1_ENST00000404387.2_Intron|HK1_ENST00000360289.2_Intron	NM_033496.2	NP_277031.1	P19367	HXK1_HUMAN	hexokinase 1	0	Hydrophobic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.D2D(2)		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						TCCAGATGGACTGTGAGCACA	0.562000													9	70					0	0	0.361761	0	0
COL2A1	1280	broad.mit.edu	37	12	48376677	48376677	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:48376677T>C	ENST00000380518.3	-	33	2311	c.2147A>G	c.(2146-2148)cAg>cGg	p.Q716R	COL2A1_ENST00000337299.6_Missense_Mutation_p.Q647R|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	716	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.Q716R(2)|p.Q647R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACGGGGACCCTGGAGGCCCTG	0.627000													16	23					0	0	0.557998	0	0
PTPRD	5789	broad.mit.edu	37	9	8486043	8486043	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:8486043A>T	ENST00000381196.4	-	25	3317	c.2774T>A	c.(2773-2775)cTt>cAt	p.L925H	PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.L903H|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.L912H|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.L925H|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Missense_Mutation_p.L925H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	925	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L925H(2)		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)		TTCTGAGTGAAGGTTTTGAGG	0.478000										TSP Lung(15;0.13)			12	51					0	0	0.457914	0	0
SPATA18	132671	broad.mit.edu	37	4	52943162	52943162	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:52943162G>T	ENST00000295213.4	+	7	1350	c.976G>T	c.(976-978)Gac>Tac	p.D326Y	SPATA18_ENST00000419395.2_Missense_Mutation_p.D294Y	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	326					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.D326Y(4)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCGCTGCATCGACAAGGCTGA	0.637000													8	70					7.48243e-07	8.27583e-07	0.335167	1	0
PRELP	5549	broad.mit.edu	37	1	203452913	203452913	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:203452913G>T	ENST00000343110.2	+	2	728	c.601G>T	c.(601-603)Gat>Tat	p.D201Y		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	201	Poly-Leu.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.D201Y(3)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTGCTCCTGGATCTCCAGCA	0.607000													27	312					1.33986e-20	1.74028e-20	0.681144	1	0
MYH7	4625	broad.mit.edu	37	14	23884664	23884664	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:23884664G>C	ENST00000355349.3	-	36	5371	c.5209C>G	c.(5209-5211)Ctc>Gtc	p.L1737V	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1737					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1737V(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCAGTCTGGAGCTGGGACAGG	0.562000													7	107					0	0	0.278610	0	0
EDN2	1907	broad.mit.edu	37	1	41948217	41948217	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:41948217C>T	ENST00000372587.4	-	3	333	c.264G>A	c.(262-264)cgG>cgA	p.R88R	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	88					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity	p.R88R(2)		endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGAGCGGCGCCGGCGTCTTG	0.662000													7	4					0	0	0.278610	0	0
OR51E1	143503	broad.mit.edu	37	11	4674113	4674113	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:4674113G>T	ENST00000396952.5	+	2	1007	c.357G>T	c.(355-357)ctG>ctT	p.L119L	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L118L(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTGCTGCTGGCCATGGCTT	0.517000													96	517					6.00224e-42	8.3563e-42	0.870114	1	0
ZIC4	84107	broad.mit.edu	37	3	147108987	147108987	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:147108987G>T	ENST00000383075.3	-	4	1247	c.735C>A	c.(733-735)ttC>ttA	p.F245L	ZIC4_ENST00000425731.3_Missense_Mutation_p.F283L|ZIC4_ENST00000484399.1_Missense_Mutation_p.F245L|ZIC4_ENST00000473123.1_Missense_Mutation_p.F245L|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000525172.2_Missense_Mutation_p.F295L|ZIC4_ENST00000491672.1_Missense_Mutation_p.F39L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	245						nucleus	DNA binding|zinc ion binding	p.F245L(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGCTGTTGGCGAAGCGCCGCT	0.612000													22	53					2.25008e-27	3.0209e-27	0.654019	1	0
PCLO	27445	broad.mit.edu	37	7	82544499	82544499	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:82544499C>G	ENST00000423517.2	-	7	13140	c.12803G>C	c.(12802-12804)gGa>gCa	p.G4268A	PCLO_ENST00000333891.8_Missense_Mutation_p.G4268A|PCLO_ENST00000437081.1_Missense_Mutation_p.G988A	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4199	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G4268A(4)		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						TATGGTATTTCCTAATGTGCC	0.468000													3	13					0	0	0.150653	0	0
FBLN1	2192	broad.mit.edu	37	22	45958897	45958897	+	Silent	SNP	G	G	A	rs138959755	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:45958897G>A	ENST00000402984.3	+	16	2020	c.1917G>A	c.(1915-1917)gcG>gcA	p.A639A	FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000262722.7_Silent_p.A601A|FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000327858.6_Intron			P23142	FBLN1_HUMAN	fibulin 1	614					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	p.A601A(1)		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)		AAGCGCCCGCGGTGGTTTTCC	0.612000													5	21					0	0	0.184627	0	0
XIRP2	129446	broad.mit.edu	37	2	168100642	168100642	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:168100642T>C	ENST00000409195.1	+	9	2829	c.2740T>C	c.(2740-2742)Tgg>Cgg	p.W914R	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.W692R|XIRP2_ENST00000295237.9_Missense_Mutation_p.W914R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	739					actin cytoskeleton organization	cell junction	actin binding	p.W914R(2)		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						GCATCAAAAATGGATTTTTGA	0.368000													21	31					0	0	0.624587	0	0
ALK	238	broad.mit.edu	37	2	29519878	29519878	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:29519878A>G	ENST00000389048.3	-	9	2599	c.1693T>C	c.(1693-1695)Tcc>Ccc	p.S565P	ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	565	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.S565P(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGCACCAAGGACACGTTTCCC	0.547000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				28	195					0	0	0.750413	0	0
BHMT	635	broad.mit.edu	37	5	78426781	78426781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:78426781C>A	ENST00000274353.5	+	8	1170	c.1063C>A	c.(1063-1065)Ctt>Att	p.L355I	BHMT_ENST00000524080.1_Missense_Mutation_p.L202I|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	355					protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.L355I(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CTGGGAGAATCTTCGGATAGC	0.502000													60	239					3.61411e-23	4.76725e-23	0.870114	1	0
PCDHGC4	56098	broad.mit.edu	37	5	140865837	140865837	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:140865837G>T	ENST00000306593.1	+	1	1097	c.1097G>T	c.(1096-1098)gGc>gTc	p.G366V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1												p.G366V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGAACCTGGCACTGTGGTG	0.542000													7	110					0.0293803	0.0297312	0.248553	1	0
PIWIL4	143689	broad.mit.edu	37	11	94322291	94322291	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:94322291A>G	ENST00000299001.6	+	8	1130	c.919A>G	c.(919-921)Aat>Gat	p.N307D	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	307	PAZ.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	p.N307D(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGGCAGATACAATAACAGAAC	0.378000													62	234					0	0	0.870114	0	0
HOXB1	3211	broad.mit.edu	37	17	46607116	46607116	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:46607116C>A	ENST00000239174.6	-	2	791	c.699G>T	c.(697-699)agG>agT	p.R233S	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	233						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.R233S(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAATCTCCACCCTCCGGGCCC	0.567000													28	166					6.00712e-18	7.68458e-18	0.760397	1	0
COL6A6	131873	broad.mit.edu	37	3	130287011	130287011	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:130287011G>C	ENST00000358511.6	+	5	1995	c.1964G>C	c.(1963-1965)gGa>gCa	p.G655A	COL6A6_ENST00000453409.2_Missense_Mutation_p.G655A	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	655	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen		p.G655A(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCTCAGATTGGACCAGATCGG	0.418000													46	278					0	0	0.870114	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059650	11059650	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:11059650T>A	ENST00000287766.4	+	4	781	c.360T>A	c.(358-360)ccT>ccA	p.P120P	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	120					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P120P(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	AGCTGGCTCCTATGTTCAAGG	0.612000													79	167					0	0	0.870114	0	0
OR7A10	390892	broad.mit.edu	37	19	14952191	14952191	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:14952191G>C	ENST00000248058.1	-	1	498	c.499C>G	c.(499-501)Ccc>Gcc	p.P167A		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167A(2)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GTACAAAAGGGCAGTGGCAAC	0.428000													73	73					0	0	0.870114	0	0
CGN	57530	broad.mit.edu	37	1	151497319	151497319	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:151497319G>A	ENST00000271636.7	+	8	1704	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	518	Glu-rich.					myosin complex|tight junction	actin binding|motor activity	p.R524Q(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGTACCAGCGAGACACAGAG	0.622000													7	60					0	0	0.335167	0	0
FOXA3	3171	broad.mit.edu	37	19	46376130	46376130	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:46376130A>T	ENST00000302177.2	+	2	1064	c.867A>T	c.(865-867)ccA>ccT	p.P289P		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	289					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding	p.P289P(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TGGAGCTCCCAGGGGAGCTGA	0.607000													28	29					0	0	0.769981	0	0
FRMPD3	84443	broad.mit.edu	37	X	106843773	106843773	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:106843773G>T	ENST00000276185.4	+	16	2603	c.2603G>T	c.(2602-2604)cGc>cTc	p.R868L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	868						cytoskeleton		p.R917L(2)|p.R868L(2)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TCTCTTGGGCGCCCGGATCCC	0.652000													19	8					2.41591e-17	3.07892e-17	0.681144	1	0
LAMC2	3918	broad.mit.edu	37	1	183189974	183189974	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:183189974A>T	ENST00000264144.4	+	5	583	c.518A>T	c.(517-519)tAc>tTc	p.Y173F	LAMC2_ENST00000493293.1_Missense_Mutation_p.Y173F	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	173	Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.Y173F(2)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CGATCAGGTTACTATAATCTG	0.443000													18	40					0	0	0.575678	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652000													7	131					0	0	0.335167	0	0
DPEP2	64174	broad.mit.edu	37	16	68026508	68026508	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:68026508C>A	ENST00000412757.2	-	4	960	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	DPEP2_ENST00000393847.1_Missense_Mutation_p.V99F|DPEP2_ENST00000572888.1_Missense_Mutation_p.V99F			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	99					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.V99F(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TTCTGGTAAACCTGCCTTAGG	0.582000													10	35					9.70103e-10	1.11859e-09	0.361761	1	0
LIG1	3978	broad.mit.edu	37	19	48620931	48620931	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:48620931G>A	ENST00000263274.7	-	26	2966	c.2547C>T	c.(2545-2547)ctC>ctT	p.L849L	LIG1_ENST00000427526.2_Silent_p.L818L|LIG1_ENST00000536218.1_Silent_p.L781L	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	849					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|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	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.L849L(2)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GAGAGAGGGAGAGGTCAGCGC	0.662000								Nucleotide excision repair (NER)					4	10					0	0	0.150653	0	0
C15orf26	161502	broad.mit.edu	37	15	81428997	81428997	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:81428997G>A	ENST00000286732.4	+	3	383	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	100								p.Q100Q(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						ATGAAATTCAGTCCCATCTGA	0.468000													27	182					0	0	0.717897	0	0
MACF1	23499	broad.mit.edu	37	1	39765882	39765882	+	Splice_Site	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:39765882G>C	ENST00000564288.1	+	22	3259	c.2481_splice	c.e22-1	p.D828_splice	MACF1_ENST00000317713.7_Splice_Site_p.D833_splice|MACF1_ENST00000372915.3_Splice_Site_p.D833_splice|MACF1_ENST00000539005.1_Splice_Site_p.D833_splice|MACF1_ENST00000567887.1_Splice_Site_p.D865_splice|MACF1_ENST00000545844.1_Splice_Site_p.D833_splice|MACF1_ENST00000361689.2_Splice_Site_p.D833_splice			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	833					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	p.D833H(2)		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)			CATTTTGTAGGATGAAAAGGA	0.418000													36	331					0	0	0.853193	0	0
CCDC170	80129	broad.mit.edu	37	6	151894422	151894422	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:151894422C>A	ENST00000367290.5	+	6	977	c.888C>A	c.(886-888)agC>agA	p.S296R	CCDC170_ENST00000239374.7_Missense_Mutation_p.S296R			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	296								p.S296R(2)									AGGAAGTGAGCCTCCTGAAGA	0.473000													30	46					4.4194e-11	5.21105e-11	0.769981	1	0
MAEL	84944	broad.mit.edu	37	1	166973415	166973415	+	Splice_Site	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:166973415A>G	ENST00000367872.4	+	6	767		c.e6-1		MAEL_ENST00000367870.2_Splice_Site|MAEL_ENST00000491055.1_Splice_Site	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer						cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	p.?(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TATTTCCCTCAGGTGATTCTA	0.378000													28	167					0	0	0.729181	0	0
MAS1	4142	broad.mit.edu	37	6	160328002	160328002	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:160328002C>G	ENST00000252660.4	+	1	29	c.15C>G	c.(13-15)aaC>aaG	p.N5K		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	5					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	p.N5K(1)		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)		ATGGGTCAAACGTGACATCAT	0.458000													7	149					0	0	0.278610	0	0
LMAN1	3998	broad.mit.edu	37	18	57026338	57026338	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:57026338C>G	ENST00000251047.5	-	1	856	c.139G>C	c.(139-141)Gag>Cag	p.E47Q		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	47	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	p.E47Q(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TATTTGTACTCGAAACGGCGA	0.687000													29	74					0	0	0.760397	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157686	65157686	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:65157686G>T	ENST00000323544.4	+	6	1200	c.1072G>T	c.(1072-1074)Gct>Tct	p.A358S	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	358	Pro-rich.							p.A358S(2)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCCTCTCAGGCTGAGGGCAC	0.617000													13	49					1.49906e-05	1.61327e-05	0.457914	1	0
METTL18	92342	broad.mit.edu	37	1	169761944	169761944	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:169761944T>C	ENST00000310392.4	-	2	1246	c.893A>G	c.(892-894)aAc>aGc	p.N298S	C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.N298S	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	298						cytoplasm	protein methyltransferase activity	p.N298S(2)		kidney(1)|large_intestine(3)|lung(4)	8						ATAATCTGGGTTGTAAATGGT	0.343000													7	29					0	0	0.307466	0	0
MMS22L	253714	broad.mit.edu	37	6	97597755	97597755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:97597755C>T	ENST00000275053.4	-	24	3889	c.3624G>A	c.(3622-3624)tgG>tgA	p.W1208*	MMS22L_ENST00000369251.2_Nonsense_Mutation_p.W1168*	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1208					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	p.W1208*(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGCCAAGGCCCCATTTCTGCT	0.363000													10	63					0	0	0.411799	0	0
IL18BP	10068	broad.mit.edu	37	11	71712876	71712876	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:71712876C>A	ENST00000404792.1	+	5	1476	c.554C>A	c.(553-555)tCc>tAc	p.S185Y	IL18BP_ENST00000393707.4_Silent_p.L94L|IL18BP_ENST00000497194.2_3'UTR|IL18BP_ENST00000393703.4_Missense_Mutation_p.S185Y|IL18BP_ENST00000337131.5_Missense_Mutation_p.S185Y|IL18BP_ENST00000260049.5_Missense_Mutation_p.S185Y|IL18BP_ENST00000393705.4_Missense_Mutation_p.S185Y	NM_005699.3|NM_173042.2	NP_005690.2|NP_766630.2	O95998	I18BP_HUMAN	interleukin 18 binding protein	185					T-helper 1 type immune response	extracellular region	interleukin-18 binding|receptor antagonist activity	p.S185Y(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GCCCTGCCCTCCAGCCACAGC	0.597000													5	30					0.00116845	0.00121691	0.217242	1	0
GBP3	2635	broad.mit.edu	37	1	89481019	89481019	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:89481019T>G	ENST00000370481.4	-	3	489	c.269A>C	c.(268-270)gAa>gCa	p.E90A	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	90						integral to membrane	GTP binding|GTPase activity	p.E90A(2)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TAAGGTGTGTTCTGGCTTTTT	0.458000													30	277					0	0	0.760397	0	0
MAP3K19	80122	broad.mit.edu	37	2	135781097	135781097	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:135781097C>A	ENST00000392915.1	-	1	122	c.3G>T	c.(1-3)atG>atT	p.M1I	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR					mitogen-activated protein kinase kinase kinase 19																		AATGTGCTcccattttgttgg	0.453000													7	33					0.411799	0.413629	0.411799	1	0
SPINK7	84651	broad.mit.edu	37	5	147693664	147693664	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:147693664T>A	ENST00000523535.1	+	1	28	c.11T>A	c.(10-12)gTg>gAg	p.V4E	RP11-373N22.3_ENST00000501695.3_RNA|SPINK7_ENST00000514394.1_3'UTR|SPINK7_ENST00000274565.4_Splice_Site_p.V30_splice			P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)	30						extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.V30E(2)		large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACACAGGTGGACTGCAGC	0.468000													155	256					0	0	0.870114	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123802	26123802	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:26123802C>G	ENST00000314332.5	-	1	336	c.331G>C	c.(331-333)Gcc>Ccc	p.A111P	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.A111P			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	111					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.A111P(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						TCCGACACGGCGTGCTTGGCC	0.587000													60	174					0	0	0.870114	0	0
CBLB	868	broad.mit.edu	37	3	105378032	105378032	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:105378032G>A	ENST00000264122.4	-	19	3052	c.2731C>T	c.(2731-2733)Cgc>Tgc	p.R911C	CBLB_ENST00000407712.1_Missense_Mutation_p.R126C|CBLB_ENST00000394027.3_Missense_Mutation_p.R889C	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	911	Interaction with SH3KBP1.|Pro-rich.			R -> C (in Ref. 7; CAH56175).	cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	p.R911C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GCAGTCCTGCGCGGTCGTGGT	0.453000			Mis S		AML								5	55					0	0	0.248553	0	0
IL2	3558	broad.mit.edu	37	4	123372977	123372977	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:123372977G>T	ENST00000226730.4	-	4	676	c.392C>A	c.(391-393)aCa>aAa	p.T131K		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	131					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	p.T131K(1)		endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		AATGGTTGCTGTCTCATCAGC	0.313000			T	TNFRSF17	intestinal T-cell lymphoma								12	40					1.52009e-12	1.83059e-12	0.479597	1	0
LTBP2	4053	broad.mit.edu	37	14	74975375	74975375	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:74975375C>T	ENST00000261978.4	-	24	3970	c.3584G>A	c.(3583-3585)aGc>aAc	p.S1195N	LTBP2_ENST00000556690.1_Missense_Mutation_p.S1195N	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1195	Cys-rich.|EGF-like 12; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.S1195N(3)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGACCCGTGGCTGTTGAGGCA	0.632000													4	32					0	0	0.184627	0	0
ZC3H18	124245	broad.mit.edu	37	16	88653008	88653008	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:88653008G>T	ENST00000301011.5	+	3	804	c.603_splice	c.e3-1	p.D202_splice	ZC3H18_ENST00000452588.2_Splice_Site_p.D202_splice	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	202	Poly-Asp.					nucleus	nucleic acid binding|zinc ion binding	p.D202Y(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCTGTTTCAGGATGATGACCT	0.537000													9	32					0.00829132	0.00849171	0.361761	1	0
DPP6	1804	broad.mit.edu	37	7	154379601	154379601	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:154379601T>G	ENST00000406326.1	+	6	1272	c.869T>G	c.(868-870)cTg>cGg	p.L290R	DPP6_ENST00000427557.1_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.L290R(2)		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)			AGACCCTGGCTGGAGGATTGC	0.567000													85	184					0	0	0.870114	0	0
ANK3	288	broad.mit.edu	37	10	61874084	61874084	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:61874084T>C	ENST00000280772.1	-	26	3038	c.2847A>G	c.(2845-2847)ctA>ctG	p.L949L	ANK3_ENST00000503366.1_Silent_p.L950L|ANK3_ENST00000355288.2_Silent_p.L83L|ANK3_ENST00000373827.2_Silent_p.L943L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	949					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.L949L(2)|p.L584L(2)|p.L83L(2)		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						TTGTGAATGTTAGATGCTGAA	0.328000													11	70					0	0	0.361761	0	0
PIGO	84720	broad.mit.edu	37	9	35092310	35092310	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:35092310A>C	ENST00000378617.3	-	7	1968	c.1574T>G	c.(1573-1575)tTt>tGt	p.F525C	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.F525C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	525					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.F525C(2)		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)			TTTCCACAGAAAAGGGAGGAA	0.582000													39	29					0	0	0.847076	0	0
RTN4	57142	broad.mit.edu	37	2	55253716	55253716	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:55253716C>T	ENST00000337526.6	-	3	1762	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	RTN4_ENST00000357376.3_Missense_Mutation_p.E301K|RTN4_ENST00000404909.1_Missense_Mutation_p.E301K|RTN4_ENST00000354474.6_Missense_Mutation_p.E275K|RTN4_ENST00000405240.1_Missense_Mutation_p.E301K|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.E301K|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	507					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	p.E301K(2)|p.E507K(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GTATTCTTCTCTGTTACTATT	0.353000													21	90					0	0	0.654019	0	0
FAR2	55711	broad.mit.edu	37	12	29486613	29486613	+	Silent	SNP	C	C	T	rs142204438	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:29486613C>T	ENST00000182377.4	+	12	1702	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	FAR2_ENST00000536681.2_Silent_p.A478A|FAR2_ENST00000547116.1_Silent_p.A381A	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	478					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	p.A478A(2)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TCCTTATCGCCTGGCGCCTTC	0.438000													61	235					0	0	0.870114	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88885469	88885469	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:88885469C>G	ENST00000303236.3	-	9	1841	c.1540G>C	c.(1540-1542)Gat>Cat	p.D514H	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D363H	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	514					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	p.D514H(2)		ovary(3)	3						AGAACAGGATCCTTTTTGCGG	0.398000													99	160					0	0	0.870114	0	0
OR10T2	128360	broad.mit.edu	37	1	158368853	158368853	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:158368853A>C	ENST00000334438.1	-	1	403	c.404T>G	c.(403-405)cTc>cGc	p.L135R		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L135R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GTTTATGATGAGTGTGTACCT	0.463000													29	141					0	0	0.760397	0	0
FMN2	56776	broad.mit.edu	37	1	240493928	240493928	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:240493928T>C	ENST00000319653.9	+	11	4693	c.4463T>C	c.(4462-4464)aTg>aCg	p.M1488T	FMN2_ENST00000545751.1_Missense_Mutation_p.M84T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1488	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	p.M1631T(2)		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)			CCAGGGGTTATGCAGGTTCTA	0.383000													58	75					0	0	0.870114	0	0
BPIFB3	359710	broad.mit.edu	37	20	31661396	31661396	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:31661396G>T	ENST00000375494.3	+	15	1416	c.1416G>T	c.(1414-1416)ctG>ctT	p.L472L		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	472					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	p.L472L(2)									CTGTTGTGCTGACCGTGGCAT	0.557000													141	311					6.78245e-106	9.8049e-106	0.870114	1	0
WNT10B	7480	broad.mit.edu	37	12	49362003	49362003	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:49362003C>A	ENST00000301061.4	-	4	785	c.437G>T	c.(436-438)tGt>tTt	p.C146F	WNT10B_ENST00000403957.1_Missense_Mutation_p.C146F|WNT10B_ENST00000407467.1_Missense_Mutation_p.C146F	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	146					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.C146F(2)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CTTCCAGCCACAGCCACAGCT	0.622000													24	29					6.38683e-12	7.61032e-12	0.729181	1	0
PLA2G2A	5320	broad.mit.edu	37	1	20304613	20304613	+	Splice_Site	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:20304613A>T	ENST00000375111.3	-	5	458	c.185_splice	c.e5-1	p.C63_splice	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Splice_Site_p.C63_splice	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	63					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	p.C63S(2)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACACAGCAGCTGTGAGGA	0.562000													62	160					0	0	0.870114	0	0
NMS	129521	broad.mit.edu	37	2	101093874	101093874	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:101093874G>A	ENST00000376865.1	+	5	266	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	87					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		p.G87R(2)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						AGTTAAAACTGGGGTCAGTAT	0.383000													12	38					0	0	0.479597	0	0
OR52B2	255725	broad.mit.edu	37	11	6190952	6190952	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:6190952A>G	ENST00000530810.1	-	1	686	c.605T>C	c.(604-606)tTc>tCc	p.F202S	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F202S(4)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCACTGAGAAGCCATACCA	0.488000													97	204					0	0	0.870114	0	0
DNAH8	1769	broad.mit.edu	37	6	38867598	38867598	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:38867598G>T	ENST00000359357.3	+	60	8713	c.8459G>T	c.(8458-8460)gGt>gTt	p.G2820V	DNAH8_ENST00000441566.1_Missense_Mutation_p.G2784V|DNAH8_ENST00000449981.2_Missense_Mutation_p.G3037V					dynein, axonemal, heavy chain 8									p.G2820V(4)		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						TTGCTGGTGGGTGTTGGTGGT	0.353000													11	75					1.5842e-08	1.80216e-08	0.435327	1	0
OR6A2	8590	broad.mit.edu	37	11	6816486	6816486	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:6816486C>A	ENST00000332601.3	-	1	642	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152C(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCCAAGAGCCAGCAGCCATC	0.502000													73	76					2.6465e-34	3.63224e-34	0.870114	1	0
USP54	159195	broad.mit.edu	37	10	75289573	75289573	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:75289573C>G	ENST00000339859.4	-	14	2025	c.1925G>C	c.(1924-1926)cGg>cCg	p.R642P	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.R642P|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.R492P|USP54_ENST00000408019.1_Missense_Mutation_p.R642P			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	642					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.R642P(2)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGAGCCTGGCCGTGCTGGGCC	0.522000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	133					0	0	0.864702	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990391	39990391	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:39990391G>T	ENST00000332312.3	-	4	2010	c.1818C>A	c.(1816-1818)agC>agA	p.S606R		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	606						proteinaceous extracellular matrix		p.S606R(2)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CAGAGTACTGGCTGACAGAGT	0.582000													26	40					7.01153e-11	8.2104e-11	0.717897	1	0
FCRLB	127943	broad.mit.edu	37	1	161692781	161692781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:161692781C>A	ENST00000367948.2	+	4	249	c.34C>A	c.(34-36)Cca>Aca	p.P12T	FCRLB_ENST00000336830.5_Missense_Mutation_p.P12T|FCRLB_ENST00000367945.1_Intron|FCRLB_ENST00000392158.1_Missense_Mutation_p.P12T|FCRLB_ENST00000367944.3_Intron|FCRLB_ENST00000367946.3_Missense_Mutation_p.P12T			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	12						endoplasmic reticulum		p.P12T(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TTCTGCAGTTCCAAGCAGTGG	0.458000													47	108					5.2118e-15	6.38987e-15	0.870114	1	0
KCNC2	3747	broad.mit.edu	37	12	75444633	75444633	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:75444633C>A	ENST00000549446.1	-	3	1832	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	KCNC2_ENST00000393288.2_Silent_p.L384L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000298972.1_Silent_p.L384L|KCNC2_ENST00000341669.3_Silent_p.L384L|KCNC2_ENST00000540018.1_Silent_p.L384L|KCNC2_ENST00000350228.2_Silent_p.L384L|KCNC2_ENST00000548513.1_Silent_p.L384L|KCNC2_ENST00000550433.1_Silent_p.L384L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	384					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.L384L(4)		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						AAATTATCAGCAGCAAAAATT	0.453000													6	20					0.0381472	0.0385452	0.278610	1	0
WNK1	65125	broad.mit.edu	37	12	970256	970256	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:970256G>C	ENST00000537687.1	+	7	2341	c.1698G>C	c.(1696-1698)aaG>aaC	p.K566N	WNK1_ENST00000340908.4_Missense_Mutation_p.K159N|WNK1_ENST00000315939.6_Missense_Mutation_p.K566N|WNK1_ENST00000535572.1_Missense_Mutation_p.K566N|WNK1_ENST00000530271.2_Missense_Mutation_p.K566N|WNK1_ENST00000540360.1_3'UTR	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	566					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.K566N(4)		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)			CATTAATTAAGAGGAAACGAG	0.433000													46	277					0	0	0.870114	0	0
MCHR2	84539	broad.mit.edu	37	6	100395759	100395759	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:100395759G>A	ENST00000281806.2	-	3	585	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	MCHR2_ENST00000369212.1_Missense_Mutation_p.H91Y|MCHR2_ENST00000445970.1_Missense_Mutation_p.H91Y	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	91						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H91Y(2)		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)		GCCCATTGGTGAATAAGAAAA	0.483000													13	93					0	0	0.457914	0	0
RGL1	23179	broad.mit.edu	37	1	183885633	183885633	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:183885633C>T	ENST00000304685.3	+	17	2368	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	RGL1_ENST00000539189.1_Missense_Mutation_p.S572F|RGL1_ENST00000360851.3_Missense_Mutation_p.S601F|RGL1_ENST00000367531.1_Missense_Mutation_p.S636F|RGL1_ENST00000536277.1_Missense_Mutation_p.S599F	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	601					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	p.S636F(2)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GACACAAATTCCTCAGGGATG	0.507000													31	185					0	0	0.750413	0	0
PCDH15	65217	broad.mit.edu	37	10	55591271	55591271	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:55591271C>A	ENST00000373965.2	-	31	4421	c.4027G>T	c.(4027-4029)Gat>Tat	p.D1343Y	PCDH15_ENST00000437009.1_Missense_Mutation_p.D1265Y|PCDH15_ENST00000409834.1_Missense_Mutation_p.D947Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1314Y|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1341Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1299Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1336Y|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.D1336Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1336Y|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1343Y|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1336Y	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1336					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D1336Y(4)|p.D1341Y(4)		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)				TTATTGATATCAAGTAGTTTG	0.353000										HNSCC(58;0.16)			21	30					6.36457e-07	7.06249e-07	0.667858	1	0
RXFP3	51289	broad.mit.edu	37	5	33937437	33937437	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:33937437C>A	ENST00000330120.3	+	1	947	c.592C>A	c.(592-594)Cgg>Agg	p.R198R		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	198						integral to plasma membrane	N-formyl peptide receptor activity	p.R198R(2)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						AGGACACGGCCGGGGCGACTG	0.672000													11	11					0.000219431	0.000232098	0.457914	1	0
NUMB	8650	broad.mit.edu	37	14	73743882	73743882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:73743882G>A	ENST00000556772.1	-	7	3215	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	NUMB_ENST00000554521.2_Nonsense_Mutation_p.Q248*|NUMB_ENST00000359560.3_Nonsense_Mutation_p.Q443*|NUMB_ENST00000555738.2_Nonsense_Mutation_p.Q297*|NUMB_ENST00000554546.1_Nonsense_Mutation_p.Q395*|NUMB_ENST00000560335.1_Nonsense_Mutation_p.Q308*|NUMB_ENST00000559312.1_Nonsense_Mutation_p.Q259*|NUMB_ENST00000557597.1_Nonsense_Mutation_p.Q443*|NUMB_ENST00000555394.1_Nonsense_Mutation_p.Q406*|NUMB_ENST00000544991.3_Nonsense_Mutation_p.Q259*|NUMB_ENST00000535282.1_Nonsense_Mutation_p.Q443*|NUMB_ENST00000356296.4_Nonsense_Mutation_p.Q406*|NUMB_ENST00000454166.4_Nonsense_Mutation_p.Q308*|NUMB_ENST00000355058.3_Nonsense_Mutation_p.Q454*|NUMB_ENST00000555238.1_Nonsense_Mutation_p.Q454*			P49757	NUMB_HUMAN	numb homolog (Drosophila)	454					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		p.Q454*(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TGGGGCTGCTGAGCCCGGACG	0.602000													3	12					0	0	0.115264	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170193	107170193	+	RNA	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:107170193A>T	ENST00000390633.2	-	0	149																											AGGCTTCTTCACCTCAGCCCC	0.577000													41	70					0	0	0.870114	0	0
LEF1	51176	broad.mit.edu	37	4	109088767	109088767	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:109088767T>C	ENST00000379951.2	-	1	1345	c.157A>G	c.(157-159)Atc>Gtc	p.I53V	LEF1_ENST00000265165.1_Missense_Mutation_p.I53V|LEF1_ENST00000438313.2_Missense_Mutation_p.I53V|LEF1-AS1_ENST00000436413.1_RNA	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	53	CTNNB1-binding (By similarity).				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	p.I53V(2)		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)		GAAGACTTGATGTCAGCTAAA	0.587000													30	68					0	0	0.788014	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218650	130218650	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:130218650C>T	ENST00000276211.5	+	6	1144	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R131C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R255C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	267	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R267C(2)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCAGCGAGTGCGTCAGGTAAA	0.498000													16	314					0	0	0.500413	0	0
HNRNPU	3192	broad.mit.edu	37	1	245018903	245018903	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:245018903C>T	ENST00000444376.2	-	12	2352	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G	HNRNPU_ENST00000283179.9_Silent_p.G725G	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	725	Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	p.G725G(2)|p.G706G(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CGCCACGATTCCCAGGGGCTA	0.468000													7	57					0	0	0.307466	0	0
THEG	51298	broad.mit.edu	37	19	362338	362338	+	Silent	SNP	G	G	A	rs145779146	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:362338G>A	ENST00000342640.4	-	8	1044	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P	THEG_ENST00000346878.2_Silent_p.P310P	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	334					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.P334P(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGATGATCCGGGGGCTGGCCA	0.622000													4	64					0	0	0.184627	0	0
LPP	4026	broad.mit.edu	37	3	188202445	188202445	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:188202445A>T	ENST00000312675.4	+	4	505	c.259A>T	c.(259-261)Aac>Tac	p.N87Y	LPP_ENST00000448637.1_Missense_Mutation_p.N87Y|LPP_ENST00000543006.1_Missense_Mutation_p.N87Y	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	87	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	p.N87Y(2)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TATCTCTGGAAACTTTCCTCC	0.413000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								18	135					0	0	0.592651	0	0
ERVW-1	30816	broad.mit.edu	37	7	92099512	92099512	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:92099512A>T	ENST00000493463.2	-	1	1107	c.184T>A	c.(184-186)Ttc>Atc	p.F62I	ERVW-1_ENST00000603053.1_Missense_Mutation_p.F62I|ERVW-1_ENST00000604270.1_Intron|AC007566.10_ENST00000427458.1_RNA	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		62					syncytium formation	integral to membrane|plasma membrane|virion		p.F62I(2)		endometrium(1)|large_intestine(1)|lung(15)	17						tgggcagtgaaggtgggggtt	0.478000													40	175					0	0	0.864702	0	0
ERGIC1	57222	broad.mit.edu	37	5	172377742	172377742	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:172377742G>T	ENST00000393784.3	+	10	935	c.796G>T	c.(796-798)Gtc>Ttc	p.V266F		NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	266					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	p.V266F(1)		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)			GACCTTCACCGTCGCCGGCAT	0.602000													15	104					7.05477e-17	8.94043e-17	0.520397	1	0
TTN	7273	broad.mit.edu	37	2	179550274	179550274	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:179550274G>A	ENST00000589042.1	-	128	32587	c.32363C>T	c.(32362-32364)tCt>tTt	p.S10788F	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S10471F|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S9544F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10471	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S9544F(2)|p.S9544Y(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)			CACTCTCTTAGAAATAATGTG	0.358000													16	27					0	0	0.557998	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134478232	134478232	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:134478232C>A	ENST00000319914.5	-	5	1435	c.408G>T	c.(406-408)tcG>tcT	p.S136S	ST3GAL1_ENST00000522652.1_Silent_p.S136S|ST3GAL1_ENST00000521180.1_Silent_p.S136S|ST3GAL1_ENST00000399640.2_Silent_p.S136S			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	136					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	p.S136S(2)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GGCAGCCCACCGACCTCTTCT	0.577000													13	59					1.15088e-07	1.28338e-07	0.500413	1	0
ABCA13	154664	broad.mit.edu	37	7	48619849	48619849	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:48619849C>T	ENST00000435803.1	+	56	14408	c.14384C>T	c.(14383-14385)aCg>aTg	p.T4795M	ABCA13_ENST00000544596.1_Missense_Mutation_p.T525M	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4795	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.T4795M(1)|p.T4740M(1)		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						TCTGCTGGCACGGCAGGCGTG	0.532000													5	44					0	0	0.248553	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795241	142795241	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:142795241C>T	ENST00000370498.1	-	2	1190	c.437G>A	c.(436-438)gGa>gAa	p.G146E		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	146								p.I24I(2)|p.G146E(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGAAGATCCTTCAGATGA	0.527000													181	1826					0	0	0.870114	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704107	52704107	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:52704107C>T	ENST00000287727.3	+	4	1190	c.1018C>T	c.(1018-1020)Ctt>Ttt	p.L340F	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.L340F|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.L340F|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.L340F	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	340					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	p.L340F(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TTTACCTTTGCTTCTCAAACC	0.453000													33	84					0	0	0.779181	0	0
CCSER1	401145	broad.mit.edu	37	4	91230336	91230336	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:91230336G>T	ENST00000509176.1	+	2	1189	c.901G>T	c.(901-903)Gct>Tct	p.A301S	CCSER1_ENST00000333691.8_Missense_Mutation_p.A301S|CCSER1_ENST00000432775.2_Missense_Mutation_p.A301S	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1									p.A301S(4)									CCTCAATTCTGCTGCTGTTAC	0.433000													91	355					1.04275e-50	1.45769e-50	0.870114	1	0
PRPF39	55015	broad.mit.edu	37	14	45571881	45571881	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:45571881A>G	ENST00000355765.6	+	5	889	c.719A>G	c.(718-720)tAt>tGt	p.Y240C		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	240					mRNA processing|RNA splicing	nucleus	binding	p.Y240C(2)|p.Y119C(2)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ACACAGCTGTATAGTCATCAT	0.338000													63	121					0	0	0.870114	0	0
UNC13C	440279	broad.mit.edu	37	15	54305855	54305855	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:54305855G>T	ENST00000545554.1	+	1	755	c.755G>T	c.(754-756)gGa>gTa	p.G252V	UNC13C_ENST00000537900.1_Missense_Mutation_p.G252V|UNC13C_ENST00000260323.11_Missense_Mutation_p.G252V			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	252					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G252V(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAACTTCAGGGAATAAGTCAG	0.463000													29	94					6.00712e-18	7.68458e-18	0.760397	1	0
AFF3	3899	broad.mit.edu	37	2	100210522	100210522	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:100210522C>T	ENST00000317233.4	-	14	1836	c.1601G>A	c.(1600-1602)aGg>aAg	p.R534K	AFF3_ENST00000409236.1_Missense_Mutation_p.R534K|AFF3_ENST00000409579.1_Missense_Mutation_p.R559K|AFF3_ENST00000356421.2_Missense_Mutation_p.R559K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	534					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R559K(2)		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						GTTGGCTGTCCTTGGCCTTTG	0.647000													30	37					0	0	0.769981	0	0
FST	10468	broad.mit.edu	37	5	52779455	52779455	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:52779455G>A	ENST00000396947.3	+	3	565	c.399G>A	c.(397-399)ggG>ggA	p.G133G	FST_ENST00000256759.3_Silent_p.G133G	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	133	Kazal-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	p.G133G(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CAGTCTGCGGGCTGGATGGGA	0.512000													19	39					0	0	0.667858	0	0
TAF3	83860	broad.mit.edu	37	10	8056639	8056639	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:8056639G>C	ENST00000344293.5	+	7	2921	c.2715G>C	c.(2713-2715)atG>atC	p.M905I		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	905					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	p.M905I(2)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CAGAAGAGATGCAGTGGTTCT	0.507000													21	49					0	0	0.667858	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33628193	33628193	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:33628193C>T	ENST00000321505.4	+	13	4175	c.3995C>T	c.(3994-3996)gCg>gTg	p.A1332V	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1338V					KIAA1549-like									p.A1332V(1)									TCAGTGCCAGCGAGTGACGAA	0.483000													27	218					0	0	0.740014	0	0
FRMPD1	22844	broad.mit.edu	37	9	37724227	37724227	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:37724227T>C	ENST00000539465.1	+	7	1115	c.522T>C	c.(520-522)aaT>aaC	p.N174N	FRMPD1_ENST00000377765.3_Silent_p.N174N|FRMPD1_ENST00000536622.1_5'UTR|FRMPD1_ENST00000541302.1_Silent_p.N43N|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	174						cytoskeleton|cytosol|plasma membrane		p.N174N(2)		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)		TCCAGGGTAATTCTCTGCTGT	0.443000													59	16					0	0	0.870114	0	0
TNR	7143	broad.mit.edu	37	1	175331897	175331897	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:175331897G>C	ENST00000367674.1	-	14	3464	c.2756C>G	c.(2755-2757)aCc>aGc	p.T919S	TNR_ENST00000263525.2_Missense_Mutation_p.T919S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	919	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.T919S(2)		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)					TCTGGTGATGGTGAATTCTGT	0.517000													51	176					0	0	0.870114	0	0
SEC62	7095	broad.mit.edu	37	3	169693437	169693437	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:169693437G>T	ENST00000337002.4	+	2	136	c.78G>T	c.(76-78)aaG>aaT	p.K26N	SEC62_ENST00000480708.1_Missense_Mutation_p.K26N	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	26					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	p.K26N(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						CTGTGGCCAAGTATCTTCGAT	0.353000													33	79					6.2361e-21	8.13092e-21	0.834066	1	0
CDH23	64072	broad.mit.edu	37	10	73376966	73376966	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:73376966C>G	ENST00000224721.6	+	10	970	c.965C>G	c.(964-966)aCg>aGg	p.T322R	CDH23_ENST00000299366.7_Missense_Mutation_p.T362R|CDH23_ENST00000398809.4_Missense_Mutation_p.T317R|CDH23_ENST00000398842.3_Missense_Mutation_p.T317R|CDH23_ENST00000461841.3_Missense_Mutation_p.T362R	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	317	Cadherin 3.				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	p.T324R(1)|p.T317R(1)		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						CCATAGGGCACGGAGCTGAAC	0.527000													8	40					0	0	0.307466	0	0
GLB1L2	89944	broad.mit.edu	37	11	134240907	134240907	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:134240907C>G	ENST00000535456.2	+	13	1409	c.1221C>G	c.(1219-1221)atC>atG	p.I407M	GLB1L2_ENST00000389881.3_Missense_Mutation_p.I407M|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.I407M	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	407					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.I407M(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGCAGCCAATCAAGTCTGAAA	0.567000													35	192					0	0	0.834066	0	0
LILRB2	10288	broad.mit.edu	37	19	54783844	54783844	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:54783844G>T	ENST00000391748.1	-	4	284	c.157C>A	c.(157-159)Ctt>Att	p.L53I	LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.L53I|LILRB2_ENST00000391746.1_Missense_Mutation_p.L53I|LILRB2_ENST00000434421.1_Intron|LILRB2_ENST00000391749.4_Missense_Mutation_p.L53I	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	53	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L53I(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGCTTCAAGGCTCCCCTGA	0.547000													61	69					1.46168e-27	1.96631e-27	0.870114	1	0
FAM135B	51059	broad.mit.edu	37	8	139164527	139164527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:139164527C>A	ENST00000395297.1	-	13	2361	c.2191G>T	c.(2191-2193)Gga>Tga	p.G731*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	731								p.G731L(4)		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)			TCTGTGTGTCCACCCTCTAGG	0.557000										HNSCC(54;0.14)			37	72					9.62906e-15	1.17843e-14	0.819951	1	0
EPB41L4B	54566	broad.mit.edu	37	9	111947854	111947854	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:111947854T>C	ENST00000374566.3	-	23	2850	c.2333A>G	c.(2332-2334)cAc>cGc	p.H778R		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	778						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.H778R(2)		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						ACAGCGAGAGTGGGCACAGTG	0.592000													13	16					0	0	0.479597	0	0
SENP2	59343	broad.mit.edu	37	3	185329518	185329518	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:185329518T>C	ENST00000296257.5	+	8	1042	c.802T>C	c.(802-804)Ttt>Ctt	p.F268L	SENP2_ENST00000427465.2_Missense_Mutation_p.F92L|SENP2_ENST00000545472.1_Missense_Mutation_p.F258L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	268					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	p.F268L(1)		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)			AACAACTCAGTTTGTTCCAAA	0.378000													3	29					0	0	0.115264	0	0
LIPC	3990	broad.mit.edu	37	15	58830684	58830684	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:58830684C>A	ENST00000414170.3	+	3	528	c.241C>A	c.(241-243)Ctg>Atg	p.L81M	LIPC_ENST00000299022.5_Missense_Mutation_p.L81M|LIPC_ENST00000356113.6_Missense_Mutation_p.L81M|LIPC_ENST00000433326.2_Missense_Mutation_p.L81M			P11150	LIPC_HUMAN	lipase, hepatic	81					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	p.L81M(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CAACTCCTCCCTGCCTCTGGT	0.473000													158	423					1.24019e-77	1.76649e-77	0.870114	1	0
FAM135B	51059	broad.mit.edu	37	8	139164526	139164526	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:139164526C>A	ENST00000395297.1	-	13	2362	c.2192G>T	c.(2191-2193)gGa>gTa	p.G731V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	731								p.G731L(4)		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)			TTCTGTGTGTCCACCCTCTAG	0.557000										HNSCC(54;0.14)			37	72					8.69298e-16	1.08144e-15	0.827153	1	0
TRRAP	8295	broad.mit.edu	37	7	98533224	98533224	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:98533224A>G	ENST00000359863.4	+	28	4246	c.4037A>G	c.(4036-4038)gAa>gGa	p.E1346G	TRRAP_ENST00000446306.3_Missense_Mutation_p.E1345G|TRRAP_ENST00000355540.3_Missense_Mutation_p.E1346G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1346					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.E1346G(4)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGAGGCTGAAGATTCAGCT	0.388000													21	33					0	0	0.667858	0	0
ANTXR1	84168	broad.mit.edu	37	2	69304605	69304605	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:69304605A>G	ENST00000303714.4	+	8	949	c.627A>G	c.(625-627)caA>caG	p.Q209Q	ANTXR1_ENST00000409829.3_Silent_p.Q209Q|ANTXR1_ENST00000409349.3_Silent_p.Q209Q	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	209	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.Q209Q(4)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGGCTCTGCAAGGCATCATCC	0.488000									Familial Infantile Hemangioma				44	404					0	0	0.870114	0	0
DPAGT1	1798	broad.mit.edu	37	11	118971090	118971090	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:118971090C>A	ENST00000409993.2	-	6	2076	c.525G>T	c.(523-525)ctG>ctT	p.L175L	DPAGT1_ENST00000432443.2_Silent_p.L68L|DPAGT1_ENST00000354202.4_Silent_p.L175L			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	175					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	p.L175L(2)		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)		ACACTGCCAGCAGCCCCATGT	0.463000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	90					0.000375601	0.000396046	0.639603	1	0
VTI1A	143187	broad.mit.edu	37	10	114428028	114428028	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:114428028T>A	ENST00000393077.2	+	6	595	c.479T>A	c.(478-480)aTa>aAa	p.I160K	VTI1A_ENST00000432306.1_Missense_Mutation_p.I160K	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	160					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity	p.I160K(2)	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)		AGAGAAAAGATACAGCGAGCA	0.358000			T	TCF7L2	colorectal								13	61					0	0	0.500413	0	0
LPPR5	163404	broad.mit.edu	37	1	99470209	99470209	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:99470209C>T	ENST00000370188.3	-	1	379	c.19G>A	c.(19-21)Gcg>Acg	p.A7T	LPPR5_ENST00000263177.4_Missense_Mutation_p.A7T|RP5-896L10.1_ENST00000425113.1_RNA	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		7						integral to membrane	hydrolase activity	p.A7T(2)									CTGGTGAGCGCCGCGGGCAGC	0.687000													17	46					0	0	0.592651	0	0
INSRR	3645	broad.mit.edu	37	1	156823768	156823768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:156823768G>T	ENST00000368195.3	-	2	809	c.413C>A	c.(412-414)gCt>gAt	p.A138D	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	138					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	p.A138D(2)		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)					CACACGCACAGCCCCACGCAG	0.632000													10	25					0.00136819	0.00142058	0.411799	1	0
DDX20	11218	broad.mit.edu	37	1	112308806	112308806	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:112308806A>G	ENST00000475700.1	+	3	2942	c.584A>G	c.(583-585)tAc>tGc	p.Y195C	DDX20_ENST00000369702.4_Missense_Mutation_p.Y587C			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	587	Helicase ATP-binding.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	p.Y587C(2)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCAGCCATACACGTTGACT	0.443000													30	123					0	0	0.769981	0	0
MKI67	4288	broad.mit.edu	37	10	129907466	129907466	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:129907466C>A	ENST00000368654.3	-	13	3013	c.2638G>T	c.(2638-2640)Gag>Tag	p.E880*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.E520*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	880					cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.E880*(2)		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)				TTCCTGAACTCTGTAGACCTT	0.403000													52	126					3.10202e-16	3.88038e-16	0.870114	1	0
CYP1B1	1545	broad.mit.edu	37	2	38297933	38297933	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:38297933G>C	ENST00000260630.3	-	3	1965	c.1564C>G	c.(1564-1566)Ctc>Gtc	p.L522V	CYP1B1_ENST00000407341.1_Missense_Mutation_p.L522V|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	522					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	p.L522V(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GACTCTCTGAGAGTGACATTG	0.408000													26	45					0	0	0.729181	0	0
LRIF1	55791	broad.mit.edu	37	1	111494316	111494316	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:111494316T>C	ENST00000369763.4	-	2	1580	c.1190A>G	c.(1189-1191)cAg>cGg	p.Q397R	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.Q397R(2)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ACTCACTGTCTGTAACGTGTC	0.393000													95	651					0	0	0.870114	0	0
CAPN7	23473	broad.mit.edu	37	3	15288300	15288300	+	Splice_Site	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:15288300G>C	ENST00000253693.2	+	18	2325	c.2073_splice	c.e18+1	p.R691_splice		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	691	Domain III.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity	p.R691P(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TTATCAAAACGGGTGAGAAAA	0.294000													15	22					0	0	0.624587	0	0
BPIFB4	149954	broad.mit.edu	37	20	31680430	31680430	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:31680430A>T	ENST00000375483.3	+	9	1310	c.1310A>T	c.(1309-1311)cAg>cTg	p.Q437L		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	437						cytoplasm|extracellular region	lipid binding	p.Q398L(1)									CTGCAGAAGCAGCATGCTCTA	0.592000													132	155					0	0	0.870114	0	0
WT1	7490	broad.mit.edu	37	11	32413610	32413610	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:32413610C>A	ENST00000332351.3	-	9	1624	c.1339_splice	c.e9-1	p.G447_splice	WT1_ENST00000448076.3_Splice_Site_p.G447_splice|WT1_ENST00000530998.1_Splice_Site_p.G218_splice|WT1_ENST00000379079.2_Splice_Site_p.G235_splice	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	379					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G379V(4)|p.G235V(2)|p.V380_S410del(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGGTTTCACACCTAAATGGAC	0.532000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				104	244					3.00942e-58	4.23316e-58	0.870114	1	0
WDR16	146845	broad.mit.edu	37	17	9532031	9532031	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:9532031C>G	ENST00000352665.5	+	9	1137	c.1068C>G	c.(1066-1068)atC>atG	p.I356M	WDR16_ENST00000396219.3_Missense_Mutation_p.I288M|WDR16_ENST00000299764.5_Missense_Mutation_p.I366M	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	356						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.I356M(1)		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						AGAAGGATATCAGGGTGTGGC	0.517000													7	87					0	0	0.248553	0	0
THOP1	7064	broad.mit.edu	37	19	2790467	2790467	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:2790467A>G	ENST00000307741.6	+	2	268	c.65A>G	c.(64-66)aAc>aGc	p.N22S		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	22					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	p.N22S(2)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		TCTGTGGTAAACGACCTGCGG	0.607000													23	48					0	0	0.693898	0	0
SCN9A	6335	broad.mit.edu	37	2	167168167	167168167	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:167168167C>G	ENST00000375387.4	-	2	440	c.100G>C	c.(100-102)Gaa>Caa	p.E34Q	SCN9A_ENST00000409672.1_Missense_Mutation_p.E34Q|SCN9A_ENST00000409435.1_Missense_Mutation_p.E34Q|SCN9A_ENST00000303354.6_Missense_Mutation_p.E34Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	34						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E34Q(2)		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)	TCTTTGGGTTCCTTTGATTTT	0.468000													42	279					0	0	0.870114	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925558	54925558	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:54925558C>G	ENST00000293373.6	+	25	2809	c.2730C>G	c.(2728-2730)atC>atG	p.I910M	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I860M	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	910					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	p.I910M(2)		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						GCATGACCATCATTGGGGTTA	0.488000													10	50					0	0	0.387290	0	0
CYP3A7	1551	broad.mit.edu	37	7	99311132	99311132	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:99311132C>T	ENST00000336374.2	-	9	827	c.825G>A	c.(823-825)atG>atA	p.M275I		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	275					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.M275I(2)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GAGAGTCAATCATCAGCTGAA	0.433000													15	129					0	0	0.557998	0	0
ILDR1	286676	broad.mit.edu	37	3	121712504	121712504	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:121712504C>A	ENST00000273691.3	-	6	1065	c.960G>T	c.(958-960)ctG>ctT	p.L320L	ILDR1_ENST00000344209.5_Silent_p.L364L|ILDR1_ENST00000393631.1_Silent_p.L275L|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.L332L	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	364						cytosol|integral to membrane|plasma membrane	receptor activity	p.L320L(2)|p.L364L(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCCCCTCCCTCAGATCCCAGG	0.597000													13	51					1.49906e-05	1.61327e-05	0.457914	1	0
ZBTB40	9923	broad.mit.edu	37	1	22837737	22837737	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:22837737C>A	ENST00000404138.1	+	11	2410	c.1899C>A	c.(1897-1899)gcC>gcA	p.A633A	ZBTB40_ENST00000374651.4_Silent_p.A521A|ZBTB40_ENST00000375647.4_Silent_p.A633A	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	633					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A633A(2)		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)		TGAGCAGAGCCATGGAAAAAT	0.512000													24	117					1.2476e-16	1.57225e-16	0.706142	1	0
CSMD3	114788	broad.mit.edu	37	8	113651001	113651001	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:113651001A>G	ENST00000297405.5	-	21	3694	c.3450T>C	c.(3448-3450)taT>taC	p.Y1150Y	CSMD3_ENST00000343508.3_Silent_p.Y1110Y|CSMD3_ENST00000455883.2_Silent_p.Y1046Y|CSMD3_ENST00000352409.3_Silent_p.Y1150Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1150	CUB 6.					integral to membrane|plasma membrane		p.Y1110Y(2)|p.Y1150Y(2)		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						TGAAATTTCCATAGAGACCAG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	64					0	0	0.575678	0	0
NUGGC	389643	broad.mit.edu	37	8	27891171	27891171	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:27891171A>G	ENST00000413272.2	-	14	1797	c.1655T>C	c.(1654-1656)gTt>gCt	p.V552A	NUGGC_ENST00000341513.6_Missense_Mutation_p.V552A	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.V552A(4)									TTTCAGGCAAACAGCTTTCAG	0.438000													24	230					0	0	0.740014	0	0
HUWE1	10075	broad.mit.edu	37	X	53641577	53641577	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:53641577T>A	ENST00000342160.3	-	22	2636	c.2179A>T	c.(2179-2181)Agt>Tgt	p.S727C	HUWE1_ENST00000262854.6_Missense_Mutation_p.S727C|HUWE1_ENST00000218328.8_Missense_Mutation_p.S727C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	727					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	p.S727C(4)		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						TCATCCTCACTAGAGGCTTCT	0.488000													56	75					0	0	0.870114	0	0
RYR2	6262	broad.mit.edu	37	1	237802406	237802406	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:237802406G>A	ENST00000366574.2	+	46	7337	c.7020G>A	c.(7018-7020)ggG>ggA	p.G2340G	RYR2_ENST00000360064.6_Silent_p.G2338G|RYR2_ENST00000542537.1_Silent_p.G2324G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2340	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	p.G2338G(2)		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)			GAGAAGGTGGGAATGGGCTTC	0.502000													24	72					0	0	0.717897	0	0
PRODH	5625	broad.mit.edu	37	22	18905888	18905888	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:18905888C>T	ENST00000357068.6	-	11	1633	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E	PRODH_ENST00000420436.1_Silent_p.E348E|PRODH_ENST00000334029.2_Silent_p.E348E	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	456				AE -> Q (in Ref. 7; AAC39529).	glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	p.E456E(2)		breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	CATAGCCGATCTCTGCCGCAC	0.667000													8	45					0	0	0.278610	0	0
GRIN3A	116443	broad.mit.edu	37	9	104375693	104375693	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:104375693C>A	ENST00000361820.3	-	6	3331	c.2731G>T	c.(2731-2733)Gtt>Ttt	p.V911F	GRIN3A_ENST00000479772.1_5'UTR	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	911					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.V911F(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCACAGGGAACCACCCTGTAC	0.458000													38	52					1.17962e-10	1.37656e-10	0.840704	1	0
TUBG2	27175	broad.mit.edu	37	17	40818442	40818442	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:40818442C>T	ENST00000251412.7	+	10	1297	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	366					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	p.Y366Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AGTCTCCCTACCTGCCCTCGG	0.602000													7	66					0	0	0.335167	0	0
OR7C2	26658	broad.mit.edu	37	19	15052376	15052376	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:15052376C>T	ENST00000248072.3	+	1	76	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L26F(2)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CATGCAGCTTCTCCTCCATGG	0.537000													53	68					0	0	0.870114	0	0
NXPE4	54827	broad.mit.edu	37	11	114453150	114453150	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:114453150G>C	ENST00000375478.3	-	3	870	c.690C>G	c.(688-690)tgC>tgG	p.C230W	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4									p.C230W(2)									CCAGGTACTGGCACAATTCAG	0.478000													47	410					0	0	0.870114	0	0
HNRNPK	3190	broad.mit.edu	37	9	86592668	86592668	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:86592668T>C	ENST00000376263.3	-	4	315	c.92A>G	c.(91-93)cAa>cGa	p.Q31R	HNRNPK_ENST00000376264.2_Missense_Mutation_p.Q31R|HNRNPK_ENST00000360384.5_Missense_Mutation_p.Q31R|HNRNPK_ENST00000376281.4_Missense_Mutation_p.Q31R|HNRNPK_ENST00000351839.3_Missense_Mutation_p.Q31R	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	31	Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|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|single-stranded DNA binding	p.Q31R(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TTTAAATGCTTGTTCCTCTTC	0.358000													21	63					0	0	0.740014	0	0
MYH4	4622	broad.mit.edu	37	17	10369629	10369629	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:10369629C>T	ENST00000255381.2	-	4	419	c.309G>A	c.(307-309)ctG>ctA	p.L103L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	103	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.L103L(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGAGGTTATACAGCACAGCAG	0.458000													148	95					0	0	0.870114	0	0
GPKOW	27238	broad.mit.edu	37	X	48973451	48973451	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:48973451C>T	ENST00000156109.5	-	6	924	c.846G>A	c.(844-846)gtG>gtA	p.V282V		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	282						nucleus	nucleic acid binding	p.V282V(2)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CACTAACAGTCACCACCCGGC	0.547000													134	480					0	0	0.870114	0	0
GPR34	2857	broad.mit.edu	37	X	41554925	41554925	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:41554925C>G	ENST00000378142.4	+	3	323	c.39C>G	c.(37-39)gtC>gtG	p.V13V	CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Silent_p.V13V|CASK_ENST00000378154.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000442742.2_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	13						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.V13V(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						CAACTTCAGTCAGCAGCTGGC	0.423000													15	358					0	0	0.457914	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746613	77746613	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:77746613T>A	ENST00000409088.3	-	3	796	c.382A>T	c.(382-384)Aca>Tca	p.T128S	LRRTM4_ENST00000409093.1_Missense_Mutation_p.T128S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.T129S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.T129S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.T128S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	128						integral to membrane		p.T128S(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGGTGAAATGTTTTATTGTGC	0.378000													32	45					0	0	0.779181	0	0
PAPSS2	9060	broad.mit.edu	37	10	89475536	89475536	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:89475536C>G	ENST00000361175.4	+	7	1170	c.801C>G	c.(799-801)ccC>ccG	p.P267P	PAPSS2_ENST00000456849.1_Silent_p.P267P|PAPSS2_ENST00000427144.2_Silent_p.P271P	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	267					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	p.P267P(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GGGCCACTCCCCTCAAAGGTT	0.438000													7	57					0	0	0.248553	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293630	71293630	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:71293630G>A	ENST00000398530.1	-	1	291	c.254C>T	c.(253-255)tCc>tTc	p.S85F	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	85	6 X 4 AA repeats of C-C-X-P.					keratin filament		p.S85F(2)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACAGCAGTTGGACTGGGAGCA	0.622000													22	98					0	0	0.654019	0	0
RGS5	8490	broad.mit.edu	37	1	163172591	163172591	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:163172591C>A	ENST00000313961.5	-	1	312	c.35G>T	c.(34-36)tGc>tTc	p.C12F	RGS5_ENST00000534288.1_Intron|RGS5_ENST00000367903.3_Intron|RGS5_ENST00000530507.1_Missense_Mutation_p.C12F|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000527988.1_5'UTR	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	12					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.C12F(2)|p.C12Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CCTTTCCAGGCATGAGTGGGG	0.448000													27	51					3.76114e-14	4.56181e-14	0.796494	1	0
CADPS2	93664	broad.mit.edu	37	7	122261550	122261550	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:122261550C>A	ENST00000334010.7	-	5	1510	c.1089G>T	c.(1087-1089)ctG>ctT	p.L363L	CADPS2_ENST00000449022.2_Silent_p.L363L|CADPS2_ENST00000412584.2_Silent_p.L363L|CADPS2_ENST00000313070.7_Silent_p.L363L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	363					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.L363L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGGTGAATGACAGTACCACGT	0.373000													26	234					2.81731e-10	3.27079e-10	0.750413	1	0
FAT1	2195	broad.mit.edu	37	4	187541804	187541804	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:187541804A>C	ENST00000441802.2	-	10	6145	c.5936T>G	c.(5935-5937)tTt>tGt	p.F1979C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1979	Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.F1979C(2)|p.F1982C(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCCTGGGTAAACTTTAGGTG	0.453000										HNSCC(5;0.00058)			66	156					0	0	0.870114	0	0
OR1M1	125963	broad.mit.edu	37	19	9203967	9203967	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:9203967G>T	ENST00000429566.3	+	1	113	c.47G>T	c.(46-48)gGa>gTa	p.G16V		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16V(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATCCTCCTGGGACTCTCAGAA	0.507000													34	60					9.45814e-24	1.25246e-23	0.804634	1	0
WDR96	80217	broad.mit.edu	37	10	105903388	105903388	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:105903388T>G	ENST00000357060.3	-	32	4069	c.3954A>C	c.(3952-3954)aaA>aaC	p.K1318N	WDR96_ENST00000428666.1_Missense_Mutation_p.K1290N	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1318								p.K1318N(2)		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						GCGTTTTCTGTTTGGAAATCC	0.413000													12	42					0	0	0.479597	0	0
GPKOW	27238	broad.mit.edu	37	X	48973405	48973405	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:48973405C>T	ENST00000156109.5	-	6	970	c.892G>A	c.(892-894)Gac>Aac	p.D298N		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	298						nucleus	nucleic acid binding	p.D298N(2)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						GTGTTCTTGTCAAACTCCTGC	0.567000													111	468					0	0	0.870114	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035851	110035851	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:110035851C>T	ENST00000453089.2	+	5	2829	c.1948C>T	c.(1948-1950)Cac>Tac	p.H650Y	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.H682Y|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.H681Y			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	681							endonuclease activity|nucleic acid binding|zinc ion binding	p.H681Y(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCAGAATTTCCACGACCCCTT	0.547000													48	361					0	0	0.870114	0	0
KIAA1109	84162	broad.mit.edu	37	4	123165092	123165092	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:123165092C>T	ENST00000264501.4	+	31	5199	c.4826C>T	c.(4825-4827)cCa>cTa	p.P1609L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1609L|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1609L			Q2LD37	K1109_HUMAN	KIAA1109	1609					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.P1609L(2)		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						CTGGATCAACCAGTGTCCCAG	0.408000													16	82					0	0	0.575678	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767721	77767721	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:77767721C>A	ENST00000521891.2	+	10	9012	c.8564C>A	c.(8563-8565)cCt>cAt	p.P2855H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2829H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2810H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2810H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2810						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P2839H(2)		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)			GCAACCACACCTACCACGGAG	0.473000										HNSCC(33;0.089)			25	36					3.08376e-08	3.49631e-08	0.654019	1	0
SPEG	10290	broad.mit.edu	37	2	220333302	220333302	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:220333302G>A	ENST00000312358.7	+	11	3277	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1049	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.E1049K(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCACAGATGAGCTGACCTG	0.652000													78	21					0	0	0.870114	0	0
SLC1A2	6506	broad.mit.edu	37	11	35333830	35333830	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:35333830T>C	ENST00000278379.3	-	4	758	c.476A>G	c.(475-477)aAt>aGt	p.N159S	SLC1A2_ENST00000395753.1_Missense_Mutation_p.N150S|SLC1A2_ENST00000606205.1_Missense_Mutation_p.N159S|SLC1A2_ENST00000395750.1_Missense_Mutation_p.N150S	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	159					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.N159S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CACTTCATCATTCTTCTTCCC	0.512000													45	371					0	0	0.870114	0	0
MED1	5469	broad.mit.edu	37	17	37565297	37565297	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:37565297G>C	ENST00000300651.6	-	17	3400	c.3177C>G	c.(3175-3177)ccC>ccG	p.P1059P	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1059	Interaction with ESR1.				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	p.P1059P(2)		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)		TTTTGGGAATGGGTGGTGTGG	0.507000										HNSCC(31;0.082)			137	122					0	0	0.870114	0	0
COX7A2L	9167	broad.mit.edu	37	2	42578436	42578436	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:42578436T>A	ENST00000378669.1	-	4	1097	c.268A>T	c.(268-270)Acc>Tcc	p.T90S	COX7A2L_ENST00000482463.1_5'UTR|COX7A2L_ENST00000234301.2_Missense_Mutation_p.T90S			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	90					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	p.T90S(2)		lung(4)	4						AGCGCCATGGTGGTCCGGTAA	0.522000													70	121					0	0	0.870114	0	0
EML4	27436	broad.mit.edu	37	2	42530318	42530318	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:42530318A>G	ENST00000318522.5	+	15	1978	c.1716A>G	c.(1714-1716)cgA>cgG	p.R572R	EML4_ENST00000402711.2_Silent_p.R514R|EML4_ENST00000453191.2_5'UTR|EML4_ENST00000401738.3_Silent_p.R583R	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	572					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.R572R(2)	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						GCACATCACGAAACTTTATTT	0.348000			T	ALK	NSCLC								37	214					0	0	0.840704	0	0
SYAP1	94056	broad.mit.edu	37	X	16773137	16773137	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:16773137C>T	ENST00000380155.3	+	6	738	c.645C>T	c.(643-645)ctC>ctT	p.L215L		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	215								p.L215L(2)		endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					CAGCCCAGCTCACGGCCCTGG	0.512000													18	22					0	0	0.624587	0	0
ENPEP	2028	broad.mit.edu	37	4	111436540	111436540	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:111436540C>T	ENST00000265162.5	+	8	1793	c.1451C>T	c.(1450-1452)tCt>tTt	p.S484F	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	484					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.S484F(2)		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)	TAGGGATCTTCTATTTTGAGA	0.299000													14	24					0	0	0.479597	0	0
TTC21A	199223	broad.mit.edu	37	3	39178787	39178787	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:39178787G>T	ENST00000301819.6	+	25	3560	c.3383G>T	c.(3382-3384)cGg>cTg	p.R1128L	TTC21A_ENST00000440121.1_Missense_Mutation_p.R1079L|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Missense_Mutation_p.R1127L	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1127							binding	p.R1128L(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACCCAGCTGCGGCTGCTGCAG	0.612000													6	13					0.0477658	0.0481922	0.307466	1	0
NRXN3	9369	broad.mit.edu	37	14	80328143	80328143	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:80328143T>C	ENST00000281127.7	+	6	2014	c.1135T>C	c.(1135-1137)Tac>Cac	p.Y379H	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Missense_Mutation_p.Y1008H|NRXN3_ENST00000557594.1_Missense_Mutation_p.Y584H|NRXN3_ENST00000428277.2_Missense_Mutation_p.Y406H|NRXN3_ENST00000335750.5_Missense_Mutation_p.Y1008H	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	584					angiogenesis|cell adhesion	integral to membrane		p.Y1008H(2)|p.Y406H(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTACGCCATGTACAAGTACAG	0.587000													22	86					0	0	0.624587	0	0
LRRCC1	85444	broad.mit.edu	37	8	86042277	86042277	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:86042277A>G	ENST00000414626.2	+	10	2579	c.1690A>G	c.(1690-1692)Aaa>Gaa	p.K564E	LRRCC1_ENST00000360375.3_Missense_Mutation_p.K584E			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	584					cell division|mitosis	centriole|nucleus		p.K564E(2)|p.K584E(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TCTTGCATTGAAAGAACAGGA	0.358000													12	48					0	0	0.500413	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457293	110457293	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:110457293C>A	ENST00000378402.5	+	38	5299	c.5195C>A	c.(5194-5196)cCt>cAt	p.P1732H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1732	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P1734H(2)		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)			CATGGAGTGCCTGCCCAGTGC	0.433000										HNSCC(38;0.096)			218	255					3.8e-81	5.42401e-81	0.870114	1	0
BAI3	577	broad.mit.edu	37	6	70071247	70071247	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:70071247T>A	ENST00000370598.1	+	29	4903	c.4082T>A	c.(4081-4083)aTg>aAg	p.M1361K	BAI3_ENST00000546190.1_Missense_Mutation_p.M325K|BAI3_ENST00000238918.8_Missense_Mutation_p.M567K	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1361					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.M1361K(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAGTTCAATATGAACTTAGAG	0.433000													56	169					0	0	0.870114	0	0
SLC25A40	55972	broad.mit.edu	37	7	87470973	87470973	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:87470973T>C	ENST00000341119.5	-	10	1144	c.798A>G	c.(796-798)caA>caG	p.Q266Q		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	266					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.Q266Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					ATGTCCAAAGTTGTGTCTGCT	0.264000													2	6					0	0	0.115264	0	0
FDXR	2232	broad.mit.edu	37	17	72862348	72862348	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:72862348G>A	ENST00000455107.2	-	6	696	c.280C>T	c.(280-282)Cat>Tat	p.H94Y	FDXR_ENST00000442102.2_Missense_Mutation_p.H181Y|FDXR_ENST00000420580.2_Missense_Mutation_p.H98Y|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000581530.1_Missense_Mutation_p.H138Y|FDXR_ENST00000544854.1_Missense_Mutation_p.H86Y|FDXR_ENST00000582944.1_Missense_Mutation_p.H130Y|FDXR_ENST00000583917.1_Missense_Mutation_p.H139Y|FDXR_ENST00000293195.5_Missense_Mutation_p.H138Y|FDXR_ENST00000413947.2_Missense_Mutation_p.H169Y			P22570	ADRO_HUMAN	ferredoxin reductase	138					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	p.H138Y(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGGCCCGATGGTCCTCTGCC	0.657000													3	25					0	0	0.115264	0	0
NEO1	4756	broad.mit.edu	37	15	73528761	73528761	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:73528761C>G	ENST00000339362.5	+	9	1812	c.1365C>G	c.(1363-1365)atC>atG	p.I455M	NEO1_ENST00000261908.6_Missense_Mutation_p.I455M|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Missense_Mutation_p.I455M|NEO1_ENST00000560262.1_Missense_Mutation_p.I455M			Q92859	NEO1_HUMAN	neogenin 1	455	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		p.I455M(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCCGCTTCATCAAATTGACGT	0.552000													40	187					0	0	0.847076	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213445953	213445953	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:213445953G>C	ENST00000366960.3	+	15	3327	c.3177G>C	c.(3175-3177)gtG>gtC	p.V1059V	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Silent_p.V1047V|RPS6KC1_ENST00000543470.1_Silent_p.V847V	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	1059					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	p.V1059V(1)		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)		TTACCCCTGTGGATTGGGCAG	0.458000													18	237					0	0	0.639603	0	0
FASTKD2	22868	broad.mit.edu	37	2	207635937	207635937	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:207635937G>C	ENST00000236980.6	+	4	1261	c.913G>C	c.(913-915)Gaa>Caa	p.E305Q	FASTKD2_ENST00000402774.3_Missense_Mutation_p.E305Q|FASTKD2_ENST00000403094.3_Missense_Mutation_p.E305Q	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	305					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.E305Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TTGGAAAATAGAAGATGTCTT	0.308000													26	104					0	0	0.740014	0	0
LAMB4	22798	broad.mit.edu	37	7	107743504	107743504	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:107743504G>A	ENST00000388781.3	-	10	1248	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S	LAMB4_ENST00000414450.2_Missense_Mutation_p.P389S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P389S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P389S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	389	Laminin EGF-like 2.				cell adhesion	basement membrane		p.P389S(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACGCGTAGGGATCTGAGATG	0.597000													24	50					0	0	0.693898	0	0
DYTN	391475	broad.mit.edu	37	2	207527696	207527696	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:207527696G>T	ENST00000452335.2	-	11	1680	c.1564C>A	c.(1564-1566)Ctg>Atg	p.L522M		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	522						plasma membrane	zinc ion binding	p.L522M(4)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCTTCCTCCAGCTCATCCTTT	0.463000													167	353					6.57016e-105	9.4778e-105	0.870114	1	0
ATRN	8455	broad.mit.edu	37	20	3529820	3529820	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:3529820C>A	ENST00000262919.5	+	6	1015	c.947C>A	c.(946-948)cCt>cAt	p.P316H	ATRN_ENST00000446916.2_Missense_Mutation_p.P316H	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	316					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.P316H(2)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTATTAGGTCCTGGATGTTCA	0.333000													90	282					1.36798e-35	1.88898e-35	0.870114	1	0
AMICA1	120425	broad.mit.edu	37	11	118081327	118081327	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:118081327G>T	ENST00000292067.7	-	3	710	c.269C>A	c.(268-270)tCt>tAt	p.S90Y	AMICA1_ENST00000356289.5_Missense_Mutation_p.S100Y|AMICA1_ENST00000533261.1_Missense_Mutation_p.S100Y|AMICA1_ENST00000526620.1_Missense_Mutation_p.S61Y	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	100	Ig-like V-type 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		p.S90Y(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	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;3.4e-05)		GAGCAGGAGAGAGCCATCATT	0.507000													17	510					1.15088e-07	1.28338e-07	0.500413	1	0
SLC35E3	55508	broad.mit.edu	37	12	69140237	69140237	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:69140237G>T	ENST00000398004.2	+	1	352	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	27						integral to membrane		p.C27F(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			GTGTCCATCTGCATTGTGTTC	0.592000													20	42					2.44723e-14	2.97352e-14	0.681144	1	0
KCNA2	3737	broad.mit.edu	37	1	111147346	111147346	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:111147346T>C	ENST00000485317.1	-	3	732	c.59A>G	c.(58-60)cAg>cGg	p.Q20R	KCNA2_ENST00000316361.4_Missense_Mutation_p.Q20R|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.Q20R|KCNA2_ENST00000369770.3_Missense_Mutation_p.Q20R			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	20						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.Q20R(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		ATAGGTGTCCTGTGGGTGCCC	0.587000													39	95					0	0	0.864702	0	0
DHX37	57647	broad.mit.edu	37	12	125435313	125435313	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:125435313C>A	ENST00000308736.2	-	22	3004	c.2906G>T	c.(2905-2907)aGc>aTc	p.S969I	DHX37_ENST00000544745.1_Missense_Mutation_p.S756I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	969							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.S969I(2)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AAGGACGGAGCTGGGGTGGAT	0.567000													109	60					5.48058e-68	7.75749e-68	0.870114	1	0
SI	6476	broad.mit.edu	37	3	164712076	164712076	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:164712076C>T	ENST00000264382.3	-	41	4872	c.4810G>A	c.(4810-4812)Ggt>Agt	p.G1604S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1604	Sucrase.				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	p.G1604S(2)		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)	ACAGTGCCACCATTAGCATGA	0.338000										HNSCC(35;0.089)			12	56					0	0	0.479597	0	0
RGS4	5999	broad.mit.edu	37	1	163043250	163043250	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:163043250G>C	ENST00000421743.2	+	5	667	c.507G>C	c.(505-507)ggG>ggC	p.G169G	RGS4_ENST00000527809.1_Silent_p.G54G|RGS4_ENST00000367909.6_Silent_p.G72G|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000531057.1_Silent_p.G72G|RGS4_ENST00000367906.3_Silent_p.G54G|RGS4_ENST00000367908.4_Intron	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	72	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.G169G(2)|p.G72G(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TCATAGGTGGGCTGGCAGCTT	0.423000													39	152					0	0	0.870114	0	0
C2orf48	348738	broad.mit.edu	37	2	10350487	10350487	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:10350487G>A	ENST00000381786.3	+	4	533	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	82								p.A82T(2)		endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		GAGAAGCCCAGCCCTCATTGT	0.522000													4	49					0	0	0.217242	0	0
ANO4	121601	broad.mit.edu	37	12	101295492	101295492	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:101295492C>T	ENST00000538618.1	+	4	427	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						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						TGTGGCAAGCCGCCCAGCGTC	0.498000										HNSCC(74;0.22)			41	125					0	0	0.870114	0	0
SDK2	54549	broad.mit.edu	37	17	71394318	71394318	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:71394318G>T	ENST00000392650.3	-	24	3210	c.3210C>A	c.(3208-3210)cgC>cgA	p.R1070R	SDK2_ENST00000388726.3_Silent_p.R1070R	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1070	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.R1070R(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCTGGCGCATGCGGAAGCTGG	0.627000													5	25					1.024e-07	1.14946e-07	0.184627	1	0
COL15A1	1306	broad.mit.edu	37	9	101818644	101818644	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:101818644G>T	ENST00000375001.3	+	35	3718	c.3295G>T	c.(3295-3297)Ggg>Tgg	p.G1099W		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1099	Triple-helical region 8 (COL8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G1099W(2)		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)				TGGGCCACCGGGGCCCCCGGG	0.622000													8	7					4.84862e-15	5.95536e-15	0.387290	1	0
PDCD11	22984	broad.mit.edu	37	10	105194078	105194078	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:105194078C>G	ENST00000369797.3	+	24	3732	c.3638C>G	c.(3637-3639)tCc>tGc	p.S1213C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1213	S1 motif 10.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	p.S1213C(1)		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)		CCAGATTCCTCCAAGACCCTC	0.552000													8	107					0	0	0.307466	0	0
HECW2	57520	broad.mit.edu	37	2	197184122	197184122	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:197184122C>G	ENST00000260983.2	-	9	1674	c.1492G>C	c.(1492-1494)Gat>Cat	p.D498H	HECW2_ENST00000409111.1_Missense_Mutation_p.D142H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	498					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.D498H(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						CTTCCATCATCAGCTCTGGAT	0.512000													12	49					0	0	0.457914	0	0
HEATR5B	54497	broad.mit.edu	37	2	37302747	37302747	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:37302747G>A	ENST00000233099.5	-	5	573	c.478C>T	c.(478-480)Cta>Tta	p.L160L	HEATR5B_ENST00000354531.2_Silent_p.L160L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	160							binding	p.L160L(2)		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)				ACTTTCTGTAGACTCATTAAG	0.388000													71	134					0	0	0.870114	0	0
NARS2	79731	broad.mit.edu	37	11	78204159	78204159	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:78204159T>C	ENST00000281038.5	-	7	1147	c.772A>G	c.(772-774)Atg>Gtg	p.M258V	NARS2_ENST00000528850.1_Missense_Mutation_p.M31V	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	258					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	p.M258V(2)		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)	GCTTCTATCATATAAAACTCT	0.393000													62	82					0	0	0.870114	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586354	15586354	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:15586354A>G	ENST00000292609.4	-	2	1256	c.1127T>C	c.(1126-1128)tTc>tCc	p.F376S	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.F376S			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	376					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.F376S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTCACCCAGGAAGGCCTCAGT	0.562000													96	157					0	0	0.870114	0	0
KIF24	347240	broad.mit.edu	37	9	34257209	34257209	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:34257209T>G	ENST00000379166.2	-	11	2515	c.2396A>C	c.(2395-2397)cAg>cCg	p.Q799P	KIF24_ENST00000345050.2_Missense_Mutation_p.Q665P|KIF24_ENST00000379174.3_Missense_Mutation_p.Q665P|KIF24_ENST00000402558.2_Missense_Mutation_p.Q799P	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	799					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.Q281P(2)|p.Q799P(2)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ATTCGTGAGCTGACCCTCTGG	0.478000													43	256					0	0	0.870114	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703714	103703714	+	Missense_Mutation	SNP	G	G	T	rs140050923		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:103703714G>T	ENST00000245312.3	-	4	1250	c.654C>A	c.(652-654)agC>agA	p.S218R		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	218					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.S218R(2)		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)					TGATCCAGGCGCTTTGGTACA	0.478000													47	35					1.54043e-34	2.11849e-34	0.870114	1	0
HMGCS1	3157	broad.mit.edu	37	5	43297159	43297159	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:43297159T>C	ENST00000325110.6	-	5	890	c.684A>G	c.(682-684)gcA>gcG	p.A228A	HMGCS1_ENST00000433297.2_Silent_p.A228A	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	228					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	p.A228A(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						AGCGGTCTAATGCACTGAGGT	0.413000													51	151					0	0	0.870114	0	0
KIAA2022	340533	broad.mit.edu	37	X	73964291	73964291	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:73964291G>C	ENST00000373468.1	-	3	752	c.101C>G	c.(100-102)gCa>gGa	p.A34G	KIAA2022_ENST00000055682.5_Missense_Mutation_p.A34G			Q5QGS0	K2022_HUMAN	KIAA2022	34					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.A34G(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGACTTCATTGCCACATCCTG	0.453000													12	14					0	0	0.435327	0	0
CDHR1	92211	broad.mit.edu	37	10	85968522	85968522	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:85968522C>T	ENST00000372117.3	+	12	1308	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	CDHR1_ENST00000332904.3_Missense_Mutation_p.P402L|CDHR1_ENST00000440770.2_Missense_Mutation_p.P161L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	402	Cadherin 4.				homophilic cell adhesion		calcium ion binding|receptor activity	p.P402L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGGTGGGACCCAGGGGCATC	0.443000													10	32					0	0	0.411799	0	0
SLC9B2	133308	broad.mit.edu	37	4	103949926	103949926	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:103949926C>A	ENST00000394785.3	-	11	2001	c.1370G>T	c.(1369-1371)tGg>tTg	p.W457L	SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000503230.1_Missense_Mutation_p.W400L|SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000362026.3_Missense_Mutation_p.W457L	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	457					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	p.W457L(4)									CTTTGGAAGCCATGCAAAAGA	0.363000													13	24					0.00400662	0.00412841	0.500413	1	0
ACSM1	116285	broad.mit.edu	37	16	20636757	20636757	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:20636757C>A	ENST00000219151.4	-	12	1678	c.468G>T	c.(466-468)ccG>ccT	p.P156P	ACSM1_ENST00000520010.1_Silent_p.P505P|ACSM1_ENST00000307493.4_Silent_p.P505P			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	505					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	p.P505P(2)|p.P156P(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCCCTCGAATCGGGTCTGGGC	0.602000													42	71					8.48111e-28	1.14318e-27	0.870114	1	0
DLG2	1740	broad.mit.edu	37	11	83173087	83173087	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:83173087G>C	ENST00000398309.2	-	22	2934	c.2464C>G	c.(2464-2466)Cga>Gga	p.R822G	DLG2_ENST00000537455.1_Missense_Mutation_p.R572G|DLG2_ENST00000376106.3_Missense_Mutation_p.R286G|DLG2_ENST00000330014.6_Missense_Mutation_p.R743G|DLG2_ENST00000376104.2_Missense_Mutation_p.R927G|DLG2_ENST00000426717.2_Missense_Mutation_p.R286G|DLG2_ENST00000524982.1_Missense_Mutation_p.R818G|DLG2_ENST00000418306.2_Missense_Mutation_p.R701G|DLG2_ENST00000532653.1_Missense_Mutation_p.R804G|DLG2_ENST00000543673.1_Missense_Mutation_p.R927G|DLG2_ENST00000280241.8_Missense_Mutation_p.R861G|DLG2_ENST00000404783.3_Missense_Mutation_p.R300G|DLG2_ENST00000531015.1_Missense_Mutation_p.R789G	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	822	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.R927G(2)|p.R861G(2)|p.R701G(2)|p.R822G(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTAATTGCTCGATCATAGGTT	0.378000													13	70					0	0	0.435327	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5969418	5969418	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:5969418G>T	ENST00000284898.6	-	18	1815	c.1615C>A	c.(1615-1617)Caa>Aaa	p.Q539K	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.Q530K|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.Q539K|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.Q343K	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	539					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q539K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CGTGCCACTTGGCTGGCCCGG	0.637000													17	61					2.5808e-16	3.23434e-16	0.539581	1	0
DCHS1	8642	broad.mit.edu	37	11	6661983	6661983	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:6661983C>A	ENST00000299441.3	-	2	1273	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	288	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G288W(2)		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)		GTCACAGCCCCATTGACACCA	0.592000													28	63					1.77063e-15	2.19067e-15	0.693898	1	0
MS4A5	64232	broad.mit.edu	37	11	60198329	60198329	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:60198329T>A	ENST00000300190.2	+	2	300	c.214T>A	c.(214-216)Ttg>Atg	p.L72M	MS4A5_ENST00000534071.1_Intron	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	72						integral to membrane	receptor activity	p.L72M(1)		large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						CCTTTTCACCTTGTTAAAACC	0.368000													55	181					0	0	0.870114	0	0
WDR35	57539	broad.mit.edu	37	2	20153619	20153619	+	Missense_Mutation	SNP	C	C	A	rs146380332		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:20153619C>A	ENST00000345530.3	-	13	1524	c.1409G>T	c.(1408-1410)cGg>cTg	p.R470L	WDR35_ENST00000281405.4_Missense_Mutation_p.R459L|WDR35_ENST00000416055.2_Missense_Mutation_p.R35L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	470								p.R470L(2)|p.R470Q(1)		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)					TTTTCGAGACCGTGTGATCTG	0.378000													50	352					9.16383e-17	1.157e-16	0.870114	1	0
USH2A	7399	broad.mit.edu	37	1	216052133	216052133	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:216052133G>C	ENST00000366943.2	-	42	8917	c.8531C>G	c.(8530-8532)cCa>cGa	p.P2844R	USH2A_ENST00000307340.3_Missense_Mutation_p.P2844R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2844	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P2844R(2)		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)		TGGCTTGGATGGTGGTTGCCA	0.433000										HNSCC(13;0.011)			20	70					0	0	0.624587	0	0
ATP1B4	23439	broad.mit.edu	37	X	119504691	119504691	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:119504691G>T	ENST00000218008.3	+	3	507	c.450G>T	c.(448-450)aaG>aaT	p.K150N	ATP1B4_ENST00000539306.1_Intron|ATP1B4_ENST00000361319.3_Missense_Mutation_p.K146N	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	150					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.K146N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AGCGGGTAAAGCCTCCTGGTG	0.493000													563	229					0	0	0.870114	1	0
CLMN	79789	broad.mit.edu	37	14	95677189	95677189	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:95677189C>G	ENST00000298912.4	-	7	749	c.636G>C	c.(634-636)gcG>gcC	p.A212A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	212	Actin-binding.|CH 2.					integral to membrane	actin binding	p.A212A(1)		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)		TCCAACTGCCCGCAAAGTCCT	0.562000													31	154					0	0	0.840704	0	0
GCAT	23464	broad.mit.edu	37	22	38212280	38212280	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:38212280G>T	ENST00000323205.6	+	8	1201	c.1138G>T	c.(1138-1140)Ggt>Tgt	p.G380C	GCAT_ENST00000248924.6_Missense_Mutation_p.G354C	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	354					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.G354C(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGTGATGCTGGGTGATGCCCG	0.577000													6	29					2.0095e-06	2.20103e-06	0.248553	1	0
TBX18	9096	broad.mit.edu	37	6	85446428	85446428	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:85446428G>C	ENST00000369663.5	-	8	2136	c.1799C>G	c.(1798-1800)tCt>tGt	p.S600C	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	600					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S600C(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGATACTTGAGATGATGACAG	0.413000													31	57					0	0	0.796494	0	0
UNC13C	440279	broad.mit.edu	37	15	54306827	54306827	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:54306827G>T	ENST00000545554.1	+	1	1727	c.1727G>T	c.(1726-1728)aGc>aTc	p.S576I	UNC13C_ENST00000537900.1_Missense_Mutation_p.S576I|UNC13C_ENST00000260323.11_Missense_Mutation_p.S576I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	576					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S576I(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTAATGGAAGCTCTCTCCTG	0.433000													15	58					9.16793e-09	1.04821e-08	0.520397	1	0
SAT1	6303	broad.mit.edu	37	X	23801932	23801932	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:23801932G>A	ENST00000379270.4	+	3	313	c.134G>A	c.(133-135)gGt>gAt	p.G45D	SAT1_ENST00000379254.1_Intron|SAT1_ENST00000379251.3_Missense_Mutation_p.G75D|SAT1_ENST00000379253.3_Missense_Mutation_p.G45D|SAT1_ENST00000489394.1_3'UTR	NM_002970.2	NP_002961.1	P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	45	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding	p.G75D(2)|p.G45D(2)		breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	CTAGAAGATGGTTTTGGAGAG	0.587000													16	13					0	0	0.539581	0	0
ROBO2	6092	broad.mit.edu	37	3	77600017	77600017	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:77600017G>T	ENST00000461745.1	+	8	2008	c.1108G>T	c.(1108-1110)Gtg>Ttg	p.V370L	ROBO2_ENST00000332191.8_Missense_Mutation_p.V370L|ROBO2_ENST00000487694.3_Missense_Mutation_p.V386L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	370	Ig-like C2-type 4.				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.V386L(2)|p.V370L(2)		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)		TAGATGCTCAGTGTCACCAAC	0.443000													28	37					3.99451e-17	5.07168e-17	0.740014	1	0
ERO1LB	56605	broad.mit.edu	37	1	236389807	236389807	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:236389807C>A	ENST00000354619.5	-	12	1015	c.814G>T	c.(814-816)Ggt>Tgt	p.G272C		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	272					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	p.G272C(1)		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)			CTGGGCTTACCCCAGGTTTCT	0.358000													5	37					5.18039e-06	5.62869e-06	0.278610	1	0
CYP26A1	1592	broad.mit.edu	37	10	94834752	94834752	+	Missense_Mutation	SNP	G	G	T	rs149343022	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:94834752G>T	ENST00000371531.1	+	3	802	c.424G>T	c.(424-426)Gtg>Ttg	p.V142L	CYP26A1_ENST00000394139.1_Missense_Mutation_p.V142L|CYP26A1_ENST00000224356.4_Missense_Mutation_p.V211L	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	211					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.V142L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				GCAGCAGCTTGTGGAGGCCTT	0.647000													4	21					1.024e-07	1.14946e-07	0.184627	1	0
ZSCAN20	7579	broad.mit.edu	37	1	33954745	33954745	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:33954745C>T	ENST00000361328.3	+	4	788	c.635C>T	c.(634-636)cCa>cTa	p.P212L	ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Intron	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	212					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P212L(2)		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)				CCTACTCTCCCAAAGATGGGG	0.517000													11	93					0	0	0.411799	0	0
POU2F3	25833	broad.mit.edu	37	11	120175882	120175882	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:120175882G>A	ENST00000260264.4	+	7	628	c.594G>A	c.(592-594)aaG>aaA	p.K198K	POU2F3_ENST00000543440.2_Silent_p.K196K	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	196	POU-specific.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	p.K196K(2)		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)		AGTTTGCCAAGACCTTCAAGC	0.567000													5	72					0	0	0.217242	0	0
SLC6A18	348932	broad.mit.edu	37	5	1238077	1238077	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:1238077A>C	ENST00000324642.3	+	5	757	c.634A>C	c.(634-636)Aca>Cca	p.T212P	SLC6A18_ENST00000296821.4_Missense_Mutation_p.T212P	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	212					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GATTTACTTCACAGCTTTGTT	0.512000													9	31					0	0	0.307466	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683294	84683294	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:84683294G>T	ENST00000286744.5	+	24	4198	c.3973_splice	c.e24-1	p.G1325_splice	ADAMTSL3_ENST00000567476.1_Splice_Site_p.G1325_splice	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1325	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.?(2)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTTCCAAAGGTGTCCCTCAG	0.418000													29	260					3.90053e-15	4.79956e-15	0.760397	1	0
IL16	3603	broad.mit.edu	37	15	81591951	81591951	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:81591951G>A	ENST00000394660.2	+	14	2644	c.2284G>A	c.(2284-2286)Gac>Aac	p.D762N	IL16_ENST00000302987.4_Missense_Mutation_p.D762N|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Missense_Mutation_p.D61N	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	762					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.D762N(2)|p.D716N(2)		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						ACCAAAGCTGGACACCGCCAA	0.562000													10	48					0	0	0.457914	0	0
CR1L	1379	broad.mit.edu	37	1	207867885	207867885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:207867885G>A	ENST00000508064.2	+	5	711	c.651G>A	c.(649-651)tgG>tgA	p.W217*	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	217	Sushi 3.					cytoplasm|extracellular region|membrane		p.W217*(2)|p.W225*(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGGCATCTGGAGTGGCCCAG	0.463000													48	521					0	0	0.870114	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21011691	21011691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:21011691G>T	ENST00000495827.1	-	5	432	c.387C>A	c.(385-387)taC>taA	p.Y129*	PTPLAD2_ENST00000513293.2_Nonsense_Mutation_p.Y129*	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	129					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	p.Y129*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TGCTATAAGTGTACCTGAAAG	0.368000													13	18					1.3612e-06	1.49578e-06	0.479597	1	0
KLF10	7071	broad.mit.edu	37	8	103664623	103664623	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:103664623C>G	ENST00000395884.3	-	2	908	c.6G>C	c.(4-6)gaG>gaC	p.E2D	KLF10_ENST00000285407.6_Missense_Mutation_p.E13D	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	13					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	p.E13D(1)		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)			CCATTCTTTCCTCCTATAAAA	0.303000													9	60					0	0	0.387290	0	0
CACNA1E	777	broad.mit.edu	37	1	181548245	181548245	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:181548245G>T	ENST00000526775.1	+	5	819	c.654G>T	c.(652-654)atG>atT	p.M218I	CACNA1E_ENST00000357570.5_Missense_Mutation_p.M169I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.M218I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.M218I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.M218I|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M169I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	218					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.M218I(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGAAGGCCATGGTACCTCTTC	0.488000													25	490					2.21704e-12	2.65574e-12	0.639603	1	0
CEP55	55165	broad.mit.edu	37	10	95263113	95263113	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:95263113G>C	ENST00000371485.3	+	3	731	c.427G>C	c.(427-429)Gaa>Caa	p.E143Q		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	143					cell division|mitosis	centriole|cleavage furrow|midbody		p.E143Q(2)		kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				TGCTGAACTTGAAAGCAAAAC	0.383000													34	115					0	0	0.870114	0	0
EIF3H	8667	broad.mit.edu	37	8	117658741	117658741	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:117658741C>A	ENST00000521861.1	-	7	953	c.930G>T	c.(928-930)ccG>ccT	p.P310P	EIF3H_ENST00000276682.4_Silent_p.P324P	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	310					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.P310P(2)		large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					TCCTGGCAGGCGGCTGTGGTG	0.552000													67	297					9.4991e-31	1.28808e-30	0.870114	1	0
PKD1	5310	broad.mit.edu	37	16	2160323	2160323	+	Silent	SNP	G	G	A	rs141557400	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:2160323G>A	ENST00000262304.4	-	15	5053	c.4845C>T	c.(4843-4845)aaC>aaT	p.N1615N	PKD1_ENST00000423118.1_Silent_p.N1615N	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1615	PKD 11.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCCCACCTCGTTCTCAGCCG	0.622000													5	13					0	0	0.248553	0	0
ZNF292	23036	broad.mit.edu	37	6	87968870	87968870	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:87968870A>T	ENST00000369577.3	+	8	5566	c.5523A>T	c.(5521-5523)ttA>ttT	p.L1841F	ZNF292_ENST00000339907.4_Missense_Mutation_p.L1836F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1841					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L1696F(2)|p.L1841F(2)		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)		AGGAAATTTTAGAAGGCTTAC	0.373000													21	16					0	0	0.592651	0	0
SLC6A16	28968	broad.mit.edu	37	19	49814442	49814442	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:49814442G>A	ENST00000454748.3	-	2	364	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	SLC6A16_ENST00000335875.4_Missense_Mutation_p.R55W			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	55						integral to membrane|intracellular	neurotransmitter:sodium symporter activity	p.R55W(3)		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)		TCTGCAACCCGGGCTGCTGAA	0.542000													9	41					0	0	0.307466	0	0
RELN	5649	broad.mit.edu	37	7	103155820	103155820	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:103155820C>T	ENST00000424685.2	-	50	8090	c.7931G>A	c.(7930-7932)aGa>aAa	p.R2644K	RELN_ENST00000343529.5_Missense_Mutation_p.R2644K|RELN_ENST00000428762.1_Missense_Mutation_p.R2644K			P78509	RELN_HUMAN	reelin	2644					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	p.R2644K(2)		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)		GCCGTCATGTCTTGGCTGCCA	0.532000													17	100					0	0	0.608945	0	0
TRIML2	205860	broad.mit.edu	37	4	189022242	189022242	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:189022242C>T	ENST00000512729.1	-	3	672	c.298G>A	c.(298-300)Gag>Aag	p.E100K	TRIML2_ENST00000326754.3_Missense_Mutation_p.E100K|TRIML2_ENST00000536972.1_Missense_Mutation_p.E150K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	100							ligase activity	p.E100K(2)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCCTCTAGCTCGGTGGCAAGC	0.413000													12	58					0	0	0.411799	0	0
RYR2	6262	broad.mit.edu	37	1	237948114	237948114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:237948114G>T	ENST00000366574.2	+	90	13419	c.13102G>T	c.(13102-13104)Gag>Tag	p.E4368*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E4374*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E4352*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4368					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	p.K4365_E4366>N*(2)		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)			CGACTTAAAGGAGCTGACAGA	0.537000													53	91					8.81991e-31	1.19838e-30	0.870114	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5190105	5190105	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:5190105C>T	ENST00000274181.7	+	7	1207	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H357Y	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	357	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.H357Y(4)		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						GATAAGTCACCACGCAGACCA	0.488000													65	108					0	0	0.870114	0	0
PIK3CB	5291	broad.mit.edu	37	3	138375084	138375084	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:138375084A>G	ENST00000477593.1	-	22	3048	c.2975T>C	c.(2974-2976)aTt>aCt	p.I992T	PIK3CB_ENST00000544716.1_Missense_Mutation_p.I443T|PIK3CB_ENST00000289153.2_Missense_Mutation_p.I992T			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	992	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.I992T(2)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCGTCGTAAAATCAGATATGC	0.458000													59	170					0	0	0.870114	0	0
NLRP8	126205	broad.mit.edu	37	19	56490839	56490839	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:56490839C>A	ENST00000291971.3	+	9	3027	c.2956C>A	c.(2956-2958)Ctg>Atg	p.L986M	NLRP8_ENST00000590542.1_Missense_Mutation_p.L967M	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	986						cytoplasm	ATP binding	p.L986M(2)		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)		TCTGAGACATCTGGACTTGAG	0.488000													144	139					3.42953e-66	4.84422e-66	0.870114	1	0
RGS1	5996	broad.mit.edu	37	1	192547445	192547445	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:192547445A>G	ENST00000367459.3	+	4	440	c.374A>G	c.(373-375)gAg>gGg	p.E125G	RGS1_ENST00000469578.2_Missense_Mutation_p.E125G	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	125	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.E125R(1)|p.E112R(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				AAGAAAACAGAGTCTGATCTT	0.363000													56	162					0	0	0.870114	0	0
OTOA	146183	broad.mit.edu	37	16	21739597	21739597	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:21739597C>T	ENST00000388958.3	+	19	2053	c.2052C>T	c.(2050-2052)atC>atT	p.I684I	OTOA_ENST00000388956.4_Silent_p.I605I|OTOA_ENST00000286149.4_Silent_p.I698I|OTOA_ENST00000388957.3_Silent_p.I360I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	698					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.I684I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTGTGGACATCATGGGGAACC	0.557000													151	269					0	0	0.870114	0	0
KCNA2	3737	broad.mit.edu	37	1	111146592	111146592	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:111146592C>T	ENST00000485317.1	-	3	1486	c.813G>A	c.(811-813)ggG>ggA	p.G271G	KCNA2_ENST00000316361.4_Silent_p.G271G|KCNA2_ENST00000440270.1_Silent_p.G271G|KCNA2_ENST00000369770.3_Silent_p.G271G			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	271						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G271G(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CCAACTCTGTCCCCAGGGTGA	0.532000													16	91					0	0	0.520397	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43856734	43856734	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:43856734C>T	ENST00000389420.3	-	11	1577	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V	ADAMTS20_ENST00000553158.1_Silent_p.V526V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	526	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding	p.V526V(4)		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)		CTGCTGGTGGCACGTGTTGAG	0.463000													10	24					0	0	0.387290	0	0
PLAT	5327	broad.mit.edu	37	8	42046532	42046532	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:42046532C>G	ENST00000220809.4	-	4	429	c.173G>C	c.(172-174)cGc>cCc	p.R58P	PLAT_ENST00000524009.1_Missense_Mutation_p.R58P|PLAT_ENST00000519510.1_Missense_Mutation_p.R58P|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000429710.2_Missense_Mutation_p.R58P|PLAT_ENST00000429089.2_Missense_Mutation_p.R58P|PLAT_ENST00000270189.6_Missense_Mutation_p.R58P	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	58	Fibronectin type-I.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.R58P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAGCACAGGGCGCAGCCATGA	0.502000													110	477					0	0	0.870114	0	0
TTC22	55001	broad.mit.edu	37	1	55266541	55266541	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:55266541T>C	ENST00000371276.4	-	1	399	c.296A>G	c.(295-297)aAc>aGc	p.N99S	TTC22_ENST00000371274.4_Missense_Mutation_p.N99S	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	99							binding	p.N99S(4)		kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						GGCATTGAGGTTGCCCGGGTG	0.687000													3	10					0	0	0.115264	0	0
LIPM	340654	broad.mit.edu	37	10	90572926	90572926	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:90572926A>T	ENST00000539337.1	+	4	473	c.218A>T	c.(217-219)aAc>aTc	p.N73I	LIPM_ENST00000404743.4_Missense_Mutation_p.N113I			Q5VYY2	LIPM_HUMAN	lipase, family member M	113					lipid catabolic process	extracellular region	hydrolase activity	p.N113I(2)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)|skin(1)	7						AACCTGCCCAACAATAGCCTG	0.498000													6	20					0	0	0.217242	0	0
GNPDA2	132789	broad.mit.edu	37	4	44713078	44713078	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:44713078T>C	ENST00000509756.1	-	5	592	c.486A>G	c.(484-486)ctA>ctG	p.L162L	GNPDA2_ENST00000507917.1_Silent_p.L128L|GNPDA2_ENST00000507534.1_Silent_p.L92L|GNPDA2_ENST00000295448.3_Silent_p.L162L|GNPDA2_ENST00000511187.1_Intron			Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	162					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	p.L162L(2)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TATCCATTGCTAGAGTCTTTA	0.393000													20	59					0	0	0.592651	0	0
DSCAML1	57453	broad.mit.edu	37	11	117308768	117308768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:117308768G>T	ENST00000321322.6	-	25	4456	c.4455C>A	c.(4453-4455)agC>agA	p.S1485R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1215R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1425	Fibronectin type-III 6.				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.S1485R(2)		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)		TCCACTCCTCGCTGTTGTCCA	0.602000													56	44					1.1362e-29	1.53454e-29	0.870114	1	0
ZNF644	84146	broad.mit.edu	37	1	91406850	91406850	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:91406850C>A	ENST00000370440.1	-	3	278	c.61G>T	c.(61-63)Ggg>Tgg	p.G21W	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G21W			Q9H582	ZN644_HUMAN	zinc finger protein 644	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G21W(3)		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)		TTGGCAAGCCCATTTAACACA	0.299000													24	76					3.90053e-15	4.79956e-15	0.760397	1	0
RTN4	57142	broad.mit.edu	37	2	55253145	55253145	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:55253145A>G	ENST00000337526.6	-	3	2333	c.2090T>C	c.(2089-2091)aTt>aCt	p.I697T	RTN4_ENST00000357376.3_Missense_Mutation_p.I491T|RTN4_ENST00000404909.1_Missense_Mutation_p.I491T|RTN4_ENST00000354474.6_Missense_Mutation_p.I465T|RTN4_ENST00000405240.1_Missense_Mutation_p.I491T|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.I491T|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	697					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	p.I491T(2)|p.I697T(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						ATCACATGCAATAGATATATA	0.343000													20	32					0	0	0.624587	0	0
PIK3CG	5294	broad.mit.edu	37	7	106524641	106524641	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:106524641C>T	ENST00000359195.3	+	9	3112	c.2802C>T	c.(2800-2802)ggC>ggT	p.G934G	PIK3CG_ENST00000440650.2_Silent_p.G934G|PIK3CG_ENST00000496166.1_Silent_p.G934G	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	934	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.G934G(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCTGTGCAGGCTACTGTGTGG	0.363000													58	118					0	0	0.870114	0	0
TMEM106C	79022	broad.mit.edu	37	12	48358151	48358151	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:48358151C>T	ENST00000429772.2	+	2	245	c.132C>T	c.(130-132)acC>acT	p.T44T	TMEM106C_ENST00000549288.1_Silent_p.T44T|TMEM106C_ENST00000552561.1_Silent_p.T44T|TMEM106C_ENST00000449758.2_Silent_p.T44T|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000550552.1_Silent_p.T44T|TMEM106C_ENST00000256686.6_Silent_p.T44T	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	44						endoplasmic reticulum membrane|integral to membrane		p.T44T(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TGGAATTCACCGGGAGAGATA	0.537000													51	70					0	0	0.870114	0	0
IL10RA	3587	broad.mit.edu	37	11	117870171	117870171	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:117870171C>A	ENST00000227752.3	+	7	1672	c.1552C>A	c.(1552-1554)Cag>Aag	p.Q518K	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.Q498K|IL10RA_ENST00000545409.1_Missense_Mutation_p.Q369K	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	518						integral to membrane|plasma membrane	interleukin-10 receptor activity	p.Q518K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ACAGTGGAACCAGCCCACTGA	0.577000													19	15					5.03518e-11	5.92683e-11	0.557998	1	0
TRBV6-4	28603	broad.mit.edu	37	7	142250802	142250802	+	RNA	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:142250802C>A	ENST00000390360.3	-	0	265																											GACACTATAACCATCAGGGAC	0.488000													39	174					6.2361e-21	8.13092e-21	0.834066	1	0
LRBA	987	broad.mit.edu	37	4	151765810	151765810	+	Splice_Site	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:151765810C>G	ENST00000535741.1	-	27	4934	c.4461_splice	c.e27+1	p.K1487_splice	LRBA_ENST00000507224.1_Splice_Site_p.K1487_splice|LRBA_ENST00000357115.3_Splice_Site_p.K1487_splice|LRBA_ENST00000510413.1_Splice_Site_p.K1487_splice			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1487						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.K1487N(2)		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)					GTATACTTACCTTCGCTGCAG	0.323000													22	38					0	0	0.729181	0	0
OR10G4	390264	broad.mit.edu	37	11	123887150	123887150	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:123887150G>A	ENST00000320891.4	+	1	869	c.869G>A	c.(868-870)aGa>aAa	p.R290K		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R290K(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		TACACCCTGAGAAACAAGGAG	0.433000													101	128					0	0	0.870114	0	0
ZNF716	441234	broad.mit.edu	37	7	57528739	57528739	+	Missense_Mutation	SNP	G	G	T	rs147112692	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:57528739G>T	ENST00000420713.1	+	4	684	c.572G>T	c.(571-573)gGc>gTc	p.G191V		NM_001159279.1	NP_001152751.1			zinc finger protein 716									p.G191V(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAAAACGATGGCAAATCATTT	0.343000													11	22					0.000978159	0.00102187	0.387290	1	0
OR56A4	120793	broad.mit.edu	37	11	6024118	6024118	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:6024118G>T	ENST00000330728.4	-	1	306	c.261C>A	c.(259-261)agC>agA	p.S87R		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S87R(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGAGAAGGCTGAGGGGCA	0.592000													40	51					3.76604e-16	4.70234e-16	0.853193	1	0
DNM1P46	196968	broad.mit.edu	37	15	100332548	100332548	+	RNA	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:100332548G>A	ENST00000341853.1	-	0	1643				AC090825.1_ENST00000408584.1_RNA	NR_003260.1																						AGGGCCGTCGGAGGGACCTCA	0.587000													9	19					0	0	0.307466	0	0
ARMC3	219681	broad.mit.edu	37	10	23292330	23292330	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:23292330A>G	ENST00000298032.5	+	13	1802	c.1718A>G	c.(1717-1719)tAt>tGt	p.Y573C	ARMC3_ENST00000376528.4_Missense_Mutation_p.Y310C|ARMC3_ENST00000409983.3_Missense_Mutation_p.Y573C|ARMC3_ENST00000409049.3_Missense_Mutation_p.Y573C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	573							binding	p.Y573C(2)		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						GATGGATTCTATGATTATGGT	0.333000													71	86					0	0	0.870114	0	0
OR2A14	135941	broad.mit.edu	37	7	143827010	143827010	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:143827010C>A	ENST00000408899.2	+	1	860	c.805C>A	c.(805-807)Cag>Aag	p.Q269K		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q269K(2)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TCCTGAGGAGCAGCAGAAAGT	0.552000													32	167					1.414e-09	1.62766e-09	0.788014	1	0
OR11A1	26531	broad.mit.edu	37	6	29394899	29394899	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:29394899G>A	ENST00000377149.1	-	5	992	c.520C>T	c.(520-522)Cac>Tac	p.H174Y	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.H174Y|OR11A1_ENST00000377148.1_Missense_Mutation_p.H174Y			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H174Y(2)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						TGGTCAATGTGGTTGGGGCCA	0.547000													61	148					0	0	0.870114	0	0
IST1	9798	broad.mit.edu	37	16	71955338	71955338	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:71955338A>T	ENST00000378799.6	+	6	890	c.534A>T	c.(532-534)gaA>gaT	p.E178D	RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000606369.1_Missense_Mutation_p.E30D|IST1_ENST00000378798.5_Missense_Mutation_p.E178D|IST1_ENST00000544564.1_Missense_Mutation_p.E178D|IST1_ENST00000541571.2_Missense_Mutation_p.E178D|IST1_ENST00000329908.8_Missense_Mutation_p.E178D|IST1_ENST00000538850.1_Missense_Mutation_p.E30D|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000535424.1_Missense_Mutation_p.E191D	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	178	Interaction with VPS37B.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	p.E178D(2)									TACCCTATGAACCTGACTCTG	0.393000													9	57					0	0	0.361761	0	0
DCDC1	341019	broad.mit.edu	37	11	31312213	31312213	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:31312213C>A	ENST00000597505.1	-	5	940	c.941G>T	c.(940-942)gGa>gTa	p.G314V	DCDC1_ENST00000452803.1_Missense_Mutation_p.G314V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	314					intracellular signal transduction			p.G314L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTTTCTTTTCCCACTGTAAT	0.328000													12	42					9.05144e-12	1.07665e-11	0.435327	1	0
ANKLE2	23141	broad.mit.edu	37	12	133331681	133331681	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:133331681G>C	ENST00000539605.1	-	1	6718	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V	ANKLE2_ENST00000337516.5_Missense_Mutation_p.L74V|ANKLE2_ENST00000357997.5_Missense_Mutation_p.L74V			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	74						cytoplasm|integral to membrane|nuclear envelope		p.L74V(2)		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)		GGATTCAGAAGTTTCAATCGA	0.403000													11	64					0	0	0.520397	0	0
PRKCA	5578	broad.mit.edu	37	17	64800011	64800011	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:64800011C>A	ENST00000413366.3	+	17	1901	c.1875C>A	c.(1873-1875)aaC>aaA	p.N625K		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	625	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.N625K(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GAGCAGAGAACTTTGACAAGT	0.493000													6	35					1.06961e-07	1.19867e-07	0.278610	1	0
XCL1	6375	broad.mit.edu	37	1	168550295	168550295	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:168550295T>C	ENST00000367818.3	+	3	347	c.182T>C	c.(181-183)aTt>aCt	p.I61T		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	61					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	p.I61T(2)		kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					TACAGTTTTATTACCAAACGT	0.468000													48	76					0	0	0.870114	0	0
GRM7	2917	broad.mit.edu	37	3	7620536	7620536	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:7620536C>T	ENST00000486284.1	+	8	2217	c.1943C>T	c.(1942-1944)gCc>gTc	p.A648V	GRM7_ENST00000389336.4_Missense_Mutation_p.A648V|GRM7_ENST00000402647.2_Missense_Mutation_p.A648V|GRM7_ENST00000403881.1_Missense_Mutation_p.A648V|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.A648V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	648					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	p.A648V(2)		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)	CTGATGATTGCCAAACCAGAT	0.473000													21	82					0	0	0.639603	0	0
DBX2	440097	broad.mit.edu	37	12	45410296	45410296	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:45410296G>T	ENST00000332700.6	-	4	964	c.793C>A	c.(793-795)Ctc>Atc	p.L265I		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	265						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L265I(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GACCGTGAGAGGGGATCCTCT	0.483000													47	172					1.67211e-32	2.28107e-32	0.870114	1	0
L1CAM	3897	broad.mit.edu	37	X	153134081	153134081	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:153134081C>T	ENST00000370060.1	-	13	1670	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	L1CAM_ENST00000370057.3_Missense_Mutation_p.R494H|L1CAM_ENST00000538883.1_Missense_Mutation_p.R496H|L1CAM_ENST00000361699.4_Missense_Mutation_p.R494H|L1CAM_ENST00000361981.3_Missense_Mutation_p.R489H|L1CAM_ENST00000370055.1_Missense_Mutation_p.R489H|L1CAM_ENST00000543994.1_Missense_Mutation_p.R496H	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	494	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.R494H(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAAGTAGCGTCCGGTGTC	0.552000													30	9					0	0	0.760397	0	0
AOC2	314	broad.mit.edu	37	17	40996773	40996773	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:40996773G>A	ENST00000253799.3	+	1	157	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	AOC2_ENST00000452774.2_Missense_Mutation_p.A44T	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	44					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.A44T(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ATCCCATAGGGCCCAGCCCTG	0.627000													36	324					0	0	0.827153	0	0
PMS2CL	441194	broad.mit.edu	37	7	6777369	6777369	+	RNA	SNP	T	T	C	rs35291651	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:6777369T>C	ENST00000486256.1	+	0	1496					NR_002217.1																						ACGTGTCAGCTTCTCAGGTTG	0.348000													2	11					0	0	0.115264	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209141468	209141468	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:209141468G>T	ENST00000264380.4	+	4	513	c.355G>T	c.(355-357)Ggt>Tgt	p.G119C	PIKFYVE_ENST00000308862.6_Intron|PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.G119C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	119					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.G119C(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TACCTTTGGAGGTCATGACCC	0.428000													45	124					3.88204e-17	4.93813e-17	0.870114	1	0
DPP6	1804	broad.mit.edu	37	7	154379663	154379663	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:154379663G>T	ENST00000406326.1	+	6	1334	c.931G>T	c.(931-933)Gca>Tca	p.A311S	DPP6_ENST00000427557.1_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.A311S(2)		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)			TCGCAGCCATGCACCTGCAGC	0.592000													114	223					1.81142e-54	2.54274e-54	0.870114	1	0
SCN1A	6323	broad.mit.edu	37	2	166900188	166900188	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:166900188A>T	ENST00000423058.2	-	11	2051	c.2034T>A	c.(2032-2034)acT>acA	p.T678T	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Intron|SCN1A_ENST00000375405.3_Intron|SCN1A_ENST00000303395.4_Silent_p.T678T|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	678						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T678T(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATTGTCATCAGTAGCTGGCT	0.463000													26	104					0	0	0.667858	0	0
PASK	23178	broad.mit.edu	37	2	242063433	242063433	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:242063433C>A	ENST00000403638.3	-	11	2926	c.2835G>T	c.(2833-2835)ctG>ctT	p.L945L	PASK_ENST00000544142.1_Silent_p.L759L|PASK_ENST00000539818.1_Silent_p.L729L|PASK_ENST00000405260.1_Silent_p.L945L|PASK_ENST00000234040.4_Silent_p.L945L|PASK_ENST00000358649.4_Silent_p.L945L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	945					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.L945L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGGCAAGGAACAGGCGGGTCC	0.647000													4	30					0.00909568	0.00928746	0.150653	1	0
ARHGEF6	9459	broad.mit.edu	37	X	135829672	135829672	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:135829672G>A	ENST00000250617.6	-	3	1534	c.329C>T	c.(328-330)aCa>aTa	p.T110I	ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	110	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.T110I(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTTACCTTCTGTTGCTTTGTT	0.403000													16	39					0	0	0.539581	0	0
HEATR6	63897	broad.mit.edu	37	17	58134604	58134604	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:58134604C>T	ENST00000184956.6	-	12	1900	c.1884G>A	c.(1882-1884)aaG>aaA	p.K628K	HEATR6_ENST00000585976.1_Silent_p.K628K	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	628							binding	p.K628K(2)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CAGGGGCTTTCTTCCACCAAT	0.517000													27	134					0	0	0.750413	0	0
EFTUD1	79631	broad.mit.edu	37	15	82533698	82533698	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:82533698C>A	ENST00000268206.7	-	5	459	c.291G>T	c.(289-291)gtG>gtT	p.V97V	EFTUD1_ENST00000359445.3_Silent_p.V46V	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	97					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	p.V97V(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGGAAAAGTCCACGTGTCCTG	0.423000													22	111					1.10513e-12	1.33324e-12	0.624587	1	0
LIMCH1	22998	broad.mit.edu	37	4	41687737	41687737	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:41687737G>C	ENST00000313860.7	+	23	2880	c.2826G>C	c.(2824-2826)caG>caC	p.Q942H	LIMCH1_ENST00000512820.1_Missense_Mutation_p.Q954H|LIMCH1_ENST00000381753.4_Missense_Mutation_p.Q775H|LIMCH1_ENST00000509277.1_Missense_Mutation_p.Q775H|LIMCH1_ENST00000513024.1_Missense_Mutation_p.Q795H|LIMCH1_ENST00000396595.3_Missense_Mutation_p.Q787H|LIMCH1_ENST00000512946.1_Missense_Mutation_p.Q942H|LIMCH1_ENST00000508501.1_Missense_Mutation_p.Q941H|LIMCH1_ENST00000512632.1_Missense_Mutation_p.Q865H|LIMCH1_ENST00000511496.1_Missense_Mutation_p.Q782H|LIMCH1_ENST00000514096.1_Missense_Mutation_p.Q782H|LIMCH1_ENST00000503057.1_Missense_Mutation_p.Q1326H	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	942					actomyosin structure organization		actin binding|zinc ion binding	p.Q942H(2)|p.Q1326H(2)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATCCATCCCAGAATCAGCAGA	0.428000													49	95					0	0	0.870114	0	0
HTR1F	3355	broad.mit.edu	37	3	88040798	88040798	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:88040798G>A	ENST00000319595.4	+	1	953	c.899G>A	c.(898-900)gGt>gAt	p.G300D		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	300					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	p.G300D(2)		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)	TTAATCTTGGGTGCATTTGTA	0.368000													3	15					0	0	0.115264	0	0
HAS2	3037	broad.mit.edu	37	8	122641020	122641020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:122641020C>T	ENST00000303924.4	-	2	1098	c.561G>A	c.(559-561)tgG>tgA	p.W187*		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	187						integral to plasma membrane	hyaluronan synthase activity	p.W187*(1)|p.W187C(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTTTCCACCCCATTTTTGCA	0.463000													78	387					0	0	0.870114	0	0
ZNF343	79175	broad.mit.edu	37	20	2464027	2464027	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:2464027C>A	ENST00000278772.4	-	6	2067	c.1580G>T	c.(1579-1581)gGg>gTg	p.G527V	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G527V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AAAGCCTCGCCCACATTCCCT	0.512000													55	135					3.7469e-33	5.12177e-33	0.870114	1	0
OR6N1	128372	broad.mit.edu	37	1	158735615	158735615	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:158735615G>A	ENST00000335094.2	-	1	877	c.858C>T	c.(856-858)aaC>aaT	p.N286N		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N286N(2)		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)					AGATGAAGGGGTTGAGGAAGG	0.527000													203	702					0	0	0.870114	0	0
OTOP2	92736	broad.mit.edu	37	17	72926822	72926822	+	Silent	SNP	G	G	A	rs150890021	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:72926822G>A	ENST00000331427.4	+	6	1184	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	OTOP2_ENST00000580223.1_Silent_p.T364T	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	364						integral to membrane		p.T364T(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGAACCCCACGCGCACTCTGG	0.617000													5	54					0	0	0.278610	0	0
DCDC1	341019	broad.mit.edu	37	11	31312214	31312214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:31312214C>A	ENST00000597505.1	-	5	939	c.940G>T	c.(940-942)Gga>Tga	p.G314*	DCDC1_ENST00000452803.1_Nonsense_Mutation_p.G314*			P59894	DCDC1_HUMAN	doublecortin domain containing 1	314					intracellular signal transduction			p.G314L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTTTCTTTTCCCACTGTAATC	0.328000													13	44					2.61681e-11	3.09634e-11	0.457914	1	0
POU3F4	5456	broad.mit.edu	37	X	82763575	82763575	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:82763575G>T	ENST00000373200.2	+	1	307	c.243G>T	c.(241-243)gtG>gtT	p.V81V	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	81					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	p.V81V(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGCAGGACGTGAAGCCCGGGC	0.667000													7	1					0.000442599	0.000465244	0.335167	1	0
SULT1B1	27284	broad.mit.edu	37	4	70592821	70592821	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:70592821G>C	ENST00000310613.2	-	8	1173	c.876C>G	c.(874-876)ttC>ttG	p.F292L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	292					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		p.F292L(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TCTCTGTGCGGAATTGAAGTG	0.393000													22	150					0	0	0.639603	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373677	86373677	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:86373677A>G	ENST00000604798.1	-	8	2031	c.827T>C	c.(826-828)tTa>tCa	p.L276S	MGAT4C_ENST00000332156.1_Missense_Mutation_p.L276S|MGAT4C_ENST00000548651.1_Missense_Mutation_p.L276S|MGAT4C_ENST00000393205.2_Missense_Mutation_p.L305S|MGAT4C_ENST00000549405.2_Missense_Mutation_p.L276S|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L276S|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	276					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.L276S(2)		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						AAACATTAATAAAAAATGGGC	0.383000													17	36					0	0	0.592651	0	0
SFMBT2	57713	broad.mit.edu	37	10	7325987	7325987	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:7325987G>A	ENST00000361972.4	-	6	741	c.651C>T	c.(649-651)cgC>cgT	p.R217R	SFMBT2_ENST00000397167.1_Silent_p.R217R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	217					regulation of transcription, DNA-dependent	nucleus		p.R217R(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						CATAGCGAAGGCGTAATCTTC	0.413000													34	378					0	0	0.804634	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236615	26236615	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:26236615T>G	ENST00000354667.4	-	5	491	c.323A>C	c.(322-324)cAt>cCt	p.H108P	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.H96P	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	108					RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	p.H108P(2)|p.H96P(2)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CACAGTTACATGAGCCCCTGG	0.383000			T	ETV1	prostate								7	46					0	0	0.278610	0	0
F2RL1	2150	broad.mit.edu	37	5	76128923	76128923	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:76128923T>A	ENST00000296677.4	+	2	697	c.491T>A	c.(490-492)cTc>cAc	p.L164H		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	164					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	p.L164H(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TGTTCCATTCTCTTCATGACC	0.468000													84	316					0	0	0.870114	0	0
CDH11	1009	broad.mit.edu	37	16	64981591	64981591	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:64981591T>C	ENST00000268603.4	-	13	2921	c.2306A>G	c.(2305-2307)tAt>tGt	p.Y769C	CDH11_ENST00000566827.1_Missense_Mutation_p.Y643C|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	769					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.Y769C(2)		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)		TAGATAATCATAGTCCAAGTC	0.448000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			78	90					0	0	0.870114	0	0
TOP3A	7156	broad.mit.edu	37	17	18193881	18193881	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:18193881C>A	ENST00000321105.5	-	13	1801	c.1587G>T	c.(1585-1587)aaG>aaT	p.K529N	TOP3A_ENST00000542570.1_Missense_Mutation_p.K434N|TOP3A_ENST00000540524.1_Missense_Mutation_p.K59N	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	529					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	p.K529N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CAATGCCATGCTTCTCCATGA	0.557000													5	24					0.000602214	0.000631069	0.184627	1	0
AHNAK	79026	broad.mit.edu	37	11	62292744	62292744	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:62292744C>T	ENST00000378024.4	-	5	9419	c.9145G>A	c.(9145-9147)Gct>Act	p.A3049T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3049					nervous system development	nucleus	protein binding	p.A3049T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAAGGTCAGCCTTGGGCAGG	0.498000													13	261					0	0	0.575678	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63888812	63888812	+	Splice_Site	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:63888812C>G	ENST00000337537.3	-	4	957	c.354_splice	c.e4-1	p.V119_splice	PPP2R5E_ENST00000555899.1_Splice_Site_p.V119_splice|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Splice_Site_p.V43_splice	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	119					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.V119L(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		TTGCAAGATACCTAAAAATAA	0.448000													11	77					0	0	0.411799	0	0
PTPN4	5775	broad.mit.edu	37	2	120723109	120723109	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:120723109A>G	ENST00000263708.2	+	25	3217	c.2446A>G	c.(2446-2448)Ata>Gta	p.I816V	PTPN4_ENST00000544261.1_Missense_Mutation_p.I449V	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	816	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	p.I816V(2)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GATCCAGTACATAGCCTGGCC	0.408000													68	109					0	0	0.870114	0	0
BMPER	168667	broad.mit.edu	37	7	34091581	34091581	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:34091581G>T	ENST00000297161.2	+	9	1159	c.786_splice	c.e9+1	p.R262_splice	BMPER_ENST00000494786.1_3'UTR|BMPER_ENST00000426693.1_Splice_Site_p.R262_splice	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	262	VWFC 4.				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		p.R262M(2)		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						TGTACCTGCAGGGTAAGGCAG	0.453000													124	187					8.8899e-71	1.26095e-70	0.870114	1	0
THADA	63892	broad.mit.edu	37	2	43768305	43768305	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:43768305A>T	ENST00000405006.4	-	21	3608	c.3257T>A	c.(3256-3258)gTg>gAg	p.V1086E	THADA_ENST00000415080.2_Missense_Mutation_p.V796E|THADA_ENST00000405975.2_Missense_Mutation_p.V1086E|THADA_ENST00000330266.7_Missense_Mutation_p.V796E	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1086							binding	p.V1086E(2)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TACCTGCTCCACCGTCAATAA	0.388000													51	89					0	0	0.870114	0	0
NRSN2	80023	broad.mit.edu	37	20	334097	334097	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:334097G>A	ENST00000382291.3	+	4	673	c.433G>A	c.(433-435)Gac>Aac	p.D145N	NRSN2_ENST00000382285.2_Missense_Mutation_p.D145N|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	145						integral to membrane|plasma membrane|transport vesicle		p.D145N(1)		endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTGAGCCAGGACACCAAGGC	0.632000													8	137					0	0	0.387290	0	0
IQSEC2	23096	broad.mit.edu	37	X	53283752	53283752	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:53283752G>C	ENST00000396435.3	-	4	1561	c.1361C>G	c.(1360-1362)tCt>tGt	p.S454C	IQSEC2_ENST00000375368.5_Missense_Mutation_p.S444C|IQSEC2_ENST00000375365.2_Missense_Mutation_p.S249C	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	444					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.S454C(1)|p.S451C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GATGTCATTAGAAAACTCTCC	0.567000													5	51					0	0	0.248553	0	0
NPAP1	23742	broad.mit.edu	37	15	24921525	24921525	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:24921525G>C	ENST00000329468.2	+	1	985	c.511G>C	c.(511-513)Ggg>Cgg	p.G171R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.G171R(2)									GCAGATCGAAGGGGAGGATGA	0.612000													7	41					0	0	0.361761	0	0
CREB3L2	64764	broad.mit.edu	37	7	137586170	137586170	+	Splice_Site	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:137586170T>A	ENST00000330387.6	-	8	1326		c.e8-2		CREB3L2_ENST00000456390.1_Splice_Site	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2						chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GACTCCACTCTACAAAGGAGG	0.463000			T	FUS	fibromyxoid sarcoma								8	58					0	0	0.335167	0	0
DLGAP1	9229	broad.mit.edu	37	18	3845280	3845280	+	Translation_Start_Site	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:3845280C>T	ENST00000400147.2	-	1	79	c.3G>A	c.(1-3)atG>atA	p.M1I	DLGAP1_ENST00000400150.3_Intron|DLGAP1_ENST00000515196.2_Intron|DLGAP1_ENST00000539435.1_Start_Codon_SNP_p.M1I|DLGAP1_ENST00000400155.1_Intron|DLGAP1_ENST00000400145.2_Start_Codon_SNP_p.M1I|DLGAP1_ENST00000581527.1_Intron|DLGAP1_ENST00000534970.1_Intron|DLGAP1_ENST00000478161.1_Intron|DLGAP1_ENST00000315677.3_Intron|DLGAP1_ENST00000581699.1_Intron|DLGAP1_ENST00000584874.1_Intron|DLGAP1_ENST00000400149.3_Intron	NM_001003809.2	NP_001003809.1	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	0					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.M1I(2)		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)				AAATTAAGTTCATTATTCATC	0.368000													18	122					0	0	0.624587	0	0
LIG1	3978	broad.mit.edu	37	19	48653355	48653355	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:48653355G>A	ENST00000263274.7	-	8	1106	c.687C>T	c.(685-687)agC>agT	p.S229S	LIG1_ENST00000427526.2_Silent_p.S198S|LIG1_ENST00000536218.1_Silent_p.S161S|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	229					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|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	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.S229S(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGAAGAAGCTGCTGAGCGTCT	0.612000								Nucleotide excision repair (NER)					5	91					0	0	0.278610	0	0
DCLK1	9201	broad.mit.edu	37	13	36700141	36700141	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:36700141C>A	ENST00000255448.4	-	2	345	c.134G>T	c.(133-135)cGc>cTc	p.R45L	DCLK1_ENST00000379892.4_Missense_Mutation_p.R45L|DCLK1_ENST00000360631.3_Missense_Mutation_p.R45L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	45					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	p.R45L(4)		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)		CTGCAGCGTGCGGGTGCGGTA	0.592000													35	42					5.73237e-09	6.56511e-09	0.819951	1	0
NFATC3	4775	broad.mit.edu	37	16	68225604	68225604	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:68225604G>A	ENST00000349223.5	+	9	3256	c.3032G>A	c.(3031-3033)aGc>aAc	p.S1011N	NFATC3_ENST00000329524.4_Missense_Mutation_p.S1011N|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.S1011N|NFATC3_ENST00000575270.1_Missense_Mutation_p.S1011N	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	1011					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.S1011N(4)		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)		GCAACTGTGAGCATTAAACCT	0.463000													101	137					0	0	0.870114	0	0
TRPC4	7223	broad.mit.edu	37	13	38266459	38266459	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:38266459G>T	ENST00000379705.3	-	4	1768	c.911C>A	c.(910-912)cCc>cAc	p.P304H	TRPC4_ENST00000379681.3_Missense_Mutation_p.P304H|TRPC4_ENST00000447043.1_Missense_Mutation_p.P304H|TRPC4_ENST00000358477.2_Missense_Mutation_p.P304H|TRPC4_ENST00000379679.1_Missense_Mutation_p.P131H|TRPC4_ENST00000426868.2_Missense_Mutation_p.P304H|TRPC4_ENST00000379673.2_Missense_Mutation_p.P304H|TRPC4_ENST00000355779.2_Missense_Mutation_p.P304H|TRPC4_ENST00000338947.5_Missense_Mutation_p.P131H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	304	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	p.P304H(4)		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)		TTGACAATTGGGCTGGGCAAC	0.438000													22	18					1.50039e-11	1.77843e-11	0.608945	1	0
SGK223	157285	broad.mit.edu	37	8	8234490	8234490	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:8234490C>T	ENST00000520004.1	-	3	1693	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T	SGK223_ENST00000330777.4_Missense_Mutation_p.A477T			Q86YV5	SG223_HUMAN		477							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCCGGGTGGGCCGCCATGACT	0.642000													3	12					0	0	0.115264	0	0
GBP3	2635	broad.mit.edu	37	1	89481013	89481013	+	Missense_Mutation	SNP	G	G	A	rs142900270	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:89481013G>A	ENST00000370481.4	-	3	495	c.275C>T	c.(274-276)aCc>aTc	p.T92I	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	92						integral to membrane	GTP binding|GTPase activity	p.T92I(2)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CAGGACTAAGGTGTGTTCTGG	0.458000													30	280					0	0	0.760397	0	0
FRY	10129	broad.mit.edu	37	13	32776615	32776615	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:32776615A>T	ENST00000380250.3	+	31	4465	c.3969A>T	c.(3967-3969)tcA>tcT	p.S1323S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.S1323S(2)		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)		CCCTCTTGTCATGTGAGCTGG	0.493000													39	66					0	0	0.840704	0	0
IMPG1	3617	broad.mit.edu	37	6	76728444	76728444	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:76728444G>A	ENST00000369950.3	-	7	987	c.798C>T	c.(796-798)tcC>tcT	p.S266S	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	266	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.S266S(2)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCTGAAGTTGGGACTTTCCTG	0.547000													21	94					0	0	0.608945	0	0
MASP1	5648	broad.mit.edu	37	3	186954049	186954049	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:186954049G>C	ENST00000296280.6	-	11	1835	c.1610C>G	c.(1609-1611)gCc>gGc	p.A537G	MASP1_ENST00000392472.2_Missense_Mutation_p.A424G|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	536	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.A537G(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CACCACTCGGGCAGCTGAGCT	0.567000													25	40					0	0	0.750413	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361663	105361663	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:105361663C>T	ENST00000297581.2	+	2	932	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	295					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.L295L(2)									AAACCTGGGGCTGTTTTTCCT	0.488000													75	191					0	0	0.870114	0	0
RNF126P1	376412	broad.mit.edu	37	17	55123079	55123079	+	RNA	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:55123079G>A	ENST00000567452.1	+	0	241					NR_002818.2																						GTTGGAGAACGCGGACCAGCA	0.602000													4	35					0	0	0.150653	0	0
ARAP2	116984	broad.mit.edu	37	4	36149346	36149346	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:36149346T>G	ENST00000303965.4	-	18	3512	c.3023A>C	c.(3022-3024)gAa>gCa	p.E1008A		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1008					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.E1008A(1)		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						TGTTAAGTTTTCAGCAAATAA	0.368000													5	42					0	0	0.278610	0	0
POTEH	23784	broad.mit.edu	37	22	16279286	16279286	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:16279286G>T	ENST00000343518.6	-	4	988	c.937C>A	c.(937-939)Ctg>Atg	p.L313M		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	313								p.L313M(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCAAGTAACAGTGGTGTGAGG	0.323000													21	370					4.72057e-08	5.33425e-08	0.667858	1	0
ZPBP2	124626	broad.mit.edu	37	17	38031554	38031554	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:38031554C>T	ENST00000377940.3	+	6	829	c.690C>T	c.(688-690)ttC>ttT	p.F230F	ZPBP2_ENST00000584588.1_Silent_p.F179F|ZPBP2_ENST00000348931.4_Silent_p.F252F	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	252					binding of sperm to zona pellucida	extracellular region		p.F252F(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			CATATATTTTCTACCATAACT	0.373000													6	77					0	0	0.217242	0	0
TRAV29DV5	28653	broad.mit.edu	37	14	22631522	22631522	+	RNA	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:22631522C>A	ENST00000390458.3	+	0	225																											CATCCCTGAGCGTCCAGGAAG	0.368000											OREG0022575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	9					2.17888e-05	2.33747e-05	0.335167	1	0
EXO1	9156	broad.mit.edu	37	1	242048689	242048689	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:242048689G>T	ENST00000366548.3	+	15	2878	c.2285G>T	c.(2284-2286)aGa>aTa	p.R762I	EXO1_ENST00000348581.5_Missense_Mutation_p.R762I|EXO1_ENST00000518483.1_Missense_Mutation_p.R762I	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	762	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	p.R762I(2)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GGACCTGCCAGAGCCAGTGGG	0.478000								Editing and processing nucleases					12	30					0.00244969	0.00253571	0.457914	1	0
RREB1	6239	broad.mit.edu	37	6	7240734	7240734	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:7240734G>C	ENST00000379938.2	+	11	4409	c.3872G>C	c.(3871-3873)cGc>cCc	p.R1291P	RREB1_ENST00000379933.3_Intron|RREB1_ENST00000349384.6_Intron|RREB1_ENST00000334984.6_Missense_Mutation_p.R1291P	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1272					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.R1291P(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AACTGTGAACGCCACCAGTTG	0.438000													43	153					0	0	0.870114	0	0
GHRHR	2692	broad.mit.edu	37	7	31010827	31010827	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:31010827C>G	ENST00000409904.3	+	2	526	c.268C>G	c.(268-270)Ctc>Gtc	p.L90V	GHRHR_ENST00000326139.2_Missense_Mutation_p.L154V|GHRHR_ENST00000409316.1_5'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	154					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	p.L154V(2)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CCTGGTTGCTCTCAGGTTTGT	0.493000													2	2					0	0	0.115264	0	0
MIR656	724026	broad.mit.edu	37	14	101533098	101533098	+	RNA	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:101533098T>A	ENST00000385224.1	+	0	38					NR_030392.1																						ACTTTCTATATGATGAATATT	0.522000													18	60					0	0	0.539581	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481535	140481535	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:140481535G>C	ENST00000231130.2	+	1	1302	c.1302G>C	c.(1300-1302)aaG>aaC	p.K434N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		434	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.K434N(2)		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)			TGAAAACCAAGTACAACATAA	0.562000													10	75					0	0	0.361761	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925681	114925681	+	Missense_Mutation	SNP	G	G	T	rs66702705		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:114925681G>T	ENST00000355995.4	+	15	2317	c.1810G>T	c.(1810-1812)Gcc>Tcc	p.A604S	TCF7L2_ENST00000543371.1_Missense_Mutation_p.A587S|TCF7L2_ENST00000536810.1_Missense_Mutation_p.A587S|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000369397.4_Missense_Mutation_p.A581S|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000542695.1_Missense_Mutation_p.A320S|TCF7L2_ENST00000545257.1_Missense_Mutation_p.A604S			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	604					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.A581S(2)|p.A587S(2)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CAGCTCCCTGGCCGGGACCCA	0.587000			T	VTI1A	colorectal								7	41					0.000157383	0.000166728	0.278610	1	0
SLITRK2	84631	broad.mit.edu	37	X	144906014	144906014	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:144906014C>A	ENST00000370490.1	+	1	6326	c.2071C>A	c.(2071-2073)Cct>Act	p.P691T	SLITRK2_ENST00000447897.2_Missense_Mutation_p.P691T|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P691T|SLITRK2_ENST00000434188.2_Missense_Mutation_p.P691T|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P691T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	691						integral to membrane		p.P691T(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TATCCCCCCACCTGTGGGTCA	0.468000													27	12					1.61788e-16	2.03511e-16	0.760397	1	0
SRCAP	10847	broad.mit.edu	37	16	30721220	30721220	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:30721220C>T	ENST00000262518.4	+	8	1290	c.905C>T	c.(904-906)aCg>aTg	p.T302M	SRCAP_ENST00000344771.4_Missense_Mutation_p.T302M|SRCAP_ENST00000395059.2_Missense_Mutation_p.T302M	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	302	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.T302M(2)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GATGAGGAAACGATTGAAGTT	0.532000													8	100					0	0	0.307466	0	0
MUC7	4589	broad.mit.edu	37	4	71346890	71346890	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:71346890A>C	ENST00000413702.1	+	4	717	c.429A>C	c.(427-429)gaA>gaC	p.E143D	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.E143D|MUC7_ENST00000456088.1_Missense_Mutation_p.E143D	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	143	Thr-rich.					extracellular region	protein binding	p.E143D(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CTTCAAGAGAAAATGTTAACA	0.458000													76	405					0	0	0.870114	0	0
USP9X	8239	broad.mit.edu	37	X	41000347	41000347	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:41000347A>G	ENST00000324545.7	+	8	1532	c.899A>G	c.(898-900)aAt>aGt	p.N300S	USP9X_ENST00000378308.2_Missense_Mutation_p.N300S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	300					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.N300S(2)|p.N293S(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAAGCAAAGAATGAAGCCAAA	0.299000													30	6					0	0	0.796494	0	0
LRRC8C	84230	broad.mit.edu	37	1	90178876	90178876	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:90178876G>T	ENST00000370454.4	+	3	1002	c.747G>T	c.(745-747)agG>agT	p.R249S	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	249						endoplasmic reticulum membrane|integral to membrane		p.R249S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AGAAGTTCAGGCTGCATGTGG	0.403000													60	122					1.88225e-35	2.59384e-35	0.870114	1	0
IGF2BP2-AS1	646600	broad.mit.edu	37	3	185431229	185431229	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:185431229T>C	ENST00000296270.1	+	1	150	c.14T>C	c.(13-15)cTa>cCa	p.L5P	IGF2BP2_ENST00000457616.2_Intron|IGF2BP2_ENST00000421047.2_Intron|IGF2BP2_ENST00000382199.2_Intron|IGF2BP2_ENST00000346192.3_Intron																		all_cancers(143;1.5e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GCAACACCACTAGATAACTGT	0.458000													22	85					0	0	0.693898	0	0
FCGBP	8857	broad.mit.edu	37	19	40367914	40367914	+	Splice_Site	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:40367914T>C	ENST00000221347.6	-	29	13053	c.13045_splice	c.e29-1	p.E4349_splice		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4349						extracellular region	protein binding	p.E4349G(2)		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)			GCAGGTGATCTCTGTGGGCAG	0.607000													29	56					0	0	0.740014	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611402	84611402	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:84611402G>T	ENST00000286744.5	+	18	2396	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.Q724H	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	724	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.Q724H(2)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGAATTCAGACCCGAGATG	0.532000													32	212					6.97489e-18	8.90579e-18	0.804634	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686243	125686243	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:125686243A>G	ENST00000371126.1	-	1	591	c.349T>C	c.(349-351)Tgt>Cgt	p.C117R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	117								p.C117R(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCGTGTTACACTTGGTGCCG	0.642000													20	49					0	0	0.639603	0	0
MBD1	4152	broad.mit.edu	37	18	47799766	47799766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:47799766C>A	ENST00000591416.1	-	13	1953	c.1522G>T	c.(1522-1524)Gag>Tag	p.E508*	MBD1_ENST00000398488.1_Intron|MBD1_ENST00000398495.2_Nonsense_Mutation_p.E477*|MBD1_ENST00000382948.5_Nonsense_Mutation_p.E508*|MBD1_ENST00000353909.3_Nonsense_Mutation_p.E459*|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000347968.3_Nonsense_Mutation_p.E452*|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000398493.1_Nonsense_Mutation_p.E452*|MBD1_ENST00000585672.1_Nonsense_Mutation_p.E458*|MBD1_ENST00000585595.1_Nonsense_Mutation_p.E533*|MBD1_ENST00000457839.2_Nonsense_Mutation_p.E533*|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000424334.2_Nonsense_Mutation_p.E559*|MBD1_ENST00000269468.5_Nonsense_Mutation_p.E508*|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000590208.1_Nonsense_Mutation_p.E508*|MBD1_ENST00000588937.1_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	508					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.E533*(2)|p.E508*(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GGTGTCCACTCGTCCTGGGTA	0.607000													28	126					3.73148e-12	4.45412e-12	0.717897	1	0
PACRG	135138	broad.mit.edu	37	6	163483243	163483243	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:163483243A>C	ENST00000337019.3	+	4	577	c.353A>C	c.(352-354)gAa>gCa	p.E118A	PACRG_ENST00000366889.2_Missense_Mutation_p.E118A|PACRG_ENST00000366888.2_Missense_Mutation_p.E118A	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	118								p.E118A(2)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GGGCTTTGTGAAATGACATTT	0.433000													38	108					0	0	0.827153	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254961	30254961	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:30254961A>T	ENST00000361644.2	+	5	1657	c.920A>T	c.(919-921)tAt>tTt	p.Y307F	MAGEB3_ENST00000378986.1_Missense_Mutation_p.Y307F	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	307	MAGE.							p.Y307V(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CAGTTCTGGTATGAAGAGGCT	0.512000													11	21					0	0	0.387290	0	0
MAP3K9	4293	broad.mit.edu	37	14	71197442	71197442	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:71197442C>A	ENST00000554752.2	-	12	2969	c.2970G>T	c.(2968-2970)gaG>gaT	p.E990D	MAP3K9_ENST00000381250.4_Missense_Mutation_p.E967D|MAP3K9_ENST00000553414.1_Missense_Mutation_p.E723D|MAP3K9_ENST00000554146.1_Missense_Mutation_p.E718D|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E1004D			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	990					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E1004D(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGCAGAAACTCCAGAGTCT	0.627000													31	26					2.68265e-12	3.20783e-12	0.769981	1	0
PRDM9	56979	broad.mit.edu	37	5	23522757	23522757	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:23522757C>T	ENST00000296682.3	+	8	827	c.645C>T	c.(643-645)agC>agT	p.S215S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	215					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.S215S(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCATTGACAGCTGTGCTGCCC	0.502000										HNSCC(3;0.000094)			12	57					0	0	0.387290	0	0
SLC12A5	57468	broad.mit.edu	37	20	44671860	44671860	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:44671860C>A	ENST00000454036.1	+	9	1280	c.1204C>A	c.(1204-1206)Ctg>Atg	p.L402M	SLC12A5_ENST00000243964.3_Missense_Mutation_p.L379M|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	402					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.L379M(2)		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)	CTCGGTGGGCCTGGCCGATGG	0.577000													55	560					1.1362e-29	1.53454e-29	0.870114	1	0
SLC5A8	160728	broad.mit.edu	37	12	101576622	101576622	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:101576622G>A	ENST00000536262.2	-	9	1682	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	375					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.S375L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTCTGAGAGCGATCTGAAGTA	0.368000													33	112					0	0	0.819951	0	0
USP33	23032	broad.mit.edu	37	1	78205041	78205041	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:78205041C>A	ENST00000370793.1	-	6	699	c.353G>T	c.(352-354)aGc>aTc	p.S118I	USP33_ENST00000370794.3_Missense_Mutation_p.S87I|USP33_ENST00000357428.1_Missense_Mutation_p.S118I|USP33_ENST00000370792.3_Missense_Mutation_p.S118I|USP33_ENST00000528150.1_5'UTR	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	118					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.S118I(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TACTTCTTTGCTGCAAGCATA	0.378000													7	137					0.00307968	0.00317812	0.278610	1	0
EEF1A1	1915	broad.mit.edu	37	6	74228549	74228549	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:74228549T>C	ENST00000316292.9	-	4	1635	c.644A>G	c.(643-645)aAa>aGa	p.K215R	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.K215R|EEF1A1_ENST00000309268.6_Missense_Mutation_p.K215R	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	215						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.K215R(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACGGGTGACTTTCCATCCCTT	0.502000											OREG0003891|OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	14	24					0	0	0.557998	0	0
TTN	7273	broad.mit.edu	37	2	179639767	179639767	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:179639767G>T	ENST00000589042.1	-	29	6895	c.6671C>A	c.(6670-6672)tCt>tAt	p.S2224Y	TTN_ENST00000360870.5_Missense_Mutation_p.S2224Y|TTN_ENST00000359218.5_Missense_Mutation_p.S2178Y|TTN_ENST00000591111.1_Missense_Mutation_p.S2224Y|TTN_ENST00000460472.2_Missense_Mutation_p.S2178Y|TTN_ENST00000342992.6_Missense_Mutation_p.S2224Y|TTN_ENST00000342175.6_Missense_Mutation_p.S2178Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1961	Ig-like 11.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S2178Y(6)|p.S2224Y(6)		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)			CTTTCTGTCAGAGTGCATCCT	0.398000													46	113					2.81731e-22	3.709e-22	0.870114	1	0
RALYL	138046	broad.mit.edu	37	8	85785599	85785599	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:85785599G>C	ENST00000521268.1	+	7	1757	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	RALYL_ENST00000521695.1_Missense_Mutation_p.E218Q|RALYL_ENST00000518566.1_Missense_Mutation_p.E207Q|RALYL_ENST00000517638.1_Missense_Mutation_p.E231Q|RALYL_ENST00000522455.1_Missense_Mutation_p.E218Q|RALYL_ENST00000521376.1_Missense_Mutation_p.E129Q|RALYL_ENST00000523850.1_Missense_Mutation_p.E145Q	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	218							identical protein binding|nucleotide binding|RNA binding	p.E218Q(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AGGGCGCCTGGAGAAGATTGA	0.433000													4	51					0	0	0.217242	0	0
KEL	3792	broad.mit.edu	37	7	142640627	142640627	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:142640627A>G	ENST00000355265.2	-	15	2123	c.1649T>C	c.(1648-1650)gTa>gCa	p.V550A		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	550					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.V550A(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGAAAGACTACCACATGGTC	0.547000													62	316					0	0	0.870114	0	0
OSBPL8	114882	broad.mit.edu	37	12	76786490	76786490	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:76786490G>A	ENST00000261183.3	-	10	1279	c.800C>T	c.(799-801)tCt>tTt	p.S267F	OSBPL8_ENST00000393249.2_Missense_Mutation_p.S225F|OSBPL8_ENST00000393250.4_Missense_Mutation_p.S225F	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	267					lipid transport		lipid binding	p.S267F(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AAGAAGACTAGAACATTTCAA	0.383000													15	93					0	0	0.500413	0	0
HIVEP2	3097	broad.mit.edu	37	6	143080972	143080972	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:143080972G>C	ENST00000367603.2	-	9	7195	c.6453C>G	c.(6451-6453)taC>taG	p.Y2151*	HIVEP2_ENST00000367604.1_Nonsense_Mutation_p.Y2151*|HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.Y2151*	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y2151*(2)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTGGGTTATGGTATAAAGCCC	0.438000													18	128					0	0	0.520397	0	0
RPS15	6209	broad.mit.edu	37	19	1440170	1440170	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:1440170G>A	ENST00000591804.2	+	4	469	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	RPS15_ENST00000586096.2_Missense_Mutation_p.R81Q|RPS15_ENST00000233609.4_Missense_Mutation_p.R54Q|RPS15_ENST00000586686.2_Missense_Mutation_p.R81Q|RPS15_ENST00000585665.1_Missense_Mutation_p.R48Q|RPS15_ENST00000589656.2_Missense_Mutation_p.R81Q|RPS15_ENST00000593052.1_Missense_Mutation_p.R88Q|RPS15_ENST00000591032.1_Missense_Mutation_p.R48Q			P62841	RS15_HUMAN	ribosomal protein S15	81					endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|protein binding|RNA binding	p.R81Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		ACGCACCTGCGGGACATGATC	0.637000													4	10					0	0	0.184627	0	0
ACBD4	79777	broad.mit.edu	37	17	43215142	43215142	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:43215142G>A	ENST00000431281.1	+	9	1025	c.556G>A	c.(556-558)Ggg>Agg	p.G186R	ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000398322.3_Missense_Mutation_p.R173K|ACBD4_ENST00000592162.1_Missense_Mutation_p.R173K|ACBD4_ENST00000321854.8_Missense_Mutation_p.R173K|ACBD4_ENST00000591859.1_Missense_Mutation_p.G186R|ACBD4_ENST00000376955.4_Missense_Mutation_p.R173K|ACBD4_ENST00000586346.1_Missense_Mutation_p.G186R	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	169							fatty-acyl-CoA binding	p.R173K(2)|p.G186R(2)		kidney(1)|lung(3)|ovary(1)	5						CATTCACCCAGGGACCTGGAC	0.597000													12	36					0	0	0.479597	0	0
ZNF80	7634	broad.mit.edu	37	3	113955524	113955524	+	Missense_Mutation	SNP	T	T	C	rs143330045		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:113955524T>C	ENST00000482457.2	-	1	901	c.398A>G	c.(397-399)tAt>tGt	p.Y133C		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	133						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y133C(2)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GCTGCACTCATAGGGCTTCTC	0.537000													4	57					0	0	0.150653	0	0
NMBR	4829	broad.mit.edu	37	6	142397123	142397123	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:142397123A>T	ENST00000258042.1	-	3	975	c.835T>A	c.(835-837)Tgg>Agg	p.W279R		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	279					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	p.W279R(2)		breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTTGGAAACCAACAGAAGATG	0.413000													20	71					0	0	0.624587	0	0
TTC7A	57217	broad.mit.edu	37	2	47256494	47256494	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:47256494G>T	ENST00000319190.5	+	15	2141	c.1773G>T	c.(1771-1773)atG>atT	p.M591I	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.M557I|TTC7A_ENST00000394850.2_Missense_Mutation_p.M591I|TTC7A_ENST00000263737.6_Missense_Mutation_p.M237I	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	591							binding	p.M591I(1)|p.M591_A592>IS(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TTGTCAACATGGCCATCACCG	0.617000													11	39					0.000151284	0.000160518	0.435327	1	0
TTN	7273	broad.mit.edu	37	2	179497651	179497651	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:179497651C>A	ENST00000589042.1	-	234	43431	c.43207G>T	c.(43207-43209)Gtg>Ttg	p.V14403L	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V5463L|TTN_ENST00000591111.1_Missense_Mutation_p.V12762L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V5338L|TTN_ENST00000342992.6_Missense_Mutation_p.V11835L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V5530L|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12762							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V11835L(4)|p.V5463L(2)|p.V5530L(2)|p.V5338L(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACCTTTCACTTTCAGATTG	0.438000													21	167					0.000295444	0.000312011	0.624587	1	0
SURF4	6836	broad.mit.edu	37	9	136230446	136230446	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:136230446C>A	ENST00000371989.3	-	6	862	c.733G>T	c.(733-735)Gtg>Ttg	p.V245L	SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000485435.2_Intron	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	245						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	p.V245L(2)		kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CCCCCAATCACCGACATGGTC	0.532000													3	27					0.115264	0.11612	0.115264	1	0
SLC26A5	375611	broad.mit.edu	37	7	103017307	103017307	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:103017307A>T	ENST00000306312.3	-	19	2250	c.1989T>A	c.(1987-1989)atT>atA	p.I663I	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000432958.2_Silent_p.I631I|SLC26A5_ENST00000393723.1_Silent_p.I633I|SLC26A5_ENST00000393727.1_Silent_p.I665I|SLC26A5_ENST00000393729.1_Silent_p.I626I|SLC26A5_ENST00000393730.1_Silent_p.I631I|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Silent_p.I96I|SLC26A5_ENST00000339444.6_Silent_p.I663I	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	663	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.I663I(4)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATTCTTTTACAATCTGTAATA	0.323000													21	90					0	0	0.624587	0	0
COX10-AS1	100874058	broad.mit.edu	37	17	13928500	13928500	+	RNA	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:13928500C>G	ENST00000602743.1	-	0	224																											TGCCCCTAGTCCTGGGCACGG	0.607000													4	10					0	0	0.150653	0	0
LCE3A	353142	broad.mit.edu	37	1	152595433	152595433	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:152595433C>G	ENST00000335674.1	-	1	146	c.147G>C	c.(145-147)ctG>ctC	p.L49L		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	49					keratinization			p.L49L(2)		endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGTGACTCAGGCAGCAGC	0.657000													16	147					0	0	0.500413	0	0
TROAP	10024	broad.mit.edu	37	12	49719372	49719372	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:49719372G>T	ENST00000551245.1	+	4	537	c.426G>T	c.(424-426)ggG>ggT	p.G142G	TROAP_ENST00000257909.3_Silent_p.G142G			Q12815	TROAP_HUMAN	trophinin associated protein	142					cell adhesion	cytoplasm		p.G142G(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GTCACCTGGGGCGCCAGCCTA	0.582000													10	54					1.5842e-08	1.80216e-08	0.435327	1	0
OTUD7A	161725	broad.mit.edu	37	15	31862303	31862303	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:31862303A>G	ENST00000382902.1	-	2	341	c.249T>C	c.(247-249)ggT>ggC	p.G83G	OTUD7A_ENST00000307050.4_Silent_p.G83G			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	83						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.G83G(2)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCTGCTTGGGACCCCGCCCTT	0.622000													16	103					0	0	0.520397	0	0
VPS13C	54832	broad.mit.edu	37	15	62232916	62232916	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:62232916C>T	ENST00000261517.5	-	47	5604	c.5531G>A	c.(5530-5532)cGa>cAa	p.R1844Q	VPS13C_ENST00000249837.3_Missense_Mutation_p.R1801Q|VPS13C_ENST00000395896.4_Missense_Mutation_p.R1844Q|VPS13C_ENST00000395898.3_Missense_Mutation_p.R1801Q	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1844					protein localization			p.R1844Q(2)		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						TGCTAAGTTTCGCTGTATGGA	0.338000													18	77					0	0	0.639603	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181273	57181273	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:57181273G>T	ENST00000504228.1	+	6	1710	c.1605G>T	c.(1603-1605)cgG>cgT	p.R535R	KIAA1211_ENST00000264229.6_Silent_p.R535R|KIAA1211_ENST00000541073.1_Silent_p.R528R			Q6ZU35	K1211_HUMAN	KIAA1211	535								p.R535R(2)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCATGCCCCGGCCCTACACGT	0.642000													15	24					3.52763e-06	3.84523e-06	0.520397	1	0
SLC45A3	85414	broad.mit.edu	37	1	205631992	205631992	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:205631992C>G	ENST00000367145.3	-	3	1222	c.927G>C	c.(925-927)ccG>ccC	p.P309P		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	309					transmembrane transport	integral to membrane		p.P309P(2)	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)			CCTCGGTGCCCGGCTCAGCTC	0.632000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								14	57					0	0	0.457914	0	0
DDX60L	91351	broad.mit.edu	37	4	169348279	169348279	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:169348279A>T	ENST00000511577.1	-	14	2119	c.1872T>A	c.(1870-1872)gtT>gtA	p.V624V	DDX60L_ENST00000260184.7_Silent_p.V624V|DDX60L_ENST00000505890.1_Silent_p.V624V			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	624							ATP binding|ATP-dependent helicase activity|RNA binding	p.V624V(2)		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)		CTAACATTTCAACTCCAAATT	0.343000													4	12					0	0	0.150653	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21349976	21349976	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:21349976C>A	ENST00000256958.2	+	8	920	c.824C>A	c.(823-825)cCa>cAa	p.P275Q		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	275					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.P275Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TCTTCCATACCATTCTTTTTC	0.393000													23	334					3.08376e-08	3.49631e-08	0.654019	1	0
HDGFL1	154150	broad.mit.edu	37	6	22569979	22569979	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:22569979T>A	ENST00000510882.2	+	1	185	c.175T>A	c.(175-177)Tac>Aac	p.Y59N	HDGFL1_ENST00000230012.3_Missense_Mutation_p.Y59N			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	59	PWWP.							p.Y59N(2)		kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					CCTGTTCCCGTACAAGGAGTG	0.617000													10	18					0	0	0.387290	0	0
DSG3	1830	broad.mit.edu	37	18	29055815	29055815	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:29055815T>A	ENST00000257189.4	+	16	2675	c.2592T>A	c.(2590-2592)gaT>gaA	p.D864E		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	864					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.D864E(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTGGTGTTGATGGTGAAGGCA	0.448000													10	83					0	0	0.411799	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434278	42434278	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:42434278G>A	ENST00000397272.3	-	20	2551	c.2460C>T	c.(2458-2460)ctC>ctT	p.L820L	PLA2G4F_ENST00000382396.4_Silent_p.L818L	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	818	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	p.L818L(2)		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)		TGTATCGACTGAGGGCCACCA	0.587000													10	61					0	0	0.387290	0	0
TMEM39A	55254	broad.mit.edu	37	3	119155826	119155826	+	Splice_Site	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:119155826C>G	ENST00000319172.5	-	7	1345		c.e7-1			NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A							integral to membrane		p.?(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ACTGGGTACTCTGGAAGAGAT	0.473000													92	352					0	0	0.870114	0	0
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413000													4	21					0	0	0.278610	0	0
LRP1B	53353	broad.mit.edu	37	2	141032165	141032165	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:141032165C>A	ENST00000389484.3	-	85	13941	c.12970G>T	c.(12970-12972)Gtg>Ttg	p.V4324L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4324	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V4324L(2)		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)		TGGTGGCACACGTCTAGGAAA	0.353000										TSP Lung(27;0.18)			36	48					6.02501e-08	6.78565e-08	0.819951	1	0
FAF2	23197	broad.mit.edu	37	5	175919294	175919294	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:175919294G>A	ENST00000261942.6	+	5	497	c.444G>A	c.(442-444)ggG>ggA	p.G148G		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	148					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	p.G148G(2)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGAAATATGGGAGGGCACACC	0.488000													8	50					0	0	0.307466	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686656	108686656	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:108686656C>T	ENST00000312143.7	-	3	447	c.84G>A	c.(82-84)ttG>ttA	p.L28L	CMKLR1_ENST00000550402.1_Silent_p.L28L|CMKLR1_ENST00000397688.2_Silent_p.L26L|CMKLR1_ENST00000412676.1_Silent_p.L28L|CMKLR1_ENST00000552995.1_Silent_p.L26L	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	28					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.L26L(2)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ATAAGTCCTCCAAAACCACAA	0.493000													18	104					0	0	0.575678	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39564867	39564867	+	RNA	SNP	A	A	G	rs17658063	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:39564867A>G	ENST00000432258.1	+	0	281				AC003958.2_ENST00000430006.1_RNA																							TCAATGCATCACACCAAGGGT	0.547000													3	16					0	0	0.150653	0	0
NTRK3	4916	broad.mit.edu	37	15	88678465	88678465	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:88678465C>A	ENST00000394480.1	-	10	1392	c.1071G>T	c.(1069-1071)gaG>gaT	p.E357D	NTRK3_ENST00000558676.1_Missense_Mutation_p.E357D|NTRK3_ENST00000360948.2_Missense_Mutation_p.E357D|NTRK3_ENST00000557856.1_Missense_Mutation_p.E357D|NTRK3_ENST00000542733.2_Missense_Mutation_p.E259D|NTRK3_ENST00000357724.2_Missense_Mutation_p.E357D|NTRK3_ENST00000355254.2_Missense_Mutation_p.E357D|NTRK3_ENST00000317501.3_Missense_Mutation_p.E357D|NTRK3_ENST00000540489.2_Missense_Mutation_p.E357D	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	357	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E357D(6)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCGGAAATCTCTCCCTCTT	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			23	98					1.1804e-14	1.442e-14	0.667858	1	0
AMIGO2	347902	broad.mit.edu	37	12	47471976	47471976	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:47471976A>G	ENST00000266581.4	-	2	1276	c.810T>C	c.(808-810)cgT>cgC	p.R270R	AMIGO2_ENST00000429635.1_Silent_p.R270R|AMIGO2_ENST00000550413.1_Silent_p.R270R|AMIGO2_ENST00000321382.3_Silent_p.R270R	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	270	LRRCT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		p.R270R(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GAAGTACCTGACGCGAGTGCC	0.493000													5	70					0	0	0.184627	0	0
LIN9	286826	broad.mit.edu	37	1	226426782	226426782	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:226426782G>A	ENST00000328205.5	-	12	1728	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S	LIN9_ENST00000366801.1_Missense_Mutation_p.P344S|LIN9_ENST00000481685.1_Missense_Mutation_p.P360S	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	379					cell cycle|DNA replication	nucleoplasm		p.P395S(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATGCTGATGGGCATGGAATAT	0.343000													12	89					0	0	0.435327	0	0
POU6F2	11281	broad.mit.edu	37	7	39243834	39243834	+	Splice_Site	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:39243834G>C	ENST00000518318.2	+	3	233	c.190_splice	c.e3-1	p.G64_splice	POU6F2_ENST00000559001.1_Splice_Site_p.G56_splice|POU6F2_ENST00000403058.1_Splice_Site_p.G64_splice|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	64					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G64A(2)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TGAATTCCAGGGGCTAGAGGA	0.473000													16	58					0	0	0.520397	0	0
CCDC178	374864	broad.mit.edu	37	18	30554589	30554589	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:30554589C>A	ENST00000383096.3	-	22	2627	c.2445G>T	c.(2443-2445)gtG>gtT	p.V815V	CCDC178_ENST00000583930.1_Silent_p.V839V|CCDC178_ENST00000406524.2_Silent_p.V839V|CCDC178_ENST00000403303.1_Silent_p.V815V|CCDC178_ENST00000579916.1_Silent_p.V135V|CCDC178_ENST00000402325.1_Silent_p.V765V|CCDC178_ENST00000581852.1_Silent_p.V20V|CCDC178_ENST00000300227.8_Silent_p.V777V|CCDC178_ENST00000579947.1_Silent_p.V815V					coiled-coil domain containing 178									p.V777V(2)|p.V815V(2)									TGAAGAGGACCACCAGTTTGA	0.512000													16	38					7.07596e-05	7.55512e-05	0.539581	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73149304	73149304	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:73149304G>A	ENST00000286657.4	-	22	3203	c.3167C>T	c.(3166-3168)aCc>aTc	p.T1056I		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1056					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.T1056I(2)		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)			TGGTGGCAGGGTGCTACTGCG	0.463000													99	213					0	0	0.870114	0	0
MS4A7	58475	broad.mit.edu	37	11	60150636	60150636	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:60150636A>G	ENST00000358246.1	+	2	215	c.22A>G	c.(22-24)Atg>Gtg	p.M8V	MS4A7_ENST00000300184.3_Missense_Mutation_p.M8V|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Missense_Mutation_p.M8V|MS4A7_ENST00000534016.1_Missense_Mutation_p.M8V	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	8						integral to membrane	receptor activity	p.M8V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ATCCCAAACCATGGGGGTTTC	0.453000													69	244					0	0	0.870114	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21350017	21350017	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:21350017G>A	ENST00000256958.2	+	8	961	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	289					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.E289K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ACCACAAAAAGAAAGAAAAGC	0.353000													16	292					0	0	0.539581	0	0
UBR1	197131	broad.mit.edu	37	15	43258422	43258422	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:43258422G>A	ENST00000290650.4	-	41	4598	c.4520C>T	c.(4519-4521)cCt>cTt	p.P1507L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1507					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	p.P1507L(1)		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)		GCGAAGATAAGGGGTGATGCC	0.433000													6	127					0	0	0.278610	0	0
ST14	6768	broad.mit.edu	37	11	130058061	130058061	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:130058061A>G	ENST00000278742.5	+	2	552	c.134A>G	c.(133-135)aAg>aGg	p.K45R		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	45					proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.K45R(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AACAACGTCAAGAAGGTGGAA	0.617000													15	25					0	0	0.500413	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683293	84683293	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:84683293G>T	ENST00000286744.5	+	24	4197		c.e24-1		ADAMTSL3_ENST00000567476.1_Splice_Site	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3							proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.?(2)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGTTCCAAAGGTGTCCCTCA	0.413000													28	257					4.74835e-14	5.7489e-14	0.750413	1	0
PDILT	204474	broad.mit.edu	37	16	20410590	20410590	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:20410590C>T	ENST00000302451.4	-	2	281	c.33G>A	c.(31-33)gtG>gtA	p.V11V		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	11					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.V11V(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CACAAGCGGCCACCAGCAGCA	0.587000													47	296					0	0	0.870114	0	0
RGS1	5996	broad.mit.edu	37	1	192547444	192547444	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:192547444G>A	ENST00000367459.3	+	4	439	c.373G>A	c.(373-375)Gag>Aag	p.E125K	RGS1_ENST00000469578.2_Missense_Mutation_p.E125K	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	125	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.E125R(1)|p.E125K(1)|p.E112R(1)|p.E112K(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TAAGAAAACAGAGTCTGATCT	0.363000													59	157					0	0	0.870114	0	0
TP53	7157	broad.mit.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:7577551C>A	ENST00000420246.2	-	7	862	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	TP53_ENST00000359597.4_Missense_Mutation_p.G244C|TP53_ENST00000269305.4_Missense_Mutation_p.G244C|TP53_ENST00000413465.2_Missense_Mutation_p.G244C|TP53_ENST00000445888.2_Missense_Mutation_p.G244C|TP53_ENST00000455263.2_Missense_Mutation_p.G244C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCATGCCGCCCATGCAGGAA	0.582000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			198	180					4.73494e-77	6.73017e-77	0.870114	1	0
GABRB3	2562	broad.mit.edu	37	15	26806314	26806314	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:26806314G>T	ENST00000541819.2	-	9	1115	c.1013C>A	c.(1012-1014)aCt>aAt	p.T338N	GABRB3_ENST00000545868.1_Missense_Mutation_p.T197N|GABRB3_ENST00000311550.5_Missense_Mutation_p.T282N|GABRB3_ENST00000299267.4_Missense_Mutation_p.T282N|GABRB3_ENST00000400188.3_Missense_Mutation_p.T211N			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	282					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	p.T282N(4)|p.T338N(2)		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)	TGTCAGCACAGTTGTGATCCC	0.438000													24	225					5.77227e-19	7.45448e-19	0.729181	1	0
FKBP3	2287	broad.mit.edu	37	14	45603642	45603642	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:45603642T>A	ENST00000216330.3	-	2	428	c.18A>T	c.(16-18)ccA>ccT	p.P6P	FKBP3_ENST00000396062.3_Silent_p.P6P			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	6					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity	p.P6P(2)		NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						ACGCCCGCTGTGGAACGGCCG	0.667000													29	37					0	0	0.834066	0	0
FAP	2191	broad.mit.edu	37	2	163055370	163055370	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:163055370A>T	ENST00000188790.4	-	16	1506	c.1299T>A	c.(1297-1299)ccT>ccA	p.P433P	FAP_ENST00000443424.1_Silent_p.P408P	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	433					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.P433P(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TCTTGCTTGGAGGATAGCTTC	0.373000													12	109					0	0	0.387290	0	0
EMCN	51705	broad.mit.edu	37	4	101344211	101344211	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:101344211C>T	ENST00000296420.4	-	7	713	c.535G>A	c.(535-537)Gca>Aca	p.A179T	EMCN_ENST00000305864.3_Intron|EMCN_ENST00000511970.1_Missense_Mutation_p.A166T	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	179						extracellular region|integral to membrane|plasma membrane		p.A179T(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		GAAGTGCTTGCATTTTTTCCA	0.418000													39	124					0	0	0.870114	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2307157	2307157	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:2307157C>T	ENST00000290974.2	-	8	1249	c.910G>A	c.(910-912)Gct>Act	p.A304T	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A234T|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A274T	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	304					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.A304T(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCCAGGGCAGCGGGTCCCTGC	0.657000													5	9					0	0	0.217242	0	0
KIF21A	55605	broad.mit.edu	37	12	39716581	39716581	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:39716581G>A	ENST00000395670.3	-	26	3979	c.3560C>T	c.(3559-3561)aCa>aTa	p.T1187I	KIF21A_ENST00000361418.5_Missense_Mutation_p.T1187I|KIF21A_ENST00000361961.3_Missense_Mutation_p.T1174I|KIF21A_ENST00000544797.2_Missense_Mutation_p.T1167I|KIF21A_ENST00000541463.2_Missense_Mutation_p.T1151I			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1187					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.T1174I(2)		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)				TGCAACAGGTGTGAGAGGGCC	0.498000													55	509					0	0	0.870114	0	0
HECW2	57520	broad.mit.edu	37	2	197182014	197182014	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:197182014G>T	ENST00000260983.2	-	10	2600	c.2418C>A	c.(2416-2418)gaC>gaA	p.D806E	HECW2_ENST00000409111.1_Missense_Mutation_p.D450E	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	806	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.D806E(2)		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						GGAGAGCCTCGTCCACCCTCT	0.522000													12	33					0.000151284	0.000160518	0.435327	1	0
SLC7A14	57709	broad.mit.edu	37	3	170216672	170216672	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:170216672C>A	ENST00000231706.4	-	4	858	c.541_splice	c.e4-1	p.G181_splice	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	181						integral to membrane	amino acid transmembrane transporter activity	p.G181G(3)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CTTCACCTTTCCCTAGAGAGG	0.488000													27	78					4.22769e-11	4.99369e-11	0.706142	1	0
OLFM3	118427	broad.mit.edu	37	1	102271669	102271669	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:102271669C>A	ENST00000370103.4	-	5	875	c.662G>T	c.(661-663)tGg>tTg	p.W221L	OLFM3_ENST00000338858.5_Missense_Mutation_p.W241L|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	241	Olfactomedin-like.					extracellular region		p.W221L(2)|p.W241L(2)		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)		GTCTGTCATCCAAGCACCAAA	0.408000													19	120					6.44725e-10	7.45945e-10	0.624587	1	0
OTX2	5015	broad.mit.edu	37	14	57268677	57268677	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:57268677C>T	ENST00000339475.5	-	5	946	c.670G>A	c.(670-672)Ggg>Agg	p.G224R	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.G216R|OTX2_ENST00000555006.1_Missense_Mutation_p.G216R	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	216					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E 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	p.G224R(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					AGTGTGGCCCCTGGTCCGGGA	0.527000													4	30					0	0	0.150653	0	0
NPAT	4863	broad.mit.edu	37	11	108040747	108040747	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:108040747G>C	ENST00000278612.8	-	14	2914	c.2809C>G	c.(2809-2811)Cca>Gca	p.P937A		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	937					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.P937A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GGCTGGACTGGAGAGGCAATT	0.383000													97	111					0	0	0.870114	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118203902	118203902	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:118203902A>G	ENST00000369230.3	+	4	479	c.333A>G	c.(331-333)ctA>ctG	p.L111L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	111					lipid catabolic process	extracellular region	triglyceride lipase activity	p.L111L(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AGGTGTTGCTACAGCTGGAAG	0.358000													9	30					0	0	0.307466	0	0
NCDN	23154	broad.mit.edu	37	1	36029491	36029491	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:36029491G>A	ENST00000373243.2	+	6	2117	c.1734G>A	c.(1732-1734)cgG>cgA	p.R578R	NCDN_ENST00000356090.4_Silent_p.R578R|NCDN_ENST00000373253.3_Silent_p.R561R	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	578					neuron projection development	cytosol|dendrite|neuronal cell body		p.R561R(2)|p.R578R(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCATGGCCCGGCTCCTTAGCA	0.572000													14	20					0	0	0.435327	0	0
HVCN1	84329	broad.mit.edu	37	12	111099066	111099066	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:111099066G>A	ENST00000356742.5	-	3	962	c.209C>T	c.(208-210)gCa>gTa	p.A70V	HVCN1_ENST00000548312.1_Missense_Mutation_p.A70V|HVCN1_ENST00000439744.2_Missense_Mutation_p.A50V|HVCN1_ENST00000242607.8_Missense_Mutation_p.A70V			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	70					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	p.A70V(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GTCAGGGGCTGCAGCTCTGCC	0.607000													12	68					0	0	0.539581	0	0
ACTN2	88	broad.mit.edu	37	1	236889278	236889278	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:236889278C>A	ENST00000366578.4	+	5	660	c.494C>A	c.(493-495)aCt>aAt	p.T165N	ACTN2_ENST00000542672.1_Missense_Mutation_p.T165N|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	165	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.T165N(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CAGAGGAAAACTGCTCCTTAT	0.478000													10	233					9.31168e-06	1.00691e-05	0.435327	1	0
SCN2A	6326	broad.mit.edu	37	2	166201299	166201299	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:166201299C>A	ENST00000375437.2	+	16	3087	c.2797C>A	c.(2797-2799)Ctg>Atg	p.L933M	SCN2A_ENST00000375427.2_Missense_Mutation_p.L933M|SCN2A_ENST00000283256.6_Missense_Mutation_p.L933M|SCN2A_ENST00000357398.3_Missense_Mutation_p.L933M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	933					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L933M(2)		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)	CCACTCCTTCCTGATCGTGTT	0.493000													174	459					4.75969e-86	6.80816e-86	0.870114	1	0
FAM47C	442444	broad.mit.edu	37	X	37028810	37028810	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:37028810C>A	ENST00000358047.3	+	1	2379	c.2327C>A	c.(2326-2328)cCa>cAa	p.P776Q		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	776								p.P776Q(4)		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						CATCTCCACCCAGAGCTTCCC	0.632000													7	5					0.00448238	0.00461162	0.307466	1	0
RYR2	6262	broad.mit.edu	37	1	237948113	237948113	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:237948113G>T	ENST00000366574.2	+	90	13418	c.13101G>T	c.(13099-13101)aaG>aaT	p.K4367N	RYR2_ENST00000360064.6_Missense_Mutation_p.K4373N|RYR2_ENST00000542537.1_Missense_Mutation_p.K4351N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4367					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	p.K4365_E4366>N*(2)		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)			CCGACTTAAAGGAGCTGACAG	0.532000													51	91					2.2129e-31	3.01274e-31	0.870114	1	0
OR8K5	219453	broad.mit.edu	37	11	55927514	55927514	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:55927514A>T	ENST00000313447.1	-	1	279	c.280T>A	c.(280-282)Tat>Aat	p.Y94N		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y94N(2)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CATGCATAATAGGAAATAGTA	0.403000													78	164					0	0	0.870114	0	0
EDNRB	1910	broad.mit.edu	37	13	78492316	78492316	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:78492316G>C	ENST00000377211.4	-	2	815	c.663C>G	c.(661-663)tgC>tgG	p.C221W	EDNRB_ENST00000446573.1_Missense_Mutation_p.C131W|EDNRB_ENST00000334286.5_Missense_Mutation_p.C131W	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	131					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.C131W(2)|p.C221W(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CGTTTCGCATGCACTTGTTCT	0.483000													78	30					0	0	0.870114	0	0
SPG20	23111	broad.mit.edu	37	13	36909952	36909952	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:36909952G>C	ENST00000451493.1	-	2	233	c.16C>G	c.(16-18)Caa>Gaa	p.Q6E	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.Q6E|SPG20_ENST00000494062.2_Missense_Mutation_p.Q6E|SPG20_ENST00000355182.4_Missense_Mutation_p.Q6E	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	6					cell death	cytoplasm	ubiquitin protein ligase binding	p.Q6E(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TCTCCATTTTGTGGCTCTTGC	0.323000													23	60					0	0	0.740014	0	0
OR10A3	26496	broad.mit.edu	37	11	7961052	7961052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:7961052G>A	ENST00000360759.3	-	1	89	c.16C>T	c.(16-18)Caa>Taa	p.Q6*		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q6*(2)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACACAGCTTTGATTTTGTCTT	0.403000													36	121					0	0	0.834066	0	0
PTPRR	5801	broad.mit.edu	37	12	71139815	71139815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:71139815C>A	ENST00000283228.2	-	6	1242	c.790G>T	c.(790-792)Gag>Tag	p.E264*	PTPRR_ENST00000549308.1_Nonsense_Mutation_p.E19*|PTPRR_ENST00000440835.2_Nonsense_Mutation_p.E19*|PTPRR_ENST00000378778.1_Nonsense_Mutation_p.E58*|PTPRR_ENST00000342084.4_Nonsense_Mutation_p.E152*	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	264					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.E264*(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TGGTTTTTCTCTTTGTCTTGT	0.423000													35	106					3.09479e-21	4.05071e-21	0.827153	1	0
HAPLN3	145864	broad.mit.edu	37	15	89424754	89424754	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:89424754G>C	ENST00000359595.3	-	3	541	c.327C>G	c.(325-327)caC>caG	p.H109Q	HAPLN3_ENST00000562889.1_Missense_Mutation_p.H171Q	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	109	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.H109Q(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAAAGGAGCGGTGCCTCAGCC	0.657000													25	43					0	0	0.667858	0	0
CNGA2	1260	broad.mit.edu	37	X	150912021	150912021	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:150912021A>G	ENST00000329903.4	+	6	1079	c.1046A>G	c.(1045-1047)gAg>gGg	p.E349G		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	349					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.E349G(2)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGATGAGGAGTACCTATTT	0.502000													44	271					0	0	0.859065	0	0
MPP4	58538	broad.mit.edu	37	2	202549823	202549823	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:202549823C>A	ENST00000409474.3	-	7	745	c.538G>T	c.(538-540)Gcc>Tcc	p.A180S	MPP4_ENST00000396886.3_Missense_Mutation_p.A136S|MPP4_ENST00000428900.2_Missense_Mutation_p.A180S|MPP4_ENST00000315506.7_Missense_Mutation_p.A180S|MPP4_ENST00000409143.1_Missense_Mutation_p.A153S|MPP4_ENST00000447335.2_Missense_Mutation_p.A180S|MPP4_ENST00000359962.5_Missense_Mutation_p.A180S	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	180	PDZ.					cytoplasm	protein binding	p.A180S(2)		kidney(1)|lung(11)	12						ATGATCCTGGCCACCAAGATG	0.527000													22	56					1.26454e-06	1.39408e-06	0.693898	1	0
ADCY2	108	broad.mit.edu	37	5	7690926	7690926	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:7690926G>T	ENST00000338316.4	+	5	932	c.843G>T	c.(841-843)ctG>ctT	p.L281L	ADCY2_ENST00000513693.1_3'UTR|ADCY2_ENST00000537121.1_Silent_p.L101L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	281					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	p.L281L(2)		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						TCCACAACCTGTATGTGAAGC	0.557000													78	302					1.78623e-52	2.5022e-52	0.870114	1	0
FSHB	2488	broad.mit.edu	37	11	30255202	30255202	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:30255202C>A	ENST00000417547.1	+	3	284	c.245C>A	c.(244-246)cCc>cAc	p.P82H	FSHB_ENST00000254122.3_Missense_Mutation_p.P82H|FSHB_ENST00000533718.1_Missense_Mutation_p.P82H	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	82					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity	p.P82H(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GTGAGAGTGCCCGGCTGTGCT	0.502000													24	98					2.44723e-14	2.97352e-14	0.681144	1	0
C1orf106	55765	broad.mit.edu	37	1	200880721	200880721	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:200880721C>G	ENST00000367342.4	+	9	1555	c.1355C>G	c.(1354-1356)tCc>tGc	p.S452C	C1orf106_ENST00000413687.2_Missense_Mutation_p.S367C	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	452								p.S452C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCCTGCCACTCCTGCTCAGAA	0.667000													6	79					0	0	0.335167	0	0
CHPF2	54480	broad.mit.edu	37	7	150932245	150932245	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:150932245C>A	ENST00000035307.2	+	2	1888	c.375C>A	c.(373-375)gcC>gcA	p.A125A	CHPF2_ENST00000495645.1_Silent_p.A117A	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	125						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.A125A(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTACGGTGGCCCATCACTTCC	0.657000													21	43					1.22574e-08	1.39907e-08	0.624587	1	0
ATRNL1	26033	broad.mit.edu	37	10	117040877	117040877	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:117040877T>A	ENST00000355044.3	+	14	2239	c.2113T>A	c.(2113-2115)Tac>Aac	p.Y705N		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	705	PSI 2.					integral to membrane	sugar binding	p.Y705N(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGTCAAGAACTACACCAAATG	0.353000													11	46					0	0	0.411799	0	0
MYH15	22989	broad.mit.edu	37	3	108219032	108219032	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:108219032C>G	ENST00000273353.3	-	5	545	c.489G>C	c.(487-489)aaG>aaC	p.K163N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	163	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.K163N(1)		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						CTGATCGCCTCTTCCCTTTGT	0.463000													37	60					0	0	0.864702	0	0
MAGED1	9500	broad.mit.edu	37	X	51637834	51637834	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:51637834G>T	ENST00000375695.2	+	3	310	c.157G>T	c.(157-159)Gat>Tat	p.D53Y	MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000375722.1_Intron|MAGED1_ENST00000494718.1_Intron	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	0					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	p.D53Y(2)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TCAACTCCGCGATCCGCCTGC	0.632000										Multiple Myeloma(10;0.10)			23	29					1.80694e-10	2.105e-10	0.740014	1	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138713464	138713464	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:138713464C>G	ENST00000275766.1	-	3	755	c.744G>C	c.(742-744)aaG>aaC	p.K248N		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	248								p.K248N(2)		NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TTTCAAGCATCTTGTGCAGCT	0.403000													32	156					0	0	0.779181	0	0
ITGA2	3673	broad.mit.edu	37	5	52351515	52351515	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:52351515A>G	ENST00000296585.5	+	8	1070	c.927A>G	c.(925-927)atA>atG	p.I309M		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	309	VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	p.I309M(4)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GGTTTGGCATAGCAGTAAGTG	0.398000													26	139					0	0	0.750413	0	0
DGKE	8526	broad.mit.edu	37	17	54912287	54912287	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:54912287G>A	ENST00000284061.3	+	2	311	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	DGKE_ENST00000572810.1_Missense_Mutation_p.R44Q|C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	44					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	p.R44Q(1)		breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AGCCTCCAGCGGTCGCGCCGG	0.662000													4	59					0	0	0.184627	0	0
ADCY2	108	broad.mit.edu	37	5	7727285	7727285	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:7727285C>T	ENST00000338316.4	+	14	1871	c.1782C>T	c.(1780-1782)gcC>gcT	p.A594A	ADCY2_ENST00000537121.1_Silent_p.A414A|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	594					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	p.A594A(1)		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						AGTACCGGGCCACGGCACTGC	0.507000													40	279					0	0	0.847076	0	0
GJA10	84694	broad.mit.edu	37	6	90604983	90604983	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:90604983G>T	ENST00000369352.1	+	1	796	c.796G>T	c.(796-798)Gtg>Ttg	p.V266L		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	266					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.V266L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GAAATATTCTGTGGCCCAGCA	0.413000													14	108					6.72482e-11	7.88829e-11	0.479597	1	0
KCNMA1	3778	broad.mit.edu	37	10	78708951	78708951	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:78708951G>C	ENST00000286627.5	-	21	3436	c.2484C>G	c.(2482-2484)ctC>ctG	p.L828L	RP11-443A13.5_ENST00000426234.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Silent_p.L890L|KCNMA1_ENST00000404771.3_Silent_p.L886L|KCNMA1_ENST00000372440.1_Silent_p.L828L|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000372443.1_Silent_p.L828L|KCNMA1_ENST00000286628.8_Silent_p.L886L|KCNMA1_ENST00000354353.5_Silent_p.L889L|KCNMA1_ENST00000404857.1_Silent_p.L869L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	886					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	p.L890L(1)|p.L828L(1)		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)	ATTCCCGCTTGAGGTACTCAA	0.483000													15	386					0	0	0.479597	0	0
ZBBX	79740	broad.mit.edu	37	3	167078466	167078466	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:167078466G>T	ENST00000392766.2	-	7	659	c.319C>A	c.(319-321)Caa>Aaa	p.Q107K	ZBBX_ENST00000392764.1_Missense_Mutation_p.Q78K|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.Q107K|ZBBX_ENST00000392767.2_Missense_Mutation_p.Q107K|ZBBX_ENST00000307529.5_Missense_Mutation_p.Q107K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	107						intracellular	zinc ion binding	p.Q107K(4)		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						TATTTACCTTGAATCTGTTCC	0.269000													23	45					3.80469e-20	4.93228e-20	0.740014	1	0
DGKB	1607	broad.mit.edu	37	7	14661113	14661113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:14661113G>A	ENST00000403951.2	-	15	1596	c.1177C>T	c.(1177-1179)Caa>Taa	p.Q393*	DGKB_ENST00000407950.1_Nonsense_Mutation_p.Q385*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.Q393*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.Q393*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Nonsense_Mutation_p.Q392*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.Q393*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.Q374*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	393					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	p.Q393*(2)		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)	ACTGTTGATTGTCTTTCCTGT	0.294000													3	23					0	0	0.150653	0	0
LPAR4	2846	broad.mit.edu	37	X	78010954	78010954	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:78010954C>A	ENST00000435339.2	+	2	993	c.588C>A	c.(586-588)gtC>gtA	p.V196V	LPAR4_ENST00000373301.2_Silent_p.V196V	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	196						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.V196V(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCAAACGTGTCTGGAAGACTT	0.413000													23	31					1.13719e-10	1.32934e-10	0.729181	1	0
TNN	63923	broad.mit.edu	37	1	175063368	175063368	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:175063368G>A	ENST00000239462.4	+	7	1680	c.1567G>A	c.(1567-1569)Gct>Act	p.A523T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	523	Fibronectin type-III 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.A523T(2)		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)		GAGCAAGAAAGCTGACACCAA	0.532000													17	96					0	0	0.654019	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236626	26236626	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:26236626T>G	ENST00000354667.4	-	5	480	c.312A>C	c.(310-312)aaA>aaC	p.K104N	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.K92N	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	104	RRM 1.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	p.K104N(2)|p.K92N(2)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						GAGCCCCTGGTTTTCCAGATT	0.393000			T	ETV1	prostate								6	41					0	0	0.278610	0	0
MLIP	90523	broad.mit.edu	37	6	54025173	54025173	+	Missense_Mutation	SNP	T	T	A	rs142613357	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:54025173T>A	ENST00000514921.1	+	6	2378	c.2265T>A	c.(2263-2265)gaT>gaA	p.D755E	MLIP_ENST00000502396.1_Missense_Mutation_p.D766E|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000370877.2_Missense_Mutation_p.D155E|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000274897.5_Missense_Mutation_p.D231E|MLIP_ENST00000358276.5_Intron			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	231						nuclear envelope|PML body	protein binding	p.D231E(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AGGCACTAGATGAACCAGCCA	0.383000													17	42					0	0	0.575678	0	0
MYH6	4624	broad.mit.edu	37	14	23851669	23851669	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:23851669G>T	ENST00000405093.3	-	38	5834	c.5764C>A	c.(5764-5766)Ctt>Att	p.L1922I	MYH6_ENST00000356287.3_Missense_Mutation_p.L1922I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1922					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	p.L1922I(2)		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)		TTGGCTCGAAGCTTGTTGACC	0.592000													20	122					4.54149e-19	5.8762e-19	0.624587	1	0
ZIC4	84107	broad.mit.edu	37	3	147108910	147108910	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:147108910C>T	ENST00000383075.3	-	4	1324	c.812G>A	c.(811-813)tGc>tAc	p.C271Y	ZIC4_ENST00000425731.3_Missense_Mutation_p.C309Y|ZIC4_ENST00000484399.1_Missense_Mutation_p.C271Y|ZIC4_ENST00000473123.1_Missense_Mutation_p.C271Y|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000525172.2_Missense_Mutation_p.C321Y|ZIC4_ENST00000491672.1_Missense_Mutation_p.C65Y	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	271						nucleus	DNA binding|zinc ion binding	p.C271Y(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCACTTGTCGCAGCCCCGCAC	0.637000													36	58					0	0	0.827153	0	0
GLRA2	2742	broad.mit.edu	37	X	14627186	14627186	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:14627186C>T	ENST00000218075.4	+	7	1319	c.789C>T	c.(787-789)atC>atT	p.I263I	GLRA2_ENST00000355020.4_Silent_p.I263I|GLRA2_ENST00000443437.2_Silent_p.I174I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	263					neuropeptide signaling pathway	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	p.I263I(4)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AGATGTACATCCCAAGCCTGC	0.433000													25	80					0	0	0.693898	0	0
ZBTB20	26137	broad.mit.edu	37	3	114057870	114057870	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:114057870C>A	ENST00000462705.1	-	12	2810	c.1989G>T	c.(1987-1989)atG>atT	p.M663I	ZBTB20_ENST00000393785.2_Missense_Mutation_p.M663I|ZBTB20_ENST00000357258.3_Missense_Mutation_p.M663I|ZBTB20_ENST00000464560.1_Missense_Mutation_p.M663I|ZBTB20_ENST00000471418.1_Missense_Mutation_p.M663I|ZBTB20_ENST00000474710.1_Missense_Mutation_p.M736I|ZBTB20_ENST00000481632.1_Missense_Mutation_p.M663I	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M663I(2)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CAGACACATGCATCCTCATGT	0.453000													25	63					1.77063e-15	2.19067e-15	0.693898	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	37					0	0	0.184627	0	0
RYR2	6262	broad.mit.edu	37	1	237947674	237947674	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:237947674G>T	ENST00000366574.2	+	90	12979	c.12662G>T	c.(12661-12663)aGc>aTc	p.S4221I	RYR2_ENST00000360064.6_Missense_Mutation_p.S4227I|RYR2_ENST00000542537.1_Missense_Mutation_p.S4205I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4221					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	p.S4219I(1)		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)			AAGGAAGAAAGCGAGAAGGAG	0.542000													8	117					9.70103e-10	1.11859e-09	0.361761	1	0
RIMS2	9699	broad.mit.edu	37	8	104927789	104927789	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:104927789A>C	ENST00000507740.1	+	5	1539	c.1303A>C	c.(1303-1305)Agt>Cgt	p.S435R	RIMS2_ENST00000406091.3_Missense_Mutation_p.S627R|RIMS2_ENST00000262231.10_Missense_Mutation_p.S482R|RIMS2_ENST00000436393.2_Missense_Mutation_p.S405R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	705					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S435R(2)|p.S710R(1)|p.S405R(1)|p.S627R(1)		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)			AAAAAAAGGAAGTTTAGCTGA	0.323000										HNSCC(12;0.0054)			10	48					0	0	0.435327	0	0
GALNT15	117248	broad.mit.edu	37	3	16254145	16254145	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:16254145G>T	ENST00000339732.5	+	6	1770	c.1267G>T	c.(1267-1269)Gat>Tat	p.D423Y	GALNT15_ENST00000437509.1_Missense_Mutation_p.D423Y	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15									p.D423Y(2)									CCAAAATCAGGATTCCCATTC	0.537000													38	55					1.96642e-18	2.52506e-18	0.827153	1	0
STAB2	55576	broad.mit.edu	37	12	104098343	104098343	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:104098343G>A	ENST00000388887.2	+	36	4055	c.3851G>A	c.(3850-3852)tGt>tAt	p.C1284Y		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1284					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	p.C1284Y(2)		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						AAGGGAAGATGTAGGACATGC	0.373000													10	37					0	0	0.435327	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925273	4925273	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrY:4925273C>G	ENST00000333703.4	+	4	889	c.376C>G	c.(376-378)Cat>Gat	p.H126D	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.H137D|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.H137D	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	137	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H137D(4)|p.H126D(2)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAGGGATGAGCATTGCTTTTA	0.408000													82	33					0	0	0.870114	0	0
HSPA8	3312	broad.mit.edu	37	11	122930824	122930824	+	Splice_Site	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:122930824C>T	ENST00000534624.1	-	4	840	c.564_splice	c.e4+1	p.K188_splice	HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000453788.2_Splice_Site_p.K188_splice|HSPA8_ENST00000227378.3_Splice_Site_p.K188_splice|HSPA8_ENST00000526110.1_Splice_Site_p.K169_splice|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000532636.1_Splice_Site_p.K188_splice	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	188	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	p.K188K(2)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		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;0.0279)		TGGTACATACCTTTTTGTCTA	0.368000													13	106					0	0	0.500413	0	0
HRG	3273	broad.mit.edu	37	3	186395193	186395193	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:186395193C>T	ENST00000232003.4	+	7	1179	c.1099C>T	c.(1099-1101)Cat>Tat	p.H367Y		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	367	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	p.H367Y(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		acaccatccccatgcacacca	0.512000													16	32					0	0	0.520397	0	0
CFHR5	81494	broad.mit.edu	37	1	196971714	196971714	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:196971714G>T	ENST00000367414.5	+	8	1378	c.1322G>T	c.(1321-1323)tGt>tTt	p.C441F	CFHR5_ENST00000256785.4_Missense_Mutation_p.C417F	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	417	Sushi 7.				complement activation, alternative pathway	extracellular region		p.C417F(2)		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						GCTGTTCTCTGTAAAGAAAAC	0.388000													6	26					0.00198382	0.00205662	0.248553	1	0
ABCA8	10351	broad.mit.edu	37	17	66891114	66891114	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:66891114C>A	ENST00000269080.2	-	20	2822	c.2685G>T	c.(2683-2685)caG>caT	p.Q895H	ABCA8_ENST00000430352.2_Missense_Mutation_p.Q935H|ABCA8_ENST00000586539.1_Missense_Mutation_p.Q935H	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	895						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q895H(2)|p.Q895Q(1)		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)					AAGCTATGTTCTGGTGCTCCA	0.378000													19	102					1.2644e-06	1.39408e-06	0.592651	1	0
SPATA21	374955	broad.mit.edu	37	1	16727321	16727321	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:16727321C>T	ENST00000335496.1	-	11	1550	c.1068G>A	c.(1066-1068)cgG>cgA	p.R356R	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.R333R	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	356							calcium ion binding	p.R356R(2)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GCAACCGCAGCCGGCCTACGG	0.592000													37	116					0	0	0.870114	0	0
CNOT1	23019	broad.mit.edu	37	16	58580244	58580244	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:58580244G>C	ENST00000317147.5	-	29	4319	c.3987C>G	c.(3985-3987)ctC>ctG	p.L1329L	CNOT1_ENST00000245138.4_Silent_p.L180L|CNOT1_ENST00000569240.1_Silent_p.L1324L|CNOT1_ENST00000441024.2_Silent_p.L1329L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1329					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.L1329L(4)		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)		TGATGGGAGGGAGTTCTTCTG	0.413000													28	123					0	0	0.769981	0	0
POLD1	5424	broad.mit.edu	37	19	50905742	50905742	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:50905742A>G	ENST00000440232.2	+	7	843	c.790A>G	c.(790-792)Aac>Gac	p.N264D	POLD1_ENST00000595904.1_Missense_Mutation_p.N264D|POLD1_ENST00000599857.1_Missense_Mutation_p.N264D	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	264					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|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|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	p.N264D(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGTCGGCTGCAACTGGCTGGA	0.667000								DNA polymerases (catalytic subunits)					6	7					0	0	0.217242	0	0
FAM96A	84191	broad.mit.edu	37	15	64380925	64380925	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:64380925T>A	ENST00000557835.1	-	2	276	c.250A>T	c.(250-252)Acg>Tcg	p.T84S	FAM96A_ENST00000300030.3_Missense_Mutation_p.T84S|FAM96A_ENST00000559950.1_Missense_Mutation_p.T84S|FAM96A_ENST00000380290.3_Missense_Mutation_p.T84S			Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	84					chromosome segregation			p.T84S(2)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						ACTGTTGGCGTGAACCTGATA	0.348000													7	7					0	0	0.307466	0	0
TMEM176B	28959	broad.mit.edu	37	7	150488637	150488637	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:150488637G>A	ENST00000447204.2	-	7	1167	c.795C>T	c.(793-795)tcC>tcT	p.S265S	TMEM176B_ENST00000326442.5_Silent_p.S265S|TMEM176B_ENST00000450753.2_Silent_p.S228S|TMEM176B_ENST00000434545.1_Silent_p.S265S|TMEM176B_ENST00000492607.1_Silent_p.S265S|TMEM176B_ENST00000429904.2_Silent_p.S265S	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	265					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		p.S265S(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAATGGCAGTGGAGGTCTGCT	0.577000													7	144					0	0	0.278610	0	0
ABCA9	10350	broad.mit.edu	37	17	67031811	67031811	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:67031811C>T	ENST00000340001.4	-	7	1143	c.932G>A	c.(931-933)gGc>gAc	p.G311D	ABCA9_ENST00000370732.2_Missense_Mutation_p.G311D|ABCA9_ENST00000453985.2_Missense_Mutation_p.G311D	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	311					transport	integral to membrane	ATP binding|ATPase activity	p.G311D(2)		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)					CAAAGACAGGCCATAGAGGAG	0.383000													34	66					0	0	0.827153	0	0
FAM111B	374393	broad.mit.edu	37	11	58891882	58891882	+	Missense_Mutation	SNP	C	C	A	rs150852006		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:58891882C>A	ENST00000343597.3	+	4	503	c.312C>A	c.(310-312)agC>agA	p.S104R	FAM111B_ENST00000411426.1_Missense_Mutation_p.S74R|FAM111B_ENST00000529618.1_Missense_Mutation_p.S74R	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	104				S -> G (in Ref. 3; AAH62456).			catalytic activity	p.S104R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GTAAACCCAGCGAGAGTATCT	0.338000													64	105					5.44642e-36	7.53607e-36	0.870114	1	0
DDB1	1642	broad.mit.edu	37	11	61077340	61077340	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:61077340C>T	ENST00000301764.7	-	20	2891	c.2494G>A	c.(2494-2496)Ggc>Agc	p.G832S	DDB1_ENST00000450997.2_Missense_Mutation_p.G143S	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	832	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	p.G832S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATTGCTGTGCCCACAATGAAG	0.512000								Nucleotide excision repair (NER)					12	82					0	0	0.435327	0	0
ZNF658	26149	broad.mit.edu	37	9	40772612	40772612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:40772612C>A	ENST00000602553.1	-	5	2957	c.2663G>T	c.(2662-2664)gGg>gTg	p.G888V	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.G888V			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	888					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G888V(2)		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)		GAAAGTCTTCCCACAGTCATT	0.453000													36	56					9.39024e-22	1.23145e-21	0.847076	1	0
ZNF569	148266	broad.mit.edu	37	19	37903769	37903769	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:37903769C>A	ENST00000316950.6	-	6	2348	c.1791G>T	c.(1789-1791)atG>atT	p.M597I	ZNF569_ENST00000392149.2_Missense_Mutation_p.M597I|ZNF569_ENST00000392150.2_Missense_Mutation_p.M438I	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M597I(2)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGGCCTCTCATGTGCACAA	0.403000													62	68					7.82978e-24	1.03886e-23	0.870114	1	0
ZPBP2	124626	broad.mit.edu	37	17	38031516	38031516	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:38031516C>T	ENST00000377940.3	+	6	791	c.652C>T	c.(652-654)Cga>Tga	p.R218*	ZPBP2_ENST00000584588.1_Nonsense_Mutation_p.R167*|ZPBP2_ENST00000348931.4_Nonsense_Mutation_p.R240*	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	240					binding of sperm to zona pellucida	extracellular region		p.R240*(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGCAAGAGATCGAATAGAAGA	0.358000													6	93					0	0	0.248553	0	0
PCSK5	5125	broad.mit.edu	37	9	78969058	78969058	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:78969058A>G	ENST00000545128.1	+	36	5634	c.5096A>G	c.(5095-5097)gAc>gGc	p.D1699G		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	764					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.D1699G(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CACATGGACGACAGCCACTGC	0.592000													20	21					0	0	0.681144	0	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81442884	81442884	+	RNA	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:81442884A>T	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GGCCAGCCAGACTCCATCCCC	0.597000													10	13					0	0	0.387290	0	0
CSMD3	114788	broad.mit.edu	37	8	113275989	113275989	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:113275989T>A	ENST00000297405.5	-	61	9985	c.9741A>T	c.(9739-9741)acA>acT	p.T3247T	CSMD3_ENST00000343508.3_Silent_p.T3207T|CSMD3_ENST00000455883.2_Silent_p.T3078T|CSMD3_ENST00000352409.3_Silent_p.T3177T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3247	Sushi 25.					integral to membrane|plasma membrane		p.T3247T(1)|p.T3207T(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						AGTCGAAATTTGTTCCTTCCA	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	95					0	0	0.217242	0	0
HECW2	57520	broad.mit.edu	37	2	197298062	197298062	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:197298062T>A	ENST00000260983.2	-	2	268	c.86A>T	c.(85-87)cAg>cTg	p.Q29L		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	29					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.Q29L(2)		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						GGCAAGGCTCTGGAGGTTCTC	0.592000													40	105					0	0	0.840704	0	0
AGTR1	185	broad.mit.edu	37	3	148459426	148459426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:148459426C>A	ENST00000542281.1	+	4	1050	c.604C>A	c.(604-606)Ctg>Atg	p.L202M	AGTR1_ENST00000474935.1_Missense_Mutation_p.L202M|AGTR1_ENST00000349243.3_Missense_Mutation_p.L202M|AGTR1_ENST00000497524.1_Missense_Mutation_p.L202M|AGTR1_ENST00000402260.1_Missense_Mutation_p.L202M|AGTR1_ENST00000475347.1_Missense_Mutation_p.L202M|AGTR1_ENST00000404754.2_Missense_Mutation_p.L202M|AGTR1_ENST00000418473.2_Missense_Mutation_p.L202M|AGTR1_ENST00000461609.1_Missense_Mutation_p.L202M	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	202					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.L202M(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CAAAAATATACTGGGTTTCCT	0.373000													5	23					0.014758	0.0150239	0.184627	1	0
GABRA3	2556	broad.mit.edu	37	X	151533027	151533027	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:151533027T>A	ENST00000370314.4	-	2	254	c.16A>T	c.(16-18)Aca>Tca	p.T6S	GABRA3_ENST00000535043.1_Missense_Mutation_p.T6S|GABRA3_ENST00000370311.1_Missense_Mutation_p.T6S	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	6					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	p.T6S(2)		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)	CAGTGACTTGTTTGTGTGATT	0.433000													46	227					0	0	0.870114	0	0
HERC4	26091	broad.mit.edu	37	10	69716678	69716678	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:69716678G>T	ENST00000395198.3	-	18	2253	c.2006C>A	c.(2005-2007)gCa>gAa	p.A669E	HERC4_ENST00000373700.4_Missense_Mutation_p.A661E|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Missense_Mutation_p.A559E|HERC4_ENST00000412272.2_Missense_Mutation_p.A669E	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	669					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	p.A669E(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AGTAGTTTTTGCTTGGGCATC	0.318000													9	97					4.68919e-08	5.30763e-08	0.361761	1	0
SPEG	10290	broad.mit.edu	37	2	220333307	220333307	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:220333307G>A	ENST00000312358.7	+	11	3282	c.3150G>A	c.(3148-3150)ctG>ctA	p.L1050L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1050	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.L1050L(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAGATGAGCTGACCTGCAGTG	0.642000													82	21					0	0	0.870114	0	0
PCDH9	5101	broad.mit.edu	37	13	67799482	67799482	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:67799482G>C	ENST00000377861.3	-	2	3777	c.3091C>G	c.(3091-3093)Cag>Gag	p.Q1031E	PCDH9_ENST00000544246.1_Intron|PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000456367.1_Intron|PCDH9_ENST00000377865.2_Intron			Q9HC56	PCDH9_HUMAN	protocadherin 9	0					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)		CGTTAATACTGGTTGACTGGG	0.428000													22	14					0	0	0.639603	0	0
RHBDD1	84236	broad.mit.edu	37	2	227731981	227731981	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:227731981G>A	ENST00000392062.2	+	5	1037	c.513G>A	c.(511-513)ccG>ccA	p.P171P	RHBDD1_ENST00000341329.3_Silent_p.P171P	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	171						integral to membrane	serine-type endopeptidase activity	p.P171P(3)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTCCTGTACCGAACAGATTTG	0.398000													101	286					0	0	0.870114	0	0
NSF	4905	broad.mit.edu	37	17	44782158	44782158	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:44782158G>A	ENST00000398238.4	+	13	1515	c.1408G>A	c.(1408-1410)Gca>Aca	p.A470T	NSF_ENST00000575068.1_Missense_Mutation_p.A465T|NSF_ENST00000225282.8_Missense_Mutation_p.A376T	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	470					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	p.A470T(2)		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)		CATGGAGAAAGCAGAAAGCCT	0.378000													17	112					0	0	0.557998	0	0
C2CD3	26005	broad.mit.edu	37	11	73825446	73825446	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:73825446C>T	ENST00000334126.7	-	10	1939	c.1713G>A	c.(1711-1713)gtG>gtA	p.V571V	C2CD3_ENST00000313663.7_Silent_p.V571V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	571						centrosome		p.V571V(4)		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)					TTGCTGTAGTCACCTTAGGTG	0.408000													16	39					0	0	0.500413	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090281	238090281	+	RNA	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:238090281G>T	ENST00000450451.1	+	0	1787					NR_027247.2																						GGGCCAGAAGGACTCCTACGT	0.602000													44	48					2.37825e-27	3.18667e-27	0.853193	1	0
TEP1	7011	broad.mit.edu	37	14	20859894	20859894	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:20859894C>G	ENST00000262715.5	-	13	2001	c.1961G>C	c.(1960-1962)aGg>aCg	p.R654T	TEP1_ENST00000556935.1_Missense_Mutation_p.R546T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	654	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.R654T(2)		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)		CTGTCGGTACCTGTTCAGCAT	0.542000													60	264					0	0	0.870114	0	0
SSTR4	6754	broad.mit.edu	37	20	23016252	23016252	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:23016252G>T	ENST00000255008.3	+	1	196	c.132G>T	c.(130-132)gcG>gcT	p.A44A	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	44					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.A44A(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					acgcgcgggcggcgggcATGG	0.711000													9	15					2.74318e-10	3.19018e-10	0.335167	1	0
CDC25A	993	broad.mit.edu	37	3	48207217	48207217	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:48207217G>C	ENST00000302506.3	-	12	1508	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	CDC25A_ENST00000459900.1_5'UTR|CDC25A_ENST00000351231.3_Missense_Mutation_p.S327C	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	367					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	p.S367C(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ATTCAAAACAGATGCCATCTG	0.423000													23	113					0	0	0.639603	0	0
HIST1H2AJ	8331	broad.mit.edu	37	6	27782453	27782453	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:27782453G>T	ENST00000333151.3	-	1	154	c.66C>A	c.(64-66)gcC>gcA	p.A22A		NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	22					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A22A(3)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						ACTGAAGCCCGGCCCGAGAAG	0.622000													10	25					0.0167234	0.0169992	0.435327	1	0
PZP	5858	broad.mit.edu	37	12	9344799	9344799	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:9344799C>A	ENST00000261336.2	-	13	1564	c.1536G>T	c.(1534-1536)gaG>gaT	p.E512D	PZP_ENST00000381997.2_Missense_Mutation_p.E381D	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.E512D(2)|p.E381D(2)		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						TGTCTCCTGACTCCACAGGCA	0.463000													99	157					1.3211e-41	1.83546e-41	0.870114	1	0
C4orf21	55345	broad.mit.edu	37	4	113461166	113461166	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:113461166C>T	ENST00000505019.1	-	27	6150	c.6025G>A	c.(6025-6027)Gta>Ata	p.V2009I	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0								p.V2009I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTGTCCTTACACAGGACAGA	0.403000													7	24					0	0	0.307466	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396791	38396791	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:38396791G>T	ENST00000377698.3	+	2	1199	c.1046G>T	c.(1045-1047)gGg>gTg	p.G349V		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	349					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.G349V(2)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	AGGAAAGTGGGGAACCCCTTT	0.572000													39	16					6.19805e-25	8.2722e-25	0.812448	1	0
HIP1	3092	broad.mit.edu	37	7	75171247	75171247	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:75171247C>A	ENST00000336926.6	-	29	2969	c.2943G>T	c.(2941-2943)atG>atT	p.M981I	HIP1_ENST00000434438.2_Missense_Mutation_p.M930I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	981	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.M983I(2)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCTGAGAATCCATCTCTTGGC	0.453000			T	PDGFRB	CMML								22	67					2.39556e-15	2.95846e-15	0.639603	1	0
PTCHD2	57540	broad.mit.edu	37	1	11596438	11596438	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:11596438G>T	ENST00000294484.6	+	21	4012	c.3874G>T	c.(3874-3876)Gcc>Tcc	p.A1292S	PTCHD2_ENST00000304391.6_Missense_Mutation_p.G178V|PTCHD2_ENST00000389575.3_Missense_Mutation_p.A1292S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1292					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.A1509S(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTGGGCGTGGCCATCGTCTC	0.657000													17	32					2.5808e-16	3.23434e-16	0.539581	1	0
OR5A2	219981	broad.mit.edu	37	11	59190132	59190132	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:59190132C>G	ENST00000302040.4	-	1	317	c.295G>C	c.(295-297)Gcc>Ccc	p.A99P		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A99P(2)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TACTGAGTGGCACAGCCAACA	0.512000													76	107					0	0	0.870114	0	0
KHDC3L	154288	broad.mit.edu	37	6	74072525	74072525	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:74072525G>A	ENST00000370367.3	+	1	126	c.73G>A	c.(73-75)Ggt>Agt	p.G25S		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member									p.G25S(2)|p.G25R(1)									GGAGGTGCTCGGTCACCTCCC	0.577000													4	45					0	0	0.184627	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294756	110294756	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:110294756T>C	ENST00000369805.3	-	15	1527	c.1298A>G	c.(1297-1299)cAt>cGt	p.H433R	EPS8L3_ENST00000361852.4_Intron|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.H432R	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	432						cytoplasm	protein binding	p.H433R(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTGAGGGTCATGGTTGTGTGT	0.562000													54	171					0	0	0.870114	0	0
DRC1	92749	broad.mit.edu	37	2	26676417	26676417	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:26676417G>T	ENST00000288710.2	+	14	1993	c.1919_splice	c.e14+1	p.R640_splice		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)									p.R640M(2)									AAGAAGCCTAGGTGGGCTGCG	0.612000													6	34					0.00307968	0.00317812	0.278610	1	0
INPP4A	3631	broad.mit.edu	37	2	99193584	99193584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:99193584C>T	ENST00000074304.5	+	25	3172	c.2779C>T	c.(2779-2781)Cag>Tag	p.Q927*	INPP4A_ENST00000409016.3_Nonsense_Mutation_p.Q888*|INPP4A_ENST00000409463.1_Nonsense_Mutation_p.Q256*|INPP4A_ENST00000523221.1_Nonsense_Mutation_p.Q927*|INPP4A_ENST00000409540.3_Nonsense_Mutation_p.Q888*|INPP4A_ENST00000409851.3_Nonsense_Mutation_p.Q922*|INPP4A_ENST00000545415.1_Nonsense_Mutation_p.Q888*	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	927					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.Q888*(2)|p.Q927*(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGTCTTCACCCAGGCCCTGGA	0.662000													27	55					0	0	0.693898	0	0
STIM1	6786	broad.mit.edu	37	11	4095897	4095897	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:4095897G>A	ENST00000300737.4	+	7	1526	c.957G>A	c.(955-957)gaG>gaA	p.E319E	STIM1_ENST00000533977.1_Silent_p.E146E|STIM1_ENST00000527651.1_Silent_p.E319E	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	319	Glu-rich.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		ATGCTGAGGAGGAGTTGGAGC	0.567000													2	3					0	0	0.150653	0	0
CSMD1	64478	broad.mit.edu	37	8	2855548	2855548	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:2855548G>T	ENST00000520002.1	-	55	8920	c.8365C>A	c.(8365-8367)Ctg>Atg	p.L2789M	CSMD1_ENST00000602723.1_Missense_Mutation_p.L2731M|CSMD1_ENST00000400186.3_Missense_Mutation_p.L2731M|CSMD1_ENST00000602557.1_Missense_Mutation_p.L2789M|CSMD1_ENST00000542608.1_Missense_Mutation_p.L2730M|CSMD1_ENST00000537824.1_Missense_Mutation_p.L2788M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2789	Sushi 19.					integral to membrane		p.L2788M(2)|p.L2517M(2)		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)		CACGTGGGCAGAGGGCTACTC	0.557000													37	94					1.69901e-12	2.03881e-12	0.812448	1	0
RFTN2	130132	broad.mit.edu	37	2	198482528	198482528	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:198482528A>G	ENST00000295049.3	-	6	1582	c.1046T>C	c.(1045-1047)aTt>aCt	p.I349T		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	349						plasma membrane		p.I349T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GCTCACCTCAATAACAGTCCA	0.313000													18	59					0	0	0.624587	0	0
ACCS	84680	broad.mit.edu	37	11	44097136	44097136	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:44097136G>C	ENST00000263776.8	+	6	984	c.550G>C	c.(550-552)Gcc>Ccc	p.A184P	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	184							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.A184P(2)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GCTGTGTGAGGCCGGGGGTAA	0.577000													11	145					0	0	0.387290	0	0
OR2G2	81470	broad.mit.edu	37	1	247751695	247751695	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:247751695C>G	ENST00000320065.1	+	1	34	c.34C>G	c.(34-36)Cta>Gta	p.L12V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L12V(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			TGAGAGCAACCTAGCAGGTTT	0.393000													124	201					0	0	0.870114	0	0
C10orf120	399814	broad.mit.edu	37	10	124457832	124457832	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:124457832A>T	ENST00000329446.4	-	3	456	c.425T>A	c.(424-426)aTa>aAa	p.I142K		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	142								p.I142K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TGCTGTCCATATTTTTTCTAG	0.458000													5	102					0	0	0.184627	0	0
CPSF1	29894	broad.mit.edu	37	8	145623236	145623236	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:145623236A>G	ENST00000349769.3	-	20	2100	c.2006T>C	c.(2005-2007)cTg>cCg	p.L669P		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	669					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	mRNA 3'-UTR binding|protein binding	p.L669P(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACTCTTCAGCAGGAACATGGT	0.677000													5	45					0	0	0.217242	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349570	30349570	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:30349570A>G	ENST00000327564.7	+	1	1547	c.1486A>G	c.(1486-1488)Aag>Gag	p.K496E	LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000584368.1_Missense_Mutation_p.K481E|LRRC37B_ENST00000341671.7_Missense_Mutation_p.K469E|LRRC37B_ENST00000543378.2_Missense_Mutation_p.K387E|LRRC37B_ENST00000394713.3_Missense_Mutation_p.K469E			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	469						integral to membrane		p.K469E(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGCCCTGGAGAAGACTAGAGC	0.527000													26	65					0	0	0.812448	0	0
DACH2	117154	broad.mit.edu	37	X	85403695	85403695	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:85403695G>T	ENST00000373131.1	+	1	234	c.71G>T	c.(70-72)cGg>cTg	p.R24L	DACH2_ENST00000373125.4_Missense_Mutation_p.R24L	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.R24L(4)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGCTTATTCCGGGCCGAACCC	0.582000													4	0					2.56e-06	2.79498e-06	0.150653	1	0
MACF1	23499	broad.mit.edu	37	1	39788376	39788376	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:39788376A>G	ENST00000564288.1	+	32	4903	c.4126A>G	c.(4126-4128)Atc>Gtc	p.I1376V	MACF1_ENST00000317713.7_Missense_Mutation_p.I1381V|MACF1_ENST00000372915.3_Missense_Mutation_p.I1381V|MACF1_ENST00000539005.1_Missense_Mutation_p.I1381V|MACF1_ENST00000567887.1_Missense_Mutation_p.I1413V|MACF1_ENST00000545844.1_Missense_Mutation_p.I1381V|MACF1_ENST00000361689.2_Missense_Mutation_p.I1381V|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1381					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	p.I1381V(3)		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)			TTCAGATGCCATCACTCAAGA	0.488000													43	86					0	0	0.870114	0	0
DLX3	1747	broad.mit.edu	37	17	48072147	48072147	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:48072147A>T	ENST00000434704.2	-	1	441	c.216T>A	c.(214-216)aaT>aaA	p.N72K		NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	72						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N72K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTGCAAGCCCATTGAGATTGA	0.612000													9	31					0	0	0.307466	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014042	75014042	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:75014042A>T	ENST00000379727.3	-	3	1040	c.842T>A	c.(841-843)aTc>aAc	p.I281N	CYP1A1_ENST00000567032.1_Missense_Mutation_p.I281N|CYP1A1_ENST00000395048.2_Missense_Mutation_p.I281N|CYP1A1_ENST00000395049.4_Missense_Mutation_p.I281N|CYP1A1_ENST00000564596.1_Missense_Mutation_p.I20N			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	281					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.I281N(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GCTGTCTGTGATGTCCCGGAT	0.512000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				32	87					0	0	0.796494	0	0
PIGL	9487	broad.mit.edu	37	17	16221158	16221158	+	Missense_Mutation	SNP	T	T	C	rs137909844		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:16221158T>C	ENST00000225609.5	+	6	613	c.596T>C	c.(595-597)tTg>tCg	p.L199S	PIGL_ENST00000395844.3_Silent_p.L188L|PIGL_ENST00000581006.1_Intron	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	199					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GATCTGCCCTTGTCTCTGCTT	0.522000													5	104					0	0	0.248553	0	0
CXCL9	4283	broad.mit.edu	37	4	76927399	76927399	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:76927399A>T	ENST00000264888.5	-	2	131	c.93T>A	c.(91-93)tgT>tgA	p.C31*		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	31					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	p.C31*(2)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGATGCAGGAACAGCGACCCT	0.428000													131	234					0	0	0.870114	0	0
CD300C	10871	broad.mit.edu	37	17	72540857	72540857	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:72540857C>T	ENST00000330793.1	-	2	651	c.291G>A	c.(289-291)ctG>ctA	p.L97L		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	97	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.L97L(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TGAGATTCTCCAGGGTCACTG	0.552000													44	114					0	0	0.847076	0	0
ATF6B	1388	broad.mit.edu	37	6	32087669	32087669	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:32087669G>A	ENST00000375201.4	-	9	934	c.889C>T	c.(889-891)Cca>Tca	p.P297S	ATF6B_ENST00000375203.3_Missense_Mutation_p.P300S			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	300					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P300S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCAGGCCGTGGTAGAGAGGGA	0.607000													41	112					0	0	0.859065	0	0
PEX11A	8800	broad.mit.edu	37	15	90226986	90226986	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:90226986C>G	ENST00000300056.3	-	3	515	c.366G>C	c.(364-366)agG>agC	p.R122S	PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.R91S|PEX11A_ENST00000559170.1_3'UTR	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	122					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		p.R122S(2)		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)			GGTGAGCAGCCCTCGTTCGCC	0.493000													22	136					0	0	0.654019	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512673	68512673	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:68512673C>A	ENST00000370981.1	-	4	944	c.308G>T	c.(307-309)cGc>cTc	p.R103L	GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.R103L			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	103					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.R103L(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATAACGTGGCGCTGCAGAGC	0.577000													99	328					1.64933e-60	2.32484e-60	0.870114	1	0
CWF19L2	143884	broad.mit.edu	37	11	107207336	107207336	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:107207336T>G	ENST00000282251.5	-	15	2333	c.2306A>C	c.(2305-2307)gAa>gCa	p.E769A		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	769							catalytic activity	p.E615A(2)|p.E769A(2)		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)		AGGAATACATTCATAAACCAT	0.333000													34	58					0	0	0.827153	0	0
P2RY10	27334	broad.mit.edu	37	X	78216847	78216847	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:78216847G>C	ENST00000171757.2	+	4	1110	c.830G>C	c.(829-831)tGt>tCt	p.C277S	P2RY10_ENST00000544091.1_Missense_Mutation_p.C277S	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	277						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.C277S(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						ATTAGCAGTTGTCCCGTTGTC	0.413000													141	167					0	0	0.870114	0	0
DENND2A	27147	broad.mit.edu	37	7	140301227	140301227	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:140301227C>G	ENST00000275884.6	-	2	1388	c.971G>C	c.(970-972)aGa>aCa	p.R324T	DENND2A_ENST00000496613.1_Missense_Mutation_p.R324T|DENND2A_ENST00000492720.1_Missense_Mutation_p.R324T|DENND2A_ENST00000537639.1_Missense_Mutation_p.R324T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	324								p.R324T(2)		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)					GGATTTCTGTCTCCCGGTCCA	0.572000													10	98					0	0	0.361761	0	0
GPR101	83550	broad.mit.edu	37	X	136112543	136112543	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:136112543C>T	ENST00000298110.1	-	1	1290	c.1291G>A	c.(1291-1293)Gta>Ata	p.V431I		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	431						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V431I(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CACTGGGGTACCTGGGTTTCG	0.493000													14	63					0	0	0.435327	0	0
LINGO2	158038	broad.mit.edu	37	9	27949535	27949535	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:27949535G>T	ENST00000379992.2	-	6	1584	c.1135C>A	c.(1135-1137)Caa>Aaa	p.Q379K	LINGO2_ENST00000308675.3_Missense_Mutation_p.Q379K	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	379	LRRCT.					integral to membrane		p.Q379K(4)		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)		CACATAGGTTGCTGGCCACCA	0.517000													18	12					7.07596e-05	7.55512e-05	0.539581	1	0
ATG7	10533	broad.mit.edu	37	3	11382132	11382132	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:11382132A>G	ENST00000354449.3	+	10	928	c.903A>G	c.(901-903)gcA>gcG	p.A301A	ATG7_ENST00000446450.2_Silent_p.A262A|ATG7_ENST00000354956.5_Silent_p.A301A	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	301					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	p.A301A(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GTCCTAAAGCAGTTGGATGGG	0.393000													32	152					0	0	0.796494	0	0
ARMC3	219681	broad.mit.edu	37	10	23270366	23270366	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:23270366A>T	ENST00000298032.5	+	9	1098	c.1014A>T	c.(1012-1014)caA>caT	p.Q338H	ARMC3_ENST00000376528.4_Missense_Mutation_p.Q75H|ARMC3_ENST00000409983.3_Missense_Mutation_p.Q338H|ARMC3_ENST00000409049.3_Missense_Mutation_p.Q338H	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	338							binding	p.Q338H(1)		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						CTGCTTCCCAAGCTATTTCAG	0.363000													5	47					0	0	0.248553	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386491	41386491	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:41386491C>A	ENST00000301146.4	-	3	927	c.386G>T	c.(385-387)cGc>cTc	p.R129L	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.R78L	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	129						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R129L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GATGGCAAAGCGCAGGAGCTG	0.697000													9	54					0.00010058	0.000107054	0.411799	1	0
SLC5A8	160728	broad.mit.edu	37	12	101560478	101560478	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:101560478C>A	ENST00000536262.2	-	12	1879		c.e12-1			NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8						apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.?(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAAGTGCTCCCTGTAAAACAA	0.358000													5	23					0.00116845	0.00121691	0.217242	1	0
NCKAP5	344148	broad.mit.edu	37	2	133489461	133489461	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:133489461C>A	ENST00000409261.1	-	17	5665	c.5292G>T	c.(5290-5292)atG>atT	p.M1764I	NCKAP5_ENST00000409213.1_Missense_Mutation_p.M445I|NCKAP5_ENST00000405974.3_Missense_Mutation_p.M445I|NCKAP5_ENST00000317721.6_Missense_Mutation_p.M1764I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1764							protein binding	p.M1764I(2)|p.M284I(2)		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						TTTGGGCTCTCATGGAAGAAA	0.582000													28	220					1.39806e-14	1.70482e-14	0.729181	1	0
FRMPD2	143162	broad.mit.edu	37	10	49371699	49371699	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:49371699C>T	ENST00000374201.3	-	28	3855	c.3553G>A	c.(3553-3555)Gct>Act	p.A1185T	FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000474573.1_Missense_Mutation_p.A137T|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A1153T|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A1160T	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1185					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.A1185T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTTTGTCAGCTGAGAGTTCA	0.458000													13	268					0	0	0.575678	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923368	159923368	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:159923368G>T	ENST00000368093.3	-	2	238	c.122C>A	c.(121-123)cCc>cAc	p.P41H	SLAMF9_ENST00000368092.3_Missense_Mutation_p.P41H	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	41						integral to membrane		p.P41H(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TATTTCCAGGGGGAGGCTGAT	0.527000													41	118					1.61004e-24	2.14461e-24	0.870114	1	0
PHACTR3	116154	broad.mit.edu	37	20	58318161	58318161	+	Splice_Site	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:58318161G>A	ENST00000371015.1	+	2	585		c.e2-1		PHACTR3_ENST00000355648.4_Splice_Site|PHACTR3_ENST00000395636.2_Splice_Site|PHACTR3_ENST00000395639.4_Splice_Site|PHACTR3_ENST00000541461.1_Splice_Site|PHACTR3_ENST00000361300.4_Splice_Site|PHACTR3_ENST00000359926.3_Splice_Site	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3							nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.?(2)		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)			TCGTCTTCCAGATGAGATGGA	0.587000													34	53					0	0	0.859065	0	0
MFSD8	256471	broad.mit.edu	37	4	128842683	128842683	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:128842683G>A	ENST00000296468.3	-	12	1473	c.1346C>T	c.(1345-1347)cCt>cTt	p.P449L	MFSD8_ENST00000513559.1_Missense_Mutation_p.P404L|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	449					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.P449L(2)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GCTTACCTGAGGTTTTGGTCC	0.378000													11	17					0	0	0.457914	0	0
DISP1	84976	broad.mit.edu	37	1	223178410	223178410	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:223178410C>G	ENST00000284476.6	+	8	3835	c.3671C>G	c.(3670-3672)gCa>gGa	p.A1224G		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1224					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.A1224G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AACAGCCAAGCAAAGAATTTA	0.473000													20	64					0	0	0.608945	0	0
MADD	8567	broad.mit.edu	37	11	47314115	47314115	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:47314115A>C	ENST00000311027.5	+	21	3548	c.3383A>C	c.(3382-3384)gAa>gCa	p.E1128A	MADD_ENST00000407859.3_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000405573.2_5'UTR|MADD_ENST00000402799.1_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000395336.3_Missense_Mutation_p.E1128A|MADD_ENST00000395344.3_Intron	NM_003682.3	NP_003673.3	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1128					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	p.E1128A(2)		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)		AAGCACCAGGAAGTGAAAAAG	0.493000													19	41					0	0	0.654019	0	0
NEGR1	257194	broad.mit.edu	37	1	72163734	72163734	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:72163734A>T	ENST00000357731.4	-	4	863	c.624T>A	c.(622-624)gaT>gaA	p.D208E	NEGR1_ENST00000306821.3_Missense_Mutation_p.D80E|NEGR1_ENST00000434200.1_Intron|NEGR1_ENST00000467479.1_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	208	Ig-like C2-type 2.			D -> A (in Ref. 2).	cell adhesion	anchored to membrane|plasma membrane		p.D208E(2)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGAATGACACATCATTTTCCG	0.353000													14	78					0	0	0.500413	0	0
HSPA9	3313	broad.mit.edu	37	5	137909529	137909529	+	Missense_Mutation	SNP	T	T	C	rs138260125		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:137909529T>C	ENST00000297185.3	-	3	276	c.151A>G	c.(151-153)Atc>Gtc	p.I51V		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	51					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	p.I51V(2)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTCCCTTGATTGCTTCTGAT	0.373000													8	30					0	0	0.307466	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107035616	107035616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:107035616G>A	ENST00000369063.3	-	7	1393	c.928C>T	c.(928-930)Cga>Tga	p.R310*	RTN4IP1_ENST00000539449.1_Intron	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	310						mitochondrion	oxidoreductase activity|zinc ion binding	p.R310*(2)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		ATGCCCAATCGGTCCATGTTC	0.502000													36	65					0	0	0.819951	0	0
TRPM2	7226	broad.mit.edu	37	21	45860723	45860723	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr21:45860723G>A	ENST00000397928.1	+	31	4766	c.4321G>A	c.(4321-4323)Gag>Aag	p.E1441K	TRPM2_ENST00000300482.5_Missense_Mutation_p.E1441K|TRPM2_ENST00000397932.2_Missense_Mutation_p.E1491K|TRPM2_ENST00000300481.9_Missense_Mutation_p.E1387K|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1441	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.E1441K(1)		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						TGCCTGGATCGAGACGGTGGC	0.622000													6	83					0	0	0.335167	0	0
TENM1	10178	broad.mit.edu	37	X	123631060	123631060	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:123631060G>C	ENST00000422452.2	-	20	3564	c.3501C>G	c.(3499-3501)gtC>gtG	p.V1167V	TENM1_ENST00000371130.3_Silent_p.V1167V	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.V1169V(2)									TGGTTGATATGACTGGGGGCT	0.423000													46	25					0	0	0.870114	0	0
UNC13C	440279	broad.mit.edu	37	15	54307661	54307661	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:54307661C>A	ENST00000545554.1	+	1	2561	c.2561C>A	c.(2560-2562)aCg>aAg	p.T854K	UNC13C_ENST00000537900.1_Missense_Mutation_p.T854K|UNC13C_ENST00000260323.11_Missense_Mutation_p.T854K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	854					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.T854K(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GATGTCTACACGGAGCCCTAT	0.423000													22	78					1.50039e-11	1.77843e-11	0.608945	1	0
SIM1	6492	broad.mit.edu	37	6	100838954	100838954	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:100838954C>A	ENST00000369208.3	-	12	2366	c.1584G>T	c.(1582-1584)tgG>tgT	p.W528C	SIM1_ENST00000262901.4_Missense_Mutation_p.W528C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	528	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.W528C(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TATCTTCATCCCAATGACCTC	0.403000													20	63					6.36457e-07	7.06249e-07	0.667858	1	0
CXCR6	10663	broad.mit.edu	37	3	45988293	45988293	+	Missense_Mutation	SNP	G	G	A	rs151224196	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:45988293G>A	ENST00000458629.1	+	1	1783	c.320G>A	c.(319-321)gGc>gAc	p.G107D	CXCR6_ENST00000304552.4_Missense_Mutation_p.G107D|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000457814.1_Missense_Mutation_p.G107D|CXCR6_ENST00000438735.1_Missense_Mutation_p.G107D|FYCO1_ENST00000438446.1_Intron|FYCO1_ENST00000535325.1_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	107					viral genome replication	integral to plasma membrane	coreceptor activity	p.G107D(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGCCTACTGGGCATCTACACT	0.527000													16	394					0	0	0.539581	0	0
THOC2	57187	broad.mit.edu	37	X	122769970	122769970	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:122769970G>C	ENST00000245838.8	-	19	2009	c.1978C>G	c.(1978-1980)Ctt>Gtt	p.L660V	THOC2_ENST00000491737.1_Missense_Mutation_p.L545V|THOC2_ENST00000355725.4_Missense_Mutation_p.L660V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	660					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.L660V(1)|p.L581V(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TACTGAAGAAGACCAGCAAGA	0.333000													5	74					0	0	0.278610	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593003	96593003	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:96593003T>C	ENST00000456556.1	-	28	1982	c.1898A>G	c.(1897-1899)aAt>aGt	p.N633S						ankyrin repeat domain 36C									p.N633S(2)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TGTGGCTATATTTGAAACAGA	0.328000													38	78					0	0	0.870114	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607513	84607513	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:84607513C>T	ENST00000344803.2	+	4	2175	c.2128C>T	c.(2128-2130)Ctg>Ttg	p.L710L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.L710L(4)									CCATGAGTCTCTGTCATTGCT	0.483000													42	57					0	0	0.864702	0	0
CSMD3	114788	broad.mit.edu	37	8	113275890	113275890	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:113275890A>T	ENST00000297405.5	-	61	10084	c.9840T>A	c.(9838-9840)agT>agA	p.S3280R	CSMD3_ENST00000343508.3_Missense_Mutation_p.S3240R|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3111R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3210R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3280	Sushi 25.					integral to membrane|plasma membrane		p.S3240R(2)|p.S3280R(2)		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						GTACTTCACCACTCCAGGTAC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	23					0	0	0.479597	0	0
GH1	2688	broad.mit.edu	37	17	61995377	61995377	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:61995377G>T	ENST00000323322.5	-	3	333	c.291_splice	c.e3+1	p.S97_splice	GH1_ENST00000351388.4_Intron|GH1_ENST00000458650.2_Splice_Site_p.S82_splice|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	97			S -> F (in IGHD1B; reduced ability to activate the JAK/STAT pathway).		glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	p.S97S(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						ATCCACTCACGGATTTCTGTT	0.572000													38	46					1.22674e-20	1.59641e-20	0.840704	1	0
C20orf194	25943	broad.mit.edu	37	20	3340199	3340199	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:3340199C>T	ENST00000252032.9	-	7	721	c.654G>A	c.(652-654)aaG>aaA	p.K218K		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	218								p.K218K(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TAGGATCCATCTTGCTGTAGA	0.373000													11	158					0	0	0.500413	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970637	45970637	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr21:45970637G>C	ENST00000391621.1	-	1	751	c.705C>G	c.(703-705)tgC>tgG	p.C235W	TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	235						keratin filament		p.C235W(2)		large_intestine(1)|lung(4)|skin(1)	6						ACACGGGGCGGCAGAGGAGGG	0.672000													35	43					0	0	0.819951	0	0
ZEB1	6935	broad.mit.edu	37	10	31810791	31810791	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:31810791A>G	ENST00000446923.2	+	7	2871	c.2480A>G	c.(2479-2481)tAc>tGc	p.Y827C	ZEB1_ENST00000361642.5_Missense_Mutation_p.Y844C|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.Y776C|ZEB1_ENST00000320985.10_Missense_Mutation_p.Y843C|ZEB1_ENST00000560721.2_Missense_Mutation_p.Y823C	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	843					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	p.Y843C(2)		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)				CAGGTGGCATACACCTACTCA	0.483000													76	71					0	0	0.870114	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110504206	110504206	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:110504206T>A	ENST00000378402.5	+	62	10323	c.10219T>A	c.(10219-10221)Tgg>Agg	p.W3407R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3407					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.W3409R(2)		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)			TTCAACTCTCTGGCATGCAGC	0.338000										HNSCC(38;0.096)			3	9					0	0	0.115264	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677973	25677973	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:25677973G>T	ENST00000382051.3	+	13	1725	c.1675G>T	c.(1675-1677)Ggg>Tgg	p.G559W	SLC34A2_ENST00000503434.1_Missense_Mutation_p.G558W|SLC34A2_ENST00000504570.1_Missense_Mutation_p.G558W	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	559					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.G559W(2)	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)				GGTTGGTGTCGGGGTTCCCGT	0.597000			T	ROS1	NSCLC								32	117					9.17885e-22	1.20606e-21	0.779181	1	0
WFDC11	259239	broad.mit.edu	37	20	44278014	44278014	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:44278014C>T	ENST00000356562.2	-	4	346	c.125G>A	c.(124-126)tGc>tAc	p.C42Y	WFDC11_ENST00000324384.3_Missense_Mutation_p.C42Y			Q8NEX6	WFD11_HUMAN	WAP four-disulfide core domain 11	42						extracellular region		p.C42Y(2)		endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				CTTTCCCCAGCATTCTTCAAG	0.393000													103	316					0	0	0.870114	0	0
ME2	4200	broad.mit.edu	37	18	48447064	48447064	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:48447064C>T	ENST00000321341.5	+	9	1150	c.878C>T	c.(877-879)gCa>gTa	p.A293V	ME2_ENST00000382927.3_Missense_Mutation_p.A293V	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	293					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	p.A293V(2)		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)	GGTCTTCTTGCAGCACAAAAA	0.348000													18	66					0	0	0.639603	0	0
CNTRL	11064	broad.mit.edu	37	9	123920102	123920102	+	Silent	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:123920102A>C	ENST00000373855.1	+	29	4841	c.4581A>C	c.(4579-4581)gcA>gcC	p.A1527A	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Silent_p.A975A|CNTRL_ENST00000238341.5_Silent_p.A1527A|CNTRL_ENST00000373847.1_Silent_p.A975A			Q7Z7A1	CNTRL_HUMAN	centriolin	1527					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.A1527A(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAATTGTAGCAGCAAAAGACT	0.408000													32	49					0	0	0.750413	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779094	97779094	+	Splice_Site	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:97779094T>C	ENST00000344386.3	+	7	821	c.657_splice	c.e7+1	p.N219_splice	ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_Splice_Site_p.N219_splice|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	219								p.N219N(4)		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)		ATGATAGAAATGTAAGTATAT	0.358000													9	103					0	0	0.387290	0	0
TTLL2	83887	broad.mit.edu	37	6	167754837	167754837	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:167754837A>T	ENST00000239587.5	+	3	1537	c.1449A>T	c.(1447-1449)gcA>gcT	p.A483A		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	483					protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.A483A(2)		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)		CTGAAGCTGCACCTGCCTCCC	0.517000													36	180					0	0	0.804634	0	0
KIAA1033	23325	broad.mit.edu	37	12	105538144	105538144	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:105538144G>T	ENST00000332180.5	+	21	2177	c.2090G>T	c.(2089-2091)cGa>cTa	p.R697L		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	697					endosome transport	WASH complex		p.R697L(2)|p.R697Q(1)		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						CTGGATGACCGAAACCCTTTC	0.373000													12	55					1.3612e-06	1.49578e-06	0.479597	1	0
CXCR2P1	3580	broad.mit.edu	37	2	218925700	218925700	+	RNA	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:218925700A>T	ENST00000439871.1	-	0	680					NR_002712.1																						TGGCATGGACAATGGCCAGGT	0.537000													26	25					0	0	0.681144	0	0
TEX15	56154	broad.mit.edu	37	8	30703478	30703478	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:30703478G>C	ENST00000256246.2	-	1	3130	c.3056C>G	c.(3055-3057)aCt>aGt	p.T1019S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1019								p.T1019S(2)		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)		TCCTACTTTAGTTATAAGCTG	0.338000													31	173					0	0	0.779181	0	0
HIST1H2AH	85235	broad.mit.edu	37	6	27115128	27115128	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:27115128A>T	ENST00000377459.1	+	1	268	c.221A>T	c.(220-222)aAc>aTc	p.N74I		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	74					nucleosome assembly	nucleosome|nucleus	DNA binding	p.N74I(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GCCCGCGACAACAAGAAGACC	0.647000													44	182					0	0	0.870114	0	0
DKK2	27123	broad.mit.edu	37	4	107845748	107845748	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:107845748T>A	ENST00000285311.3	-	3	1188	c.483A>T	c.(481-483)ggA>ggT	p.G161G	DKK2_ENST00000513208.1_Silent_p.G61G|DKK2_ENST00000510463.1_Silent_p.G115G	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	161					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.G161G(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GATTCTGCCATCCCAAGTCAT	0.418000													65	169					0	0	0.870114	0	0
NF1	4763	broad.mit.edu	37	17	29657349	29657349	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:29657349G>A	ENST00000358273.4	+	39	6028	c.5645G>A	c.(5644-5646)tGt>tAt	p.C1882Y	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.C1861Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1882					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.C1882Y(4)|p.?(3)|p.C1882F(1)	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)		GCCTTAACTTGTACCTTTAAT	0.353000			"""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)			26	34					0	0	0.760397	0	0
AQP9	366	broad.mit.edu	37	15	58458996	58458996	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:58458996C>T	ENST00000219919.4	+	2	606	c.236C>T	c.(235-237)tCt>tTt	p.S79F	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.S14F|AQP9_ENST00000536493.1_Missense_Mutation_p.S79F	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	79					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.S79F(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GGCGGTGTCTCTGGTAAGCAG	0.448000													26	316					0	0	0.681144	0	0
FOXR1	283150	broad.mit.edu	37	11	118851198	118851198	+	Splice_Site	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:118851198A>G	ENST00000317011.3	+	5	836		c.e5-1			NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1						embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific 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	p.?(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCCTGTCCATAGAAAGCACTT	0.537000													46	61					0	0	0.870114	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292832	102292832	+	RNA	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:102292832G>C	ENST00000561463.1	+	0	878																											GAAGACACTCGTGGAGGCGTC	0.597000													2	5					0	0	0.150653	0	0
MYH11	4629	broad.mit.edu	37	16	15917231	15917231	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:15917231T>C	ENST00000338282.6	-	3	489	c.383A>G	c.(382-384)tAt>tGt	p.Y128C	MYH11_ENST00000452625.2_Missense_Mutation_p.Y128C|MYH11_ENST00000396324.3_Missense_Mutation_p.Y128C|MYH11_ENST00000300036.5_Missense_Mutation_p.Y128C|MYH11_ENST00000576790.1_Missense_Mutation_p.Y128C	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	128	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	p.Y128C(4)		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						CAGGTGTTTATAGGGGTTGAC	0.557000			T	CBFB	AML								65	192					0	0	0.870114	0	0
PRMT10	90826	broad.mit.edu	37	4	148559746	148559746	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:148559746T>C	ENST00000322396.6	-	12	2717	c.2475A>G	c.(2473-2475)ggA>ggG	p.G825G	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Silent_p.G712G	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	825						cytoplasm	binding|protein methyltransferase activity	p.G825G(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CAAGTTCCTCTCCCATTTCAA	0.408000													81	357					0	0	0.870114	0	0
LGALS2	3957	broad.mit.edu	37	22	37966600	37966600	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:37966600G>T	ENST00000215886.4	-	3	406	c.232C>A	c.(232-234)Cca>Aca	p.P78T		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	78	Galectin.							p.P78T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					TCTGACCCTGGGCTGAAGCAC	0.582000													28	94					2.48696e-23	3.28686e-23	0.779181	1	0
ASAH2	56624	broad.mit.edu	37	10	52005145	52005145	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:52005145C>A	ENST00000395526.3	-	2	196	c.197G>T	c.(196-198)cGc>cTc	p.R66L	ASAH2_ENST00000447815.1_Missense_Mutation_p.R66L|ASAH2_ENST00000329428.6_Missense_Mutation_p.R47L	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	66					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	p.R47L(2)|p.R66L(2)		large_intestine(1)|lung(9)|urinary_tract(1)	11						GGCTGTGGAGCGTTGGGCAGC	0.507000													8	33					5.18039e-06	5.62869e-06	0.278610	1	0
ATG2B	55102	broad.mit.edu	37	14	96777950	96777950	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:96777950C>A	ENST00000359933.4	-	27	4812	c.3919G>T	c.(3919-3921)Gtt>Ttt	p.V1307F		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1307								p.V1307F(2)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATCACACGAACATAATCTAAA	0.313000													8	22					0.000978159	0.00102187	0.387290	1	0
MAGEC3	139081	broad.mit.edu	37	X	140984475	140984475	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:140984475G>T	ENST00000544766.1	+	5	564	c.37G>T	c.(37-39)Gag>Tag	p.E13*	MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000409007.1_Nonsense_Mutation_p.E13*|MAGEC3_ENST00000536088.1_Nonsense_Mutation_p.E13*|MAGEC3_ENST00000483584.1_3'UTR	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0								p.E13*(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAGCTTTGAGGAAGACTT	0.542000													165	173					4.26038e-92	6.13278e-92	0.870114	1	0
IL21R	50615	broad.mit.edu	37	16	27456538	27456538	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:27456538C>G	ENST00000337929.3	+	7	1199	c.726C>G	c.(724-726)ctC>ctG	p.L242L	IL21R_ENST00000564089.1_Silent_p.L242L|IL21R_ENST00000395755.1_Silent_p.L242L|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395754.4_Silent_p.L242L	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	242					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.L242L(2)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TGCTTCTCCTCCTGCTTGTCA	0.542000			T	BCL6	NHL								11	21					0	0	0.479597	0	0
OR7A17	26333	broad.mit.edu	37	19	14991871	14991871	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:14991871G>C	ENST00000327462.2	-	1	393	c.297C>G	c.(295-297)acC>acG	p.T99T		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T99T(3)		breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AGCACATCTGGGTGATGCAGC	0.468000													108	132					0	0	0.870114	0	0
SLC35F4	341880	broad.mit.edu	37	14	58031051	58031051	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:58031051G>T	ENST00000556826.1	-	8	1496	c.1260C>A	c.(1258-1260)cgC>cgA	p.R420R	SLC35F4_ENST00000339762.6_Silent_p.R456R|SLC35F4_ENST00000554729.1_Silent_p.R297R	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4									p.R456R(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGCAGCCAGGCGGACAACAT	0.448000													23	76					7.33532e-06	7.95735e-06	0.667858	1	0
OBSCN	84033	broad.mit.edu	37	1	228509331	228509331	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:228509331G>T	ENST00000570156.2	+	66	17734	c.17660G>T	c.(17659-17661)cGc>cTc	p.R5887L	OBSCN_ENST00000422127.1_Missense_Mutation_p.R4930L|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2049L|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4930L|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2564L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4930					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	p.R4930L(2)|p.R5512L(2)|p.R5642L(2)		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)				GTGCGAGCCCGCTGGCTGAAG	0.642000													13	20					2.27111e-07	2.52843e-07	0.411799	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254960	30254960	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:30254960T>G	ENST00000361644.2	+	5	1656	c.919T>G	c.(919-921)Tat>Gat	p.Y307D	MAGEB3_ENST00000378986.1_Missense_Mutation_p.Y307D	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	307	MAGE.							p.Y307V(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CCAGTTCTGGTATGAAGAGGC	0.517000													11	21					0	0	0.387290	0	0
THEMIS	387357	broad.mit.edu	37	6	128134623	128134623	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:128134623T>A	ENST00000368250.1	-	5	1424	c.926A>T	c.(925-927)cAg>cTg	p.Q309L	THEMIS_ENST00000537166.1_Missense_Mutation_p.Q353L|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q388L|THEMIS_ENST00000368248.2_Missense_Mutation_p.Q388L			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	388	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.Q388L(2)		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						CACCAGAAACTGGTCCCCAAC	0.468000													78	78					0	0	0.870114	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736176	140736176	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:140736176C>T	ENST00000571252.1	+	1	1409	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGCCTCCATCTTATCT	0.507000													23	84					0	0	0.624587	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564340	176564340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:176564340G>T	ENST00000367662.3	+	3	2764	c.1600G>T	c.(1600-1602)Gat>Tat	p.D534Y	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D534Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	534	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.D534Y(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAACATCTGTGATGATGAGGG	0.527000													65	103					6.1719e-39	8.55736e-39	0.870114	1	0
CLSTN2	64084	broad.mit.edu	37	3	140277665	140277665	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:140277665C>T	ENST00000458420.3	+	12	2197	c.2007C>T	c.(2005-2007)gcC>gcT	p.A669A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	669					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.A669A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCACCTTCGCCAAAACCGAAG	0.532000										HNSCC(16;0.037)			13	35					0	0	0.457914	0	0
TCF12	6938	broad.mit.edu	37	15	57525012	57525012	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:57525012G>A	ENST00000267811.5	+	11	1232	c.928G>A	c.(928-930)Gcc>Acc	p.A310T	TCF12_ENST00000343827.3_Missense_Mutation_p.A140T|TCF12_ENST00000543579.1_Missense_Mutation_p.A140T|TCF12_ENST00000452095.2_Missense_Mutation_p.A306T|TCF12_ENST00000438423.2_Missense_Mutation_p.A310T|TCF12_ENST00000537840.1_Missense_Mutation_p.A74T|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000333725.5_Missense_Mutation_p.A310T|TCF12_ENST00000557843.1_Missense_Mutation_p.A310T	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	310					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.A310T(4)|p.A306T(2)|p.A140T(2)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTACGTTGCTGCCTCACACAC	0.473000			T	TEC	extraskeletal myxoid chondrosarcoma								75	77					0	0	0.870114	0	0
DSPP	1834	broad.mit.edu	37	4	88534203	88534203	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:88534203G>T	ENST00000399271.1	+	4	985	c.865G>T	c.(865-867)Gat>Tat	p.D289Y	DSPP_ENST00000282478.7_Missense_Mutation_p.D289Y|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	289					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.D289Y(2)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TGGGAAAGAAGATGATCATGA	0.428000													29	81					5.8336e-16	7.27056e-16	0.779181	1	0
RYR3	6263	broad.mit.edu	37	15	33955875	33955875	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:33955875G>A	ENST00000389232.4	+	36	5626	c.5556G>A	c.(5554-5556)ctG>ctA	p.L1852L	RYR3_ENST00000415757.3_Silent_p.L1852L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1852	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L1852L(2)		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)		TGCAGGCCCTGAACATGTCTG	0.567000													11	21					0	0	0.387290	0	0
PXDNL	137902	broad.mit.edu	37	8	52359614	52359614	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:52359614C>T	ENST00000356297.4	-	12	1575	c.1475G>A	c.(1474-1476)aGt>aAt	p.S492N	PXDNL_ENST00000543296.1_Missense_Mutation_p.S492N	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	492	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.S492N(2)		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)				CCCCAACGAACTGACTGCTTG	0.468000													80	373					0	0	0.870114	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104251168	104251168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:104251168G>A	ENST00000202556.9	-	3	523	c.241C>T	c.(241-243)Cga>Tga	p.R81*		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	81					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	p.R81*(2)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCCTCGTGTCGAAGGAAAAAT	0.393000													11	42					0	0	0.435327	0	0
STK32C	282974	broad.mit.edu	37	10	134059451	134059451	+	Missense_Mutation	SNP	C	C	A	rs142282211		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:134059451C>A	ENST00000368625.4	-	2	395	c.310G>T	c.(310-312)Gac>Tac	p.D104Y	STK32C_ENST00000368622.1_5'UTR			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	91	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.D104Y(2)|p.D91Y(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TGGAAGTGGTCGAAGTTCACT	0.637000													6	19					2.0095e-06	2.20103e-06	0.248553	1	0
DEFB112	245915	broad.mit.edu	37	6	50011359	50011359	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:50011359C>T	ENST00000322246.4	-	2	270	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	91					defense response to bacterium	extracellular region		p.D91N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TTATTTGGGTCCGTAGGGTCA	0.413000													18	91					0	0	0.592651	0	0
SLC4A7	9497	broad.mit.edu	37	3	27490147	27490147	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:27490147G>C	ENST00000295736.5	-	3	327	c.257C>G	c.(256-258)tCt>tGt	p.S86C	SLC4A7_ENST00000454389.1_Missense_Mutation_p.S95C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S95C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S95C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S91C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S91C|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S91C|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S86C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S91C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S95C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	86						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.S86C(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CTTACCATAAGAAGGAGATTC	0.353000													13	54					0	0	0.520397	0	0
OR4C3	256144	broad.mit.edu	37	11	48346726	48346726	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:48346726C>T	ENST00000319856.4	+	1	255	c.234C>T	c.(232-234)ccC>ccT	p.P78P		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P78P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCTCCAGCCCCACGCTGGCTT	0.453000													13	166					0	0	0.411799	0	0
RABGAP1	23637	broad.mit.edu	37	9	125782613	125782613	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:125782613A>T	ENST00000373647.4	+	13	1803	c.1669A>T	c.(1669-1671)Aag>Tag	p.K557*		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	557					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	p.K485*(2)|p.K557*(2)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGTGAGACCGAAGCAGTTGTC	0.403000													59	53					0	0	0.870114	0	0
CAPN11	11131	broad.mit.edu	37	6	44140984	44140984	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:44140984G>A	ENST00000398776.1	+	7	730	c.692G>A	c.(691-693)gGg>gAg	p.G231E	CAPN11_ENST00000542245.1_Missense_Mutation_p.G231E	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	231	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.G231E(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	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)			GCATTGTCAGGGGGCAGTACC	0.607000											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	108	212					0	0	0.870114	0	0
LDLRAD4	753	broad.mit.edu	37	18	13645351	13645351	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:13645351A>T	ENST00000361205.4	+	7	1284	c.616A>T	c.(616-618)Agg>Tgg	p.R206W	LDLRAD4_ENST00000592991.1_Missense_Mutation_p.R108W|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R129W|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R169W|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R188W|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R151W|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.R206W	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4									p.R169W(2)|p.R206W(2)									AGAGTCCGTGAGGGCCCCACC	0.587000													11	44					0	0	0.479597	0	0
PIGT	51604	broad.mit.edu	37	20	44047576	44047576	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:44047576A>T	ENST00000535404.1	+	3	464	c.86A>T	c.(85-87)cAg>cTg	p.Q29L	PIGT_ENST00000543458.2_Intron|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000372689.5_Silent_p.T150T|PIGT_ENST00000279035.9_Intron|PIGT_ENST00000279036.6_Silent_p.T150T|PIGT_ENST00000341555.5_Intron			Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	0					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	p.T150T(4)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCACCAACACAGTCACTCCCA	0.512000													100	147					0	0	0.870114	0	0
ARSB	411	broad.mit.edu	37	5	78135202	78135202	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:78135202G>A	ENST00000264914.4	-	6	1726	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	ARSB_ENST00000565165.1_Missense_Mutation_p.P397L|ARSB_ENST00000396151.3_Missense_Mutation_p.P397L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	397					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	p.P397L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CACGAAGTTCGGGTCAATATT	0.428000													32	110					0	0	0.840704	0	0
MICAL1	64780	broad.mit.edu	37	6	109765934	109765934	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:109765934G>T	ENST00000368952.4	-	24	3396	c.3106C>A	c.(3106-3108)Cgg>Agg	p.R1036R	MICAL1_ENST00000358807.3_Silent_p.R1017R|MICAL1_ENST00000358577.3_Silent_p.R931R			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1017					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	p.R1017R(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTACCTTCCCGGTTCATGTAG	0.522000													6	17					7.48243e-07	8.27583e-07	0.335167	1	0
CSMD2	114784	broad.mit.edu	37	1	34554714	34554714	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:34554714C>A	ENST00000373381.4	-	2	444	c.268G>T	c.(268-270)Gcc>Tcc	p.A90S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	50	CUB 1.					integral to membrane|plasma membrane	protein binding	p.A50S(2)		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)				GTGCAGTTGGCGTAATTGGGG	0.552000													39	100					5.20006e-24	6.91302e-24	0.859065	1	0
ABCF1	23	broad.mit.edu	37	6	30539290	30539290	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:30539290C>T	ENST00000326195.8	+	1	138	c.26C>T	c.(25-27)cCg>cTg	p.P9L	ABCF1_ENST00000396515.4_Missense_Mutation_p.P9L|ABCF1_ENST00000376545.3_Missense_Mutation_p.P9L	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	9					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AAGCAGCAGCCGCCGGAGCCC	0.667000													2	7					0	0	0.115264	0	0
BASP1	10409	broad.mit.edu	37	5	17275998	17275998	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:17275998G>A	ENST00000322611.3	+	2	933	c.673G>A	c.(673-675)Gtg>Atg	p.V225M		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	225					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	p.V225M(2)		endometrium(1)|lung(8)	9						AACCGTAACCGTGAAAGAGTG	0.537000													12	30					0	0	0.479597	0	0
NRXN3	9369	broad.mit.edu	37	14	79434538	79434538	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:79434538G>T	ENST00000554719.1	+	11	2363	c.1872G>T	c.(1870-1872)ctG>ctT	p.L624L	NRXN3_ENST00000335750.5_Silent_p.L624L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	228					angiogenesis|cell adhesion	integral to membrane		p.L624L(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGCTGGTCTGGCCCAAGGCA	0.488000													46	55					2.27459e-33	3.1155e-33	0.870114	1	0
HEG1	57493	broad.mit.edu	37	3	124739860	124739860	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:124739860A>T	ENST00000311127.4	-	4	1095	c.1028T>A	c.(1027-1029)cTg>cAg	p.L343Q		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	343						extracellular region|integral to membrane	calcium ion binding	p.L343Q(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CAAAGATCGCAGCGTTCTCGG	0.532000													30	169					0	0	0.779181	0	0
MRPL17	63875	broad.mit.edu	37	11	6704014	6704014	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:6704014G>C	ENST00000288937.6	-	2	311	c.207C>G	c.(205-207)aaC>aaG	p.N69K		NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	69					translation	ribosome	protein domain specific binding|structural constituent of ribosome	p.N69K(2)		lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGCTCGTTCGTTAGTGTCTC	0.512000													15	103					0	0	0.654019	0	0
UBTF	7343	broad.mit.edu	37	17	42286812	42286812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:42286812G>A	ENST00000302904.4	-	17	2305	c.1813C>T	c.(1813-1815)Cag>Tag	p.Q605*	UBTF_ENST00000533177.1_Nonsense_Mutation_p.Q568*|UBTF_ENST00000529383.1_Nonsense_Mutation_p.Q605*|UBTF_ENST00000343638.5_Nonsense_Mutation_p.Q568*|UBTF_ENST00000527034.1_Nonsense_Mutation_p.Q568*|UBTF_ENST00000526094.1_Nonsense_Mutation_p.Q568*|UBTF_ENST00000436088.1_Nonsense_Mutation_p.Q605*|UBTF_ENST00000393606.3_Nonsense_Mutation_p.Q568*|CTB-175E5.7_ENST00000586560.1_RNA			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	605					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	p.Q605*(2)		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)		GAGATGCGCTGCCAGCGACTG	0.587000													18	47					0	0	0.608945	0	0
AJUBA	84962	broad.mit.edu	37	14	23445718	23445718	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:23445718A>T	ENST00000262713.2	-	4	1561	c.1186T>A	c.(1186-1188)Ttt>Att	p.F396I	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_5'UTR|AJUBA_ENST00000361265.4_Missense_Mutation_p.F396I	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	396	LIM zinc-binding 1.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	p.F396I(2)									GCCTCCTGAAACCCTGAAAAC	0.468000													141	116					0	0	0.870114	0	0
CANT1	124583	broad.mit.edu	37	17	76993153	76993153	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:76993153C>T	ENST00000302345.2	-	2	1046	c.552G>A	c.(550-552)acG>acA	p.T184T	CANT1_ENST00000591773.1_Silent_p.T184T|CANT1_ENST00000392446.5_Silent_p.T184T	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	184					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	p.T184T(1)	CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGACGACCCCCGTCCGGTCAT	0.587000			T	ETV4	prostate								15	97					0	0	0.500413	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098634	78098634	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:78098634G>A	ENST00000370801.3	-	5	881	c.406C>T	c.(406-408)Cct>Tct	p.P136S	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P136S(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GATTTTATAGGAGAATCTTCT	0.383000													59	167					0	0	0.870114	0	0
TIMD4	91937	broad.mit.edu	37	5	156381703	156381703	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:156381703C>G	ENST00000274532.2	-	2	179	c.123G>C	c.(121-123)ctG>ctC	p.L41L	TIMD4_ENST00000407087.3_Silent_p.L41L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	41	Ig-like V-type.					integral to membrane		p.L41L(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGATGAGTACAGACAGGGCA	0.527000													17	43					0	0	0.539581	0	0
CYFIP1	23191	broad.mit.edu	37	15	23000107	23000107	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:23000107G>C	ENST00000313077.7	+	30	3586	c.3461G>C	c.(3460-3462)gGt>gCt	p.G1154A	CYFIP1_ENST00000435939.2_Missense_Mutation_p.G723A|CYFIP1_ENST00000560848.1_Missense_Mutation_p.G1154A	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	1154					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	p.G1154A(2)|p.G723A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CAGTGCTTTGGTGATGGGCTA	0.483000													31	98					0	0	0.750413	0	0
CDC5L	988	broad.mit.edu	37	6	44371547	44371547	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:44371547C>A	ENST00000371477.3	+	6	840	c.539_splice	c.e6-1	p.R181_splice		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	181					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	p.R181S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTTTTCAGACGTCTTGCTGC	0.353000													16	40					4.96729e-08	5.6037e-08	0.575678	1	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928496	32928496	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:32928496A>G	ENST00000361627.3	+	12	2244	c.1522A>G	c.(1522-1524)Act>Gct	p.T508A	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.T319A|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.T319A	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	508					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.T508A(2)		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)		AACCTTACTAACTCCAGAGCG	0.358000													8	42					0	0	0.387290	0	0
LIN28A	79727	broad.mit.edu	37	1	26738039	26738039	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:26738039C>T	ENST00000326279.6	+	2	308	c.194C>T	c.(193-195)gCg>gTg	p.A65V	LIN28A_ENST00000254231.4_Missense_Mutation_p.A65V	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	65	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding	p.A65V(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GCCGGGGTCGCGCTCGACCCC	0.647000													19	44					0	0	0.639603	0	0
NRD1	4898	broad.mit.edu	37	1	52301803	52301803	+	Splice_Site	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:52301803T>C	ENST00000354831.7	-	5	1105	c.916_splice	c.e5+1	p.M306_splice	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Splice_Site_p.M106_splice|NRD1_ENST00000352171.7_Splice_Site_p.M238_splice|NRD1_ENST00000539524.1_Splice_Site_p.M174_splice	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	237					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	p.M306V(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AAATTCTTACTGTGCTCCAAA	0.423000													21	46					0	0	0.069288	0	0
EPHB1	2047	broad.mit.edu	37	3	134873067	134873067	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:134873067G>A	ENST00000398015.3	+	6	1741	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	EPHB1_ENST00000493838.1_Silent_p.P18P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	457	Fibronectin type-III 2.					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						GGCCACAGCCGGAGCAGCCCA	0.557000													4	220					0	0	0.009096	0	0
WFS1	7466	broad.mit.edu	37	4	6303099	6303099	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:6303099G>T	ENST00000226760.1	+	8	1747	c.1577G>T	c.(1576-1578)gGc>gTc	p.G526V	WFS1_ENST00000503569.1_Missense_Mutation_p.G526V	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	526					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	p.G526F(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AATTTCAAGGGCACCTACTGC	0.607000													25	155					1.10923e-09	1.27699e-09	0.076483	1	0
EDN2	1907	broad.mit.edu	37	1	41948217	41948217	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:41948217C>T	ENST00000372587.4	-	3	333	c.264G>A	c.(262-264)cgG>cgA	p.R88R	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	88					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity	p.R88R(2)		endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGAGCGGCGCCGGCGTCTTG	0.662000													13	22					0	0	0.028581	0	0
MTF1	4520	broad.mit.edu	37	1	38280877	38280877	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:38280877A>T	ENST00000373036.4	-	11	2333	c.2193T>A	c.(2191-2193)aaT>aaA	p.N731K		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	731						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGGGAATCAGATTGGACGGGG	0.547000													6	158					0	0	0.021553	0	0
SPTLC1	10558	broad.mit.edu	37	9	94794786	94794786	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:94794786C>G	ENST00000262554.2	-	15	1388	c.1383G>C	c.(1381-1383)gcG>gcC	p.A461A		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	461						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.A461A(2)		breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGATGGTGGACGCAGCTCTCT	0.567000													11	111					0	0	0.069234	0	0
WIPF3	644150	broad.mit.edu	37	7	29928925	29928925	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:29928925A>T	ENST00000409290.1	+	6	1253	c.1253A>T	c.(1252-1254)gAc>gTc	p.D418V	WIPF3_ENST00000242140.5_Missense_Mutation_p.D418V|WIPF3_ENST00000409123.1_Missense_Mutation_p.D418V	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	418								p.D418V(2)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						TGTGCAGATGACTTCGAGTCT	0.443000													11	42					0	0	0.010729	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26431814	26431814	+	RNA	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:26431814C>A	ENST00000466808.2	+	0	1762																		p.P578T(2)									ACTAGTTGTTCCACAGCTCCC	0.483000													86	172					3.27475e-32	4.51564e-32	0.048971	1	0
CYP3A4	1576	broad.mit.edu	37	7	99358457	99358457	+	Silent	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:99358457A>C	ENST00000354593.2	-	7	1054	c.951T>G	c.(949-951)ccT>ccG	p.P317P	CYP3A4_ENST00000336411.2_Silent_p.P467P			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	467					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	p.P467P(1)		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)	TTTCTTTACAAGGTTTGAAGG	0.338000													69	95					0	0	0.048971	0	0
AFTPH	54812	broad.mit.edu	37	2	64808353	64808353	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:64808353G>C	ENST00000422803.1	+	8	2799	c.2485G>C	c.(2485-2487)Gat>Cat	p.D829H	AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000409933.1_Missense_Mutation_p.D829H|AFTPH_ENST00000238855.7_Missense_Mutation_p.D829H|AFTPH_ENST00000238856.4_Intron|AFTPH_ENST00000409183.1_Missense_Mutation_p.D460H			Q6ULP2	AFTIN_HUMAN	aftiphilin	829	Clathrin-binding (Potential).				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	p.D829H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TCTGAACCTTGATTTCTTTGG	0.478000													3	30					0	0	0.004672	0	0
PIK3R5	23533	broad.mit.edu	37	17	8784284	8784284	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:8784284G>A	ENST00000447110.1	-	18	2557	c.2433C>T	c.(2431-2433)aaC>aaT	p.N811N	PIK3R5_ENST00000581552.1_Silent_p.N811N|PIK3R5_ENST00000584803.1_Silent_p.N810N	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	811					platelet activation	cytosol|membrane|nucleus		p.N811N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGGGGCAGCTGTTGGAGCCGA	0.562000													37	83					0	0	0.042209	0	0
HK1	3098	broad.mit.edu	37	10	71075716	71075716	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:71075716C>T	ENST00000298649.3	+	1	107	c.6C>T	c.(4-6)gaC>gaT	p.D2D	HK1_ENST00000360289.2_Intron|HK1_ENST00000448642.2_Intron|HK1_ENST00000404387.2_Intron	NM_033496.2	NP_277031.1	P19367	HXK1_HUMAN	hexokinase 1	0	Hydrophobic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.D2D(2)		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						TCCAGATGGACTGTGAGCACA	0.562000													30	176					0	0	0.054565	0	0
COL2A1	1280	broad.mit.edu	37	12	48376677	48376677	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:48376677T>C	ENST00000380518.3	-	33	2311	c.2147A>G	c.(2146-2148)cAg>cGg	p.Q716R	COL2A1_ENST00000337299.6_Missense_Mutation_p.Q647R|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	716	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.Q716R(2)|p.Q647R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACGGGGACCCTGGAGGCCCTG	0.627000													67	97					0	0	0.048971	0	0
PTPRD	5789	broad.mit.edu	37	9	8486043	8486043	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:8486043A>T	ENST00000381196.4	-	25	3317	c.2774T>A	c.(2773-2775)cTt>cAt	p.L925H	PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.L925H|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.L903H|PTPRD_ENST00000360074.4_Missense_Mutation_p.L912H|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.L925H|PTPRD_ENST00000355233.5_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	925	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L925H(2)		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)		TTCTGAGTGAAGGTTTTGAGG	0.478000										TSP Lung(15;0.13)			23	68					0	0	0.076483	0	0
PRELP	5549	broad.mit.edu	37	1	203452913	203452913	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:203452913G>T	ENST00000343110.2	+	2	728	c.601G>T	c.(601-603)Gat>Tat	p.D201Y		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	201	Poly-Leu.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.D201Y(3)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTGCTCCTGGATCTCCAGCA	0.607000													31	313					1.30897e-18	1.68071e-18	0.041601	1	0
MYH7	4625	broad.mit.edu	37	14	23884664	23884664	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:23884664G>C	ENST00000355349.3	-	36	5371	c.5209C>G	c.(5209-5211)Ctc>Gtc	p.L1737V	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1737					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1737V(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCAGTCTGGAGCTGGGACAGG	0.562000													5	168					0	0	0.014758	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249107312	249107312	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:249107312C>A	ENST00000366472.5	-	6	1816	c.587G>T	c.(586-588)cGa>cTa	p.R196L	SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R164L|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	196								p.R196L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCGAGTCACTCGCTGGTGCTC	0.637000													5	6					2.47511e-08	2.78496e-08	0.037714	1	0
OR51E1	143503	broad.mit.edu	37	11	4674113	4674113	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:4674113G>T	ENST00000396952.5	+	2	1007	c.357G>T	c.(355-357)ctG>ctT	p.L119L	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L118L(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTGCTGCTGGCCATGGCTT	0.517000													23	93					2.89027e-11	3.40085e-11	0.069288	1	0
FEZ1	9638	broad.mit.edu	37	11	125325834	125325834	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:125325834T>A	ENST00000278919.3	-	6	1070	c.836A>T	c.(835-837)aAc>aTc	p.N279I	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	279					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CTTCTGCTTGTTCTGAACCTC	0.542000													9	265					0	0	0.058154	0	0
ZIC4	84107	broad.mit.edu	37	3	147108987	147108987	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:147108987G>T	ENST00000383075.3	-	4	1247	c.735C>A	c.(733-735)ttC>ttA	p.F245L	ZIC4_ENST00000473123.1_Missense_Mutation_p.F245L|ZIC4_ENST00000484399.1_Missense_Mutation_p.F245L|ZIC4_ENST00000425731.3_Missense_Mutation_p.F283L|ZIC4_ENST00000525172.2_Missense_Mutation_p.F295L|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Missense_Mutation_p.F39L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	245						nucleus	DNA binding|zinc ion binding	p.F245L(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGCTGTTGGCGAAGCGCCGCT	0.612000													23	34					1.33986e-20	1.7505e-20	0.024334	1	0
IL1R1	3554	broad.mit.edu	37	2	102785058	102785058	+	Splice_Site	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:102785058A>C	ENST00000410023.1	+	7	974	c.655_splice	c.e7-1	p.E219_splice	IL1R1_ENST00000409288.1_Splice_Site_p.E219_splice|IL1R1_ENST00000409329.1_Splice_Site_p.E219_splice|IL1R1_ENST00000409929.1_Splice_Site_p.E219_splice|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_Splice_Site_p.E219_splice|IL1R1_ENST00000233946.3_Splice_Site_p.E219_splice			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	219					innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TTTCTTTCAGAGGAAAACAAA	0.433000													4	231					0	0	0.014758	0	0
PCLO	27445	broad.mit.edu	37	7	82544499	82544499	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:82544499C>G	ENST00000423517.2	-	7	13140	c.12803G>C	c.(12802-12804)gGa>gCa	p.G4268A	PCLO_ENST00000333891.8_Missense_Mutation_p.G4268A|PCLO_ENST00000437081.1_Missense_Mutation_p.G988A	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4199	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G4268A(4)		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						TATGGTATTTCCTAATGTGCC	0.468000													6	24					0	0	0.021553	0	0
MYO1F	4542	broad.mit.edu	37	19	8591385	8591385	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:8591385C>T	ENST00000338257.8	-	24	2989	c.2722G>A	c.(2722-2724)Ggt>Agt	p.G908S		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	908						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.G908S(1)		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						AGGGTCCGACCGCCAACCTTG	0.677000													2	2					0	0	0.004672	0	0
CCDC67	159989	broad.mit.edu	37	11	93118676	93118676	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:93118676G>C	ENST00000298050.3	+	8	1002	c.902G>C	c.(901-903)gGa>gCa	p.G301A	CCDC67_ENST00000525646.1_Missense_Mutation_p.G43A	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	301								p.G293A(2)		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)				TTAAAAATAGGAGAGTGCCAA	0.323000													12	36					0	0	0.010729	0	0
XIRP2	129446	broad.mit.edu	37	2	168100642	168100642	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:168100642T>C	ENST00000409195.1	+	9	2829	c.2740T>C	c.(2740-2742)Tgg>Cgg	p.W914R	XIRP2_ENST00000295237.9_Missense_Mutation_p.W914R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.W692R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	739					actin cytoskeleton organization	cell junction	actin binding	p.W914R(2)		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						GCATCAAAAATGGATTTTTGA	0.368000													26	75					0	0	0.021523	0	0
ALK	238	broad.mit.edu	37	2	29519878	29519878	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:29519878A>G	ENST00000389048.3	-	9	2599	c.1693T>C	c.(1693-1695)Tcc>Ccc	p.S565P	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	565	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.S565P(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGCACCAAGGACACGTTTCCC	0.547000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				16	117					0	0	0.033300	0	0
BHMT	635	broad.mit.edu	37	5	78426781	78426781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:78426781C>A	ENST00000274353.5	+	8	1170	c.1063C>A	c.(1063-1065)Ctt>Att	p.L355I	BHMT_ENST00000524080.1_Missense_Mutation_p.L202I|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	355					protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.L355I(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CTGGGAGAATCTTCGGATAGC	0.502000													110	127					1.44639e-49	2.07901e-49	0.048971	1	0
PIWIL4	143689	broad.mit.edu	37	11	94322291	94322291	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:94322291A>G	ENST00000299001.6	+	8	1130	c.919A>G	c.(919-921)Aat>Gat	p.N307D	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	307	PAZ.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	p.N307D(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGGCAGATACAATAACAGAAC	0.378000													19	76					0	0	0.038395	0	0
HOXB1	3211	broad.mit.edu	37	17	46607116	46607116	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:46607116C>A	ENST00000239174.6	-	2	791	c.699G>T	c.(697-699)agG>agT	p.R233S	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	233						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.R233S(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAATCTCCACCCTCCGGGCCC	0.567000													49	299					6.03219e-31	8.24178e-31	0.048971	1	0
COL6A6	131873	broad.mit.edu	37	3	130287011	130287011	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:130287011G>C	ENST00000358511.6	+	5	1995	c.1964G>C	c.(1963-1965)gGa>gCa	p.G655A	COL6A6_ENST00000453409.2_Missense_Mutation_p.G655A	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	655	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen		p.G655A(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCTCAGATTGGACCAGATCGG	0.418000													50	201					0	0	0.048971	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059650	11059650	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:11059650T>A	ENST00000287766.4	+	4	781	c.360T>A	c.(358-360)ccT>ccA	p.P120P	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	120					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P120P(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	AGCTGGCTCCTATGTTCAAGG	0.612000													46	226					0	0	0.048971	0	0
OR7A10	390892	broad.mit.edu	37	19	14952191	14952191	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:14952191G>C	ENST00000248058.1	-	1	498	c.499C>G	c.(499-501)Ccc>Gcc	p.P167A		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167A(2)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GTACAAAAGGGCAGTGGCAAC	0.428000													37	54					0	0	0.064281	0	0
TOP2A	7153	broad.mit.edu	37	17	38546301	38546301	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:38546301C>T	ENST00000423485.1	-	34	4541	c.4383G>A	c.(4381-4383)aaG>aaA	p.K1461K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1461					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TGCGGCGATTCTTGGTTTTGG	0.448000													5	64					0	0	0.014758	0	0
FRMPD3	84443	broad.mit.edu	37	X	106843773	106843773	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:106843773G>T	ENST00000276185.4	+	16	2603	c.2603G>T	c.(2602-2604)cGc>cTc	p.R868L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	868						cytoskeleton		p.R917L(2)|p.R868L(2)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TCTCTTGGGCGCCCGGATCCC	0.652000													20	20					1.87028e-06	2.0309e-06	0.062417	1	0
LAMC2	3918	broad.mit.edu	37	1	183189974	183189974	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:183189974A>T	ENST00000264144.4	+	5	583	c.518A>T	c.(517-519)tAc>tTc	p.Y173F	LAMC2_ENST00000493293.1_Missense_Mutation_p.Y173F	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	173	Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.Y173F(2)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CGATCAGGTTACTATAATCTG	0.443000													47	81					0	0	0.048971	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3672716	3672716	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:3672716C>A	ENST00000344754.4	-	16	4163	c.4164G>T	c.(4162-4164)acG>acT	p.T1388T	SIGLEC1_ENST00000202578.4_Silent_p.T1388T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1388	Ig-like C2-type 14.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.T1388T(1)		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						CCCCGCTGCTCGTGGCCAGCA	0.617000													5	35					0.000602214	0.000624829	0.014758	1	0
SDK2	54549	broad.mit.edu	37	17	71394318	71394318	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:71394318G>T	ENST00000392650.3	-	24	3210	c.3210C>A	c.(3208-3210)cgC>cgA	p.R1070R	SDK2_ENST00000388726.3_Silent_p.R1070R	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1070	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.R1070R(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCTGGCGCATGCGGAAGCTGG	0.627000													10	76					3.07112e-06	3.31077e-06	0.010729	1	0
DPEP2	64174	broad.mit.edu	37	16	68026508	68026508	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:68026508C>A	ENST00000412757.2	-	4	960	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	DPEP2_ENST00000393847.1_Missense_Mutation_p.V99F|DPEP2_ENST00000572888.1_Missense_Mutation_p.V99F			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	99					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.V99F(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TTCTGGTAAACCTGCCTTAGG	0.582000													41	130					1.48734e-19	1.92966e-19	0.045515	1	0
SH3BP4	23677	broad.mit.edu	37	2	235951264	235951264	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:235951264C>T	ENST00000409212.1	+	4	2358	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	SH3BP4_ENST00000392011.2_Silent_p.I617I|SH3BP4_ENST00000344528.4_Silent_p.I617I			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	617					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.I617M(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AAAGTGCCATCAAGCCTTCCG	0.547000													8	93					0	0	0.038147	0	0
LIG1	3978	broad.mit.edu	37	19	48620931	48620931	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:48620931G>A	ENST00000263274.7	-	26	2966	c.2547C>T	c.(2545-2547)ctC>ctT	p.L849L	LIG1_ENST00000536218.1_Silent_p.L781L|LIG1_ENST00000427526.2_Silent_p.L818L	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	849					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|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	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.L849L(2)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GAGAGAGGGAGAGGTCAGCGC	0.662000								Nucleotide excision repair (NER)					9	22					0	0	0.047766	0	0
DNAH1	25981	broad.mit.edu	37	3	52416404	52416404	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:52416404T>A	ENST00000420323.2	+	50	8135	c.7874T>A	c.(7873-7875)gTg>gAg	p.V2625E		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2625	AAA 4 (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)		CGAGATGATGTGAAGAAGGTC	0.572000													4	171					0	0	0.009096	0	0
SERBP1	26135	broad.mit.edu	37	1	67878931	67878931	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:67878931G>C	ENST00000370994.4	-	8	1237	c.1123C>G	c.(1123-1125)Cct>Gct	p.P375A	SERBP1_ENST00000370990.5_Missense_Mutation_p.P390A|SERBP1_ENST00000370995.2_Missense_Mutation_p.P396A|SERBP1_ENST00000361219.6_Missense_Mutation_p.P381A	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	396					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						TCCACATCAGGAGCAGAAGCA	0.418000													5	47					0	0	0.029380	0	0
C15orf26	161502	broad.mit.edu	37	15	81428997	81428997	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:81428997G>A	ENST00000286732.4	+	3	383	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	100								p.Q100Q(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						ATGAAATTCAGTCCCATCTGA	0.468000													26	110					0	0	0.027356	0	0
MACF1	23499	broad.mit.edu	37	1	39765882	39765882	+	Splice_Site	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:39765882G>C	ENST00000564288.1	+	22	3259	c.2481_splice	c.e22-1	p.D828_splice	MACF1_ENST00000361689.2_Splice_Site_p.D833_splice|MACF1_ENST00000539005.1_Splice_Site_p.D833_splice|MACF1_ENST00000317713.7_Splice_Site_p.D833_splice|MACF1_ENST00000567887.1_Splice_Site_p.D865_splice|MACF1_ENST00000372915.3_Splice_Site_p.D833_splice|MACF1_ENST00000545844.1_Splice_Site_p.D833_splice			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	833					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	p.D833H(2)		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)			CATTTTGTAGGATGAAAAGGA	0.418000													16	181					0	0	0.038395	0	0
CCDC170	80129	broad.mit.edu	37	6	151894422	151894422	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:151894422C>A	ENST00000367290.5	+	6	977	c.888C>A	c.(886-888)agC>agA	p.S296R	CCDC170_ENST00000239374.7_Missense_Mutation_p.S296R			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	296								p.S296R(2)									AGGAAGTGAGCCTCCTGAAGA	0.473000													17	47					9.16793e-09	1.04416e-08	0.033300	1	0
ODF3B	440836	broad.mit.edu	37	22	50969207	50969207	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:50969207C>A	ENST00000405135.1	-	5	730	c.661G>T	c.(661-663)Ggc>Tgc	p.G221C	ODF3B_ENST00000428989.2_Silent_p.L205L|ODF3B_ENST00000329363.4_Silent_p.L205L|ODF3B_ENST00000401779.1_Missense_Mutation_p.G182C|ODF3B_ENST00000403326.1_Silent_p.L137L			A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	0								p.L205L(1)		lung(2)	2						AAGTCCGCGCCAGAATCGTGA	0.667000													7	26					1.76689e-08	1.99109e-08	0.058154	1	0
FAM19A5	25817	broad.mit.edu	37	22	49042450	49042450	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:49042450C>A	ENST00000358295.5	+	2	308	c.133C>A	c.(133-135)Cgg>Agg	p.R45R	FAM19A5_ENST00000402357.1_Silent_p.R52R|FAM19A5_ENST00000473898.1_Intron	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	52						extracellular region|integral to membrane		p.R52R(1)|p.R45R(1)		large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GACCTTGGACCGGGACAGCAG	0.677000													6	43					0.0215528	0.021995	0.021553	1	0
MAEL	84944	broad.mit.edu	37	1	166973415	166973415	+	Splice_Site	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:166973415A>G	ENST00000367872.4	+	6	767		c.e6-1		MAEL_ENST00000367870.2_Splice_Site|MAEL_ENST00000491055.1_Splice_Site	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer						cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	p.?(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TATTTCCCTCAGGTGATTCTA	0.378000													9	177					0	0	0.010729	0	0
MAS1	4142	broad.mit.edu	37	6	160328002	160328002	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:160328002C>G	ENST00000252660.4	+	1	29	c.15C>G	c.(13-15)aaC>aaG	p.N5K		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	5					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	p.N5K(1)		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)		ATGGGTCAAACGTGACATCAT	0.458000													5	135					0	0	0.014758	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157686	65157686	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:65157686G>T	ENST00000323544.4	+	6	1200	c.1072G>T	c.(1072-1074)Gct>Tct	p.A358S	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	358	Pro-rich.							p.A358S(2)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCCTCTCAGGCTGAGGGCAC	0.617000													31	76					9.78306e-22	1.28715e-21	0.041601	1	0
DNAH7	56171	broad.mit.edu	37	2	196620908	196620908	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:196620908T>C	ENST00000312428.6	-	62	11635	c.11535A>G	c.(11533-11535)aaA>aaG	p.K3845K	DNAH7_ENST00000409063.1_Silent_p.K328K	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3845					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						TGCCAAGTGGTTTAAGGCTTG	0.393000													4	130					0	0	0.009096	0	0
MMS22L	253714	broad.mit.edu	37	6	97597755	97597755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:97597755C>T	ENST00000275053.4	-	24	3889	c.3624G>A	c.(3622-3624)tgG>tgA	p.W1208*	MMS22L_ENST00000369251.2_Nonsense_Mutation_p.W1168*	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1208					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	p.W1208*(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGCCAAGGCCCCATTTCTGCT	0.363000													14	57					0	0	0.020292	0	0
GBP3	2635	broad.mit.edu	37	1	89481019	89481019	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:89481019T>G	ENST00000370481.4	-	3	489	c.269A>C	c.(268-270)gAa>gCa	p.E90A	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	90						integral to membrane	GTP binding|GTPase activity	p.E90A(2)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TAAGGTGTGTTCTGGCTTTTT	0.458000													33	245					0	0	0.045705	0	0
SPINK7	84651	broad.mit.edu	37	5	147693664	147693664	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:147693664T>A	ENST00000523535.1	+	1	28	c.11T>A	c.(10-12)gTg>gAg	p.V4E	RP11-373N22.3_ENST00000501695.3_RNA|SPINK7_ENST00000274565.4_Splice_Site_p.V30_splice|SPINK7_ENST00000514394.1_3'UTR			P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)	30						extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.V30E(2)		large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACACAGGTGGACTGCAGC	0.468000													113	116					0	0	0.048971	0	0
FGD4	121512	broad.mit.edu	37	12	32735077	32735077	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:32735077T>C	ENST00000427716.2	+	4	700	c.276T>C	c.(274-276)ggT>ggC	p.G92G	FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000534526.2_Silent_p.G229G|FGD4_ENST00000531134.1_Silent_p.G177G|FGD4_ENST00000546442.1_5'UTR|FGD4_ENST00000472289.1_Silent_p.G92G|FGD4_ENST00000525053.1_Silent_p.G204G	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	92	Actin filament-binding (By similarity).				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|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.G92G(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGGCCAACGGTGTAATGGCAG	0.488000													13	541					0	0	0.024245	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123802	26123802	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:26123802C>G	ENST00000314332.5	-	1	336	c.331G>C	c.(331-333)Gcc>Ccc	p.A111P	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.A111P			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	111					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.A111P(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						TCCGACACGGCGTGCTTGGCC	0.587000													14	170					0	0	0.016723	0	0
CBLB	868	broad.mit.edu	37	3	105378032	105378032	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:105378032G>A	ENST00000264122.4	-	19	3052	c.2731C>T	c.(2731-2733)Cgc>Tgc	p.R911C	CBLB_ENST00000394027.3_Missense_Mutation_p.R889C|CBLB_ENST00000407712.1_Missense_Mutation_p.R126C	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	911	Interaction with SH3KBP1.|Pro-rich.			R -> C (in Ref. 7; CAH56175).	cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	p.R911C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GCAGTCCTGCGCGGTCGTGGT	0.453000			Mis S		AML								8	106					0	0	0.047766	0	0
NDP	4693	broad.mit.edu	37	X	43817789	43817789	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:43817789C>T	ENST00000378062.5	-	2	510	c.103G>A	c.(103-105)Gac>Aac	p.D35N	NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_Intron	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	35					canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity			kidney(1)|lung(2)	3						CGTCGAGGGTCCGAGTCCATT	0.473000													11	591					0	0	0.069234	0	0
LTBP2	4053	broad.mit.edu	37	14	74975375	74975375	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:74975375C>T	ENST00000261978.4	-	24	3970	c.3584G>A	c.(3583-3585)aGc>aAc	p.S1195N	LTBP2_ENST00000556690.1_Missense_Mutation_p.S1195N	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1195	Cys-rich.|EGF-like 12; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.S1195N(3)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGACCCGTGGCTGTTGAGGCA	0.632000													19	62					0	0	0.069288	0	0
ZC3H18	124245	broad.mit.edu	37	16	88653008	88653008	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:88653008G>T	ENST00000301011.5	+	3	804	c.603_splice	c.e3-1	p.D202_splice	ZC3H18_ENST00000452588.2_Splice_Site_p.D202_splice	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	202	Poly-Asp.					nucleus	nucleic acid binding|zinc ion binding	p.D202Y(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCTGTTTCAGGATGATGACCT	0.537000													23	76					2.32416e-17	2.9537e-17	0.069288	1	0
DPP6	1804	broad.mit.edu	37	7	154379601	154379601	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:154379601T>G	ENST00000406326.1	+	6	1272	c.869T>G	c.(868-870)cTg>cGg	p.L290R	DPP6_ENST00000427557.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.L290R(2)		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)			AGACCCTGGCTGGAGGATTGC	0.567000													81	160					0	0	0.048971	0	0
ANK3	288	broad.mit.edu	37	10	61874084	61874084	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:61874084T>C	ENST00000280772.1	-	26	3038	c.2847A>G	c.(2845-2847)ctA>ctG	p.L949L	ANK3_ENST00000373827.2_Silent_p.L943L|ANK3_ENST00000503366.1_Silent_p.L950L|ANK3_ENST00000355288.2_Silent_p.L83L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	949					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.L949L(2)|p.L584L(2)|p.L83L(2)		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						TTGTGAATGTTAGATGCTGAA	0.328000													10	63					0	0	0.058154	0	0
PIGO	84720	broad.mit.edu	37	9	35092310	35092310	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:35092310A>C	ENST00000378617.3	-	7	1968	c.1574T>G	c.(1573-1575)tTt>tGt	p.F525C	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.F525C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	525					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.F525C(2)		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)			TTTCCACAGAAAAGGGAGGAA	0.582000													69	45					0	0	0.048971	0	0
RTN4	57142	broad.mit.edu	37	2	55253716	55253716	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:55253716C>T	ENST00000337526.6	-	3	1762	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	RTN4_ENST00000354474.6_Missense_Mutation_p.E275K|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.E301K|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.E301K|RTN4_ENST00000357376.3_Missense_Mutation_p.E301K|RTN4_ENST00000404909.1_Missense_Mutation_p.E301K	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	507					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	p.E301K(2)|p.E507K(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GTATTCTTCTCTGTTACTATT	0.353000													35	153					0	0	0.059317	0	0
FAR2	55711	broad.mit.edu	37	12	29486613	29486613	+	Silent	SNP	C	C	T	rs142204438	by1000genomes	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:29486613C>T	ENST00000182377.4	+	12	1702	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	FAR2_ENST00000536681.2_Silent_p.A478A|FAR2_ENST00000547116.1_Silent_p.A381A	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	478					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	p.A478A(2)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TCCTTATCGCCTGGCGCCTTC	0.438000													39	177					0	0	0.025465	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88885469	88885469	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:88885469C>G	ENST00000303236.3	-	9	1841	c.1540G>C	c.(1540-1542)Gat>Cat	p.D514H	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D363H	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	514					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	p.D514H(2)		ovary(3)	3						AGAACAGGATCCTTTTTGCGG	0.398000													74	140					0	0	0.048971	0	0
OR10T2	128360	broad.mit.edu	37	1	158368853	158368853	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:158368853A>C	ENST00000334438.1	-	1	403	c.404T>G	c.(403-405)cTc>cGc	p.L135R		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L135R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GTTTATGATGAGTGTGTACCT	0.463000													45	185					0	0	0.048971	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181273	57181273	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:57181273G>T	ENST00000504228.1	+	6	1710	c.1605G>T	c.(1603-1605)cgG>cgT	p.R535R	KIAA1211_ENST00000541073.1_Silent_p.R528R|KIAA1211_ENST00000264229.6_Silent_p.R535R			Q6ZU35	K1211_HUMAN	KIAA1211	535								p.R535R(2)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCATGCCCCGGCCCTACACGT	0.642000													17	20					4.35082e-09	4.98573e-09	0.055883	1	0
FMN2	56776	broad.mit.edu	37	1	240493928	240493928	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:240493928T>C	ENST00000319653.9	+	11	4693	c.4463T>C	c.(4462-4464)aTg>aCg	p.M1488T	FMN2_ENST00000545751.1_Missense_Mutation_p.M84T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1488	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	p.M1631T(2)		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)			CCAGGGGTTATGCAGGTTCTA	0.383000													52	84					0	0	0.048971	0	0
BPIFB3	359710	broad.mit.edu	37	20	31661396	31661396	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:31661396G>T	ENST00000375494.3	+	15	1416	c.1416G>T	c.(1414-1416)ctG>ctT	p.L472L		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	472					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	p.L472L(2)									CTGTTGTGCTGACCGTGGCAT	0.557000													34	116					9.8876e-21	1.29406e-20	0.074837	1	0
WNT10B	7480	broad.mit.edu	37	12	49362003	49362003	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:49362003C>A	ENST00000301061.4	-	4	785	c.437G>T	c.(436-438)tGt>tTt	p.C146F	WNT10B_ENST00000407467.1_Missense_Mutation_p.C146F|WNT10B_ENST00000403957.1_Missense_Mutation_p.C146F	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	146					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.C146F(2)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CTTCCAGCCACAGCCACAGCT	0.622000													20	46					5.35047e-06	5.7431e-06	0.018920	1	0
PLA2G2A	5320	broad.mit.edu	37	1	20304613	20304613	+	Splice_Site	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:20304613A>T	ENST00000375111.3	-	5	458	c.185_splice	c.e5-1	p.C63_splice	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Splice_Site_p.C63_splice	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	63					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	p.C63S(2)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACACAGCAGCTGTGAGGA	0.562000													24	58					0	0	0.021523	0	0
NMS	129521	broad.mit.edu	37	2	101093874	101093874	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:101093874G>A	ENST00000376865.1	+	5	266	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	87					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		p.G87R(2)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						AGTTAAAACTGGGGTCAGTAT	0.383000													18	65					0	0	0.062417	0	0
OR52B2	255725	broad.mit.edu	37	11	6190952	6190952	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:6190952A>G	ENST00000530810.1	-	1	686	c.605T>C	c.(604-606)tTc>tCc	p.F202S	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F202S(4)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCACTGAGAAGCCATACCA	0.488000													9	40					0	0	0.013537	0	0
FLNC	2318	broad.mit.edu	37	7	128497383	128497383	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:128497383G>T	ENST00000325888.8	+	46	8034	c.7773G>T	c.(7771-7773)aaG>aaT	p.K2591N	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.K2558N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2591	Interaction with INPPL1.				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						TCAAGGCCAAGGTCACTGGTG	0.632000													4	67					0.00116845	0.00121064	0.021553	1	0
DNAH8	1769	broad.mit.edu	37	6	38867598	38867598	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:38867598G>T	ENST00000359357.3	+	60	8713	c.8459G>T	c.(8458-8460)gGt>gTt	p.G2820V	DNAH8_ENST00000441566.1_Missense_Mutation_p.G2784V|DNAH8_ENST00000449981.2_Missense_Mutation_p.G3037V					dynein, axonemal, heavy chain 8									p.G2820V(4)		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						TTGCTGGTGGGTGTTGGTGGT	0.353000													13	97					0.000151284	0.000159404	0.016723	1	0
OR6A2	8590	broad.mit.edu	37	11	6816486	6816486	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:6816486C>A	ENST00000332601.3	-	1	642	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152C(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCCAAGAGCCAGCAGCCATC	0.502000													30	72					7.26314e-15	8.98558e-15	0.034045	1	0
USP54	159195	broad.mit.edu	37	10	75289573	75289573	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:75289573C>G	ENST00000339859.4	-	14	2025	c.1925G>C	c.(1924-1926)cGg>cCg	p.R642P	USP54_ENST00000428547.1_Missense_Mutation_p.R492P|USP54_ENST00000408019.1_Missense_Mutation_p.R642P|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.R642P			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	642					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.R642P(2)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGAGCCTGGCCGTGCTGGGCC	0.522000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	174					0	0	0.048971	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990391	39990391	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:39990391G>T	ENST00000332312.3	-	4	2010	c.1818C>A	c.(1816-1818)agC>agA	p.S606R		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	606						proteinaceous extracellular matrix		p.S606R(2)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CAGAGTACTGGCTGACAGAGT	0.582000													62	105					3.00472e-47	4.30235e-47	0.048971	1	0
FCRLB	127943	broad.mit.edu	37	1	161692781	161692781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:161692781C>A	ENST00000367948.2	+	4	249	c.34C>A	c.(34-36)Cca>Aca	p.P12T	FCRLB_ENST00000367944.3_Intron|FCRLB_ENST00000367946.3_Missense_Mutation_p.P12T|FCRLB_ENST00000367945.1_Intron|FCRLB_ENST00000392158.1_Missense_Mutation_p.P12T|FCRLB_ENST00000336830.5_Missense_Mutation_p.P12T			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	12						endoplasmic reticulum		p.P12T(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TTCTGCAGTTCCAAGCAGTGG	0.458000													45	84					8.86878e-18	1.12903e-17	0.048971	1	0
RTN4	57142	broad.mit.edu	37	2	55253145	55253145	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:55253145A>G	ENST00000337526.6	-	3	2333	c.2090T>C	c.(2089-2091)aTt>aCt	p.I697T	RTN4_ENST00000354474.6_Missense_Mutation_p.I465T|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.I491T|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.I491T|RTN4_ENST00000357376.3_Missense_Mutation_p.I491T|RTN4_ENST00000404909.1_Missense_Mutation_p.I491T	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	697					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	p.I491T(2)|p.I697T(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						ATCACATGCAATAGATATATA	0.343000													52	107					0	0	0.048971	0	0
KCNC2	3747	broad.mit.edu	37	12	75444633	75444633	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:75444633C>A	ENST00000549446.1	-	3	1832	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	KCNC2_ENST00000393288.2_Silent_p.L384L|KCNC2_ENST00000550433.1_Silent_p.L384L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Silent_p.L384L|KCNC2_ENST00000540018.1_Silent_p.L384L|KCNC2_ENST00000350228.2_Silent_p.L384L|KCNC2_ENST00000298972.1_Silent_p.L384L|KCNC2_ENST00000548513.1_Silent_p.L384L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	384					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.L384L(4)		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						AAATTATCAGCAGCAAAAATT	0.453000													18	73					2.5808e-16	3.24667e-16	0.038395	1	0
WNK1	65125	broad.mit.edu	37	12	970256	970256	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:970256G>C	ENST00000537687.1	+	7	2341	c.1698G>C	c.(1696-1698)aaG>aaC	p.K566N	WNK1_ENST00000535572.1_Missense_Mutation_p.K566N|WNK1_ENST00000530271.2_Missense_Mutation_p.K566N|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Missense_Mutation_p.K159N|WNK1_ENST00000315939.6_Missense_Mutation_p.K566N	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	566					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.K566N(4)		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)			CATTAATTAAGAGGAAACGAG	0.433000													78	324					0	0	0.048971	0	0
MCHR2	84539	broad.mit.edu	37	6	100395759	100395759	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:100395759G>A	ENST00000281806.2	-	3	585	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	MCHR2_ENST00000369212.1_Missense_Mutation_p.H91Y|MCHR2_ENST00000445970.1_Missense_Mutation_p.H91Y	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	91						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H91Y(2)		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)		GCCCATTGGTGAATAAGAAAA	0.483000													35	144					0	0	0.054565	0	0
SNHG14	104472715	broad.mit.edu	37	15	25468213	25468213	+	RNA	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:25468213G>T	ENST00000453082.2	+	0	761					NR_003343.1																						CAGATGGTGAGACTTGAGGAA	0.612000													8	16					0.000157383	0.000165131	0.038147	1	0
RGL1	23179	broad.mit.edu	37	1	183885633	183885633	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:183885633C>T	ENST00000304685.3	+	17	2368	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	RGL1_ENST00000536277.1_Missense_Mutation_p.S599F|RGL1_ENST00000360851.3_Missense_Mutation_p.S601F|RGL1_ENST00000539189.1_Missense_Mutation_p.S572F|RGL1_ENST00000367531.1_Missense_Mutation_p.S636F	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	601					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	p.S636F(2)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GACACAAATTCCTCAGGGATG	0.507000													63	209					0	0	0.048971	0	0
PCDH15	65217	broad.mit.edu	37	10	55591271	55591271	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:55591271C>A	ENST00000373965.2	-	31	4421	c.4027G>T	c.(4027-4029)Gat>Tat	p.D1343Y	PCDH15_ENST00000320301.6_Missense_Mutation_p.D1336Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1343Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1336Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1265Y|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1314Y|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.D947Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1341Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1336Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1336Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1299Y|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1336					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D1336Y(4)|p.D1341Y(4)		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)				TTATTGATATCAAGTAGTTTG	0.353000										HNSCC(58;0.16)			26	65					3.17567e-06	3.41854e-06	0.037714	1	0
ZBTB20	26137	broad.mit.edu	37	3	114057870	114057870	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:114057870C>A	ENST00000462705.1	-	12	2810	c.1989G>T	c.(1987-1989)atG>atT	p.M663I	ZBTB20_ENST00000471418.1_Missense_Mutation_p.M663I|ZBTB20_ENST00000393785.2_Missense_Mutation_p.M663I|ZBTB20_ENST00000481632.1_Missense_Mutation_p.M663I|ZBTB20_ENST00000464560.1_Missense_Mutation_p.M663I|ZBTB20_ENST00000357258.3_Missense_Mutation_p.M663I|ZBTB20_ENST00000474710.1_Missense_Mutation_p.M736I	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M663I(2)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CAGACACATGCATCCTCATGT	0.453000													40	73					3.68427e-32	5.07097e-32	0.039052	1	0
NUMB	8650	broad.mit.edu	37	14	73743882	73743882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:73743882G>A	ENST00000556772.1	-	7	3215	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	NUMB_ENST00000555394.1_Nonsense_Mutation_p.Q406*|NUMB_ENST00000555238.1_Nonsense_Mutation_p.Q454*|NUMB_ENST00000559312.1_Nonsense_Mutation_p.Q259*|NUMB_ENST00000554521.2_Nonsense_Mutation_p.Q248*|NUMB_ENST00000554546.1_Nonsense_Mutation_p.Q395*|NUMB_ENST00000359560.3_Nonsense_Mutation_p.Q443*|NUMB_ENST00000356296.4_Nonsense_Mutation_p.Q406*|NUMB_ENST00000557597.1_Nonsense_Mutation_p.Q443*|NUMB_ENST00000454166.4_Nonsense_Mutation_p.Q308*|NUMB_ENST00000535282.1_Nonsense_Mutation_p.Q443*|NUMB_ENST00000555738.2_Nonsense_Mutation_p.Q297*|NUMB_ENST00000355058.3_Nonsense_Mutation_p.Q454*|NUMB_ENST00000544991.3_Nonsense_Mutation_p.Q259*|NUMB_ENST00000560335.1_Nonsense_Mutation_p.Q308*			P49757	NUMB_HUMAN	numb homolog (Drosophila)	454					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		p.Q454*(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TGGGGCTGCTGAGCCCGGACG	0.602000													16	53					0	0	0.024245	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170193	107170193	+	RNA	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:107170193A>T	ENST00000390633.2	-	0	149																											AGGCTTCTTCACCTCAGCCCC	0.577000													31	61					0	0	0.050027	0	0
LEF1	51176	broad.mit.edu	37	4	109088767	109088767	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:109088767T>C	ENST00000379951.2	-	1	1345	c.157A>G	c.(157-159)Atc>Gtc	p.I53V	LEF1_ENST00000265165.1_Missense_Mutation_p.I53V|LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000438313.2_Missense_Mutation_p.I53V	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	53	CTNNB1-binding (By similarity).				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	p.I53V(2)		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)		GAAGACTTGATGTCAGCTAAA	0.587000													36	143					0	0	0.074837	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218650	130218650	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:130218650C>T	ENST00000276211.5	+	6	1144	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R255C|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R131C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	267	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R267C(2)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCAGCGAGTGCGTCAGGTAAA	0.498000													22	219					0	0	0.055883	0	0
HNRNPU	3192	broad.mit.edu	37	1	245018903	245018903	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:245018903C>T	ENST00000444376.2	-	12	2352	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G	HNRNPU_ENST00000283179.9_Silent_p.G725G	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	725	Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	p.G725G(2)|p.G706G(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CGCCACGATTCCCAGGGGCTA	0.468000													11	90					0	0	0.024245	0	0
LPP	4026	broad.mit.edu	37	3	188202445	188202445	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:188202445A>T	ENST00000312675.4	+	4	505	c.259A>T	c.(259-261)Aac>Tac	p.N87Y	LPP_ENST00000543006.1_Missense_Mutation_p.N87Y|LPP_ENST00000448637.1_Missense_Mutation_p.N87Y	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	87	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	p.N87Y(2)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TATCTCTGGAAACTTTCCTCC	0.413000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								51	290					0	0	0.048971	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386491	41386491	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:41386491C>A	ENST00000301146.4	-	3	927	c.386G>T	c.(385-387)cGc>cTc	p.R129L	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.R78L	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	129						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R129L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GATGGCAAAGCGCAGGAGCTG	0.697000													14	38					6.31663e-08	7.04365e-08	0.024245	1	0
ERVW-1	30816	broad.mit.edu	37	7	92099512	92099512	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:92099512A>T	ENST00000493463.2	-	1	1107	c.184T>A	c.(184-186)Ttc>Atc	p.F62I	AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Missense_Mutation_p.F62I|ERVW-1_ENST00000604270.1_Intron	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		62					syncytium formation	integral to membrane|plasma membrane|virion		p.F62I(2)		endometrium(1)|large_intestine(1)|lung(15)	17						tgggcagtgaaggtgggggtt	0.478000													63	203					0	0	0.048971	0	0
GPR113	165082	broad.mit.edu	37	2	26534034	26534034	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:26534034G>C	ENST00000333478.6	-	8	2547	c.1965C>G	c.(1963-1965)gcC>gcG	p.A655A	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.A785A|GPR113_ENST00000311519.1_Silent_p.A854A|GPR113_ENST00000541401.1_Silent_p.A457A	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	854					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A655A(1)|p.A854A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAAAAGGTGGCCAGGTAGA	0.622000													7	14					0	0	0.038147	0	0
NRXN3	9369	broad.mit.edu	37	14	79434538	79434538	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:79434538G>T	ENST00000554719.1	+	11	2363	c.1872G>T	c.(1870-1872)ctG>ctT	p.L624L	NRXN3_ENST00000335750.5_Silent_p.L624L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	228					angiogenesis|cell adhesion	integral to membrane		p.L624L(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGCTGGTCTGGCCCAAGGCA	0.488000													42	62					4.0306e-16	5.02814e-16	0.048971	1	0
TTN	7273	broad.mit.edu	37	2	179550274	179550274	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:179550274G>A	ENST00000589042.1	-	128	32587	c.32363C>T	c.(32362-32364)tCt>tTt	p.S10788F	TTN_ENST00000591111.1_Missense_Mutation_p.S10471F|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S9544F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10471	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S9544F(2)|p.S9544Y(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)			CACTCTCTTAGAAATAATGTG	0.358000													16	27					0	0	0.038395	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134478232	134478232	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:134478232C>A	ENST00000319914.5	-	5	1435	c.408G>T	c.(406-408)tcG>tcT	p.S136S	ST3GAL1_ENST00000522652.1_Silent_p.S136S|ST3GAL1_ENST00000521180.1_Silent_p.S136S|ST3GAL1_ENST00000399640.2_Silent_p.S136S			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	136					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	p.S136S(2)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GGCAGCCCACCGACCTCTTCT	0.577000													34	114					1.08052e-11	1.28355e-11	0.069456	1	0
SPANXN2	494119	broad.mit.edu	37	X	142795241	142795241	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:142795241C>T	ENST00000370498.1	-	2	1190	c.437G>A	c.(436-438)gGa>gAa	p.G146E		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	146								p.I24I(2)|p.G146E(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGAAGATCCTTCAGATGA	0.527000													86	668					0	0	0.048971	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704107	52704107	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:52704107C>T	ENST00000287727.3	+	4	1190	c.1018C>T	c.(1018-1020)Ctt>Ttt	p.L340F	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.L340F|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.L340F|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.L340F	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	340					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	p.L340F(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TTTACCTTTGCTTCTCAAACC	0.453000													54	123					0	0	0.048971	0	0
CLMN	79789	broad.mit.edu	37	14	95677189	95677189	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:95677189C>G	ENST00000298912.4	-	7	749	c.636G>C	c.(634-636)gcG>gcC	p.A212A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	212	Actin-binding.|CH 2.					integral to membrane	actin binding	p.A212A(1)		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)		TCCAACTGCCCGCAAAGTCCT	0.562000													19	193					0	0	0.037714	0	0
CCSER1	401145	broad.mit.edu	37	4	91230336	91230336	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:91230336G>T	ENST00000509176.1	+	2	1189	c.901G>T	c.(901-903)Gct>Tct	p.A301S	CCSER1_ENST00000432775.2_Missense_Mutation_p.A301S|CCSER1_ENST00000333691.8_Missense_Mutation_p.A301S	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1									p.A301S(4)									CCTCAATTCTGCTGCTGTTAC	0.433000													65	183					1.34159e-35	1.86722e-35	0.048971	1	0
KIAA1033	23325	broad.mit.edu	37	12	105538144	105538144	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:105538144G>T	ENST00000332180.5	+	21	2177	c.2090G>T	c.(2089-2091)cGa>cTa	p.R697L		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	697					endosome transport	WASH complex		p.R697L(2)|p.R697Q(1)		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						CTGGATGACCGAAACCCTTTC	0.373000													31	99					3.11337e-16	3.89694e-16	0.054565	1	0
MAST3	23031	broad.mit.edu	37	19	18254604	18254604	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:18254604T>G	ENST00000262811.5	+	21	2284	c.2284T>G	c.(2284-2286)Tgt>Ggt	p.C762G		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	762							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TGGATCCTCCTGTCAGTCATC	0.592000													4	37					0	0	0.009096	0	0
PRPF39	55015	broad.mit.edu	37	14	45571881	45571881	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:45571881A>G	ENST00000355765.6	+	5	889	c.719A>G	c.(718-720)tAt>tGt	p.Y240C		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	240					mRNA processing|RNA splicing	nucleus	binding	p.Y240C(2)|p.Y119C(2)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ACACAGCTGTATAGTCATCAT	0.338000													86	201					0	0	0.048971	0	0
ACACB	32	broad.mit.edu	37	12	109647064	109647064	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:109647064G>A	ENST00000338432.7	+	21	3274	c.3155G>A	c.(3154-3156)cGc>cAc	p.R1052H	ACACB_ENST00000377854.5_Missense_Mutation_p.R1052H|ACACB_ENST00000377848.3_Missense_Mutation_p.R1052H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1052					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GTGGCAGGCCGCATCCCCGCC	0.637000													3	13					0	0	0.004672	0	0
UNC13C	440279	broad.mit.edu	37	15	54305855	54305855	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:54305855G>T	ENST00000545554.1	+	1	755	c.755G>T	c.(754-756)gGa>gTa	p.G252V	UNC13C_ENST00000537900.1_Missense_Mutation_p.G252V|UNC13C_ENST00000260323.11_Missense_Mutation_p.G252V			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	252					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G252V(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAACTTCAGGGAATAAGTCAG	0.463000													30	95					2.4375e-19	3.14597e-19	0.034045	1	0
FAM111B	374393	broad.mit.edu	37	11	58891882	58891882	+	Missense_Mutation	SNP	C	C	A	rs150852006		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:58891882C>A	ENST00000343597.3	+	4	503	c.312C>A	c.(310-312)agC>agA	p.S104R	FAM111B_ENST00000411426.1_Missense_Mutation_p.S74R|FAM111B_ENST00000529618.1_Missense_Mutation_p.S74R	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	104				S -> G (in Ref. 3; AAH62456).			catalytic activity	p.S104R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GTAAACCCAGCGAGAGTATCT	0.338000													35	85					2.47316e-13	3.00975e-13	0.059317	1	0
SRBD1	55133	broad.mit.edu	37	2	45616530	45616530	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:45616530G>A	ENST00000263736.4	-	21	2969	c.2907C>T	c.(2905-2907)ccC>ccT	p.P969P	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Silent_p.P488P	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	969	S1 motif.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTCTTTCTCCGGGGCCCAGTC	0.468000													4	134					0	0	0.009096	0	0
AFF3	3899	broad.mit.edu	37	2	100210522	100210522	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:100210522C>T	ENST00000317233.4	-	14	1836	c.1601G>A	c.(1600-1602)aGg>aAg	p.R534K	AFF3_ENST00000356421.2_Missense_Mutation_p.R559K|AFF3_ENST00000409236.1_Missense_Mutation_p.R534K|AFF3_ENST00000409579.1_Missense_Mutation_p.R559K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	534					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R559K(2)		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						GTTGGCTGTCCTTGGCCTTTG	0.647000													131	191					0	0	0.048971	0	0
FST	10468	broad.mit.edu	37	5	52779455	52779455	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:52779455G>A	ENST00000396947.3	+	3	565	c.399G>A	c.(397-399)ggG>ggA	p.G133G	FST_ENST00000256759.3_Silent_p.G133G	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	133	Kazal-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	p.G133G(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CAGTCTGCGGGCTGGATGGGA	0.512000													26	61					0	0	0.018920	0	0
CALHM1	255022	broad.mit.edu	37	10	105218247	105218247	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:105218247G>T	ENST00000329905.5	-	1	398	c.262C>A	c.(262-264)Cgc>Agc	p.R88S	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	88						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	p.R88S(1)		large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TTGGCCCGGCGGCCCAGCGGC	0.662000													9	32					3.07112e-06	3.31077e-06	0.010729	1	0
PTPLA	9200	broad.mit.edu	37	10	17636321	17636321	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:17636321C>T	ENST00000361271.3	-	6	704	c.667G>A	c.(667-669)Gct>Act	p.A223T		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	223					fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity	p.A223T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						GGCAAGGCAGCGTATATTGTA	0.313000													5	99					0	0	0.014758	0	0
TAF3	83860	broad.mit.edu	37	10	8056639	8056639	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:8056639G>C	ENST00000344293.5	+	7	2921	c.2715G>C	c.(2713-2715)atG>atC	p.M905I		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	905					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	p.M905I(2)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CAGAAGAGATGCAGTGGTTCT	0.507000													16	43					0	0	0.033300	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33628193	33628193	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:33628193C>T	ENST00000321505.4	+	13	4175	c.3995C>T	c.(3994-3996)gCg>gTg	p.A1332V	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1338V					KIAA1549-like									p.A1332V(1)									TCAGTGCCAGCGAGTGACGAA	0.483000													7	85					0	0	0.069234	0	0
FRMPD1	22844	broad.mit.edu	37	9	37724227	37724227	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:37724227T>C	ENST00000539465.1	+	7	1115	c.522T>C	c.(520-522)aaT>aaC	p.N174N	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.N174N|FRMPD1_ENST00000536622.1_5'UTR|FRMPD1_ENST00000541302.1_Silent_p.N43N			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	174						cytoskeleton|cytosol|plasma membrane		p.N174N(2)		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)		TCCAGGGTAATTCTCTGCTGT	0.443000													84	38					0	0	0.048971	0	0
TNR	7143	broad.mit.edu	37	1	175331897	175331897	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:175331897G>C	ENST00000367674.1	-	14	3464	c.2756C>G	c.(2755-2757)aCc>aGc	p.T919S	TNR_ENST00000263525.2_Missense_Mutation_p.T919S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	919	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.T919S(2)		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)					TCTGGTGATGGTGAATTCTGT	0.517000													45	154					0	0	0.048971	0	0
C21orf62	56245	broad.mit.edu	37	21	34166538	34166538	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr21:34166538G>A	ENST00000536776.1	-	2	335	c.195C>T	c.(193-195)acC>acT	p.T65T	C21orf49_ENST00000453404.1_Intron|C21orf62_ENST00000487113.1_Silent_p.T65T|C21orf62_ENST00000479548.1_Silent_p.T65T|C21orf62_ENST00000490358.1_Silent_p.T65T|C21orf49_ENST00000477513.1_Intron|C21orf49_ENST00000382378.1_Intron|C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000382377.3_Intron	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	65										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				GGGGCAGGACGGTTTTACAGT	0.537000													11	123					0	0	0.069234	0	0
SEC62	7095	broad.mit.edu	37	3	169693437	169693437	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:169693437G>T	ENST00000337002.4	+	2	136	c.78G>T	c.(76-78)aaG>aaT	p.K26N	SEC62_ENST00000480708.1_Missense_Mutation_p.K26N	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	26					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	p.K26N(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						CTGTGGCCAAGTATCTTCGAT	0.353000													35	72					6.97489e-18	8.89447e-18	0.074837	1	0
C7orf31	136895	broad.mit.edu	37	7	25175779	25175779	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:25175779T>C	ENST00000409280.1	-	10	1893	c.1585A>G	c.(1585-1587)Att>Gtt	p.I529V	C7orf31_ENST00000283905.3_Missense_Mutation_p.I529V			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	529										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GCTCTAGGAATCCAACCAAGA	0.388000													6	224					0	0	0.029380	0	0
GLB1L2	89944	broad.mit.edu	37	11	134240907	134240907	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:134240907C>G	ENST00000535456.2	+	13	1409	c.1221C>G	c.(1219-1221)atC>atG	p.I407M	GLB1L2_ENST00000389881.3_Missense_Mutation_p.I407M|GLB1L2_ENST00000339772.7_Missense_Mutation_p.I407M|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	407					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.I407M(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGCAGCCAATCAAGTCTGAAA	0.567000													53	309					0	0	0.048971	0	0
LILRB2	10288	broad.mit.edu	37	19	54783844	54783844	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:54783844G>T	ENST00000391748.1	-	4	284	c.157C>A	c.(157-159)Ctt>Att	p.L53I	LILRB2_ENST00000391746.1_Missense_Mutation_p.L53I|LILRB2_ENST00000314446.5_Missense_Mutation_p.L53I|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000434421.1_Intron|LILRB2_ENST00000391749.4_Missense_Mutation_p.L53I	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	53	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L53I(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGCTTCAAGGCTCCCCTGA	0.547000													147	133					1.24568e-56	1.79744e-56	0.048971	1	0
FAM47C	442444	broad.mit.edu	37	X	37028810	37028810	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:37028810C>A	ENST00000358047.3	+	1	2379	c.2327C>A	c.(2326-2328)cCa>cAa	p.P776Q		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	776								p.P776Q(4)		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						CATCTCCACCCAGAGCTTCCC	0.632000													12	21					3.27435e-08	3.67318e-08	0.020292	1	0
KIF24	347240	broad.mit.edu	37	9	34257209	34257209	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:34257209T>G	ENST00000379166.2	-	11	2515	c.2396A>C	c.(2395-2397)cAg>cCg	p.Q799P	KIF24_ENST00000402558.2_Missense_Mutation_p.Q799P|KIF24_ENST00000379174.3_Missense_Mutation_p.Q665P|KIF24_ENST00000345050.2_Missense_Mutation_p.Q665P	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	799					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.Q281P(2)|p.Q799P(2)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ATTCGTGAGCTGACCCTCTGG	0.478000													69	157					0	0	0.048971	0	0
FAM135B	51059	broad.mit.edu	37	8	139164527	139164527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:139164527C>A	ENST00000395297.1	-	13	2361	c.2191G>T	c.(2191-2193)Gga>Tga	p.G731*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	731								p.G731L(4)		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)			TCTGTGTGTCCACCCTCTAGG	0.557000										HNSCC(54;0.14)			31	57					2.46105e-21	3.2323e-21	0.045705	1	0
KCNJ1	3758	broad.mit.edu	37	11	128710054	128710054	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:128710054T>A	ENST00000392665.2	-	2	229	c.85A>T	c.(85-87)Agg>Tgg	p.R29W	KCNJ1_ENST00000440599.2_Missense_Mutation_p.R29W|KCNJ1_ENST00000392664.2_Missense_Mutation_p.R48W|KCNJ1_ENST00000324036.3_Missense_Mutation_p.R29W|KCNJ1_ENST00000392666.1_Missense_Mutation_p.R29W	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	48					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ATGTTGCACCTTCCATCTTTG	0.438000													10	294					0	0	0.058154	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111947854	111947854	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:111947854T>C	ENST00000374566.3	-	23	2850	c.2333A>G	c.(2332-2334)cAc>cGc	p.H778R		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	778						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.H778R(2)		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						ACAGCGAGAGTGGGCACAGTG	0.592000													33	20					0	0	0.059317	0	0
DMXL1	1657	broad.mit.edu	37	5	118525452	118525452	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:118525452G>A	ENST00000311085.8	+	29	7265	c.7185G>A	c.(7183-7185)ccG>ccA	p.P2395P	DMXL1_ENST00000539542.1_Silent_p.P2395P	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2395										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)		GTTTTAGGCCGTCAAAAATGT	0.408000													4	206					0	0	0.009096	0	0
SENP2	59343	broad.mit.edu	37	3	185329518	185329518	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:185329518T>C	ENST00000296257.5	+	8	1042	c.802T>C	c.(802-804)Ttt>Ctt	p.F268L	SENP2_ENST00000545472.1_Missense_Mutation_p.F258L|SENP2_ENST00000427465.2_Missense_Mutation_p.F92L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	268					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	p.F268L(1)		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)			AACAACTCAGTTTGTTCCAAA	0.378000													3	71					0	0	0.004672	0	0
FAM135B	51059	broad.mit.edu	37	8	139164526	139164526	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:139164526C>A	ENST00000395297.1	-	13	2362	c.2192G>T	c.(2191-2193)gGa>gTa	p.G731V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	731								p.G731L(4)		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)			TTCTGTGTGTCCACCCTCTAG	0.557000										HNSCC(54;0.14)			31	57					9.78485e-24	1.30581e-23	0.054565	1	0
TRRAP	8295	broad.mit.edu	37	7	98533224	98533224	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:98533224A>G	ENST00000359863.4	+	28	4246	c.4037A>G	c.(4036-4038)gAa>gGa	p.E1346G	TRRAP_ENST00000355540.3_Missense_Mutation_p.E1346G|TRRAP_ENST00000446306.3_Missense_Mutation_p.E1345G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1346					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.E1346G(4)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGAGGCTGAAGATTCAGCT	0.388000													37	54					0	0	0.027894	0	0
HDAC2	3066	broad.mit.edu	37	6	114277837	114277837	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:114277837G>C	ENST00000519065.1	-	4	680	c.304C>G	c.(304-306)Cca>Gca	p.P102A	HDAC2_ENST00000519108.1_Missense_Mutation_p.P72A|HDAC2_ENST00000398283.2_Missense_Mutation_p.P196A|HDAC2_ENST00000368632.2_Missense_Mutation_p.P72A			Q92769	HDAC2_HUMAN	histone deacetylase 2	102	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.P196A(1)|p.P102A(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	TCAAACACTGGACAATCTTCT	0.363000													7	55					0	0	0.038147	0	0
ZNF391	346157	broad.mit.edu	37	6	27368223	27368223	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:27368223C>G	ENST00000244576.4	+	3	619	c.74C>G	c.(73-75)tCa>tGa	p.S25*		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGCCAATTATCAAGGCAAACA	0.418000													5	175					0	0	0.029380	0	0
DPAGT1	1798	broad.mit.edu	37	11	118971090	118971090	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:118971090C>A	ENST00000409993.2	-	6	2076	c.525G>T	c.(523-525)ctG>ctT	p.L175L	DPAGT1_ENST00000354202.4_Silent_p.L175L|DPAGT1_ENST00000432443.2_Silent_p.L68L			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	175					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	p.L175L(2)		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)		ACACTGCCAGCAGCCCCATGT	0.463000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	195					1.19403e-26	1.61076e-26	0.048971	1	0
VTI1A	143187	broad.mit.edu	37	10	114428028	114428028	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:114428028T>A	ENST00000393077.2	+	6	595	c.479T>A	c.(478-480)aTa>aAa	p.I160K	VTI1A_ENST00000432306.1_Missense_Mutation_p.I160K	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	160					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity	p.I160K(2)	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)		AGAGAAAAGATACAGCGAGCA	0.358000			T	TCF7L2	colorectal								8	36					0	0	0.047766	0	0
LPPR5	163404	broad.mit.edu	37	1	99470209	99470209	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:99470209C>T	ENST00000370188.3	-	1	379	c.19G>A	c.(19-21)Gcg>Acg	p.A7T	LPPR5_ENST00000263177.4_Missense_Mutation_p.A7T|RP5-896L10.1_ENST00000425113.1_RNA	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		7						integral to membrane	hydrolase activity	p.A7T(2)									CTGGTGAGCGCCGCGGGCAGC	0.687000													39	63					0	0	0.039052	0	0
INSRR	3645	broad.mit.edu	37	1	156823768	156823768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:156823768G>T	ENST00000368195.3	-	2	809	c.413C>A	c.(412-414)gCt>gAt	p.A138D	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	138					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	p.A138D(2)		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)					CACACGCACAGCCCCACGCAG	0.632000													28	45					2.44723e-14	3.00269e-14	0.024334	1	0
DDX20	11218	broad.mit.edu	37	1	112308806	112308806	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:112308806A>G	ENST00000475700.1	+	3	2942	c.584A>G	c.(583-585)tAc>tGc	p.Y195C	DDX20_ENST00000369702.4_Missense_Mutation_p.Y587C			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	587	Helicase ATP-binding.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	p.Y587C(2)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCAGCCATACACGTTGACT	0.443000													82	163					0	0	0.048971	0	0
MKI67	4288	broad.mit.edu	37	10	129907466	129907466	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:129907466C>A	ENST00000368654.3	-	13	3013	c.2638G>T	c.(2638-2640)Gag>Tag	p.E880*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.E520*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	880					cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.E880*(2)		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)				TTCCTGAACTCTGTAGACCTT	0.403000													58	180					6.25564e-26	8.42366e-26	0.048971	1	0
CYP1B1	1545	broad.mit.edu	37	2	38297933	38297933	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:38297933G>C	ENST00000260630.3	-	3	1965	c.1564C>G	c.(1564-1566)Ctc>Gtc	p.L522V	CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Missense_Mutation_p.L522V	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	522					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	p.L522V(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GACTCTCTGAGAGTGACATTG	0.408000													54	123					0	0	0.048971	0	0
FAT1	2195	broad.mit.edu	37	4	187541804	187541804	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:187541804A>C	ENST00000441802.2	-	10	6145	c.5936T>G	c.(5935-5937)tTt>tGt	p.F1979C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1979	Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.F1979C(2)|p.F1982C(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCCTGGGTAAACTTTAGGTG	0.453000										HNSCC(5;0.00058)			82	268					0	0	0.048971	0	0
CAPN7	23473	broad.mit.edu	37	3	15288300	15288300	+	Splice_Site	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:15288300G>C	ENST00000253693.2	+	18	2325	c.2073_splice	c.e18+1	p.R691_splice		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	691	Domain III.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity	p.R691P(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TTATCAAAACGGGTGAGAAAA	0.294000													15	34					0	0	0.028581	0	0
PROSER2	254427	broad.mit.edu	37	10	11911910	11911910	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:11911910G>T	ENST00000277570.5	+	4	967	c.813G>T	c.(811-813)ctG>ctT	p.L271L	PROSER2_ENST00000379200.1_Silent_p.L75L|PROSER2-AS1_ENST00000445498.1_RNA|PROSER2-AS1_ENST00000453242.1_RNA	NM_153256.3	NP_694988.3			proline and serine-rich protein 2									p.L271L(1)									GCAGGACCCTGTCCAGGGCGG	0.776000													6	2					0.000442599	0.000460501	0.058154	1	0
ANTXR1	84168	broad.mit.edu	37	2	69304605	69304605	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:69304605A>G	ENST00000303714.4	+	8	949	c.627A>G	c.(625-627)caA>caG	p.Q209Q	ANTXR1_ENST00000409349.3_Silent_p.Q209Q|ANTXR1_ENST00000409829.3_Silent_p.Q209Q	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	209	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.Q209Q(4)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGGCTCTGCAAGGCATCATCC	0.488000									Familial Infantile Hemangioma				28	228					0	0	0.037714	0	0
MYH15	22989	broad.mit.edu	37	3	108189547	108189547	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:108189547C>A	ENST00000273353.3	-	14	1497	c.1441G>T	c.(1441-1443)Gag>Tag	p.E481*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	481	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						ACACTTACCTCAAGGATTTCA	0.418000													6	59					0.0215528	0.021995	0.021553	1	0
SPN	6693	broad.mit.edu	37	16	29675057	29675057	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:29675057C>T	ENST00000360121.3	+	2	100	c.8C>T	c.(7-9)aCg>aTg	p.T3M	AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Missense_Mutation_p.T3M	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	3					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GAAATGGCCACGCTTCTCCTT	0.632000													8	450					0	0	0.047766	0	0
WT1	7490	broad.mit.edu	37	11	32413610	32413610	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:32413610C>A	ENST00000332351.3	-	9	1624	c.1339_splice	c.e9-1	p.G447_splice	WT1_ENST00000448076.3_Splice_Site_p.G447_splice|WT1_ENST00000530998.1_Splice_Site_p.G218_splice|WT1_ENST00000379079.2_Splice_Site_p.G235_splice	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	379					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G379V(4)|p.G235V(2)|p.V380_S410del(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGGTTTCACACCTAAATGGAC	0.532000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				120	219					3.84086e-47	5.48904e-47	0.048971	1	0
TRPV6	55503	broad.mit.edu	37	7	142570163	142570163	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:142570163G>A	ENST00000359396.3	-	14	2102	c.1857C>T	c.(1855-1857)tgC>tgT	p.C619C		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	619					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ACTCCCGTCCGCAGATCCCGG	0.622000													7	58					0	0	0.029380	0	0
WDR16	146845	broad.mit.edu	37	17	9532031	9532031	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:9532031C>G	ENST00000352665.5	+	9	1137	c.1068C>G	c.(1066-1068)atC>atG	p.I356M	WDR16_ENST00000396219.3_Missense_Mutation_p.I288M|WDR16_ENST00000299764.5_Missense_Mutation_p.I366M	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	356						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.I356M(1)		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						AGAAGGATATCAGGGTGTGGC	0.517000													5	87					0	0	0.014758	0	0
THOP1	7064	broad.mit.edu	37	19	2790467	2790467	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:2790467A>G	ENST00000307741.6	+	2	268	c.65A>G	c.(64-66)aAc>aGc	p.N22S		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	22					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	p.N22S(2)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		TCTGTGGTAAACGACCTGCGG	0.607000													59	81					0	0	0.048971	0	0
SCN9A	6335	broad.mit.edu	37	2	167168167	167168167	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:167168167C>G	ENST00000375387.4	-	2	440	c.100G>C	c.(100-102)Gaa>Caa	p.E34Q	SCN9A_ENST00000409435.1_Missense_Mutation_p.E34Q|SCN9A_ENST00000409672.1_Missense_Mutation_p.E34Q|SCN9A_ENST00000303354.6_Missense_Mutation_p.E34Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	34						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E34Q(2)		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)	TCTTTGGGTTCCTTTGATTTT	0.468000													43	181					0	0	0.036044	0	0
ASUN	55726	broad.mit.edu	37	12	27067485	27067485	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:27067485G>C	ENST00000261191.7	-	12	1811	c.1275C>G	c.(1273-1275)aaC>aaG	p.N425K	ASUN_ENST00000539625.1_Missense_Mutation_p.N324K	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	425					cell division|mitosis|regulation of mitotic cell cycle		protein binding										GAGTTAATCTGTTTTCCCTCA	0.338000													13	400					0	0	0.016723	0	0
CYP3A7	1551	broad.mit.edu	37	7	99311132	99311132	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:99311132C>T	ENST00000336374.2	-	9	827	c.825G>A	c.(823-825)atG>atA	p.M275I		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	275					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.M275I(2)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GAGAGTCAATCATCAGCTGAA	0.433000													20	148					0	0	0.069288	0	0
TOP2A	7153	broad.mit.edu	37	17	38545891	38545891	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:38545891C>T	ENST00000423485.1	-	35	4634	c.4476G>A	c.(4474-4476)aaG>aaA	p.K1492K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1492					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CACTCTCCCCCTTGGATTTCT	0.398000													3	38					0	0	0.009096	0	0
METTL18	92342	broad.mit.edu	37	1	169761944	169761944	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:169761944T>C	ENST00000310392.4	-	2	1246	c.893A>G	c.(892-894)aAc>aGc	p.N298S	METTL18_ENST00000303469.2_Missense_Mutation_p.N298S|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	298						cytoplasm	protein methyltransferase activity	p.N298S(2)		kidney(1)|large_intestine(3)|lung(4)	8						ATAATCTGGGTTGTAAATGGT	0.343000													12	55					0	0	0.013537	0	0
ZNF318	24149	broad.mit.edu	37	6	43308638	43308638	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:43308638A>G	ENST00000361428.2	-	9	3462	c.3385T>C	c.(3385-3387)Ttt>Ctt	p.F1129L	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1129					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)			GGAACCAGAAACTCAGAGCCT	0.448000													8	129					0	0	0.038147	0	0
ZBTB40	9923	broad.mit.edu	37	1	22837737	22837737	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:22837737C>A	ENST00000404138.1	+	11	2410	c.1899C>A	c.(1897-1899)gcC>gcA	p.A633A	ZBTB40_ENST00000375647.4_Silent_p.A633A|ZBTB40_ENST00000374651.4_Silent_p.A521A	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	633					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A633A(2)		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)		TGAGCAGAGCCATGGAAAAAT	0.512000													42	235					1.62957e-23	2.17082e-23	0.033182	1	0
CSMD3	114788	broad.mit.edu	37	8	113651001	113651001	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:113651001A>G	ENST00000297405.5	-	21	3694	c.3450T>C	c.(3448-3450)taT>taC	p.Y1150Y	CSMD3_ENST00000455883.2_Silent_p.Y1046Y|CSMD3_ENST00000352409.3_Silent_p.Y1150Y|CSMD3_ENST00000343508.3_Silent_p.Y1110Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1150	CUB 6.					integral to membrane|plasma membrane		p.Y1110Y(2)|p.Y1150Y(2)		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						TGAAATTTCCATAGAGACCAG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	90					0	0	0.037714	0	0
NUGGC	389643	broad.mit.edu	37	8	27891171	27891171	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:27891171A>G	ENST00000413272.2	-	14	1797	c.1655T>C	c.(1654-1656)gTt>gCt	p.V552A	NUGGC_ENST00000341513.6_Missense_Mutation_p.V552A	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.V552A(4)									TTTCAGGCAAACAGCTTTCAG	0.438000													11	116					0	0	0.069234	0	0
HUWE1	10075	broad.mit.edu	37	X	53641577	53641577	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:53641577T>A	ENST00000342160.3	-	22	2636	c.2179A>T	c.(2179-2181)Agt>Tgt	p.S727C	HUWE1_ENST00000262854.6_Missense_Mutation_p.S727C|HUWE1_ENST00000218328.8_Missense_Mutation_p.S727C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	727					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	p.S727C(4)		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						TCATCCTCACTAGAGGCTTCT	0.488000													37	37					0	0	0.025465	0	0
RYR2	6262	broad.mit.edu	37	1	237802406	237802406	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:237802406G>A	ENST00000366574.2	+	46	7337	c.7020G>A	c.(7018-7020)ggG>ggA	p.G2340G	RYR2_ENST00000360064.6_Silent_p.G2338G|RYR2_ENST00000542537.1_Silent_p.G2324G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2340	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	p.G2338G(2)		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)			GAGAAGGTGGGAATGGGCTTC	0.502000													19	46					0	0	0.062417	0	0
PRODH	5625	broad.mit.edu	37	22	18905888	18905888	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:18905888C>T	ENST00000357068.6	-	11	1633	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E	PRODH_ENST00000334029.2_Silent_p.E348E|PRODH_ENST00000420436.1_Silent_p.E348E	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	456				AE -> Q (in Ref. 7; AAC39529).	glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	p.E456E(2)		breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	CATAGCCGATCTCTGCCGCAC	0.667000													23	121					0	0	0.069288	0	0
UFL1	23376	broad.mit.edu	37	6	96999336	96999336	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:96999336T>A	ENST00000369278.4	+	16	1912	c.1846T>A	c.(1846-1848)Tca>Aca	p.S616T		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	616					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										AAGTAAATTATCAGAAGAAAC	0.299000													5	112					0	0	0.014758	0	0
PANK4	55229	broad.mit.edu	37	1	2440356	2440356	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:2440356G>C	ENST00000378466.3	-	19	2264	c.2252C>G	c.(2251-2253)gCg>gGg	p.A751G	PANK4_ENST00000435556.3_Missense_Mutation_p.A712G	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	751					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	p.A751G(1)		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)		GGCCAGCCACGCGTTCTTGAT	0.652000													9	8					0	0	0.010729	0	0
OR7C2	26658	broad.mit.edu	37	19	15052376	15052376	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:15052376C>T	ENST00000248072.3	+	1	76	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L26F(2)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CATGCAGCTTCTCCTCCATGG	0.537000													66	66					0	0	0.048971	0	0
NXPE4	54827	broad.mit.edu	37	11	114453150	114453150	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:114453150G>C	ENST00000375478.3	-	3	870	c.690C>G	c.(688-690)tgC>tgG	p.C230W	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4									p.C230W(2)									CCAGGTACTGGCACAATTCAG	0.478000													23	211					0	0	0.076483	0	0
PNCK	139728	broad.mit.edu	37	X	152938064	152938064	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:152938064C>A	ENST00000393831.2	-	3	591	c.157G>T	c.(157-159)Ggc>Tgc	p.G53C	PNCK_ENST00000340888.3_Missense_Mutation_p.G53C|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000447676.2_Missense_Mutation_p.G136C|PNCK_ENST00000370142.1_Missense_Mutation_p.G53C|PNCK_ENST00000370145.4_Missense_Mutation_p.G70C|PNCK_ENST00000370150.1_Missense_Mutation_p.G53C	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	53	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.G82C(1)|p.G53C(1)|p.G70C(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCCTTGCCCCGGAGGGCC	0.701000													27	96					2.12542e-12	2.55324e-12	0.030593	1	0
HNRNPK	3190	broad.mit.edu	37	9	86592668	86592668	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:86592668T>C	ENST00000376263.3	-	4	315	c.92A>G	c.(91-93)cAa>cGa	p.Q31R	HNRNPK_ENST00000360384.5_Missense_Mutation_p.Q31R|HNRNPK_ENST00000351839.3_Missense_Mutation_p.Q31R|HNRNPK_ENST00000376264.2_Missense_Mutation_p.Q31R|HNRNPK_ENST00000376281.4_Missense_Mutation_p.Q31R	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	31	Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|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|single-stranded DNA binding	p.Q31R(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TTTAAATGCTTGTTCCTCTTC	0.358000													17	63					0	0	0.038395	0	0
MYH4	4622	broad.mit.edu	37	17	10369629	10369629	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:10369629C>T	ENST00000255381.2	-	4	419	c.309G>A	c.(307-309)ctG>ctA	p.L103L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	103	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.L103L(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGAGGTTATACAGCACAGCAG	0.458000													50	73					0	0	0.048971	0	0
GPKOW	27238	broad.mit.edu	37	X	48973451	48973451	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:48973451C>T	ENST00000156109.5	-	6	924	c.846G>A	c.(844-846)gtG>gtA	p.V282V		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	282						nucleus	nucleic acid binding	p.V282V(2)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CACTAACAGTCACCACCCGGC	0.547000													173	705					0	0	0.048971	0	0
THOC2	57187	broad.mit.edu	37	X	122769970	122769970	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:122769970G>C	ENST00000245838.8	-	19	2009	c.1978C>G	c.(1978-1980)Ctt>Gtt	p.L660V	THOC2_ENST00000491737.1_Missense_Mutation_p.L545V|THOC2_ENST00000355725.4_Missense_Mutation_p.L660V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	660					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.L660V(1)|p.L581V(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TACTGAAGAAGACCAGCAAGA	0.333000													7	108					0	0	0.029380	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746613	77746613	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:77746613T>A	ENST00000409088.3	-	3	796	c.382A>T	c.(382-384)Aca>Tca	p.T128S	LRRTM4_ENST00000409093.1_Missense_Mutation_p.T128S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.T129S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.T129S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.T128S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	128						integral to membrane		p.T128S(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGGTGAAATGTTTTATTGTGC	0.378000													25	68					0	0	0.076483	0	0
WFS1	7466	broad.mit.edu	37	4	6303098	6303098	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:6303098G>T	ENST00000226760.1	+	8	1746	c.1576G>T	c.(1576-1578)Ggc>Tgc	p.G526C	WFS1_ENST00000503569.1_Missense_Mutation_p.G526C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	526					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	p.G526F(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GAATTTCAAGGGCACCTACTG	0.602000													24	156					1.22574e-08	1.38967e-08	0.069288	1	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	41					0	0	0.009096	0	0
PAPSS2	9060	broad.mit.edu	37	10	89475536	89475536	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:89475536C>G	ENST00000361175.4	+	7	1170	c.801C>G	c.(799-801)ccC>ccG	p.P267P	PAPSS2_ENST00000427144.2_Silent_p.P271P|PAPSS2_ENST00000456849.1_Silent_p.P267P	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	267					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	p.P267P(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GGGCCACTCCCCTCAAAGGTT	0.438000													8	45					0	0	0.038147	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293630	71293630	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:71293630G>A	ENST00000398530.1	-	1	291	c.254C>T	c.(253-255)tCc>tTc	p.S85F	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	85	6 X 4 AA repeats of C-C-X-P.					keratin filament		p.S85F(2)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACAGCAGTTGGACTGGGAGCA	0.622000													40	106					0	0	0.080422	0	0
RGS5	8490	broad.mit.edu	37	1	163172591	163172591	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:163172591C>A	ENST00000313961.5	-	1	312	c.35G>T	c.(34-36)tGc>tTc	p.C12F	RGS5_ENST00000527988.1_5'UTR|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000530507.1_Missense_Mutation_p.C12F|RGS5_ENST00000367903.3_Intron|RGS5_ENST00000534288.1_Intron	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	12					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.C12F(2)|p.C12Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CCTTTCCAGGCATGAGTGGGG	0.448000													16	44					6.49762e-13	7.86887e-13	0.038395	1	0
LRIF1	55791	broad.mit.edu	37	1	111494316	111494316	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:111494316T>C	ENST00000369763.4	-	2	1580	c.1190A>G	c.(1189-1191)cAg>cGg	p.Q397R	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.Q397R(2)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ACTCACTGTCTGTAACGTGTC	0.393000													69	367					0	0	0.048971	0	0
OR1M1	125963	broad.mit.edu	37	19	9203967	9203967	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:9203967G>T	ENST00000429566.3	+	1	113	c.47G>T	c.(46-48)gGa>gTa	p.G16V		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16V(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATCCTCCTGGGACTCTCAGAA	0.507000													27	33					1.2476e-16	1.58015e-16	0.030593	1	0
WDR96	80217	broad.mit.edu	37	10	105903388	105903388	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:105903388T>G	ENST00000357060.3	-	32	4069	c.3954A>C	c.(3952-3954)aaA>aaC	p.K1318N	WDR96_ENST00000428666.1_Missense_Mutation_p.K1290N	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1318								p.K1318N(2)		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						GCGTTTTCTGTTTGGAAATCC	0.413000													13	43					0	0	0.013537	0	0
GPKOW	27238	broad.mit.edu	37	X	48973405	48973405	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:48973405C>T	ENST00000156109.5	-	6	970	c.892G>A	c.(892-894)Gac>Aac	p.D298N		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	298						nucleus	nucleic acid binding	p.D298N(2)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						GTGTTCTTGTCAAACTCCTGC	0.567000													110	584					0	0	0.048971	0	0
PPY	5539	broad.mit.edu	37	17	42018943	42018943	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:42018943G>A	ENST00000591228.1	-	2	167	c.80C>T	c.(79-81)gCc>gTc	p.A27V	PPY_ENST00000225992.3_Missense_Mutation_p.A27V|PPY_ENST00000587006.1_Missense_Mutation_p.A27V			P01298	PAHO_HUMAN	pancreatic polypeptide	27					digestion|protein secretion	extracellular region	hormone activity	p.A27V(1)		large_intestine(2)|lung(1)|skin(1)	4		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGCTCCCTGGGCACCCAGCAG	0.612000													13	69					0	0	0.020292	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035851	110035851	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:110035851C>T	ENST00000453089.2	+	5	2829	c.1948C>T	c.(1948-1950)Cac>Tac	p.H650Y	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.H682Y|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.H681Y			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	681							endonuclease activity|nucleic acid binding|zinc ion binding	p.H681Y(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCAGAATTTCCACGACCCCTT	0.547000													71	485					0	0	0.048971	0	0
KIAA1109	84162	broad.mit.edu	37	4	123165092	123165092	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:123165092C>T	ENST00000264501.4	+	31	5199	c.4826C>T	c.(4825-4827)cCa>cTa	p.P1609L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1609L|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1609L			Q2LD37	K1109_HUMAN	KIAA1109	1609					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.P1609L(2)		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						CTGGATCAACCAGTGTCCCAG	0.408000													14	91					0	0	0.016723	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767721	77767721	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:77767721C>A	ENST00000521891.2	+	10	9012	c.8564C>A	c.(8563-8565)cCt>cAt	p.P2855H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2829H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2810H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2810H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2810						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P2839H(2)		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)			GCAACCACACCTACCACGGAG	0.473000										HNSCC(33;0.089)			26	54					3.08376e-08	3.46459e-08	0.018920	1	0
SLC1A2	6506	broad.mit.edu	37	11	35333830	35333830	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:35333830T>C	ENST00000278379.3	-	4	758	c.476A>G	c.(475-477)aAt>aGt	p.N159S	SLC1A2_ENST00000395753.1_Missense_Mutation_p.N150S|SLC1A2_ENST00000395750.1_Missense_Mutation_p.N150S|SLC1A2_ENST00000606205.1_Missense_Mutation_p.N159S	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	159					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.N159S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CACTTCATCATTCTTCTTCCC	0.512000													48	401					0	0	0.048971	0	0
MED1	5469	broad.mit.edu	37	17	37565297	37565297	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:37565297G>C	ENST00000300651.6	-	17	3400	c.3177C>G	c.(3175-3177)ccC>ccG	p.P1059P	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1059	Interaction with ESR1.				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	p.P1059P(2)		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)		TTTTGGGAATGGGTGGTGTGG	0.507000										HNSCC(31;0.082)			307	187					0	0	0.048971	0	0
COX7A2L	9167	broad.mit.edu	37	2	42578436	42578436	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:42578436T>A	ENST00000378669.1	-	4	1097	c.268A>T	c.(268-270)Acc>Tcc	p.T90S	COX7A2L_ENST00000234301.2_Missense_Mutation_p.T90S|COX7A2L_ENST00000482463.1_5'UTR			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	90					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	p.T90S(2)		lung(4)	4						AGCGCCATGGTGGTCCGGTAA	0.522000													28	53					0	0	0.034045	0	0
DPP4	1803	broad.mit.edu	37	2	162868405	162868405	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:162868405C>G	ENST00000360534.3	-	20	2290	c.1730G>C	c.(1729-1731)aGc>aCc	p.S577T	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	577					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	p.S577T(1)		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)	GCCATCAAAGCTAGCTACTAT	0.428000													11	223					0	0	0.010729	0	0
EML4	27436	broad.mit.edu	37	2	42530318	42530318	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:42530318A>G	ENST00000318522.5	+	15	1978	c.1716A>G	c.(1714-1716)cgA>cgG	p.R572R	EML4_ENST00000453191.2_5'UTR|EML4_ENST00000402711.2_Silent_p.R514R|EML4_ENST00000401738.3_Silent_p.R583R	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	572					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.R572R(2)	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						GCACATCACGAAACTTTATTT	0.348000			T	ALK	NSCLC								28	165					0	0	0.034045	0	0
MAN2B1	4125	broad.mit.edu	37	19	12758269	12758269	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:12758269G>C	ENST00000597692.1	-	2	366	c.367C>G	c.(367-369)Ctt>Gtt	p.L123V	MAN2B1_ENST00000221363.4_Silent_p.T935T|MAN2B1_ENST00000456935.2_Silent_p.T936T																							TCAAGTTCAAGGTAACGGGGG	0.577000													8	169					0	0	0.047766	0	0
SYAP1	94056	broad.mit.edu	37	X	16773137	16773137	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:16773137C>T	ENST00000380155.3	+	6	738	c.645C>T	c.(643-645)ctC>ctT	p.L215L		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	215								p.L215L(2)		endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					CAGCCCAGCTCACGGCCCTGG	0.512000													45	41					0	0	0.048971	0	0
ENPEP	2028	broad.mit.edu	37	4	111436540	111436540	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:111436540C>T	ENST00000265162.5	+	8	1793	c.1451C>T	c.(1450-1452)tCt>tTt	p.S484F	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	484					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.S484F(2)		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)	TAGGGATCTTCTATTTTGAGA	0.299000													20	53					0	0	0.030593	0	0
TTC21A	199223	broad.mit.edu	37	3	39178787	39178787	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:39178787G>T	ENST00000301819.6	+	25	3560	c.3383G>T	c.(3382-3384)cGg>cTg	p.R1128L	TTC21A_ENST00000440121.1_Missense_Mutation_p.R1079L|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Missense_Mutation_p.R1127L	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1127							binding	p.R1128L(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACCCAGCTGCGGCTGCTGCAG	0.612000													22	22					6.38683e-12	7.61114e-12	0.037714	1	0
NRXN3	9369	broad.mit.edu	37	14	80328143	80328143	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:80328143T>C	ENST00000281127.7	+	6	2014	c.1135T>C	c.(1135-1137)Tac>Cac	p.Y379H	NRXN3_ENST00000557594.1_Missense_Mutation_p.Y584H|NRXN3_ENST00000335750.5_Missense_Mutation_p.Y1008H|NRXN3_ENST00000554719.1_Missense_Mutation_p.Y1008H|NRXN3_ENST00000428277.2_Missense_Mutation_p.Y406H|NRXN3_ENST00000556003.1_3'UTR	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	584					angiogenesis|cell adhesion	integral to membrane		p.Y1008H(2)|p.Y406H(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTACGCCATGTACAAGTACAG	0.587000													19	56					0	0	0.038395	0	0
LRRCC1	85444	broad.mit.edu	37	8	86042277	86042277	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:86042277A>G	ENST00000414626.2	+	10	2579	c.1690A>G	c.(1690-1692)Aaa>Gaa	p.K564E	LRRCC1_ENST00000360375.3_Missense_Mutation_p.K584E			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	584					cell division|mitosis	centriole|nucleus		p.K564E(2)|p.K584E(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TCTTGCATTGAAAGAACAGGA	0.358000													17	101					0	0	0.043863	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457293	110457293	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:110457293C>A	ENST00000378402.5	+	38	5299	c.5195C>A	c.(5194-5196)cCt>cAt	p.P1732H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1732	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P1734H(2)		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)			CATGGAGTGCCTGCCCAGTGC	0.433000										HNSCC(38;0.096)			150	210					8.82723e-70	1.28115e-69	0.048971	1	0
BAI3	577	broad.mit.edu	37	6	70071247	70071247	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:70071247T>A	ENST00000370598.1	+	29	4903	c.4082T>A	c.(4081-4083)aTg>aAg	p.M1361K	BAI3_ENST00000546190.1_Missense_Mutation_p.M325K|BAI3_ENST00000238918.8_Missense_Mutation_p.M567K	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1361					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.M1361K(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAGTTCAATATGAACTTAGAG	0.433000													33	141					0	0	0.059317	0	0
IL10RA	3587	broad.mit.edu	37	11	117870171	117870171	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:117870171C>A	ENST00000227752.3	+	7	1672	c.1552C>A	c.(1552-1554)Cag>Aag	p.Q518K	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Missense_Mutation_p.Q369K|IL10RA_ENST00000541785.1_Missense_Mutation_p.Q498K	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	518						integral to membrane|plasma membrane	interleukin-10 receptor activity	p.Q518K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ACAGTGGAACCAGCCCACTGA	0.577000													59	69					2.47907e-22	3.27905e-22	0.048971	1	0
NEO1	4756	broad.mit.edu	37	15	73528761	73528761	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:73528761C>G	ENST00000339362.5	+	9	1812	c.1365C>G	c.(1363-1365)atC>atG	p.I455M	NEO1_ENST00000261908.6_Missense_Mutation_p.I455M|NEO1_ENST00000558964.1_Missense_Mutation_p.I455M|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000560262.1_Missense_Mutation_p.I455M			Q92859	NEO1_HUMAN	neogenin 1	455	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		p.I455M(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCCGCTTCATCAAATTGACGT	0.552000													55	188					0	0	0.048971	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213445953	213445953	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:213445953G>C	ENST00000366960.3	+	15	3327	c.3177G>C	c.(3175-3177)gtG>gtC	p.V1059V	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Silent_p.V847V|RPS6KC1_ENST00000366959.3_Silent_p.V1047V	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	1059					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	p.V1059V(1)		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)		TTACCCCTGTGGATTGGGCAG	0.458000													9	126					0	0	0.058154	0	0
CACNA2D1	781	broad.mit.edu	37	7	81746386	81746386	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:81746386T>A	ENST00000356860.3	-	6	838	c.500A>T	c.(499-501)cAt>cTt	p.H167L	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.H167L|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.H167L	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	167						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)	AGTAGGAATATGGACTGCTGC	0.423000													6	201					0	0	0.021553	0	0
OCA2	4948	broad.mit.edu	37	15	28116363	28116363	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:28116363C>G	ENST00000354638.3	-	21	2336	c.2181G>C	c.(2179-2181)ctG>ctC	p.L727L	OCA2_ENST00000353809.5_Silent_p.L703L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	727					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)		CCCACACCACCAGGACAATGG	0.562000									Oculocutaneous Albinism				5	89					0	0	0.029380	0	0
FASTKD2	22868	broad.mit.edu	37	2	207635937	207635937	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:207635937G>C	ENST00000236980.6	+	4	1261	c.913G>C	c.(913-915)Gaa>Caa	p.E305Q	FASTKD2_ENST00000403094.3_Missense_Mutation_p.E305Q|FASTKD2_ENST00000402774.3_Missense_Mutation_p.E305Q	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	305					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.E305Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TTGGAAAATAGAAGATGTCTT	0.308000													16	43					0	0	0.033300	0	0
LAMB4	22798	broad.mit.edu	37	7	107743504	107743504	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:107743504G>A	ENST00000388781.3	-	10	1248	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S	LAMB4_ENST00000414450.2_Missense_Mutation_p.P389S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P389S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P389S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	389	Laminin EGF-like 2.				cell adhesion	basement membrane		p.P389S(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACGCGTAGGGATCTGAGATG	0.597000													35	45					0	0	0.069456	0	0
DYTN	391475	broad.mit.edu	37	2	207527696	207527696	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:207527696G>T	ENST00000452335.2	-	11	1680	c.1564C>A	c.(1564-1566)Ctg>Atg	p.L522M		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	522						plasma membrane	zinc ion binding	p.L522M(4)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCTTCCTCCAGCTCATCCTTT	0.463000													115	221					3.45881e-44	4.91481e-44	0.048971	1	0
ATRN	8455	broad.mit.edu	37	20	3529820	3529820	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:3529820C>A	ENST00000262919.5	+	6	1015	c.947C>A	c.(946-948)cCt>cAt	p.P316H	ATRN_ENST00000446916.2_Missense_Mutation_p.P316H	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	316					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.P316H(2)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTATTAGGTCCTGGATGTTCA	0.333000													62	119					1.80625e-27	2.44106e-27	0.048971	1	0
SLC35E3	55508	broad.mit.edu	37	12	69140237	69140237	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:69140237G>T	ENST00000398004.2	+	1	352	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	27						integral to membrane		p.C27F(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			GTGTCCATCTGCATTGTGTTC	0.592000													25	56					3.28513e-13	3.99138e-13	0.021523	1	0
ZNF578	147660	broad.mit.edu	37	19	53014551	53014551	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:53014551G>A	ENST00000421239.2	+	6	1161	c.917G>A	c.(916-918)cGt>cAt	p.R306H	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ACATGCCATCGTAGATGTCAC	0.433000													4	128					0	0	0.014758	0	0
KCNA2	3737	broad.mit.edu	37	1	111147346	111147346	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:111147346T>C	ENST00000485317.1	-	3	732	c.59A>G	c.(58-60)cAg>cGg	p.Q20R	KCNA2_ENST00000440270.1_Missense_Mutation_p.Q20R|KCNA2_ENST00000369770.3_Missense_Mutation_p.Q20R|KCNA2_ENST00000316361.4_Missense_Mutation_p.Q20R|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	20						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.Q20R(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		ATAGGTGTCCTGTGGGTGCCC	0.587000													108	242					0	0	0.048971	0	0
DHX37	57647	broad.mit.edu	37	12	125435313	125435313	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:125435313C>A	ENST00000308736.2	-	22	3004	c.2906G>T	c.(2905-2907)aGc>aTc	p.S969I	DHX37_ENST00000544745.1_Missense_Mutation_p.S756I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	969							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.S969I(2)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AAGGACGGAGCTGGGGTGGAT	0.567000													158	120					1.08359e-82	1.57882e-82	0.048971	1	0
SI	6476	broad.mit.edu	37	3	164712076	164712076	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:164712076C>T	ENST00000264382.3	-	41	4872	c.4810G>A	c.(4810-4812)Ggt>Agt	p.G1604S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1604	Sucrase.				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	p.G1604S(2)		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)	ACAGTGCCACCATTAGCATGA	0.338000										HNSCC(35;0.089)			16	77					0	0	0.028581	0	0
PIGR	5284	broad.mit.edu	37	1	207112588	207112588	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:207112588C>A	ENST00000356495.4	-	3	447	c.264G>T	c.(262-264)ccG>ccT	p.P88P		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	88	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding	p.P88P(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGCCGTTCTCCGGGAAGTTGG	0.592000													16	91					1.3612e-06	1.48459e-06	0.024245	1	0
SLC34A2	10568	broad.mit.edu	37	4	25677973	25677973	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:25677973G>T	ENST00000382051.3	+	13	1725	c.1675G>T	c.(1675-1677)Ggg>Tgg	p.G559W	SLC34A2_ENST00000504570.1_Missense_Mutation_p.G558W|SLC34A2_ENST00000503434.1_Missense_Mutation_p.G558W	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	559					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.G559W(2)	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)				GGTTGGTGTCGGGGTTCCCGT	0.597000			T	ROS1	NSCLC								30	126					1.61788e-16	2.03875e-16	0.050027	1	0
C2orf48	348738	broad.mit.edu	37	2	10350487	10350487	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:10350487G>A	ENST00000381786.3	+	4	533	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	82								p.A82T(2)		endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		GAGAAGCCCAGCCCTCATTGT	0.522000													57	99					0	0	0.048971	0	0
ANO4	121601	broad.mit.edu	37	12	101295492	101295492	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:101295492C>T	ENST00000538618.1	+	4	427	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						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						TGTGGCAAGCCGCCCAGCGTC	0.498000										HNSCC(74;0.22)			32	85					0	0	0.045705	0	0
COL15A1	1306	broad.mit.edu	37	9	101818644	101818644	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:101818644G>T	ENST00000375001.3	+	35	3718	c.3295G>T	c.(3295-3297)Ggg>Tgg	p.G1099W		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1099	Triple-helical region 8 (COL8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G1099W(2)		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)				TGGGCCACCGGGGCCCCCGGG	0.622000													58	48					5.82218e-30	7.92581e-30	0.048971	1	0
PDCD11	22984	broad.mit.edu	37	10	105194078	105194078	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:105194078C>G	ENST00000369797.3	+	24	3732	c.3638C>G	c.(3637-3639)tCc>tGc	p.S1213C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1213	S1 motif 10.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	p.S1213C(1)		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)		CCAGATTCCTCCAAGACCCTC	0.552000													9	211					0	0	0.058154	0	0
HEATR5B	54497	broad.mit.edu	37	2	37302747	37302747	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:37302747G>A	ENST00000233099.5	-	5	573	c.478C>T	c.(478-480)Cta>Tta	p.L160L	HEATR5B_ENST00000354531.2_Silent_p.L160L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	160							binding	p.L160L(2)		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)				ACTTTCTGTAGACTCATTAAG	0.388000													48	173					0	0	0.048971	0	0
NARS2	79731	broad.mit.edu	37	11	78204159	78204159	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:78204159T>C	ENST00000281038.5	-	7	1147	c.772A>G	c.(772-774)Atg>Gtg	p.M258V	NARS2_ENST00000528850.1_Missense_Mutation_p.M31V	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	258					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	p.M258V(2)		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)	GCTTCTATCATATAAAACTCT	0.393000													57	84					0	0	0.048971	0	0
OPCML	4978	broad.mit.edu	37	11	132307138	132307138	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:132307138C>T	ENST00000331898.7	-	4	1220	c.642G>A	c.(640-642)cgG>cgA	p.R214R	OPCML_ENST00000524381.1_Silent_p.R207R|OPCML_ENST00000374778.4_Silent_p.R173R|OPCML_ENST00000541867.1_Silent_p.R214R|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	214	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TTTTTACTTTCCGCACATCGG	0.542000													6	279					0	0	0.029380	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89084383	89084383	+	RNA	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:89084383A>T	ENST00000393525.3	+	0	751																											CGAATAaatcagcgggggact	0.428000													3	7					0	0	0.004672	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703714	103703714	+	Missense_Mutation	SNP	G	G	T	rs140050923		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:103703714G>T	ENST00000245312.3	-	4	1250	c.654C>A	c.(652-654)agC>agA	p.S218R		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	218					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.S218R(2)		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)					TGATCCAGGCGCTTTGGTACA	0.478000													61	63					7.55815e-43	1.0699e-42	0.048971	1	0
HMGCS1	3157	broad.mit.edu	37	5	43297159	43297159	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:43297159T>C	ENST00000325110.6	-	5	890	c.684A>G	c.(682-684)gcA>gcG	p.A228A	HMGCS1_ENST00000433297.2_Silent_p.A228A	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	228					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	p.A228A(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						AGCGGTCTAATGCACTGAGGT	0.413000													65	174					0	0	0.048971	0	0
KIAA2022	340533	broad.mit.edu	37	X	73964291	73964291	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:73964291G>C	ENST00000373468.1	-	3	752	c.101C>G	c.(100-102)gCa>gGa	p.A34G	KIAA2022_ENST00000055682.5_Missense_Mutation_p.A34G			Q5QGS0	K2022_HUMAN	KIAA2022	34					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.A34G(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGACTTCATTGCCACATCCTG	0.453000													6	12					0	0	0.021553	0	0
CCRL2	9034	broad.mit.edu	37	3	46450373	46450373	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:46450373C>G	ENST00000399036.3	+	2	1155	c.803C>G	c.(802-804)tCc>tGc	p.S268C	ACKR5_ENST00000400880.3_Missense_Mutation_p.S268C|ACKR5_ENST00000357392.4_Missense_Mutation_p.S280C|ACKR5_ENST00000400882.2_Missense_Mutation_p.S268C	NM_003965.4	NP_003956.2																					GAACACTTCTCCCTGAGTGAC	0.463000													11	587					0	0	0.069234	0	0
CDHR1	92211	broad.mit.edu	37	10	85968522	85968522	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:85968522C>T	ENST00000372117.3	+	12	1308	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	CDHR1_ENST00000332904.3_Missense_Mutation_p.P402L|CDHR1_ENST00000440770.2_Missense_Mutation_p.P161L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	402	Cadherin 4.				homophilic cell adhesion		calcium ion binding|receptor activity	p.P402L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGGTGGGACCCAGGGGCATC	0.443000													6	44					0	0	0.029380	0	0
EIF3H	8667	broad.mit.edu	37	8	117658741	117658741	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:117658741C>A	ENST00000521861.1	-	7	953	c.930G>T	c.(928-930)ccG>ccT	p.P310P	EIF3H_ENST00000276682.4_Silent_p.P324P	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	310					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.P310P(2)		large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					TCCTGGCAGGCGGCTGTGGTG	0.552000													86	308					1.14225e-51	1.64501e-51	0.048971	1	0
SALL3	27164	broad.mit.edu	37	18	76753743	76753743	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:76753743A>G	ENST00000536229.3	+	1	2062	c.1353A>G	c.(1351-1353)ccA>ccG	p.P451P	SALL3_ENST00000537592.2_Silent_p.P584P|SALL3_ENST00000575389.2_Silent_p.P584P			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P584P(1)		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)		CCGAGTCCCCACAGTCGCTCC	0.746000													5	2					0	0	0.013537	0	0
ACSM1	116285	broad.mit.edu	37	16	20636757	20636757	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:20636757C>A	ENST00000219151.4	-	12	1678	c.468G>T	c.(466-468)ccG>ccT	p.P156P	ACSM1_ENST00000520010.1_Silent_p.P505P|ACSM1_ENST00000307493.4_Silent_p.P505P			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	505					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	p.P505P(2)|p.P156P(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCCCTCGAATCGGGTCTGGGC	0.602000													25	52					1.12875e-08	1.28166e-08	0.030593	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54925558	54925558	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:54925558C>G	ENST00000293373.6	+	25	2809	c.2730C>G	c.(2728-2730)atC>atG	p.I910M	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I860M	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	910					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	p.I910M(2)		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						GCATGACCATCATTGGGGTTA	0.488000													31	90					0	0	0.059317	0	0
ETNK1	55500	broad.mit.edu	37	12	22824222	22824222	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:22824222T>C	ENST00000266517.4	+	5	1073	c.984T>C	c.(982-984)atT>atC	p.I328I		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	328					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TACAGTTCATTGATTATGAAT	0.299000													8	701					0	0	0.058154	0	0
DLG2	1740	broad.mit.edu	37	11	83173087	83173087	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:83173087G>C	ENST00000398309.2	-	22	2934	c.2464C>G	c.(2464-2466)Cga>Gga	p.R822G	DLG2_ENST00000543673.1_Missense_Mutation_p.R927G|DLG2_ENST00000524982.1_Missense_Mutation_p.R818G|DLG2_ENST00000376104.2_Missense_Mutation_p.R927G|DLG2_ENST00000537455.1_Missense_Mutation_p.R572G|DLG2_ENST00000330014.6_Missense_Mutation_p.R743G|DLG2_ENST00000404783.3_Missense_Mutation_p.R300G|DLG2_ENST00000418306.2_Missense_Mutation_p.R701G|DLG2_ENST00000426717.2_Missense_Mutation_p.R286G|DLG2_ENST00000532653.1_Missense_Mutation_p.R804G|DLG2_ENST00000280241.8_Missense_Mutation_p.R861G|DLG2_ENST00000531015.1_Missense_Mutation_p.R789G|DLG2_ENST00000376106.3_Missense_Mutation_p.R286G	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	822	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.R927G(2)|p.R861G(2)|p.R701G(2)|p.R822G(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTAATTGCTCGATCATAGGTT	0.378000													16	91					0	0	0.038395	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5969418	5969418	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:5969418G>T	ENST00000284898.6	-	18	1815	c.1615C>A	c.(1615-1617)Caa>Aaa	p.Q539K	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.Q530K|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.Q539K|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.Q343K	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	539					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q539K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CGTGCCACTTGGCTGGCCCGG	0.637000													11	84					4.68919e-08	5.24458e-08	0.069234	1	0
DCHS1	8642	broad.mit.edu	37	11	6661983	6661983	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:6661983C>A	ENST00000299441.3	-	2	1273	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	288	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G288W(2)		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)		GTCACAGCCCCATTGACACCA	0.592000													47	127					2.77807e-22	3.66804e-22	0.045515	1	0
MS4A5	64232	broad.mit.edu	37	11	60198329	60198329	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:60198329T>A	ENST00000300190.2	+	2	300	c.214T>A	c.(214-216)Ttg>Atg	p.L72M	MS4A5_ENST00000534071.1_Intron	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	72						integral to membrane	receptor activity	p.L72M(1)		large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						CCTTTTCACCTTGTTAAAACC	0.368000													64	185					0	0	0.048971	0	0
WDR35	57539	broad.mit.edu	37	2	20153619	20153619	+	Missense_Mutation	SNP	C	C	A	rs146380332		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:20153619C>A	ENST00000345530.3	-	13	1524	c.1409G>T	c.(1408-1410)cGg>cTg	p.R470L	WDR35_ENST00000416055.2_Missense_Mutation_p.R35L|WDR35_ENST00000281405.4_Missense_Mutation_p.R459L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	470								p.R470L(2)|p.R470Q(1)		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)					TTTTCGAGACCGTGTGATCTG	0.378000													35	203					2.68265e-12	3.21746e-12	0.054565	1	0
USH2A	7399	broad.mit.edu	37	1	216052133	216052133	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:216052133G>C	ENST00000366943.2	-	42	8917	c.8531C>G	c.(8530-8532)cCa>cGa	p.P2844R	USH2A_ENST00000307340.3_Missense_Mutation_p.P2844R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2844	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P2844R(2)		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)		TGGCTTGGATGGTGGTTGCCA	0.433000										HNSCC(13;0.011)			23	59					0	0	0.076483	0	0
ATP1B4	23439	broad.mit.edu	37	X	119504691	119504691	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:119504691G>T	ENST00000218008.3	+	3	507	c.450G>T	c.(448-450)aaG>aaT	p.K150N	ATP1B4_ENST00000539306.1_Intron|ATP1B4_ENST00000361319.3_Missense_Mutation_p.K146N	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	150					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.K146N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AGCGGGTAAAGCCTCCTGGTG	0.493000													393	121					4.01476e-195	5.87258e-195	0.048971	1	0
ILDR1	286676	broad.mit.edu	37	3	121712504	121712504	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:121712504C>A	ENST00000273691.3	-	6	1065	c.960G>T	c.(958-960)ctG>ctT	p.L320L	ILDR1_ENST00000393631.1_Silent_p.L275L|ILDR1_ENST00000462014.1_Silent_p.L332L|ILDR1_ENST00000344209.5_Silent_p.L364L|ILDR1_ENST00000460554.1_5'UTR	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	364						cytosol|integral to membrane|plasma membrane	receptor activity	p.L320L(2)|p.L364L(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCCCCTCCCTCAGATCCCAGG	0.597000													16	76					2.32078e-09	2.66765e-09	0.024245	1	0
GPR115	221393	broad.mit.edu	37	6	47682493	47682493	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:47682493C>T	ENST00000283303.2	+	6	1770	c.1512C>T	c.(1510-1512)gtC>gtT	p.V504V	GPR115_ENST00000327753.3_Silent_p.V504V|GPR115_ENST00000371220.1_Silent_p.V561V	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	504					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V504V(2)		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						GAATATTGGTCATTTTCCGTA	0.423000													23	452					0	0	0.069288	0	0
GCAT	23464	broad.mit.edu	37	22	38212280	38212280	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:38212280G>T	ENST00000323205.6	+	8	1201	c.1138G>T	c.(1138-1140)Ggt>Tgt	p.G380C	GCAT_ENST00000248924.6_Missense_Mutation_p.G354C	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	354					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.G354C(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGTGATGCTGGGTGATGCCCG	0.577000													18	115					1.67942e-08	1.89538e-08	0.038395	1	0
CRY1	1407	broad.mit.edu	37	12	107393851	107393851	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:107393851C>T	ENST00000008527.5	-	6	1561	c.694G>A	c.(694-696)Gca>Aca	p.A232T		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	232	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCAAAATTTGCCACCCAAGCC	0.348000													4	82					0	0	0.009096	0	0
TBX18	9096	broad.mit.edu	37	6	85446428	85446428	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:85446428G>C	ENST00000369663.5	-	8	2136	c.1799C>G	c.(1798-1800)tCt>tGt	p.S600C	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	600					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S600C(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGATACTTGAGATGATGACAG	0.413000													35	58					0	0	0.054565	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													5	142					0	0	0.014758	0	0
UNC13C	440279	broad.mit.edu	37	15	54306827	54306827	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:54306827G>T	ENST00000545554.1	+	1	1727	c.1727G>T	c.(1726-1728)aGc>aTc	p.S576I	UNC13C_ENST00000537900.1_Missense_Mutation_p.S576I|UNC13C_ENST00000260323.11_Missense_Mutation_p.S576I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	576					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S576I(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTAATGGAAGCTCTCTCCTG	0.433000													13	51					2.61681e-11	3.08396e-11	0.020292	1	0
SAT1	6303	broad.mit.edu	37	X	23801932	23801932	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:23801932G>A	ENST00000379270.4	+	3	313	c.134G>A	c.(133-135)gGt>gAt	p.G45D	SAT1_ENST00000379251.3_Missense_Mutation_p.G75D|SAT1_ENST00000379253.3_Missense_Mutation_p.G45D|SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379254.1_Intron	NM_002970.2	NP_002961.1	P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	45	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding	p.G75D(2)|p.G45D(2)		breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	CTAGAAGATGGTTTTGGAGAG	0.587000													34	27					0	0	0.050027	0	0
ROBO2	6092	broad.mit.edu	37	3	77600017	77600017	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:77600017G>T	ENST00000461745.1	+	8	2008	c.1108G>T	c.(1108-1110)Gtg>Ttg	p.V370L	ROBO2_ENST00000332191.8_Missense_Mutation_p.V370L|ROBO2_ENST00000487694.3_Missense_Mutation_p.V386L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	370	Ig-like C2-type 4.				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.V386L(2)|p.V370L(2)		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)		TAGATGCTCAGTGTCACCAAC	0.443000													48	62					4.85424e-44	6.88453e-44	0.048971	1	0
ZSCAN20	7579	broad.mit.edu	37	1	33954745	33954745	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:33954745C>T	ENST00000361328.3	+	4	788	c.635C>T	c.(634-636)cCa>cTa	p.P212L	ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Intron	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	212					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P212L(2)		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)				CCTACTCTCCCAAAGATGGGG	0.517000													16	54					0	0	0.049695	0	0
POU2F3	25833	broad.mit.edu	37	11	120175882	120175882	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:120175882G>A	ENST00000260264.4	+	7	628	c.594G>A	c.(592-594)aaG>aaA	p.K198K	POU2F3_ENST00000543440.2_Silent_p.K196K	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	196	POU-specific.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	p.K196K(2)		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)		AGTTTGCCAAGACCTTCAAGC	0.567000													30	233					0	0	0.037714	0	0
SNHG14	104472715	broad.mit.edu	37	15	25326358	25326358	+	RNA	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:25326358G>T	ENST00000546682.1	+	0	58				SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GAGGCTGTTGGGATCCTCCTG	0.493000													18	16					7.07596e-05	7.47686e-05	0.038395	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683294	84683294	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:84683294G>T	ENST00000286744.5	+	24	4198	c.3973_splice	c.e24-1	p.G1325_splice	ADAMTSL3_ENST00000567476.1_Splice_Site_p.G1325_splice	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1325	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.?(2)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTTCCAAAGGTGTCCCTCAG	0.418000													33	137					3.11337e-16	3.89694e-16	0.054565	1	0
IL16	3603	broad.mit.edu	37	15	81591951	81591951	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:81591951G>A	ENST00000394660.2	+	14	2644	c.2284G>A	c.(2284-2286)Gac>Aac	p.D762N	IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Missense_Mutation_p.D61N|IL16_ENST00000302987.4_Missense_Mutation_p.D762N	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	762					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.D762N(2)|p.D716N(2)		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						ACCAAAGCTGGACACCGCCAA	0.562000													18	98					0	0	0.043863	0	0
CR1L	1379	broad.mit.edu	37	1	207867885	207867885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:207867885G>A	ENST00000508064.2	+	5	711	c.651G>A	c.(649-651)tgG>tgA	p.W217*	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	217	Sushi 3.					cytoplasm|extracellular region|membrane		p.W217*(2)|p.W225*(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGGCATCTGGAGTGGCCCAG	0.463000													67	409					0	0	0.048971	0	0
SIM1	6492	broad.mit.edu	37	6	100897259	100897259	+	Missense_Mutation	SNP	G	G	A	rs438766		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:100897259G>A	ENST00000369208.3	-	6	1305	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F	SIM1_ENST00000262901.4_Missense_Mutation_p.L175F			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	175			L -> F (in dbSNP:rs438766).		cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCACAGGTGAGGCCGGCGTTA	0.622000													4	57					0	0	0.014758	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21011691	21011691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:21011691G>T	ENST00000495827.1	-	5	432	c.387C>A	c.(385-387)taC>taA	p.Y129*	PTPLAD2_ENST00000513293.2_Nonsense_Mutation_p.Y129*	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	129					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	p.Y129*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TGCTATAAGTGTACCTGAAAG	0.368000													10	30					0.00829132	0.00850801	0.069234	1	0
KLF10	7071	broad.mit.edu	37	8	103664623	103664623	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:103664623C>G	ENST00000395884.3	-	2	908	c.6G>C	c.(4-6)gaG>gaC	p.E2D	KLF10_ENST00000285407.6_Missense_Mutation_p.E13D	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	13					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	p.E13D(1)		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)			CCATTCTTTCCTCCTATAAAA	0.303000													7	173					0	0	0.029380	0	0
CACNA1E	777	broad.mit.edu	37	1	181548245	181548245	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:181548245G>T	ENST00000526775.1	+	5	819	c.654G>T	c.(652-654)atG>atT	p.M218I	CACNA1E_ENST00000367573.2_Missense_Mutation_p.M218I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.M218I|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.M169I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M169I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.M218I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	218					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.M218I(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGAAGGCCATGGTACCTCTTC	0.488000													9	162					0.000442599	0.000460501	0.058154	1	0
SMAP1	60682	broad.mit.edu	37	6	71562318	71562318	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:71562318G>T	ENST00000370455.3	+	8	988	c.740G>T	c.(739-741)gGa>gTa	p.G247V	SMAP1_ENST00000370452.3_Missense_Mutation_p.G220V|SMAP1_ENST00000316999.5_Missense_Mutation_p.G220V	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	247					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.G247L(1)|p.G220L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GACATCTTTGGACCGATGATT	0.458000													10	279					1.58986e-06	1.72892e-06	0.069234	1	0
SLC9B2	133308	broad.mit.edu	37	4	103949926	103949926	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:103949926C>A	ENST00000394785.3	-	11	2001	c.1370G>T	c.(1369-1371)tGg>tTg	p.W457L	SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000362026.3_Missense_Mutation_p.W457L|SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000503230.1_Missense_Mutation_p.W400L	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	457					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	p.W457L(4)									CTTTGGAAGCCATGCAAAAGA	0.363000													15	48					0.0285812	0.0291278	0.028581	1	0
GPR34	2857	broad.mit.edu	37	X	41554925	41554925	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:41554925C>G	ENST00000378142.4	+	3	323	c.39C>G	c.(37-39)gtC>gtG	p.V13V	CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron|GPR34_ENST00000378138.5_Silent_p.V13V|CASK_ENST00000318588.9_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	13						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.V13V(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						CAACTTCAGTCAGCAGCTGGC	0.423000													8	419					0	0	0.069234	0	0
ZNF292	23036	broad.mit.edu	37	6	87968870	87968870	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:87968870A>T	ENST00000369577.3	+	8	5566	c.5523A>T	c.(5521-5523)ttA>ttT	p.L1841F	ZNF292_ENST00000339907.4_Missense_Mutation_p.L1836F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1841					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L1696F(2)|p.L1841F(2)		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)		AGGAAATTTTAGAAGGCTTAC	0.373000													15	31					0	0	0.020292	0	0
SLC6A16	28968	broad.mit.edu	37	19	49814442	49814442	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:49814442G>A	ENST00000454748.3	-	2	364	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	SLC6A16_ENST00000335875.4_Missense_Mutation_p.R55W			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	55						integral to membrane|intracellular	neurotransmitter:sodium symporter activity	p.R55W(3)		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)		TCTGCAACCCGGGCTGCTGAA	0.542000													9	59					0	0	0.058154	0	0
RELN	5649	broad.mit.edu	37	7	103155820	103155820	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:103155820C>T	ENST00000424685.2	-	50	8090	c.7931G>A	c.(7930-7932)aGa>aAa	p.R2644K	RELN_ENST00000428762.1_Missense_Mutation_p.R2644K|RELN_ENST00000343529.5_Missense_Mutation_p.R2644K			P78509	RELN_HUMAN	reelin	2644					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	p.R2644K(2)		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)		GCCGTCATGTCTTGGCTGCCA	0.532000													14	62					0	0	0.016723	0	0
TRIML2	205860	broad.mit.edu	37	4	189022242	189022242	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:189022242C>T	ENST00000512729.1	-	3	672	c.298G>A	c.(298-300)Gag>Aag	p.E100K	TRIML2_ENST00000536972.1_Missense_Mutation_p.E150K|TRIML2_ENST00000326754.3_Missense_Mutation_p.E100K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	100							ligase activity	p.E100K(2)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCCTCTAGCTCGGTGGCAAGC	0.413000													16	64					0	0	0.033300	0	0
RYR2	6262	broad.mit.edu	37	1	237948114	237948114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:237948114G>T	ENST00000366574.2	+	90	13419	c.13102G>T	c.(13102-13104)Gag>Tag	p.E4368*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E4374*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E4352*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4368					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	p.K4365_E4366>N*(2)		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)			CGACTTAAAGGAGCTGACAGA	0.537000													48	56					7.77092e-38	1.08968e-37	0.048971	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5190105	5190105	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:5190105C>T	ENST00000274181.7	+	7	1207	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H357Y	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	357	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.H357Y(4)		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						GATAAGTCACCACGCAGACCA	0.488000													87	146					0	0	0.048971	0	0
FOXA3	3171	broad.mit.edu	37	19	46376130	46376130	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:46376130A>T	ENST00000302177.2	+	2	1064	c.867A>T	c.(865-867)ccA>ccT	p.P289P		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	289					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding	p.P289P(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TGGAGCTCCCAGGGGAGCTGA	0.607000													38	24					0	0	0.030466	0	0
NLRP8	126205	broad.mit.edu	37	19	56490839	56490839	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:56490839C>A	ENST00000291971.3	+	9	3027	c.2956C>A	c.(2956-2958)Ctg>Atg	p.L986M	NLRP8_ENST00000590542.1_Missense_Mutation_p.L967M	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	986						cytoplasm	ATP binding	p.L986M(2)		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)		TCTGAGACATCTGGACTTGAG	0.488000													97	94					8.92586e-32	1.22628e-31	0.048971	1	0
RGS1	5996	broad.mit.edu	37	1	192547445	192547445	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:192547445A>G	ENST00000367459.3	+	4	440	c.374A>G	c.(373-375)gAg>gGg	p.E125G	RGS1_ENST00000469578.2_Missense_Mutation_p.E125G	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	125	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.E125R(1)|p.E112R(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				AAGAAAACAGAGTCTGATCTT	0.363000													59	199					0	0	0.048971	0	0
OTOA	146183	broad.mit.edu	37	16	21739597	21739597	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:21739597C>T	ENST00000388958.3	+	19	2053	c.2052C>T	c.(2050-2052)atC>atT	p.I684I	OTOA_ENST00000388957.3_Silent_p.I360I|OTOA_ENST00000388956.4_Silent_p.I605I|OTOA_ENST00000286149.4_Silent_p.I698I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	698					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.I684I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTGTGGACATCATGGGGAACC	0.557000													57	135					0	0	0.048971	0	0
KCNA2	3737	broad.mit.edu	37	1	111146592	111146592	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:111146592C>T	ENST00000485317.1	-	3	1486	c.813G>A	c.(811-813)ggG>ggA	p.G271G	KCNA2_ENST00000440270.1_Silent_p.G271G|KCNA2_ENST00000369770.3_Silent_p.G271G|KCNA2_ENST00000316361.4_Silent_p.G271G			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	271						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G271G(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CCAACTCTGTCCCCAGGGTGA	0.532000													43	185					0	0	0.039052	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43856734	43856734	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:43856734C>T	ENST00000389420.3	-	11	1577	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V	ADAMTS20_ENST00000553158.1_Silent_p.V526V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	526	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding	p.V526V(4)		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)		CTGCTGGTGGCACGTGTTGAG	0.463000													4	16					0	0	0.014758	0	0
PLAT	5327	broad.mit.edu	37	8	42046532	42046532	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:42046532C>G	ENST00000220809.4	-	4	429	c.173G>C	c.(172-174)cGc>cCc	p.R58P	PLAT_ENST00000519510.1_Missense_Mutation_p.R58P|PLAT_ENST00000524009.1_Missense_Mutation_p.R58P|PLAT_ENST00000270189.6_Missense_Mutation_p.R58P|PLAT_ENST00000429710.2_Missense_Mutation_p.R58P|PLAT_ENST00000429089.2_Missense_Mutation_p.R58P|PLAT_ENST00000352041.3_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	58	Fibronectin type-I.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.R58P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAGCACAGGGCGCAGCCATGA	0.502000													102	534					0	0	0.048971	0	0
LIPM	340654	broad.mit.edu	37	10	90572926	90572926	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:90572926A>T	ENST00000539337.1	+	4	473	c.218A>T	c.(217-219)aAc>aTc	p.N73I	LIPM_ENST00000404743.4_Missense_Mutation_p.N113I			Q5VYY2	LIPM_HUMAN	lipase, family member M	113					lipid catabolic process	extracellular region	hydrolase activity	p.N113I(2)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)|skin(1)	7						AACCTGCCCAACAATAGCCTG	0.498000													5	16					0	0	0.014758	0	0
GNPDA2	132789	broad.mit.edu	37	4	44713078	44713078	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:44713078T>C	ENST00000509756.1	-	5	592	c.486A>G	c.(484-486)ctA>ctG	p.L162L	GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000507917.1_Silent_p.L128L|GNPDA2_ENST00000295448.3_Silent_p.L162L|GNPDA2_ENST00000507534.1_Silent_p.L92L			Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	162					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	p.L162L(2)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TATCCATTGCTAGAGTCTTTA	0.393000													41	100					0	0	0.030466	0	0
DSCAML1	57453	broad.mit.edu	37	11	117308768	117308768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:117308768G>T	ENST00000321322.6	-	25	4456	c.4455C>A	c.(4453-4455)agC>agA	p.S1485R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1215R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1425	Fibronectin type-III 6.				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.S1485R(2)		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)		TCCACTCCTCGCTGTTGTCCA	0.602000													44	39					4.1673e-28	5.64212e-28	0.048971	1	0
ZNF644	84146	broad.mit.edu	37	1	91406850	91406850	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:91406850C>A	ENST00000370440.1	-	3	278	c.61G>T	c.(61-63)Ggg>Tgg	p.G21W	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G21W|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G21W(3)		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)		TTGGCAAGCCCATTTAACACA	0.299000													29	136					1.60099e-16	2.0243e-16	0.074837	1	0
PIK3CG	5294	broad.mit.edu	37	7	106524641	106524641	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:106524641C>T	ENST00000359195.3	+	9	3112	c.2802C>T	c.(2800-2802)ggC>ggT	p.G934G	PIK3CG_ENST00000440650.2_Silent_p.G934G|PIK3CG_ENST00000496166.1_Silent_p.G934G	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	934	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.G934G(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCTGTGCAGGCTACTGTGTGG	0.363000													103	174					0	0	0.048971	0	0
TMEM106C	79022	broad.mit.edu	37	12	48358151	48358151	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:48358151C>T	ENST00000429772.2	+	2	245	c.132C>T	c.(130-132)acC>acT	p.T44T	TMEM106C_ENST00000552561.1_Silent_p.T44T|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000550552.1_Silent_p.T44T|TMEM106C_ENST00000449758.2_Silent_p.T44T|TMEM106C_ENST00000549288.1_Silent_p.T44T|TMEM106C_ENST00000256686.6_Silent_p.T44T	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	44						endoplasmic reticulum membrane|integral to membrane		p.T44T(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TGGAATTCACCGGGAGAGATA	0.537000													18	38					0	0	0.043863	0	0
FRMPD1	22844	broad.mit.edu	37	9	37708411	37708411	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:37708411G>A	ENST00000539465.1	+	4	868	c.275G>A	c.(274-276)gGc>gAc	p.G92D	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.G92D			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													5	227					0	0	0.021553	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361663	105361663	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:105361663C>T	ENST00000297581.2	+	2	932	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	295					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.L295L(2)									AAACCTGGGGCTGTTTTTCCT	0.488000													62	264					0	0	0.048971	0	0
LMAN1	3998	broad.mit.edu	37	18	57026338	57026338	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:57026338C>G	ENST00000251047.5	-	1	856	c.139G>C	c.(139-141)Gag>Cag	p.E47Q		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	47	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	p.E47Q(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TATTTGTACTCGAAACGGCGA	0.687000													45	112					0	0	0.048971	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250802	142250802	+	RNA	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:142250802C>A	ENST00000390360.3	-	0	265																											GACACTATAACCATCAGGGAC	0.488000													32	135					2.85442e-18	3.65248e-18	0.045705	1	0
LRBA	987	broad.mit.edu	37	4	151765810	151765810	+	Splice_Site	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:151765810C>G	ENST00000535741.1	-	27	4934	c.4461_splice	c.e27+1	p.K1487_splice	LRBA_ENST00000507224.1_Splice_Site_p.K1487_splice|LRBA_ENST00000357115.3_Splice_Site_p.K1487_splice|LRBA_ENST00000510413.1_Splice_Site_p.K1487_splice			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1487						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.K1487N(2)		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)					GTATACTTACCTTCGCTGCAG	0.323000													21	45					0	0	0.018920	0	0
OR10G4	390264	broad.mit.edu	37	11	123887150	123887150	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:123887150G>A	ENST00000320891.4	+	1	869	c.869G>A	c.(868-870)aGa>aAa	p.R290K		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R290K(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		TACACCCTGAGAAACAAGGAG	0.433000													80	111					0	0	0.048971	0	0
OR56A4	120793	broad.mit.edu	37	11	6024118	6024118	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:6024118G>T	ENST00000330728.4	-	1	306	c.261C>A	c.(259-261)agC>agA	p.S87R		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S87R(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGAGAAGGCTGAGGGGCA	0.592000													31	77					6.04164e-23	8.01969e-23	0.045705	1	0
GPR1	2825	broad.mit.edu	37	2	207041754	207041754	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:207041754G>T	ENST00000407325.2	-	3	580	c.218C>A	c.(217-219)aCt>aAt	p.T73N	GPR1_ENST00000437420.1_Missense_Mutation_p.T73N	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	73						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		GAACCACAGAGTGGTGACTGT	0.468000													13	307					9.31168e-06	9.95202e-06	0.016723	1	0
DNM1P46	196968	broad.mit.edu	37	15	100332548	100332548	+	RNA	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:100332548G>A	ENST00000341853.1	-	0	1643				AC090825.1_ENST00000408584.1_RNA	NR_003260.1																						AGGGCCGTCGGAGGGACCTCA	0.587000													19	53					0	0	0.038395	0	0
ARMC3	219681	broad.mit.edu	37	10	23292330	23292330	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:23292330A>G	ENST00000298032.5	+	13	1802	c.1718A>G	c.(1717-1719)tAt>tGt	p.Y573C	ARMC3_ENST00000376528.4_Missense_Mutation_p.Y310C|ARMC3_ENST00000409049.3_Missense_Mutation_p.Y573C|ARMC3_ENST00000409983.3_Missense_Mutation_p.Y573C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	573							binding	p.Y573C(2)		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						GATGGATTCTATGATTATGGT	0.333000													100	90					0	0	0.048971	0	0
MSX1	4487	broad.mit.edu	37	4	4864774	4864774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:4864774C>A	ENST00000382723.4	+	2	1050	c.816C>A	c.(814-816)taC>taA	p.Y272*		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	266					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	p.Y272*(1)		endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCGCTCTACGGTGCCTCTG	0.706000													7	25					5.18039e-06	5.56855e-06	0.038147	1	0
OR2A14	135941	broad.mit.edu	37	7	143827010	143827010	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:143827010C>A	ENST00000408899.2	+	1	860	c.805C>A	c.(805-807)Cag>Aag	p.Q269K		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q269K(2)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TCCTGAGGAGCAGCAGAAAGT	0.552000													99	321					1.07466e-44	1.52996e-44	0.048971	1	0
OR11A1	26531	broad.mit.edu	37	6	29394899	29394899	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:29394899G>A	ENST00000377149.1	-	5	992	c.520C>T	c.(520-522)Cac>Tac	p.H174Y	OR11A1_ENST00000377147.2_Missense_Mutation_p.H174Y|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Missense_Mutation_p.H174Y			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H174Y(2)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						TGGTCAATGTGGTTGGGGCCA	0.547000													28	63					0	0	0.024334	0	0
IST1	9798	broad.mit.edu	37	16	71955338	71955338	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:71955338A>T	ENST00000378799.6	+	6	890	c.534A>T	c.(532-534)gaA>gaT	p.E178D	IST1_ENST00000538565.1_3'UTR|IST1_ENST00000606369.1_Missense_Mutation_p.E30D|IST1_ENST00000535424.1_Missense_Mutation_p.E191D|IST1_ENST00000378798.5_Missense_Mutation_p.E178D|IST1_ENST00000541571.2_Missense_Mutation_p.E178D|IST1_ENST00000329908.8_Missense_Mutation_p.E178D|IST1_ENST00000538850.1_Missense_Mutation_p.E30D|IST1_ENST00000544564.1_Missense_Mutation_p.E178D|RP11-498D10.5_ENST00000567146.1_RNA	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	178	Interaction with VPS37B.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	p.E178D(2)									TACCCTATGAACCTGACTCTG	0.393000													12	83					0	0	0.013537	0	0
DCDC1	341019	broad.mit.edu	37	11	31312213	31312213	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:31312213C>A	ENST00000597505.1	-	5	940	c.941G>T	c.(940-942)gGa>gTa	p.G314V	DCDC1_ENST00000452803.1_Missense_Mutation_p.G314V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	314					intracellular signal transduction			p.G314L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTTTCTTTTCCCACTGTAAT	0.328000													24	63					4.72057e-08	5.27178e-08	0.021523	1	0
ANKLE2	23141	broad.mit.edu	37	12	133331681	133331681	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:133331681G>C	ENST00000539605.1	-	1	6718	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V	ANKLE2_ENST00000337516.5_Missense_Mutation_p.L74V|ANKLE2_ENST00000357997.5_Missense_Mutation_p.L74V			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	74						cytoplasm|integral to membrane|nuclear envelope		p.L74V(2)		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)		GGATTCAGAAGTTTCAATCGA	0.403000													32	133					0	0	0.041601	0	0
GRIN3A	116443	broad.mit.edu	37	9	104375693	104375693	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:104375693C>A	ENST00000361820.3	-	6	3331	c.2731G>T	c.(2731-2733)Gtt>Ttt	p.V911F	GRIN3A_ENST00000479772.1_5'UTR	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	911					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.V911F(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCACAGGGAACCACCCTGTAC	0.458000													27	27					2.48779e-11	2.93654e-11	0.027356	1	0
XCL1	6375	broad.mit.edu	37	1	168550295	168550295	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:168550295T>C	ENST00000367818.3	+	3	347	c.182T>C	c.(181-183)aTt>aCt	p.I61T		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	61					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	p.I61T(2)		kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					TACAGTTTTATTACCAAACGT	0.468000													30	46					0	0	0.037714	0	0
GRM7	2917	broad.mit.edu	37	3	7620536	7620536	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:7620536C>T	ENST00000486284.1	+	8	2217	c.1943C>T	c.(1942-1944)gCc>gTc	p.A648V	GRM7_ENST00000389336.4_Missense_Mutation_p.A648V|GRM7_ENST00000357716.4_Missense_Mutation_p.A648V|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.A648V|GRM7_ENST00000402647.2_Missense_Mutation_p.A648V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	648					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	p.A648V(2)		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)	CTGATGATTGCCAAACCAGAT	0.473000													50	219					0	0	0.048971	0	0
DBX2	440097	broad.mit.edu	37	12	45410296	45410296	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:45410296G>T	ENST00000332700.6	-	4	964	c.793C>A	c.(793-795)Ctc>Atc	p.L265I		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	265						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L265I(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GACCGTGAGAGGGGATCCTCT	0.483000													49	122					4.86159e-25	6.51122e-25	0.048971	1	0
L1CAM	3897	broad.mit.edu	37	X	153134081	153134081	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:153134081C>T	ENST00000370060.1	-	13	1670	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	L1CAM_ENST00000543994.1_Missense_Mutation_p.R496H|L1CAM_ENST00000538883.1_Missense_Mutation_p.R496H|L1CAM_ENST00000370055.1_Missense_Mutation_p.R489H|L1CAM_ENST00000361699.4_Missense_Mutation_p.R494H|L1CAM_ENST00000370057.3_Missense_Mutation_p.R494H|L1CAM_ENST00000361981.3_Missense_Mutation_p.R489H	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	494	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.R494H(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAAGTAGCGTCCGGTGTC	0.552000													71	22					0	0	0.048971	0	0
AOC2	314	broad.mit.edu	37	17	40996773	40996773	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:40996773G>A	ENST00000253799.3	+	1	157	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	AOC2_ENST00000452774.2_Missense_Mutation_p.A44T	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	44					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.A44T(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ATCCCATAGGGCCCAGCCCTG	0.627000													64	485					0	0	0.048971	0	0
TRPC4	7223	broad.mit.edu	37	13	38266459	38266459	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:38266459G>T	ENST00000379705.3	-	4	1768	c.911C>A	c.(910-912)cCc>cAc	p.P304H	TRPC4_ENST00000426868.2_Missense_Mutation_p.P304H|TRPC4_ENST00000379679.1_Missense_Mutation_p.P131H|TRPC4_ENST00000447043.1_Missense_Mutation_p.P304H|TRPC4_ENST00000338947.5_Missense_Mutation_p.P131H|TRPC4_ENST00000379681.3_Missense_Mutation_p.P304H|TRPC4_ENST00000358477.2_Missense_Mutation_p.P304H|TRPC4_ENST00000379673.2_Missense_Mutation_p.P304H|TRPC4_ENST00000355779.2_Missense_Mutation_p.P304H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	304	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	p.P304H(4)		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)		TTGACAATTGGGCTGGGCAAC	0.438000													28	22					1.12875e-08	1.28166e-08	0.030593	1	0
TUBG2	27175	broad.mit.edu	37	17	40818442	40818442	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:40818442C>T	ENST00000251412.7	+	10	1297	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	366					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	p.Y366Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AGTCTCCCTACCTGCCCTCGG	0.602000													28	230					0	0	0.034045	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659764	24659764	+	RNA	SNP	C	C	G	rs143464834	by1000genomes	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:24659764C>G	ENST00000414583.2	+	0	3289					NR_003714.1																						AGTGTCCTAACAGCCCTGCTT	0.627000													4	26					0	0	0.021553	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209141468	209141468	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:209141468G>T	ENST00000264380.4	+	4	513	c.355G>T	c.(355-357)Ggt>Tgt	p.G119C	PIKFYVE_ENST00000308862.6_Intron|PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.G119C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	119					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.G119C(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TACCTTTGGAGGTCATGACCC	0.428000													48	118					2.13384e-23	2.83751e-23	0.048971	1	0
DPP6	1804	broad.mit.edu	37	7	154379663	154379663	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:154379663G>T	ENST00000406326.1	+	6	1334	c.931G>T	c.(931-933)Gca>Tca	p.A311S	DPP6_ENST00000427557.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.A311S(2)		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)			TCGCAGCCATGCACCTGCAGC	0.592000													126	168					4.23873e-62	6.12809e-62	0.048971	1	0
SCN1A	6323	broad.mit.edu	37	2	166900188	166900188	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:166900188A>T	ENST00000423058.2	-	11	2051	c.2034T>A	c.(2032-2034)acT>acA	p.T678T	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Intron|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Intron|SCN1A_ENST00000303395.4_Silent_p.T678T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	678						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T678T(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATTGTCATCAGTAGCTGGCT	0.463000													29	47					0	0	0.030593	0	0
ACE	1636	broad.mit.edu	37	17	61555354	61555354	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:61555354G>T	ENST00000290866.4	+	2	336	c.312G>T	c.(310-312)ctG>ctT	p.L104L	ACE_ENST00000428043.1_Silent_p.L104L|ACE_ENST00000538928.1_Silent_p.L104L|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	104	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	p.L104L(1)		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)	CCAAGGAGCTGTATGAACCGA	0.652000													17	31					6.94344e-10	8.00589e-10	0.038395	1	0
CFHR5	81494	broad.mit.edu	37	1	196971714	196971714	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:196971714G>T	ENST00000367414.5	+	8	1378	c.1322G>T	c.(1321-1323)tGt>tTt	p.C441F	CFHR5_ENST00000256785.4_Missense_Mutation_p.C417F	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	417	Sushi 7.				complement activation, alternative pathway	extracellular region		p.C417F(2)		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						GCTGTTCTCTGTAAAGAAAAC	0.388000													19	58					7.21436e-19	9.27916e-19	0.049695	1	0
ARHGEF6	9459	broad.mit.edu	37	X	135829672	135829672	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:135829672G>A	ENST00000250617.6	-	3	1534	c.329C>T	c.(328-330)aCa>aTa	p.T110I	ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	110	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.T110I(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTTACCTTCTGTTGCTTTGTT	0.403000													17	85					0	0	0.049695	0	0
HEATR6	63897	broad.mit.edu	37	17	58134604	58134604	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:58134604C>T	ENST00000184956.6	-	12	1900	c.1884G>A	c.(1882-1884)aaG>aaA	p.K628K	HEATR6_ENST00000585976.1_Silent_p.K628K	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	628							binding	p.K628K(2)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CAGGGGCTTTCTTCCACCAAT	0.517000													40	249					0	0	0.030466	0	0
PLA2G6	8398	broad.mit.edu	37	22	38512182	38512182	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:38512182C>T	ENST00000332509.3	-	13	1962	c.1779G>A	c.(1777-1779)ccG>ccA	p.P593P	PLA2G6_ENST00000335539.3_Silent_p.P539P|PLA2G6_ENST00000402064.1_Silent_p.P539P	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	593					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGAGTTCAGCCGGCTGCCGGT	0.602000													5	73					0	0	0.021553	0	0
EFTUD1	79631	broad.mit.edu	37	15	82533698	82533698	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:82533698C>A	ENST00000268206.7	-	5	459	c.291G>T	c.(289-291)gtG>gtT	p.V97V	EFTUD1_ENST00000359445.3_Silent_p.V46V	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	97					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	p.V97V(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGGAAAAGTCCACGTGTCCTG	0.423000													14	55					4.3838e-07	4.84491e-07	0.016723	1	0
LIMCH1	22998	broad.mit.edu	37	4	41687737	41687737	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:41687737G>C	ENST00000313860.7	+	23	2880	c.2826G>C	c.(2824-2826)caG>caC	p.Q942H	LIMCH1_ENST00000509277.1_Missense_Mutation_p.Q775H|LIMCH1_ENST00000514096.1_Missense_Mutation_p.Q782H|LIMCH1_ENST00000508501.1_Missense_Mutation_p.Q941H|LIMCH1_ENST00000513024.1_Missense_Mutation_p.Q795H|LIMCH1_ENST00000512632.1_Missense_Mutation_p.Q865H|LIMCH1_ENST00000512946.1_Missense_Mutation_p.Q942H|LIMCH1_ENST00000512820.1_Missense_Mutation_p.Q954H|LIMCH1_ENST00000396595.3_Missense_Mutation_p.Q787H|LIMCH1_ENST00000511496.1_Missense_Mutation_p.Q782H|LIMCH1_ENST00000503057.1_Missense_Mutation_p.Q1326H|LIMCH1_ENST00000381753.4_Missense_Mutation_p.Q775H	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	942					actomyosin structure organization		actin binding|zinc ion binding	p.Q942H(2)|p.Q1326H(2)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATCCATCCCAGAATCAGCAGA	0.428000													26	74					0	0	0.024334	0	0
HTR1F	3355	broad.mit.edu	37	3	88040798	88040798	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:88040798G>A	ENST00000319595.4	+	1	953	c.899G>A	c.(898-900)gGt>gAt	p.G300D		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	300					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	p.G300D(2)		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)	TTAATCTTGGGTGCATTTGTA	0.368000													6	35					0	0	0.029380	0	0
HAS2	3037	broad.mit.edu	37	8	122641020	122641020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:122641020C>T	ENST00000303924.4	-	2	1098	c.561G>A	c.(559-561)tgG>tgA	p.W187*		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	187						integral to plasma membrane	hyaluronan synthase activity	p.W187*(1)|p.W187C(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTTTCCACCCCATTTTTGCA	0.463000													75	325					0	0	0.048971	0	0
ZNF343	79175	broad.mit.edu	37	20	2464027	2464027	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:2464027C>A	ENST00000278772.4	-	6	2067	c.1580G>T	c.(1579-1581)gGg>gTg	p.G527V	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G527V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AAAGCCTCGCCCACATTCCCT	0.512000													47	95					2.40228e-13	2.92827e-13	0.045515	1	0
OR6N1	128372	broad.mit.edu	37	1	158735615	158735615	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:158735615G>A	ENST00000335094.2	-	1	877	c.858C>T	c.(856-858)aaC>aaT	p.N286N		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N286N(2)		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)					AGATGAAGGGGTTGAGGAAGG	0.527000													87	268					0	0	0.048971	0	0
MYH11	4629	broad.mit.edu	37	16	15917231	15917231	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:15917231T>C	ENST00000338282.6	-	3	489	c.383A>G	c.(382-384)tAt>tGt	p.Y128C	MYH11_ENST00000300036.5_Missense_Mutation_p.Y128C|MYH11_ENST00000576790.1_Missense_Mutation_p.Y128C|MYH11_ENST00000452625.2_Missense_Mutation_p.Y128C|MYH11_ENST00000396324.3_Missense_Mutation_p.Y128C	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	128	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	p.Y128C(4)		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						CAGGTGTTTATAGGGGTTGAC	0.557000			T	CBFB	AML								75	158					0	0	0.048971	0	0
BAZ1A	11177	broad.mit.edu	37	14	35243536	35243536	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:35243536G>C	ENST00000360310.1	-	19	3561	c.2994C>G	c.(2992-2994)atC>atG	p.I998M	BAZ1A_ENST00000358716.4_Missense_Mutation_p.I966M|BAZ1A_ENST00000382422.2_Missense_Mutation_p.I998M	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	998					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TACAAACCTTGATGGCTCCTA	0.348000													4	72					0	0	0.014758	0	0
OTOP2	92736	broad.mit.edu	37	17	72926822	72926822	+	Silent	SNP	G	G	A	rs150890021	by1000genomes	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:72926822G>A	ENST00000331427.4	+	6	1184	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	OTOP2_ENST00000580223.1_Silent_p.T364T	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	364						integral to membrane		p.T364T(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGAACCCCACGCGCACTCTGG	0.617000													16	112					0	0	0.033300	0	0
LINGO2	158038	broad.mit.edu	37	9	27949535	27949535	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:27949535G>T	ENST00000379992.2	-	6	1584	c.1135C>A	c.(1135-1137)Caa>Aaa	p.Q379K	LINGO2_ENST00000308675.3_Missense_Mutation_p.Q379K	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	379	LRRCT.					integral to membrane		p.Q379K(4)		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)		CACATAGGTTGCTGGCCACCA	0.517000													30	27					5.77227e-19	7.43716e-19	0.037714	1	0
DCDC1	341019	broad.mit.edu	37	11	31312214	31312214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:31312214C>A	ENST00000597505.1	-	5	939	c.940G>T	c.(940-942)Gga>Tga	p.G314*	DCDC1_ENST00000452803.1_Nonsense_Mutation_p.G314*			P59894	DCDC1_HUMAN	doublecortin domain containing 1	314					intracellular signal transduction			p.G314L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTTTCTTTTCCCACTGTAATC	0.328000													25	65					4.7796e-09	5.46031e-09	0.024334	1	0
POU3F4	5456	broad.mit.edu	37	X	82763575	82763575	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:82763575G>T	ENST00000373200.2	+	1	307	c.243G>T	c.(241-243)gtG>gtT	p.V81V	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	81					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	p.V81V(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGCAGGACGTGAAGCCCGGGC	0.667000													7	3					0.00198382	0.00204693	0.029380	1	0
LMO7	4008	broad.mit.edu	37	13	76409325	76409325	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:76409325G>A	ENST00000526202.1	+	13	2195	c.2115G>A	c.(2113-2115)cgG>cgA	p.R705R	LMO7_ENST00000465261.2_Intron|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000321797.8_Intron|LMO7_ENST00000357063.3_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	1127						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)		CATTTATACGGCATAAAACCC	0.388000													3	61					0	0	0.004672	0	0
SULT1B1	27284	broad.mit.edu	37	4	70592821	70592821	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:70592821G>C	ENST00000310613.2	-	8	1173	c.876C>G	c.(874-876)ttC>ttG	p.F292L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	292					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		p.F292L(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TCTCTGTGCGGAATTGAAGTG	0.393000													10	126					0	0	0.058154	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373677	86373677	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:86373677A>G	ENST00000604798.1	-	8	2031	c.827T>C	c.(826-828)tTa>tCa	p.L276S	MGAT4C_ENST00000548651.1_Missense_Mutation_p.L276S|MGAT4C_ENST00000393205.2_Missense_Mutation_p.L305S|MGAT4C_ENST00000549405.2_Missense_Mutation_p.L276S|MGAT4C_ENST00000332156.1_Missense_Mutation_p.L276S|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L276S|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	276					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.L276S(2)		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						AAACATTAATAAAAAATGGGC	0.383000													24	51					0	0	0.076483	0	0
SFMBT2	57713	broad.mit.edu	37	10	7325987	7325987	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:7325987G>A	ENST00000361972.4	-	6	741	c.651C>T	c.(649-651)cgC>cgT	p.R217R	SFMBT2_ENST00000397167.1_Silent_p.R217R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	217					regulation of transcription, DNA-dependent	nucleus		p.R217R(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						CATAGCGAAGGCGTAATCTTC	0.413000													11	173					0	0	0.016723	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236615	26236615	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:26236615T>G	ENST00000354667.4	-	5	491	c.323A>C	c.(322-324)cAt>cCt	p.H108P	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.H96P	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	108					RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	p.H108P(2)|p.H96P(2)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CACAGTTACATGAGCCCCTGG	0.383000			T	ETV1	prostate								44	137					0	0	0.048971	0	0
F2RL1	2150	broad.mit.edu	37	5	76128923	76128923	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:76128923T>A	ENST00000296677.4	+	2	697	c.491T>A	c.(490-492)cTc>cAc	p.L164H		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	164					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	p.L164H(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TGTTCCATTCTCTTCATGACC	0.468000													72	237					0	0	0.048971	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63888812	63888812	+	Splice_Site	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:63888812C>G	ENST00000337537.3	-	4	957	c.354_splice	c.e4-1	p.V119_splice	PPP2R5E_ENST00000555899.1_Splice_Site_p.V119_splice|PPP2R5E_ENST00000422769.2_Splice_Site_p.V43_splice|PPP2R5E_ENST00000553266.1_5'UTR	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	119					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.V119L(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		TTGCAAGATACCTAAAAATAA	0.448000													7	82					0	0	0.029380	0	0
PTPN4	5775	broad.mit.edu	37	2	120723109	120723109	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:120723109A>G	ENST00000263708.2	+	25	3217	c.2446A>G	c.(2446-2448)Ata>Gta	p.I816V	PTPN4_ENST00000544261.1_Missense_Mutation_p.I449V	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	816	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	p.I816V(2)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GATCCAGTACATAGCCTGGCC	0.408000													84	106					0	0	0.048971	0	0
BMPER	168667	broad.mit.edu	37	7	34091581	34091581	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:34091581G>T	ENST00000297161.2	+	9	1159	c.786_splice	c.e9+1	p.R262_splice	BMPER_ENST00000494786.1_3'UTR|BMPER_ENST00000426693.1_Splice_Site_p.R262_splice	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	262	VWFC 4.				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		p.R262M(2)		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						TGTACCTGCAGGGTAAGGCAG	0.453000													21	85					1.55795e-14	1.91471e-14	0.062417	1	0
THADA	63892	broad.mit.edu	37	2	43768305	43768305	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:43768305A>T	ENST00000405006.4	-	21	3608	c.3257T>A	c.(3256-3258)gTg>gAg	p.V1086E	THADA_ENST00000330266.7_Missense_Mutation_p.V796E|THADA_ENST00000415080.2_Missense_Mutation_p.V796E|THADA_ENST00000405975.2_Missense_Mutation_p.V1086E	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1086							binding	p.V1086E(2)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TACCTGCTCCACCGTCAATAA	0.388000													34	66					0	0	0.045705	0	0
NRSN2	80023	broad.mit.edu	37	20	334097	334097	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:334097G>A	ENST00000382291.3	+	4	673	c.433G>A	c.(433-435)Gac>Aac	p.D145N	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Missense_Mutation_p.D145N	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	145						integral to membrane|plasma membrane|transport vesicle		p.D145N(1)		endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTGAGCCAGGACACCAAGGC	0.632000													6	112					0	0	0.038147	0	0
NPAP1	23742	broad.mit.edu	37	15	24921525	24921525	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:24921525G>C	ENST00000329468.2	+	1	985	c.511G>C	c.(511-513)Ggg>Cgg	p.G171R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.G171R(2)									GCAGATCGAAGGGGAGGATGA	0.612000													17	87					0	0	0.043863	0	0
CREB3L2	64764	broad.mit.edu	37	7	137586170	137586170	+	Splice_Site	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:137586170T>A	ENST00000330387.6	-	8	1326		c.e8-2		CREB3L2_ENST00000456390.1_Splice_Site	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2						chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GACTCCACTCTACAAAGGAGG	0.463000			T	FUS	fibromyxoid sarcoma								7	81					0	0	0.047766	0	0
DLGAP1	9229	broad.mit.edu	37	18	3845280	3845280	+	Translation_Start_Site	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:3845280C>T	ENST00000400147.2	-	1	79	c.3G>A	c.(1-3)atG>atA	p.M1I	DLGAP1_ENST00000539435.1_Start_Codon_SNP_p.M1I|DLGAP1_ENST00000581699.1_Intron|DLGAP1_ENST00000581527.1_Intron|DLGAP1_ENST00000584874.1_Intron|DLGAP1_ENST00000478161.1_Intron|DLGAP1_ENST00000534970.1_Intron|DLGAP1_ENST00000400155.1_Intron|DLGAP1_ENST00000515196.2_Intron|DLGAP1_ENST00000400149.3_Intron|DLGAP1_ENST00000400145.2_Start_Codon_SNP_p.M1I|DLGAP1_ENST00000400150.3_Intron|DLGAP1_ENST00000315677.3_Intron	NM_001003809.2	NP_001003809.1	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	0					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.M1I(2)		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)				AAATTAAGTTCATTATTCATC	0.368000													11	72					0	0	0.010729	0	0
DCLK1	9201	broad.mit.edu	37	13	36700141	36700141	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:36700141C>A	ENST00000255448.4	-	2	345	c.134G>T	c.(133-135)cGc>cTc	p.R45L	DCLK1_ENST00000379892.4_Missense_Mutation_p.R45L|DCLK1_ENST00000360631.3_Missense_Mutation_p.R45L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	45					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	p.R45L(4)		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)		CTGCAGCGTGCGGGTGCGGTA	0.592000													65	54					1.26778e-28	1.71957e-28	0.048971	1	0
NFATC3	4775	broad.mit.edu	37	16	68225604	68225604	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:68225604G>A	ENST00000349223.5	+	9	3256	c.3032G>A	c.(3031-3033)aGc>aAc	p.S1011N	NFATC3_ENST00000329524.4_Missense_Mutation_p.S1011N|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.S1011N|NFATC3_ENST00000575270.1_Missense_Mutation_p.S1011N	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	1011					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.S1011N(4)		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)		GCAACTGTGAGCATTAAACCT	0.463000													136	204					0	0	0.048971	0	0
IRX1	79192	broad.mit.edu	37	5	3600327	3600327	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:3600327C>T	ENST00000302006.3	+	2	1317	c.1265C>T	c.(1264-1266)gCa>gTa	p.A422V		NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	422						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A422V(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCCCCGGGGGCACTCAATGGA	0.706000													9	19					0	0	0.027356	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925681	114925681	+	Missense_Mutation	SNP	G	G	T	rs66702705		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:114925681G>T	ENST00000355995.4	+	15	2317	c.1810G>T	c.(1810-1812)Gcc>Tcc	p.A604S	TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369397.4_Missense_Mutation_p.A581S|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000536810.1_Missense_Mutation_p.A587S|TCF7L2_ENST00000543371.1_Missense_Mutation_p.A587S|TCF7L2_ENST00000545257.1_Missense_Mutation_p.A604S|TCF7L2_ENST00000542695.1_Missense_Mutation_p.A320S|TCF7L2_ENST00000538897.1_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	604					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.A581S(2)|p.A587S(2)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CAGCTCCCTGGCCGGGACCCA	0.587000			T	VTI1A	colorectal								18	67					6.94344e-10	8.00589e-10	0.038395	1	0
GBP3	2635	broad.mit.edu	37	1	89481013	89481013	+	Missense_Mutation	SNP	G	G	A	rs142900270	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:89481013G>A	ENST00000370481.4	-	3	495	c.275C>T	c.(274-276)aCc>aTc	p.T92I	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	92						integral to membrane	GTP binding|GTPase activity	p.T92I(2)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CAGGACTAAGGTGTGTTCTGG	0.458000													34	244					0	0	0.054565	0	0
FRY	10129	broad.mit.edu	37	13	32776615	32776615	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:32776615A>T	ENST00000380250.3	+	31	4465	c.3969A>T	c.(3967-3969)tcA>tcT	p.S1323S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.S1323S(2)		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)		CCCTCTTGTCATGTGAGCTGG	0.493000													88	66					0	0	0.048971	0	0
IMPG1	3617	broad.mit.edu	37	6	76728444	76728444	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:76728444G>A	ENST00000369950.3	-	7	987	c.798C>T	c.(796-798)tcC>tcT	p.S266S	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	266	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.S266S(2)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCTGAAGTTGGGACTTTCCTG	0.547000													27	153					0	0	0.030593	0	0
MASP1	5648	broad.mit.edu	37	3	186954049	186954049	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:186954049G>C	ENST00000296280.6	-	11	1835	c.1610C>G	c.(1609-1611)gCc>gGc	p.A537G	MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Missense_Mutation_p.A424G|MASP1_ENST00000337774.5_Intron	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	536	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.A537G(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CACCACTCGGGCAGCTGAGCT	0.567000													50	82					0	0	0.048971	0	0
TECRL	253017	broad.mit.edu	37	4	65180482	65180482	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:65180482C>A	ENST00000381210.3	-	5	546		c.e5-1		TECRL_ENST00000513125.1_Splice_Site|TECRL_ENST00000507440.1_Splice_Site	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like						lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CCAAAAACACCTGAAAATAAA	0.328000													6	92					5.9392e-07	6.52525e-07	0.021553	1	0
CDC42BPB	9578	broad.mit.edu	37	14	103412024	103412024	+	Silent	SNP	G	G	C	rs141924737		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:103412024G>C	ENST00000361246.2	-	29	4074	c.3786C>G	c.(3784-3786)ctC>ctG	p.L1262L		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1262	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.L1262L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTATGACATAGAGCCCTTCTT	0.542000													12	67					0	0	0.013537	0	0
ARAP2	116984	broad.mit.edu	37	4	36149346	36149346	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:36149346T>G	ENST00000303965.4	-	18	3512	c.3023A>C	c.(3022-3024)gAa>gCa	p.E1008A		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1008					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.E1008A(1)		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						TGTTAAGTTTTCAGCAAATAA	0.368000													5	57					0	0	0.014758	0	0
POTEH	23784	broad.mit.edu	37	22	16279286	16279286	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:16279286G>T	ENST00000343518.6	-	4	988	c.937C>A	c.(937-939)Ctg>Atg	p.L313M		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	313								p.L313M(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCAAGTAACAGTGGTGTGAGG	0.323000													15	375					8.34094e-07	9.13706e-07	0.049695	1	0
DACH2	117154	broad.mit.edu	37	X	85403695	85403695	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:85403695G>T	ENST00000373131.1	+	1	234	c.71G>T	c.(70-72)cGg>cTg	p.R24L	DACH2_ENST00000373125.4_Missense_Mutation_p.R24L	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.R24L(4)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGCTTATTCCGGGCCGAACCC	0.582000													8	7					0.000157383	0.000165131	0.038147	1	0
ZPBP2	124626	broad.mit.edu	37	17	38031554	38031554	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:38031554C>T	ENST00000377940.3	+	6	829	c.690C>T	c.(688-690)ttC>ttT	p.F230F	ZPBP2_ENST00000584588.1_Silent_p.F179F|ZPBP2_ENST00000348931.4_Silent_p.F252F	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	252					binding of sperm to zona pellucida	extracellular region		p.F252F(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			CATATATTTTCTACCATAACT	0.373000													19	160					0	0	0.049695	0	0
TRAV29DV5	28653	broad.mit.edu	37	14	22631522	22631522	+	RNA	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:22631522C>A	ENST00000390458.3	+	0	225																											CATCCCTGAGCGTCCAGGAAG	0.368000											OREG0022575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	11					6.4e-05	6.7722e-05	0.004672	1	0
RREB1	6239	broad.mit.edu	37	6	7240734	7240734	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:7240734G>C	ENST00000379938.2	+	11	4409	c.3872G>C	c.(3871-3873)cGc>cCc	p.R1291P	RREB1_ENST00000334984.6_Missense_Mutation_p.R1291P|RREB1_ENST00000379933.3_Intron|RREB1_ENST00000349384.6_Intron	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1272					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.R1291P(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AACTGTGAACGCCACCAGTTG	0.438000													58	138					0	0	0.048971	0	0
MIR656	724026	broad.mit.edu	37	14	101533098	101533098	+	RNA	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:101533098T>A	ENST00000385224.1	+	0	38					NR_030392.1																						ACTTTCTATATGATGAATATT	0.522000													19	81					0	0	0.076483	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481535	140481535	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:140481535G>C	ENST00000231130.2	+	1	1302	c.1302G>C	c.(1300-1302)aaG>aaC	p.K434N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		434	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.K434N(2)		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)			TGAAAACCAAGTACAACATAA	0.562000													40	99					0	0	0.027894	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906014	144906014	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:144906014C>A	ENST00000370490.1	+	1	6326	c.2071C>A	c.(2071-2073)Cct>Act	p.P691T	SLITRK2_ENST00000428560.2_Missense_Mutation_p.P691T|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P691T|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P691T|SLITRK2_ENST00000434188.2_Missense_Mutation_p.P691T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	691						integral to membrane		p.P691T(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TATCCCCCCACCTGTGGGTCA	0.468000													104	41					8.27256e-43	1.16881e-42	0.048971	1	0
GAL3ST2	64090	broad.mit.edu	37	2	242741438	242741438	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:242741438T>C	ENST00000192314.6	+	3	493	c.362T>C	c.(361-363)tTc>tCc	p.F121S		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	121					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.F121S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833)		CACCTGAGGTTCAACCTGCCT	0.667000													14	25					0	0	0.020292	0	0
SRCAP	10847	broad.mit.edu	37	16	30721220	30721220	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:30721220C>T	ENST00000262518.4	+	8	1290	c.905C>T	c.(904-906)aCg>aTg	p.T302M	SRCAP_ENST00000344771.4_Missense_Mutation_p.T302M|SRCAP_ENST00000395059.2_Missense_Mutation_p.T302M	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	302	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.T302M(2)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GATGAGGAAACGATTGAAGTT	0.532000													11	105					0	0	0.010729	0	0
RGS4	5999	broad.mit.edu	37	1	163043250	163043250	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:163043250G>C	ENST00000421743.2	+	5	667	c.507G>C	c.(505-507)ggG>ggC	p.G169G	RGS4_ENST00000531057.1_Silent_p.G72G|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000527809.1_Silent_p.G54G|RGS4_ENST00000367909.6_Silent_p.G72G|RGS4_ENST00000367908.4_Intron|RGS4_ENST00000367906.3_Silent_p.G54G	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	72	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.G169G(2)|p.G72G(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TCATAGGTGGGCTGGCAGCTT	0.423000													36	136					0	0	0.025465	0	0
MUC7	4589	broad.mit.edu	37	4	71346890	71346890	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:71346890A>C	ENST00000413702.1	+	4	717	c.429A>C	c.(427-429)gaA>gaC	p.E143D	MUC7_ENST00000304887.5_Missense_Mutation_p.E143D|MUC7_ENST00000456088.1_Missense_Mutation_p.E143D|MUC7_ENST00000514512.1_3'UTR	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	143	Thr-rich.					extracellular region	protein binding	p.E143D(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CTTCAAGAGAAAATGTTAACA	0.458000													49	261					0	0	0.048971	0	0
USP9X	8239	broad.mit.edu	37	X	41000347	41000347	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:41000347A>G	ENST00000324545.7	+	8	1532	c.899A>G	c.(898-900)aAt>aGt	p.N300S	USP9X_ENST00000378308.2_Missense_Mutation_p.N300S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	300					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.N300S(2)|p.N293S(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAAGCAAAGAATGAAGCCAAA	0.299000													92	9					0	0	0.048971	0	0
MYH3	4621	broad.mit.edu	37	17	10535936	10535936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:10535936C>A	ENST00000583535.1	-	34	4900	c.4813G>T	c.(4813-4815)Gag>Tag	p.E1605*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.E1605*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1605					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						CTCCGCACCTCGGCGTCCAGG	0.557000													10	517					1.61879e-10	1.88986e-10	0.013537	1	0
LRRC8C	84230	broad.mit.edu	37	1	90178876	90178876	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:90178876G>T	ENST00000370454.4	+	3	1002	c.747G>T	c.(745-747)agG>agT	p.R249S	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	249						endoplasmic reticulum membrane|integral to membrane		p.R249S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AGAAGTTCAGGCTGCATGTGG	0.403000													52	108					3.77171e-38	5.30886e-38	0.048971	1	0
IGF2BP2-AS1	646600	broad.mit.edu	37	3	185431229	185431229	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:185431229T>C	ENST00000296270.1	+	1	150	c.14T>C	c.(13-15)cTa>cCa	p.L5P	IGF2BP2_ENST00000457616.2_Intron|IGF2BP2_ENST00000421047.2_Intron|IGF2BP2_ENST00000382199.2_Intron|IGF2BP2_ENST00000346192.3_Intron																		all_cancers(143;1.5e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GCAACACCACTAGATAACTGT	0.458000													13	64					0	0	0.016723	0	0
FCGBP	8857	broad.mit.edu	37	19	40367914	40367914	+	Splice_Site	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:40367914T>C	ENST00000221347.6	-	29	13053	c.13045_splice	c.e29-1	p.E4349_splice		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4349						extracellular region	protein binding	p.E4349G(2)		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)			GCAGGTGATCTCTGTGGGCAG	0.607000													47	120					0	0	0.042209	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611402	84611402	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:84611402G>T	ENST00000286744.5	+	18	2396	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.Q724H	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	724	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.Q724H(2)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGAATTCAGACCCGAGATG	0.532000													33	120					1.26612e-14	1.5612e-14	0.059317	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686243	125686243	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:125686243A>G	ENST00000371126.1	-	1	591	c.349T>C	c.(349-351)Tgt>Cgt	p.C117R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	117								p.C117R(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCGTGTTACACTTGGTGCCG	0.642000													31	82					0	0	0.034045	0	0
MBD1	4152	broad.mit.edu	37	18	47799766	47799766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:47799766C>A	ENST00000591416.1	-	13	1953	c.1522G>T	c.(1522-1524)Gag>Tag	p.E508*	MBD1_ENST00000349085.2_Intron|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000347968.3_Nonsense_Mutation_p.E452*|MBD1_ENST00000590208.1_Nonsense_Mutation_p.E508*|MBD1_ENST00000269468.5_Nonsense_Mutation_p.E508*|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000457839.2_Nonsense_Mutation_p.E533*|MBD1_ENST00000398495.2_Nonsense_Mutation_p.E477*|MBD1_ENST00000398493.1_Nonsense_Mutation_p.E452*|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000585672.1_Nonsense_Mutation_p.E458*|MBD1_ENST00000585595.1_Nonsense_Mutation_p.E533*|MBD1_ENST00000353909.3_Nonsense_Mutation_p.E459*|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000424334.2_Nonsense_Mutation_p.E559*|MBD1_ENST00000382948.5_Nonsense_Mutation_p.E508*			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	508					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.E533*(2)|p.E508*(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GGTGTCCACTCGTCCTGGGTA	0.607000													35	95					6.05902e-23	8.02847e-23	0.064281	1	0
PACRG	135138	broad.mit.edu	37	6	163483243	163483243	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:163483243A>C	ENST00000337019.3	+	4	577	c.353A>C	c.(352-354)gAa>gCa	p.E118A	PACRG_ENST00000366888.2_Missense_Mutation_p.E118A|PACRG_ENST00000366889.2_Missense_Mutation_p.E118A	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	118								p.E118A(2)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GGGCTTTGTGAAATGACATTT	0.433000													22	104					0	0	0.076483	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254961	30254961	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:30254961A>T	ENST00000361644.2	+	5	1657	c.920A>T	c.(919-921)tAt>tTt	p.Y307F	MAGEB3_ENST00000378986.1_Missense_Mutation_p.Y307F	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	307	MAGE.							p.Y307V(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CAGTTCTGGTATGAAGAGGCT	0.512000													20	25					0	0	0.043863	0	0
MAP3K9	4293	broad.mit.edu	37	14	71197442	71197442	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:71197442C>A	ENST00000554752.2	-	12	2969	c.2970G>T	c.(2968-2970)gaG>gaT	p.E990D	MAP3K9_ENST00000554146.1_Missense_Mutation_p.E718D|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E967D|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E1004D|MAP3K9_ENST00000553414.1_Missense_Mutation_p.E723D			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	990					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E1004D(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGCAGAAACTCCAGAGTCT	0.627000													44	79					1.0331e-37	1.44595e-37	0.048971	1	0
PRDM9	56979	broad.mit.edu	37	5	23522757	23522757	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:23522757C>T	ENST00000296682.3	+	8	827	c.645C>T	c.(643-645)agC>agT	p.S215S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	215					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.S215S(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCATTGACAGCTGTGCTGCCC	0.502000										HNSCC(3;0.000094)			11	107					0	0	0.013537	0	0
SLC12A5	57468	broad.mit.edu	37	20	44671860	44671860	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:44671860C>A	ENST00000454036.1	+	9	1280	c.1204C>A	c.(1204-1206)Ctg>Atg	p.L402M	SLC12A5_ENST00000243964.3_Missense_Mutation_p.L379M|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	402					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.L379M(2)		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)	CTCGGTGGGCCTGGCCGATGG	0.577000													64	553					3.4266e-16	4.28182e-16	0.048971	1	0
SLC5A8	160728	broad.mit.edu	37	12	101576622	101576622	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:101576622G>A	ENST00000536262.2	-	9	1682	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	375					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.S375L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTCTGAGAGCGATCTGAAGTA	0.368000													14	64					0	0	0.028581	0	0
CDH11	1009	broad.mit.edu	37	16	64981591	64981591	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:64981591T>C	ENST00000268603.4	-	13	2921	c.2306A>G	c.(2305-2307)tAt>tGt	p.Y769C	CDH11_ENST00000566827.1_Missense_Mutation_p.Y643C|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	769					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.Y769C(2)		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)		TAGATAATCATAGTCCAAGTC	0.448000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			69	135					0	0	0.048971	0	0
EEF1A1	1915	broad.mit.edu	37	6	74228549	74228549	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:74228549T>C	ENST00000316292.9	-	4	1635	c.644A>G	c.(643-645)aAa>aGa	p.K215R	EEF1A1_ENST00000309268.6_Missense_Mutation_p.K215R|EEF1A1_ENST00000331523.2_Missense_Mutation_p.K215R|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	215						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.K215R(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACGGGTGACTTTCCATCCCTT	0.502000											OREG0003891|OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	32	51					0	0	0.045705	0	0
TTN	7273	broad.mit.edu	37	2	179639767	179639767	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:179639767G>T	ENST00000589042.1	-	29	6895	c.6671C>A	c.(6670-6672)tCt>tAt	p.S2224Y	TTN_ENST00000591111.1_Missense_Mutation_p.S2224Y|TTN_ENST00000359218.5_Missense_Mutation_p.S2178Y|TTN_ENST00000360870.5_Missense_Mutation_p.S2224Y|TTN_ENST00000342175.6_Missense_Mutation_p.S2178Y|TTN_ENST00000460472.2_Missense_Mutation_p.S2178Y|TTN_ENST00000342992.6_Missense_Mutation_p.S2224Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1961	Ig-like 11.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S2178Y(6)|p.S2224Y(6)		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)			CTTTCTGTCAGAGTGCATCCT	0.398000													44	85					1.61572e-30	2.20353e-30	0.039052	1	0
KEL	3792	broad.mit.edu	37	7	142640627	142640627	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:142640627A>G	ENST00000355265.2	-	15	2123	c.1649T>C	c.(1648-1650)gTa>gCa	p.V550A		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	550					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.V550A(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGAAAGACTACCACATGGTC	0.547000													25	77					0	0	0.034045	0	0
OSBPL8	114882	broad.mit.edu	37	12	76786490	76786490	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:76786490G>A	ENST00000261183.3	-	10	1279	c.800C>T	c.(799-801)tCt>tTt	p.S267F	OSBPL8_ENST00000393249.2_Missense_Mutation_p.S225F|OSBPL8_ENST00000393250.4_Missense_Mutation_p.S225F	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	267					lipid transport		lipid binding	p.S267F(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AAGAAGACTAGAACATTTCAA	0.383000													15	66					0	0	0.024245	0	0
HIVEP2	3097	broad.mit.edu	37	6	143080972	143080972	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:143080972G>C	ENST00000367603.2	-	9	7195	c.6453C>G	c.(6451-6453)taC>taG	p.Y2151*	HIVEP2_ENST00000367604.1_Nonsense_Mutation_p.Y2151*|HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.Y2151*	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y2151*(2)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTGGGTTATGGTATAAAGCCC	0.438000													23	90					0	0	0.076483	0	0
RPS15	6209	broad.mit.edu	37	19	1440170	1440170	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:1440170G>A	ENST00000591804.2	+	4	469	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	RPS15_ENST00000586096.2_Missense_Mutation_p.R81Q|RPS15_ENST00000233609.4_Missense_Mutation_p.R54Q|RPS15_ENST00000585665.1_Missense_Mutation_p.R48Q|RPS15_ENST00000586686.2_Missense_Mutation_p.R81Q|RPS15_ENST00000591032.1_Missense_Mutation_p.R48Q|RPS15_ENST00000593052.1_Missense_Mutation_p.R88Q|RPS15_ENST00000589656.2_Missense_Mutation_p.R81Q			P62841	RS15_HUMAN	ribosomal protein S15	81					endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|protein binding|RNA binding	p.R81Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		ACGCACCTGCGGGACATGATC	0.637000													4	28					0	0	0.014758	0	0
ACBD4	79777	broad.mit.edu	37	17	43215142	43215142	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:43215142G>A	ENST00000431281.1	+	9	1025	c.556G>A	c.(556-558)Ggg>Agg	p.G186R	ACBD4_ENST00000398322.3_Missense_Mutation_p.R173K|ACBD4_ENST00000376955.4_Missense_Mutation_p.R173K|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000321854.8_Missense_Mutation_p.R173K|ACBD4_ENST00000586346.1_Missense_Mutation_p.G186R|ACBD4_ENST00000592162.1_Missense_Mutation_p.R173K|ACBD4_ENST00000591859.1_Missense_Mutation_p.G186R	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	169							fatty-acyl-CoA binding	p.R173K(2)|p.G186R(2)		kidney(1)|lung(3)|ovary(1)	5						CATTCACCCAGGGACCTGGAC	0.597000													115	336					0	0	0.048971	0	0
ZNF80	7634	broad.mit.edu	37	3	113955524	113955524	+	Missense_Mutation	SNP	T	T	C	rs143330045		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:113955524T>C	ENST00000482457.2	-	1	901	c.398A>G	c.(397-399)tAt>tGt	p.Y133C		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	133						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y133C(2)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GCTGCACTCATAGGGCTTCTC	0.537000													8	83					0	0	0.038147	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889431	23889431	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:23889431A>T	ENST00000532292.1	-	1	1744	c.1650T>A	c.(1648-1650)acT>acA	p.T550T		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)		TGAGCTTCTTAGTATTTCCAA	0.473000													4	65					0	0	0.009096	0	0
NMBR	4829	broad.mit.edu	37	6	142397123	142397123	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:142397123A>T	ENST00000258042.1	-	3	975	c.835T>A	c.(835-837)Tgg>Agg	p.W279R		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	279					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	p.W279R(2)		breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTTGGAAACCAACAGAAGATG	0.413000													38	59					0	0	0.074837	0	0
TCP11L1	55346	broad.mit.edu	37	11	33090376	33090376	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:33090376G>T	ENST00000334274.4	+	9	1698	c.1298G>T	c.(1297-1299)aGt>aTt	p.S433I	TCP11L1_ENST00000432887.1_Missense_Mutation_p.S433I|TCP11L1_ENST00000531632.2_Missense_Mutation_p.S433I|TCP11L1_ENST00000324357.9_Missense_Mutation_p.S212I	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	433										kidney(1)|liver(2)|lung(2)|skin(1)	6						GCCGTGGCCAGTCCCGATGAC	0.622000													17	93					4.75885e-15	5.89718e-15	0.033300	1	0
TTC7A	57217	broad.mit.edu	37	2	47256494	47256494	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:47256494G>T	ENST00000319190.5	+	15	2141	c.1773G>T	c.(1771-1773)atG>atT	p.M591I	TTC7A_ENST00000263737.6_Missense_Mutation_p.M237I|TTC7A_ENST00000409245.1_Missense_Mutation_p.M557I|TTC7A_ENST00000394850.2_Missense_Mutation_p.M591I|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	591							binding	p.M591I(1)|p.M591_A592>IS(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TTGTCAACATGGCCATCACCG	0.617000													51	137					2.84144e-21	3.72533e-21	0.048971	1	0
WASH4P	374677	broad.mit.edu	37	16	66989	66989	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:66989A>C	ENST00000326592.9	-	5	1305	c.647T>G	c.(646-648)cTg>cGg	p.L216R															p.L216R(1)									CTCTGCCCCCAGCATCACATG	0.582000													9	29					0	0	0.058154	0	0
TTN	7273	broad.mit.edu	37	2	179497651	179497651	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:179497651C>A	ENST00000589042.1	-	234	43431	c.43207G>T	c.(43207-43209)Gtg>Ttg	p.V14403L	TTN_ENST00000591111.1_Missense_Mutation_p.V12762L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V5463L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V5530L|TTN_ENST00000460472.2_Missense_Mutation_p.V5338L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11835L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12762							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V11835L(4)|p.V5463L(2)|p.V5530L(2)|p.V5338L(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACCTTTCACTTTCAGATTG	0.438000													28	198					9.39395e-14	1.14695e-13	0.030593	1	0
SURF4	6836	broad.mit.edu	37	9	136230446	136230446	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:136230446C>A	ENST00000371989.3	-	6	862	c.733G>T	c.(733-735)Gtg>Ttg	p.V245L	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000467910.1_5'UTR	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	245						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	p.V245L(2)		kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CCCCCAATCACCGACATGGTC	0.532000													14	54					2.31682e-05	2.45504e-05	0.024245	1	0
SLC26A5	375611	broad.mit.edu	37	7	103017307	103017307	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:103017307A>T	ENST00000306312.3	-	19	2250	c.1989T>A	c.(1987-1989)atT>atA	p.I663I	SLC26A5_ENST00000393727.1_Silent_p.I665I|SLC26A5_ENST00000339444.6_Silent_p.I663I|SLC26A5_ENST00000354356.4_Silent_p.I96I|SLC26A5_ENST00000393730.1_Silent_p.I631I|SLC26A5_ENST00000393723.1_Silent_p.I633I|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393729.1_Silent_p.I626I|SLC26A5_ENST00000432958.2_Silent_p.I631I|SLC26A5_ENST00000393735.2_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	663	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.I663I(4)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATTCTTTTACAATCTGTAATA	0.323000													29	99					0	0	0.034045	0	0
LCE3A	353142	broad.mit.edu	37	1	152595433	152595433	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:152595433C>G	ENST00000335674.1	-	1	146	c.147G>C	c.(145-147)ctG>ctC	p.L49L		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	49					keratinization			p.L49L(2)		endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGTGACTCAGGCAGCAGC	0.657000													12	134					0	0	0.028581	0	0
ARMC4	55130	broad.mit.edu	37	10	28260243	28260243	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:28260243C>A	ENST00000305242.5	-	8	1029		c.e8-1		ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000480504.1_Splice_Site|ARMC4_ENST00000537576.1_Splice_Site|ARMC4_ENST00000239715.3_Splice_Site	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4								binding	p.?(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGCTAATTCCCTTTATTTAAA	0.388000													7	62					0.00198382	0.00204693	0.029380	1	0
TROAP	10024	broad.mit.edu	37	12	49719372	49719372	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:49719372G>T	ENST00000551245.1	+	4	537	c.426G>T	c.(424-426)ggG>ggT	p.G142G	TROAP_ENST00000257909.3_Silent_p.G142G			Q12815	TROAP_HUMAN	trophinin associated protein	142					cell adhesion	cytoplasm		p.G142G(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GTCACCTGGGGCGCCAGCCTA	0.582000													22	92					1.50039e-11	1.77665e-11	0.062417	1	0
OTUD7A	161725	broad.mit.edu	37	15	31862303	31862303	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:31862303A>G	ENST00000382902.1	-	2	341	c.249T>C	c.(247-249)ggT>ggC	p.G83G	OTUD7A_ENST00000307050.4_Silent_p.G83G			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	83						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.G83G(2)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCTGCTTGGGACCCCGCCCTT	0.622000													12	94					0	0	0.028581	0	0
SLC45A3	85414	broad.mit.edu	37	1	205631992	205631992	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:205631992C>G	ENST00000367145.3	-	3	1222	c.927G>C	c.(925-927)ccG>ccC	p.P309P		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	309					transmembrane transport	integral to membrane		p.P309P(2)	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)			CCTCGGTGCCCGGCTCAGCTC	0.632000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								27	91					0	0	0.027356	0	0
DDX60L	91351	broad.mit.edu	37	4	169348279	169348279	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:169348279A>T	ENST00000511577.1	-	14	2119	c.1872T>A	c.(1870-1872)gtT>gtA	p.V624V	DDX60L_ENST00000505890.1_Silent_p.V624V|DDX60L_ENST00000260184.7_Silent_p.V624V			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	624							ATP binding|ATP-dependent helicase activity|RNA binding	p.V624V(2)		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)		CTAACATTTCAACTCCAAATT	0.343000													8	14					0	0	0.038147	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21349976	21349976	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:21349976C>A	ENST00000256958.2	+	8	920	c.824C>A	c.(823-825)cCa>cAa	p.P275Q		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	275					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.P275Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TCTTCCATACCATTCTTTTTC	0.393000													19	332					1.56452e-12	1.88248e-12	0.043863	1	0
HDGFL1	154150	broad.mit.edu	37	6	22569979	22569979	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:22569979T>A	ENST00000510882.2	+	1	185	c.175T>A	c.(175-177)Tac>Aac	p.Y59N	HDGFL1_ENST00000230012.3_Missense_Mutation_p.Y59N			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	59	PWWP.							p.Y59N(2)		kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					CCTGTTCCCGTACAAGGAGTG	0.617000													27	76					0	0	0.030593	0	0
BPIFB4	149954	broad.mit.edu	37	20	31680430	31680430	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:31680430A>T	ENST00000375483.3	+	9	1310	c.1310A>T	c.(1309-1311)cAg>cTg	p.Q437L		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	437						cytoplasm|extracellular region	lipid binding	p.Q398L(1)									CTGCAGAAGCAGCATGCTCTA	0.592000													64	130					0	0	0.048971	0	0
DSG3	1830	broad.mit.edu	37	18	29055815	29055815	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:29055815T>A	ENST00000257189.4	+	16	2675	c.2592T>A	c.(2590-2592)gaT>gaA	p.D864E		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	864					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.D864E(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTGGTGTTGATGGTGAAGGCA	0.448000													27	114					0	0	0.027356	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434278	42434278	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:42434278G>A	ENST00000397272.3	-	20	2551	c.2460C>T	c.(2458-2460)ctC>ctT	p.L820L	PLA2G4F_ENST00000382396.4_Silent_p.L818L	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	818	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	p.L818L(2)		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)		TGTATCGACTGAGGGCCACCA	0.587000													11	70					0	0	0.069234	0	0
LRP1B	53353	broad.mit.edu	37	2	141032165	141032165	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:141032165C>A	ENST00000389484.3	-	85	13941	c.12970G>T	c.(12970-12972)Gtg>Ttg	p.V4324L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4324	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V4324L(2)		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)		TGGTGGCACACGTCTAGGAAA	0.353000										TSP Lung(27;0.18)			24	46					2.98393e-07	3.3076e-07	0.076483	1	0
FAF2	23197	broad.mit.edu	37	5	175919294	175919294	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:175919294G>A	ENST00000261942.6	+	5	497	c.444G>A	c.(442-444)ggG>ggA	p.G148G		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	148					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	p.G148G(2)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGAAATATGGGAGGGCACACC	0.488000													13	73					0	0	0.024245	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686656	108686656	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:108686656C>T	ENST00000312143.7	-	3	447	c.84G>A	c.(82-84)ttG>ttA	p.L28L	CMKLR1_ENST00000550402.1_Silent_p.L28L|CMKLR1_ENST00000412676.1_Silent_p.L28L|CMKLR1_ENST00000552995.1_Silent_p.L26L|CMKLR1_ENST00000397688.2_Silent_p.L26L	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	28					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.L26L(2)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ATAAGTCCTCCAAAACCACAA	0.493000													30	49					0	0	0.034045	0	0
RMI1	80010	broad.mit.edu	37	9	86617462	86617462	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:86617462C>G	ENST00000325875.3	+	3	1893	c.1561C>G	c.(1561-1563)Ctc>Gtc	p.L521V		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	521					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						AACTGGAAATCTCTCAAGTTC	0.378000													5	243					0	0	0.021553	0	0
NTRK3	4916	broad.mit.edu	37	15	88678465	88678465	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:88678465C>A	ENST00000394480.1	-	10	1392	c.1071G>T	c.(1069-1071)gaG>gaT	p.E357D	NTRK3_ENST00000317501.3_Missense_Mutation_p.E357D|NTRK3_ENST00000558676.1_Missense_Mutation_p.E357D|NTRK3_ENST00000355254.2_Missense_Mutation_p.E357D|NTRK3_ENST00000557856.1_Missense_Mutation_p.E357D|NTRK3_ENST00000542733.2_Missense_Mutation_p.E259D|NTRK3_ENST00000540489.2_Missense_Mutation_p.E357D|NTRK3_ENST00000360948.2_Missense_Mutation_p.E357D|NTRK3_ENST00000357724.2_Missense_Mutation_p.E357D	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	357	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E357D(6)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCGGAAATCTCTCCCTCTT	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			26	135					7.76418e-22	1.02334e-21	0.027356	1	0
LDLRAD4	753	broad.mit.edu	37	18	13645351	13645351	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:13645351A>T	ENST00000361205.4	+	7	1284	c.616A>T	c.(616-618)Agg>Tgg	p.R206W	RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R151W|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R188W|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R129W|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.R108W|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R169W|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.R206W	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4									p.R169W(2)|p.R206W(2)									AGAGTCCGTGAGGGCCCCACC	0.587000													46	147					0	0	0.045515	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471976	47471976	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:47471976A>G	ENST00000266581.4	-	2	1276	c.810T>C	c.(808-810)cgT>cgC	p.R270R	AMIGO2_ENST00000321382.3_Silent_p.R270R|AMIGO2_ENST00000429635.1_Silent_p.R270R|AMIGO2_ENST00000550413.1_Silent_p.R270R	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	270	LRRCT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		p.R270R(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GAAGTACCTGACGCGAGTGCC	0.493000													8	120					0	0	0.038147	0	0
SLC9A4	389015	broad.mit.edu	37	2	103141553	103141553	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:103141553G>A	ENST00000295269.4	+	10	2346	c.1889G>A	c.(1888-1890)cGc>cAc	p.R630H		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	630					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						ATTCTGATCCGCCGCCAGAAC	0.507000													17	324					0	0	0.043863	0	0
LIN9	286826	broad.mit.edu	37	1	226426782	226426782	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:226426782G>A	ENST00000328205.5	-	12	1728	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S	LIN9_ENST00000481685.1_Missense_Mutation_p.P360S|LIN9_ENST00000366801.1_Missense_Mutation_p.P344S	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	379					cell cycle|DNA replication	nucleoplasm		p.P395S(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATGCTGATGGGCATGGAATAT	0.343000													13	123					0	0	0.016723	0	0
POU6F2	11281	broad.mit.edu	37	7	39243834	39243834	+	Splice_Site	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:39243834G>C	ENST00000518318.2	+	3	233	c.190_splice	c.e3-1	p.G64_splice	POU6F2_ENST00000403058.1_Splice_Site_p.G64_splice|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Splice_Site_p.G56_splice			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	64					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G64A(2)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TGAATTCCAGGGGCTAGAGGA	0.473000													10	48					0	0	0.020292	0	0
COL17A1	1308	broad.mit.edu	37	10	105797421	105797421	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:105797421C>T	ENST00000353479.5	-	46	3471	c.3181G>A	c.(3181-3183)Gca>Aca	p.A1061T	COL17A1_ENST00000369733.3_Missense_Mutation_p.A1016T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1061	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACGTGGCTTGCCAGCTCTGAG	0.592000													4	111					0	0	0.009096	0	0
CCDC178	374864	broad.mit.edu	37	18	30554589	30554589	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:30554589C>A	ENST00000383096.3	-	22	2627	c.2445G>T	c.(2443-2445)gtG>gtT	p.V815V	CCDC178_ENST00000300227.8_Silent_p.V777V|CCDC178_ENST00000579916.1_Silent_p.V135V|CCDC178_ENST00000402325.1_Silent_p.V765V|CCDC178_ENST00000581852.1_Silent_p.V20V|CCDC178_ENST00000406524.2_Silent_p.V839V|CCDC178_ENST00000583930.1_Silent_p.V839V|CCDC178_ENST00000403303.1_Silent_p.V815V|CCDC178_ENST00000579947.1_Silent_p.V815V					coiled-coil domain containing 178									p.V777V(2)|p.V815V(2)									TGAAGAGGACCACCAGTTTGA	0.512000													16	43					2.35188e-11	2.78051e-11	0.038395	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73149304	73149304	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:73149304G>A	ENST00000286657.4	-	22	3203	c.3167C>T	c.(3166-3168)aCc>aTc	p.T1056I		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1056					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.T1056I(2)		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)			TGGTGGCAGGGTGCTACTGCG	0.463000													66	129					0	0	0.048971	0	0
MS4A7	58475	broad.mit.edu	37	11	60150636	60150636	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:60150636A>G	ENST00000358246.1	+	2	215	c.22A>G	c.(22-24)Atg>Gtg	p.M8V	MS4A7_ENST00000534016.1_Missense_Mutation_p.M8V|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Missense_Mutation_p.M8V|MS4A7_ENST00000300184.3_Missense_Mutation_p.M8V	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	8						integral to membrane	receptor activity	p.M8V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ATCCCAAACCATGGGGGTTTC	0.453000													57	108					0	0	0.048971	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21350017	21350017	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:21350017G>A	ENST00000256958.2	+	8	961	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	289					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.E289K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ACCACAAAAAGAAAGAAAAGC	0.353000													12	276					0	0	0.020292	0	0
KIF21A	55605	broad.mit.edu	37	12	39716581	39716581	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:39716581G>A	ENST00000395670.3	-	26	3979	c.3560C>T	c.(3559-3561)aCa>aTa	p.T1187I	KIF21A_ENST00000544797.2_Missense_Mutation_p.T1167I|KIF21A_ENST00000361418.5_Missense_Mutation_p.T1187I|KIF21A_ENST00000541463.2_Missense_Mutation_p.T1151I|KIF21A_ENST00000361961.3_Missense_Mutation_p.T1174I			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1187					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.T1174I(2)		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)				TGCAACAGGTGTGAGAGGGCC	0.498000													55	339					0	0	0.048971	0	0
ST14	6768	broad.mit.edu	37	11	130058061	130058061	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:130058061A>G	ENST00000278742.5	+	2	552	c.134A>G	c.(133-135)aAg>aGg	p.K45R		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	45					proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.K45R(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AACAACGTCAAGAAGGTGGAA	0.617000													36	51					0	0	0.048971	0	0
AKAP11	11215	broad.mit.edu	37	13	42876762	42876762	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:42876762G>C	ENST00000025301.2	+	8	4055	c.3880G>C	c.(3880-3882)Ggt>Cgt	p.G1294R		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1294					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTATGCTGATGGTGACGAAGA	0.398000													7	80					0	0	0.038147	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683293	84683293	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:84683293G>T	ENST00000286744.5	+	24	4197		c.e24-1		ADAMTSL3_ENST00000567476.1_Splice_Site	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3							proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.?(2)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGTTCCAAAGGTGTCCCTCA	0.413000													32	138					3.90053e-15	4.84159e-15	0.050027	1	0
PDILT	204474	broad.mit.edu	37	16	20410590	20410590	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:20410590C>T	ENST00000302451.4	-	2	281	c.33G>A	c.(31-33)gtG>gtA	p.V11V		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	11					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.V11V(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CACAAGCGGCCACCAGCAGCA	0.587000													37	176					0	0	0.036044	0	0
RGS1	5996	broad.mit.edu	37	1	192547444	192547444	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:192547444G>A	ENST00000367459.3	+	4	439	c.373G>A	c.(373-375)Gag>Aag	p.E125K	RGS1_ENST00000469578.2_Missense_Mutation_p.E125K	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	125	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.E125R(1)|p.E125K(1)|p.E112R(1)|p.E112K(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TAAGAAAACAGAGTCTGATCT	0.363000													62	198					0	0	0.048971	0	0
TP53	7157	broad.mit.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:7577551C>A	ENST00000420246.2	-	7	862	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	TP53_ENST00000359597.4_Missense_Mutation_p.G244C|TP53_ENST00000445888.2_Missense_Mutation_p.G244C|TP53_ENST00000269305.4_Missense_Mutation_p.G244C|TP53_ENST00000413465.2_Missense_Mutation_p.G244C|TP53_ENST00000455263.2_Missense_Mutation_p.G244C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCATGCCGCCCATGCAGGAA	0.582000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	21					4.15321e-07	4.59688e-07	0.041601	1	0
GABRB3	2562	broad.mit.edu	37	15	26806314	26806314	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:26806314G>T	ENST00000541819.2	-	9	1115	c.1013C>A	c.(1012-1014)aCt>aAt	p.T338N	GABRB3_ENST00000311550.5_Missense_Mutation_p.T282N|GABRB3_ENST00000545868.1_Missense_Mutation_p.T197N|GABRB3_ENST00000299267.4_Missense_Mutation_p.T282N|GABRB3_ENST00000400188.3_Missense_Mutation_p.T211N			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	282					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	p.T282N(4)|p.T338N(2)		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)	TGTCAGCACAGTTGTGATCCC	0.438000													32	104					1.99505e-19	2.58387e-19	0.050027	1	0
FKBP3	2287	broad.mit.edu	37	14	45603642	45603642	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:45603642T>A	ENST00000216330.3	-	2	428	c.18A>T	c.(16-18)ccA>ccT	p.P6P	FKBP3_ENST00000396062.3_Silent_p.P6P			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	6					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity	p.P6P(2)		NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						ACGCCCGCTGTGGAACGGCCG	0.667000													17	26					0	0	0.045705	0	0
FAP	2191	broad.mit.edu	37	2	163055370	163055370	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:163055370A>T	ENST00000188790.4	-	16	1506	c.1299T>A	c.(1297-1299)ccT>ccA	p.P433P	FAP_ENST00000443424.1_Silent_p.P408P	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	433					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.P433P(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TCTTGCTTGGAGGATAGCTTC	0.373000													21	88					0	0	0.055883	0	0
EMCN	51705	broad.mit.edu	37	4	101344211	101344211	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:101344211C>T	ENST00000296420.4	-	7	713	c.535G>A	c.(535-537)Gca>Aca	p.A179T	EMCN_ENST00000511970.1_Missense_Mutation_p.A166T|EMCN_ENST00000305864.3_Intron	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	179						extracellular region|integral to membrane|plasma membrane		p.A179T(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		GAAGTGCTTGCATTTTTTCCA	0.418000													17	53					0	0	0.038395	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2307157	2307157	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:2307157C>T	ENST00000290974.2	-	8	1249	c.910G>A	c.(910-912)Gct>Act	p.A304T	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A274T|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A234T|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	304					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.A304T(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCCAGGGCAGCGGGTCCCTGC	0.657000													43	63					0	0	0.033182	0	0
HECW2	57520	broad.mit.edu	37	2	197182014	197182014	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:197182014G>T	ENST00000260983.2	-	10	2600	c.2418C>A	c.(2416-2418)gaC>gaA	p.D806E	HECW2_ENST00000409111.1_Missense_Mutation_p.D450E	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	806	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.D806E(2)		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						GGAGAGCCTCGTCCACCCTCT	0.522000													15	43					1.5739e-10	1.84032e-10	0.028581	1	0
SLC7A14	57709	broad.mit.edu	37	3	170216672	170216672	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:170216672C>A	ENST00000231706.4	-	4	858	c.541_splice	c.e4-1	p.G181_splice	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	181						integral to membrane	amino acid transmembrane transporter activity	p.G181G(3)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CTTCACCTTTCCCTAGAGAGG	0.488000													22	62					1.96292e-10	2.2809e-10	0.055883	1	0
NCAPH2	29781	broad.mit.edu	37	22	50960175	50960175	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:50960175C>A	ENST00000395701.3	+	12	1100	c.1006C>A	c.(1006-1008)Cct>Act	p.P336T	NCAPH2_ENST00000520297.1_3'UTR|NCAPH2_ENST00000420993.2_Missense_Mutation_p.P336T|NCAPH2_ENST00000299821.11_Missense_Mutation_p.P336T			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	336					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CCCAGGTAGGCCTTACTCTGT	0.642000													7	199					5.4927e-09	6.26538e-09	0.047766	1	0
OLFM3	118427	broad.mit.edu	37	1	102271669	102271669	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:102271669C>A	ENST00000370103.4	-	5	875	c.662G>T	c.(661-663)tGg>tTg	p.W221L	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.W241L	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	241	Olfactomedin-like.					extracellular region		p.W221L(2)|p.W241L(2)		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)		GTCTGTCATCCAAGCACCAAA	0.408000													49	155					2.55665e-31	3.50599e-31	0.048971	1	0
OTX2	5015	broad.mit.edu	37	14	57268677	57268677	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:57268677C>T	ENST00000339475.5	-	5	946	c.670G>A	c.(670-672)Ggg>Agg	p.G224R	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.G216R|OTX2_ENST00000555006.1_Missense_Mutation_p.G216R	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	216					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E 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	p.G224R(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					AGTGTGGCCCCTGGTCCGGGA	0.527000													27	112					0	0	0.030593	0	0
NPAT	4863	broad.mit.edu	37	11	108040747	108040747	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:108040747G>C	ENST00000278612.8	-	14	2914	c.2809C>G	c.(2809-2811)Cca>Gca	p.P937A		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	937					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.P937A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GGCTGGACTGGAGAGGCAATT	0.383000													108	116					0	0	0.048971	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118203902	118203902	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:118203902A>G	ENST00000369230.3	+	4	479	c.333A>G	c.(331-333)ctA>ctG	p.L111L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	111					lipid catabolic process	extracellular region	triglyceride lipase activity	p.L111L(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AGGTGTTGCTACAGCTGGAAG	0.358000													10	37					0	0	0.069234	0	0
NCDN	23154	broad.mit.edu	37	1	36029491	36029491	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:36029491G>A	ENST00000373243.2	+	6	2117	c.1734G>A	c.(1732-1734)cgG>cgA	p.R578R	NCDN_ENST00000373253.3_Silent_p.R561R|NCDN_ENST00000356090.4_Silent_p.R578R	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	578					neuron projection development	cytosol|dendrite|neuronal cell body		p.R561R(2)|p.R578R(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCATGGCCCGGCTCCTTAGCA	0.572000													24	59					0	0	0.076483	0	0
AGAP3	116988	broad.mit.edu	37	7	150817157	150817157	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:150817157C>T	ENST00000397238.2	+	8	1053	c.1053C>T	c.(1051-1053)cgC>cgT	p.R351R	AGAP3_ENST00000463381.1_Silent_p.R123R|AGAP3_ENST00000473312.1_Silent_p.R351R|AGAP3_ENST00000479901.1_Intron|AGAP3_ENST00000335367.3_Silent_p.R531R	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	315	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGGAGCTGCGCATCGAGACCA	0.657000													9	87					0	0	0.058154	0	0
HVCN1	84329	broad.mit.edu	37	12	111099066	111099066	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:111099066G>A	ENST00000356742.5	-	3	962	c.209C>T	c.(208-210)gCa>gTa	p.A70V	HVCN1_ENST00000548312.1_Missense_Mutation_p.A70V|HVCN1_ENST00000439744.2_Missense_Mutation_p.A50V|HVCN1_ENST00000242607.8_Missense_Mutation_p.A70V			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	70					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	p.A70V(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GTCAGGGGCTGCAGCTCTGCC	0.607000													10	50					0	0	0.016723	0	0
ACTN2	88	broad.mit.edu	37	1	236889278	236889278	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:236889278C>A	ENST00000366578.4	+	5	660	c.494C>A	c.(493-495)aCt>aAt	p.T165N	ACTN2_ENST00000542672.1_Missense_Mutation_p.T165N|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	165	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.T165N(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CAGAGGAAAACTGCTCCTTAT	0.478000													13	324					7.93312e-07	8.7031e-07	0.020292	1	0
SCN2A	6326	broad.mit.edu	37	2	166201299	166201299	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:166201299C>A	ENST00000375437.2	+	16	3087	c.2797C>A	c.(2797-2799)Ctg>Atg	p.L933M	SCN2A_ENST00000357398.3_Missense_Mutation_p.L933M|SCN2A_ENST00000375427.2_Missense_Mutation_p.L933M|SCN2A_ENST00000283256.6_Missense_Mutation_p.L933M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	933					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L933M(2)		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)	CCACTCCTTCCTGATCGTGTT	0.493000													63	199					3.07281e-33	4.26875e-33	0.048971	1	0
CUL2	8453	broad.mit.edu	37	10	35327986	35327986	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:35327986C>A	ENST00000374748.1	-	10	1052	c.739G>T	c.(739-741)Gaa>Taa	p.E247*	CUL2_ENST00000374746.1_Nonsense_Mutation_p.E247*|CUL2_ENST00000602371.1_Nonsense_Mutation_p.E190*|CUL2_ENST00000374751.3_Nonsense_Mutation_p.E247*|CUL2_ENST00000374742.1_Nonsense_Mutation_p.E247*|CUL2_ENST00000537177.1_Nonsense_Mutation_p.E266*|CUL2_ENST00000374749.3_Nonsense_Mutation_p.E247*			Q13617	CUL2_HUMAN	cullin 2	247					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	p.E247*(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CATCGAATTTCTTCATCTTTT	0.318000													6	54					0.00198382	0.00204693	0.029380	1	0
ALPP	250	broad.mit.edu	37	2	233245175	233245175	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:233245175C>T	ENST00000392027.2	+	7	1107	c.838C>T	c.(838-840)Ctg>Ttg	p.L280L	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	280						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)		GCAGGCTTCCCTGGACCCGTC	0.627000													9	249					0	0	0.010729	0	0
PCNT	5116	broad.mit.edu	37	21	47786561	47786561	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr21:47786561A>G	ENST00000359568.5	+	15	2779	c.2672A>G	c.(2671-2673)cAg>cGg	p.Q891R	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	891				Missing (in Ref. 1; AAD10838).	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)					GCCTTCCTGCAGGAGGCCCAG	0.562000													8	87					0	0	0.010729	0	0
RYR2	6262	broad.mit.edu	37	1	237948113	237948113	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:237948113G>T	ENST00000366574.2	+	90	13418	c.13101G>T	c.(13099-13101)aaG>aaT	p.K4367N	RYR2_ENST00000360064.6_Missense_Mutation_p.K4373N|RYR2_ENST00000542537.1_Missense_Mutation_p.K4351N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4367					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	p.K4365_E4366>N*(2)		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)			CCGACTTAAAGGAGCTGACAG	0.532000													48	58					7.77092e-38	1.08968e-37	0.048971	1	0
L1CAM	3897	broad.mit.edu	37	X	153135921	153135921	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:153135921A>C	ENST00000370060.1	-	8	917	c.728T>G	c.(727-729)cTc>cGc	p.L243R	L1CAM_ENST00000543994.1_Missense_Mutation_p.L245R|L1CAM_ENST00000538883.1_Missense_Mutation_p.L245R|L1CAM_ENST00000370055.1_Missense_Mutation_p.L238R|L1CAM_ENST00000361699.4_Missense_Mutation_p.L243R|L1CAM_ENST00000370057.3_Missense_Mutation_p.L243R|L1CAM_ENST00000361981.3_Missense_Mutation_p.L238R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	243	Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGGGAAGAGCAGGCGCGG	0.632000													5	43					0	0	0.021553	0	0
OR8K5	219453	broad.mit.edu	37	11	55927514	55927514	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:55927514A>T	ENST00000313447.1	-	1	279	c.280T>A	c.(280-282)Tat>Aat	p.Y94N		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y94N(2)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CATGCATAATAGGAAATAGTA	0.403000													33	115					0	0	0.059317	0	0
EDNRB	1910	broad.mit.edu	37	13	78492316	78492316	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:78492316G>C	ENST00000377211.4	-	2	815	c.663C>G	c.(661-663)tgC>tgG	p.C221W	EDNRB_ENST00000334286.5_Missense_Mutation_p.C131W|EDNRB_ENST00000446573.1_Missense_Mutation_p.C131W	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	131					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.C131W(2)|p.C221W(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CGTTTCGCATGCACTTGTTCT	0.483000													74	61					0	0	0.048971	0	0
SPG20	23111	broad.mit.edu	37	13	36909952	36909952	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:36909952G>C	ENST00000451493.1	-	2	233	c.16C>G	c.(16-18)Caa>Gaa	p.Q6E	SPG20_ENST00000438666.2_Missense_Mutation_p.Q6E|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Missense_Mutation_p.Q6E|SPG20_ENST00000355182.4_Missense_Mutation_p.Q6E	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	6					cell death	cytoplasm	ubiquitin protein ligase binding	p.Q6E(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TCTCCATTTTGTGGCTCTTGC	0.323000													51	58					0	0	0.048971	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242742789	242742789	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:242742789C>G	ENST00000192314.6	+	4	536	c.405C>G	c.(403-405)ttC>ttG	p.F135L		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	135					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.F135L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833)		ACGACACCTTCTACTTCTCCA	0.667000													7	18					0	0	0.038147	0	0
OR10A3	26496	broad.mit.edu	37	11	7961052	7961052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:7961052G>A	ENST00000360759.3	-	1	89	c.16C>T	c.(16-18)Caa>Taa	p.Q6*		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q6*(2)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACACAGCTTTGATTTTGTCTT	0.403000													46	84					0	0	0.039052	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21068974	21068974	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:21068974C>G	ENST00000381545.3	+	16	2121	c.1902C>G	c.(1900-1902)ttC>ttG	p.F634L	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F634L|SLCO1B3_ENST00000553473.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	634					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)					CTTTAAGATTCCCAGCACTTG	0.294000													5	173					0	0	0.021553	0	0
HAPLN3	145864	broad.mit.edu	37	15	89424754	89424754	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:89424754G>C	ENST00000359595.3	-	3	541	c.327C>G	c.(325-327)caC>caG	p.H109Q	HAPLN3_ENST00000562889.1_Missense_Mutation_p.H171Q	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	109	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.H109Q(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAAAGGAGCGGTGCCTCAGCC	0.657000													25	97					0	0	0.018920	0	0
HIST1H2AI	8329	broad.mit.edu	37	6	27776053	27776053	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:27776053C>A	ENST00000358739.3	+	1	155	c.66C>A	c.(64-66)gcC>gcA	p.A22A		NM_003509.2	NP_003500.1			histone cluster 1, H2ai											lung(3)	3						CTTCTCGGGCCGGGCTTCAGT	0.627000													15	188					4.4004e-07	4.84889e-07	0.018920	1	0
CNGA2	1260	broad.mit.edu	37	X	150912021	150912021	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:150912021A>G	ENST00000329903.4	+	6	1079	c.1046A>G	c.(1045-1047)gAg>gGg	p.E349G		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	349					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.E349G(2)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGATGAGGAGTACCTATTT	0.502000													26	229					0	0	0.018920	0	0
ADCY2	108	broad.mit.edu	37	5	7690926	7690926	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:7690926G>T	ENST00000338316.4	+	5	932	c.843G>T	c.(841-843)ctG>ctT	p.L281L	ADCY2_ENST00000537121.1_Silent_p.L101L|ADCY2_ENST00000513693.1_3'UTR	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	281					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	p.L281L(2)		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						TCCACAACCTGTATGTGAAGC	0.557000													27	83					1.17739e-12	1.42125e-12	0.027356	1	0
FSHB	2488	broad.mit.edu	37	11	30255202	30255202	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:30255202C>A	ENST00000417547.1	+	3	284	c.245C>A	c.(244-246)cCc>cAc	p.P82H	FSHB_ENST00000533718.1_Missense_Mutation_p.P82H|FSHB_ENST00000254122.3_Missense_Mutation_p.P82H	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	82					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity	p.P82H(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GTGAGAGTGCCCGGCTGTGCT	0.502000													21	86					1.96292e-10	2.2809e-10	0.055883	1	0
CHPF2	54480	broad.mit.edu	37	7	150932245	150932245	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:150932245C>A	ENST00000035307.2	+	2	1888	c.375C>A	c.(373-375)gcC>gcA	p.A125A	CHPF2_ENST00000495645.1_Silent_p.A117A	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	125						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.A125A(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTACGGTGGCCCATCACTTCC	0.657000													45	138					1.7489e-18	2.24172e-18	0.042209	1	0
ATRNL1	26033	broad.mit.edu	37	10	117040877	117040877	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:117040877T>A	ENST00000355044.3	+	14	2239	c.2113T>A	c.(2113-2115)Tac>Aac	p.Y705N		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	705	PSI 2.					integral to membrane	sugar binding	p.Y705N(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGTCAAGAACTACACCAAATG	0.353000													23	46					0	0	0.062417	0	0
MAGED1	9500	broad.mit.edu	37	X	51637834	51637834	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:51637834G>T	ENST00000375695.2	+	3	310	c.157G>T	c.(157-159)Gat>Tat	p.D53Y	MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000375722.1_Intron|MAGED1_ENST00000494718.1_Intron	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	0					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	p.D53Y(2)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TCAACTCCGCGATCCGCCTGC	0.632000										Multiple Myeloma(10;0.10)			17	29					5.03518e-11	5.91535e-11	0.043863	1	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138713464	138713464	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:138713464C>G	ENST00000275766.1	-	3	755	c.744G>C	c.(742-744)aaG>aaC	p.K248N		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	248								p.K248N(2)		NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TTTCAAGCATCTTGTGCAGCT	0.403000													24	158					0	0	0.018920	0	0
ITGA2	3673	broad.mit.edu	37	5	52351515	52351515	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:52351515A>G	ENST00000296585.5	+	8	1070	c.927A>G	c.(925-927)atA>atG	p.I309M		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	309	VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	p.I309M(4)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GGTTTGGCATAGCAGTAAGTG	0.398000													24	151					0	0	0.069288	0	0
ADCY2	108	broad.mit.edu	37	5	7727285	7727285	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:7727285C>T	ENST00000338316.4	+	14	1871	c.1782C>T	c.(1780-1782)gcC>gcT	p.A594A	ADCY2_ENST00000537121.1_Silent_p.A414A|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	594					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	p.A594A(1)		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						AGTACCGGGCCACGGCACTGC	0.507000													9	224					0	0	0.047766	0	0
GJA10	84694	broad.mit.edu	37	6	90604983	90604983	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:90604983G>T	ENST00000369352.1	+	1	796	c.796G>T	c.(796-798)Gtg>Ttg	p.V266L		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	266					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.V266L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GAAATATTCTGTGGCCCAGCA	0.413000													23	69					5.35356e-11	6.26963e-11	0.076483	1	0
KCNMA1	3778	broad.mit.edu	37	10	78708951	78708951	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:78708951G>C	ENST00000286627.5	-	21	3436	c.2484C>G	c.(2482-2484)ctC>ctG	p.L828L	KCNMA1_ENST00000406533.3_Silent_p.L890L|RP11-443A13.5_ENST00000426234.1_RNA|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000372440.1_Silent_p.L828L|KCNMA1_ENST00000354353.5_Silent_p.L889L|KCNMA1_ENST00000286628.8_Silent_p.L886L|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000404771.3_Silent_p.L886L|KCNMA1_ENST00000404857.1_Silent_p.L869L|KCNMA1_ENST00000372443.1_Silent_p.L828L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	886					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	p.L890L(1)|p.L828L(1)		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)	ATTCCCGCTTGAGGTACTCAA	0.483000													9	188					0	0	0.069234	0	0
ZBBX	79740	broad.mit.edu	37	3	167078466	167078466	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:167078466G>T	ENST00000392766.2	-	7	659	c.319C>A	c.(319-321)Caa>Aaa	p.Q107K	ZBBX_ENST00000392764.1_Missense_Mutation_p.Q78K|ZBBX_ENST00000392767.2_Missense_Mutation_p.Q107K|ZBBX_ENST00000307529.5_Missense_Mutation_p.Q107K|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.Q107K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	107						intracellular	zinc ion binding	p.Q107K(4)		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						TATTTACCTTGAATCTGTTCC	0.269000													7	18					0.000157383	0.000165131	0.038147	1	0
AHNAK	79026	broad.mit.edu	37	11	62292744	62292744	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:62292744C>T	ENST00000378024.4	-	5	9419	c.9145G>A	c.(9145-9147)Gct>Act	p.A3049T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3049					nervous system development	nucleus	protein binding	p.A3049T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAAGGTCAGCCTTGGGCAGG	0.498000													15	423					0	0	0.020292	0	0
SNHG14	104472715	broad.mit.edu	37	15	25449376	25449376	+	RNA	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:25449376G>T	ENST00000424208.1	+	0	2268				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GTGTTCGTCAGCCTGGCATCC	0.617000													15	33					1.49906e-05	1.59302e-05	0.020292	1	0
DGKB	1607	broad.mit.edu	37	7	14661113	14661113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:14661113G>A	ENST00000403951.2	-	15	1596	c.1177C>T	c.(1177-1179)Caa>Taa	p.Q393*	DGKB_ENST00000406247.3_Nonsense_Mutation_p.Q393*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.Q393*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Nonsense_Mutation_p.Q392*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.Q374*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.Q393*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.Q385*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	393					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	p.Q393*(2)		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)	ACTGTTGATTGTCTTTCCTGT	0.294000													11	21					0	0	0.069234	0	0
LPAR4	2846	broad.mit.edu	37	X	78010954	78010954	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:78010954C>A	ENST00000435339.2	+	2	993	c.588C>A	c.(586-588)gtC>gtA	p.V196V	LPAR4_ENST00000373301.2_Silent_p.V196V	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	196						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.V196V(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCAAACGTGTCTGGAAGACTT	0.413000													9	27					0.000442599	0.000460501	0.058154	1	0
TNN	63923	broad.mit.edu	37	1	175063368	175063368	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:175063368G>A	ENST00000239462.4	+	7	1680	c.1567G>A	c.(1567-1569)Gct>Act	p.A523T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	523	Fibronectin type-III 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.A523T(2)		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)		GAGCAAGAAAGCTGACACCAA	0.532000													16	111					0	0	0.028581	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236626	26236626	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:26236626T>G	ENST00000354667.4	-	5	480	c.312A>C	c.(310-312)aaA>aaC	p.K104N	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.K92N	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	104	RRM 1.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	p.K104N(2)|p.K92N(2)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						GAGCCCCTGGTTTTCCAGATT	0.393000			T	ETV1	prostate								38	116					0	0	0.033182	0	0
MLIP	90523	broad.mit.edu	37	6	54025173	54025173	+	Missense_Mutation	SNP	T	T	A	rs142613357	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:54025173T>A	ENST00000514921.1	+	6	2378	c.2265T>A	c.(2263-2265)gaT>gaA	p.D755E	MLIP_ENST00000370876.2_Intron|MLIP_ENST00000370877.2_Missense_Mutation_p.D155E|MLIP_ENST00000274897.5_Missense_Mutation_p.D231E|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.D766E			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	231						nuclear envelope|PML body	protein binding	p.D231E(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AGGCACTAGATGAACCAGCCA	0.383000													17	49					0	0	0.033300	0	0
MYH6	4624	broad.mit.edu	37	14	23851669	23851669	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:23851669G>T	ENST00000405093.3	-	38	5834	c.5764C>A	c.(5764-5766)Ctt>Att	p.L1922I	MYH6_ENST00000356287.3_Missense_Mutation_p.L1922I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1922					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	p.L1922I(2)		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)		TTGGCTCGAAGCTTGTTGACC	0.592000													33	135					2.61193e-14	3.19951e-14	0.041601	1	0
ZIC4	84107	broad.mit.edu	37	3	147108910	147108910	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:147108910C>T	ENST00000383075.3	-	4	1324	c.812G>A	c.(811-813)tGc>tAc	p.C271Y	ZIC4_ENST00000473123.1_Missense_Mutation_p.C271Y|ZIC4_ENST00000484399.1_Missense_Mutation_p.C271Y|ZIC4_ENST00000425731.3_Missense_Mutation_p.C309Y|ZIC4_ENST00000525172.2_Missense_Mutation_p.C321Y|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Missense_Mutation_p.C65Y	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	271						nucleus	DNA binding|zinc ion binding	p.C271Y(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCACTTGTCGCAGCCCCGCAC	0.637000													18	44					0	0	0.076483	0	0
GLRA2	2742	broad.mit.edu	37	X	14627186	14627186	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:14627186C>T	ENST00000218075.4	+	7	1319	c.789C>T	c.(787-789)atC>atT	p.I263I	GLRA2_ENST00000443437.2_Silent_p.I174I|GLRA2_ENST00000355020.4_Silent_p.I263I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	263					neuropeptide signaling pathway	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	p.I263I(4)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AGATGTACATCCCAAGCCTGC	0.433000													21	95					0	0	0.055883	0	0
RXFP3	51289	broad.mit.edu	37	5	33937437	33937437	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:33937437C>A	ENST00000330120.3	+	1	947	c.592C>A	c.(592-594)Cgg>Agg	p.R198R		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	198						integral to plasma membrane	N-formyl peptide receptor activity	p.R198R(2)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						AGGACACGGCCGGGGCGACTG	0.672000													42	64					2.61675e-31	3.58183e-31	0.045515	1	0
RIMS2	9699	broad.mit.edu	37	8	104927789	104927789	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:104927789A>C	ENST00000507740.1	+	5	1539	c.1303A>C	c.(1303-1305)Agt>Cgt	p.S435R	RIMS2_ENST00000262231.10_Missense_Mutation_p.S482R|RIMS2_ENST00000436393.2_Missense_Mutation_p.S405R|RIMS2_ENST00000406091.3_Missense_Mutation_p.S627R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	705					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S435R(2)|p.S710R(1)|p.S405R(1)|p.S627R(1)		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)			AAAAAAAGGAAGTTTAGCTGA	0.323000										HNSCC(12;0.0054)			6	99					0	0	0.038147	0	0
GALNT15	117248	broad.mit.edu	37	3	16254145	16254145	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:16254145G>T	ENST00000339732.5	+	6	1770	c.1267G>T	c.(1267-1269)Gat>Tat	p.D423Y	GALNT15_ENST00000437509.1_Missense_Mutation_p.D423Y	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15									p.D423Y(2)									CCAAAATCAGGATTCCCATTC	0.537000													53	112					3.19069e-20	4.14678e-20	0.048971	1	0
STAB2	55576	broad.mit.edu	37	12	104098343	104098343	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:104098343G>A	ENST00000388887.2	+	36	4055	c.3851G>A	c.(3850-3852)tGt>tAt	p.C1284Y		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1284					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	p.C1284Y(2)		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						AAGGGAAGATGTAGGACATGC	0.373000													18	37					0	0	0.033300	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925273	4925273	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrY:4925273C>G	ENST00000333703.4	+	4	889	c.376C>G	c.(376-378)Cat>Gat	p.H126D	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.H137D|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.H137D	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	137	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H137D(4)|p.H126D(2)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAGGGATGAGCATTGCTTTTA	0.408000													93	55					0	0	0.048971	0	0
HSPA8	3312	broad.mit.edu	37	11	122930824	122930824	+	Splice_Site	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:122930824C>T	ENST00000534624.1	-	4	840	c.564_splice	c.e4+1	p.K188_splice	HSPA8_ENST00000532636.1_Splice_Site_p.K188_splice|HSPA8_ENST00000526110.1_Splice_Site_p.K169_splice|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000453788.2_Splice_Site_p.K188_splice|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000227378.3_Splice_Site_p.K188_splice	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	188	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	p.K188K(2)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		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;0.0279)		TGGTACATACCTTTTTGTCTA	0.368000													18	192					0	0	0.043863	0	0
HRG	3273	broad.mit.edu	37	3	186395193	186395193	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:186395193C>T	ENST00000232003.4	+	7	1179	c.1099C>T	c.(1099-1101)Cat>Tat	p.H367Y		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	367	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	p.H367Y(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		acaccatccccatgcacacca	0.512000													5	21					0	0	0.014758	0	0
ABCA8	10351	broad.mit.edu	37	17	66891114	66891114	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:66891114C>A	ENST00000269080.2	-	20	2822	c.2685G>T	c.(2683-2685)caG>caT	p.Q895H	ABCA8_ENST00000586539.1_Missense_Mutation_p.Q935H|ABCA8_ENST00000430352.2_Missense_Mutation_p.Q935H	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	895						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q895H(2)|p.Q895Q(1)		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)					AAGCTATGTTCTGGTGCTCCA	0.378000													23	84					3.7963e-18	4.84939e-18	0.018920	1	0
SPATA21	374955	broad.mit.edu	37	1	16727321	16727321	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:16727321C>T	ENST00000335496.1	-	11	1550	c.1068G>A	c.(1066-1068)cgG>cgA	p.R356R	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.R333R	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	356							calcium ion binding	p.R356R(2)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GCAACCGCAGCCGGCCTACGG	0.592000													120	294					0	0	0.048971	0	0
CNOT1	23019	broad.mit.edu	37	16	58580244	58580244	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:58580244G>C	ENST00000317147.5	-	29	4319	c.3987C>G	c.(3985-3987)ctC>ctG	p.L1329L	CNOT1_ENST00000441024.2_Silent_p.L1329L|CNOT1_ENST00000569240.1_Silent_p.L1324L|CNOT1_ENST00000245138.4_Silent_p.L180L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1329					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.L1329L(4)		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)		TGATGGGAGGGAGTTCTTCTG	0.413000													22	119					0	0	0.018920	0	0
POLD1	5424	broad.mit.edu	37	19	50905742	50905742	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:50905742A>G	ENST00000440232.2	+	7	843	c.790A>G	c.(790-792)Aac>Gac	p.N264D	POLD1_ENST00000599857.1_Missense_Mutation_p.N264D|POLD1_ENST00000595904.1_Missense_Mutation_p.N264D	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	264					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|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|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	p.N264D(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGTCGGCTGCAACTGGCTGGA	0.667000								DNA polymerases (catalytic subunits)					11	8					0	0	0.043863	0	0
MIB2	142678	broad.mit.edu	37	1	1563878	1563878	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:1563878G>A	ENST00000357210.4	+	16	2368	c.2152G>A	c.(2152-2154)Gac>Aac	p.D718N	MIB2_ENST00000378708.1_Missense_Mutation_p.D624N|MIB2_ENST00000378710.3_Missense_Mutation_p.D682N|MIB2_ENST00000378712.1_Missense_Mutation_p.D595N|MIB2_ENST00000360522.4_Missense_Mutation_p.D683N|MIB2_ENST00000355826.5_Missense_Mutation_p.D761N|MIB2_ENST00000518681.1_Missense_Mutation_p.D710N|MIB2_ENST00000520777.1_Missense_Mutation_p.D771N|MIB2_ENST00000505820.2_Missense_Mutation_p.D775N|MIB2_ENST00000504599.1_Missense_Mutation_p.D674N	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	718					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.D718N(1)		central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGGCCGCTGTGACGTGAACGT	0.726000													8	27					0	0	0.038147	0	0
PTPRR	5801	broad.mit.edu	37	12	71139815	71139815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:71139815C>A	ENST00000283228.2	-	6	1242	c.790G>T	c.(790-792)Gag>Tag	p.E264*	PTPRR_ENST00000440835.2_Nonsense_Mutation_p.E19*|PTPRR_ENST00000378778.1_Nonsense_Mutation_p.E58*|PTPRR_ENST00000549308.1_Nonsense_Mutation_p.E19*|PTPRR_ENST00000342084.4_Nonsense_Mutation_p.E152*	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	264					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.E264*(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TGGTTTTTCTCTTTGTCTTGT	0.423000													7	47					0.0293803	0.0299014	0.029380	1	0
FAM96A	84191	broad.mit.edu	37	15	64380925	64380925	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:64380925T>A	ENST00000557835.1	-	2	276	c.250A>T	c.(250-252)Acg>Tcg	p.T84S	FAM96A_ENST00000300030.3_Missense_Mutation_p.T84S|FAM96A_ENST00000380290.3_Missense_Mutation_p.T84S|FAM96A_ENST00000559950.1_Missense_Mutation_p.T84S			Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	84					chromosome segregation			p.T84S(2)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						ACTGTTGGCGTGAACCTGATA	0.348000													15	46					0	0	0.024245	0	0
MYH15	22989	broad.mit.edu	37	3	108219032	108219032	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:108219032C>G	ENST00000273353.3	-	5	545	c.489G>C	c.(487-489)aaG>aaC	p.K163N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	163	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.K163N(1)		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						CTGATCGCCTCTTCCCTTTGT	0.463000													41	31					0	0	0.036044	0	0
JMJD4	65094	broad.mit.edu	37	1	227920196	227920196	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:227920196G>A	ENST00000366758.3	-	6	1288	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	SNAP47_ENST00000480897.1_3'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.A414V|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000366760.1_Intron	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	430										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				GTCGGGGTGCGCAACCAAGGA	0.627000													5	156					0	0	0.014758	0	0
ABCA9	10350	broad.mit.edu	37	17	67031811	67031811	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:67031811C>T	ENST00000340001.4	-	7	1143	c.932G>A	c.(931-933)gGc>gAc	p.G311D	ABCA9_ENST00000453985.2_Missense_Mutation_p.G311D|ABCA9_ENST00000370732.2_Missense_Mutation_p.G311D	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	311					transport	integral to membrane	ATP binding|ATPase activity	p.G311D(2)		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)					CAAAGACAGGCCATAGAGGAG	0.383000													18	54					0	0	0.049695	0	0
MYO7B	4648	broad.mit.edu	37	2	128394197	128394197	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:128394197G>C	ENST00000389524.4	+	45	6179	c.6126G>C	c.(6124-6126)aaG>aaC	p.K2042N	MYO7B_ENST00000428314.1_Missense_Mutation_p.K2041N|MYO7B_ENST00000409090.1_Missense_Mutation_p.K894N|MYO7B_ENST00000409816.2_Missense_Mutation_p.K2041N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2041	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.K2285N(1)|p.K2041N(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCCACCCCAAGACCAAGGTAG	0.652000													5	24					0	0	0.014758	0	0
DDB1	1642	broad.mit.edu	37	11	61077340	61077340	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:61077340C>T	ENST00000301764.7	-	20	2891	c.2494G>A	c.(2494-2496)Ggc>Agc	p.G832S	DDB1_ENST00000450997.2_Missense_Mutation_p.G143S	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	832	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	p.G832S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATTGCTGTGCCCACAATGAAG	0.512000								Nucleotide excision repair (NER)					30	133					0	0	0.030593	0	0
ZNF658	26149	broad.mit.edu	37	9	40772612	40772612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:40772612C>A	ENST00000602553.1	-	5	2957	c.2663G>T	c.(2662-2664)gGg>gTg	p.G888V	ZNF658_ENST00000377626.3_Missense_Mutation_p.G888V|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	888					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G888V(2)		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)		GAAAGTCTTCCCACAGTCATT	0.453000													71	106					1.84514e-49	2.64707e-49	0.048971	1	0
MATN2	4147	broad.mit.edu	37	8	99015950	99015950	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:99015950G>T	ENST00000254898.5	+	8	1497	c.1266G>T	c.(1264-1266)gaG>gaT	p.E422D	MATN2_ENST00000524308.1_Missense_Mutation_p.E381D|MATN2_ENST00000522025.2_Missense_Mutation_p.E138D|MATN2_ENST00000521689.1_Missense_Mutation_p.E422D|MATN2_ENST00000520016.1_Missense_Mutation_p.E422D	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	422	EGF-like 5.					proteinaceous extracellular matrix	calcium ion binding	p.E422D(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ACATGGAGGAGAGCTACTACT	0.577000													7	91					2.0095e-06	2.17574e-06	0.029380	1	0
ZNF569	148266	broad.mit.edu	37	19	37903769	37903769	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:37903769C>A	ENST00000316950.6	-	6	2348	c.1791G>T	c.(1789-1791)atG>atT	p.M597I	ZNF569_ENST00000392149.2_Missense_Mutation_p.M597I|ZNF569_ENST00000392150.2_Missense_Mutation_p.M438I	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M597I(2)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGGCCTCTCATGTGCACAA	0.403000													81	80					1.4533e-46	2.07297e-46	0.048971	1	0
SSTR4	6754	broad.mit.edu	37	20	23016252	23016252	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:23016252G>T	ENST00000255008.3	+	1	196	c.132G>T	c.(130-132)gcG>gcT	p.A44A	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	44					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.A44A(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					acgcgcgggcggcgggcATGG	0.711000													19	32					6.94344e-10	8.00589e-10	0.038395	1	0
DPM1	8813	broad.mit.edu	37	20	49558641	49558641	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:49558641C>T	ENST00000371582.4	-	6	452	c.421G>A	c.(421-423)Gat>Aat	p.D141N	RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371588.5_Missense_Mutation_p.D141N|DPM1_ENST00000371583.5_Intron			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	141					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GAGACAATATCAAAATTACCC	0.353000													9	161					0	0	0.069234	0	0
ZPBP2	124626	broad.mit.edu	37	17	38031516	38031516	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:38031516C>T	ENST00000377940.3	+	6	791	c.652C>T	c.(652-654)Cga>Tga	p.R218*	ZPBP2_ENST00000584588.1_Nonsense_Mutation_p.R167*|ZPBP2_ENST00000348931.4_Nonsense_Mutation_p.R240*	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	240					binding of sperm to zona pellucida	extracellular region		p.R240*(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGCAAGAGATCGAATAGAAGA	0.358000													15	162					0	0	0.033300	0	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81442884	81442884	+	RNA	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:81442884A>T	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GGCCAGCCAGACTCCATCCCC	0.597000													4	7					0	0	0.009096	0	0
CSMD3	114788	broad.mit.edu	37	8	113275989	113275989	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:113275989T>A	ENST00000297405.5	-	61	9985	c.9741A>T	c.(9739-9741)acA>acT	p.T3247T	CSMD3_ENST00000455883.2_Silent_p.T3078T|CSMD3_ENST00000352409.3_Silent_p.T3177T|CSMD3_ENST00000343508.3_Silent_p.T3207T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3247	Sushi 25.					integral to membrane|plasma membrane		p.T3247T(1)|p.T3207T(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						AGTCGAAATTTGTTCCTTCCA	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	147					0	0	0.021553	0	0
HECW2	57520	broad.mit.edu	37	2	197298062	197298062	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:197298062T>A	ENST00000260983.2	-	2	268	c.86A>T	c.(85-87)cAg>cTg	p.Q29L		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	29					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.Q29L(2)		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						GGCAAGGCTCTGGAGGTTCTC	0.592000													46	145					0	0	0.048971	0	0
AGTR1	185	broad.mit.edu	37	3	148459426	148459426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:148459426C>A	ENST00000542281.1	+	4	1050	c.604C>A	c.(604-606)Ctg>Atg	p.L202M	AGTR1_ENST00000475347.1_Missense_Mutation_p.L202M|AGTR1_ENST00000474935.1_Missense_Mutation_p.L202M|AGTR1_ENST00000461609.1_Missense_Mutation_p.L202M|AGTR1_ENST00000418473.2_Missense_Mutation_p.L202M|AGTR1_ENST00000349243.3_Missense_Mutation_p.L202M|AGTR1_ENST00000497524.1_Missense_Mutation_p.L202M|AGTR1_ENST00000404754.2_Missense_Mutation_p.L202M|AGTR1_ENST00000402260.1_Missense_Mutation_p.L202M	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	202					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.L202M(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CAAAAATATACTGGGTTTCCT	0.373000													16	64					4.7546e-09	5.44008e-09	0.028581	1	0
GABRA3	2556	broad.mit.edu	37	X	151533027	151533027	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:151533027T>A	ENST00000370314.4	-	2	254	c.16A>T	c.(16-18)Aca>Tca	p.T6S	GABRA3_ENST00000370311.1_Missense_Mutation_p.T6S|GABRA3_ENST00000535043.1_Missense_Mutation_p.T6S	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	6					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	p.T6S(2)		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)	CAGTGACTTGTTTGTGTGATT	0.433000													34	107					0	0	0.069456	0	0
HERC4	26091	broad.mit.edu	37	10	69716678	69716678	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:69716678G>T	ENST00000395198.3	-	18	2253	c.2006C>A	c.(2005-2007)gCa>gAa	p.A669E	HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Missense_Mutation_p.A669E|HERC4_ENST00000373700.4_Missense_Mutation_p.A661E|HERC4_ENST00000277817.6_Missense_Mutation_p.A559E	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	669					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	p.A669E(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AGTAGTTTTTGCTTGGGCATC	0.318000													8	158					9.05144e-12	1.07693e-11	0.016723	1	0
PCDH9	5101	broad.mit.edu	37	13	67799482	67799482	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:67799482G>C	ENST00000377861.3	-	2	3777	c.3091C>G	c.(3091-3093)Cag>Gag	p.Q1031E	PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000377865.2_Intron|PCDH9_ENST00000544246.1_Intron|PCDH9_ENST00000456367.1_Intron			Q9HC56	PCDH9_HUMAN	protocadherin 9	0					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)		CGTTAATACTGGTTGACTGGG	0.428000													63	46					0	0	0.048971	0	0
RHBDD1	84236	broad.mit.edu	37	2	227731981	227731981	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:227731981G>A	ENST00000392062.2	+	5	1037	c.513G>A	c.(511-513)ccG>ccA	p.P171P	RHBDD1_ENST00000341329.3_Silent_p.P171P	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	171						integral to membrane	serine-type endopeptidase activity	p.P171P(3)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTCCTGTACCGAACAGATTTG	0.398000													54	261					0	0	0.048971	0	0
NSF	4905	broad.mit.edu	37	17	44782158	44782158	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:44782158G>A	ENST00000398238.4	+	13	1515	c.1408G>A	c.(1408-1410)Gca>Aca	p.A470T	NSF_ENST00000225282.8_Missense_Mutation_p.A376T|NSF_ENST00000575068.1_Missense_Mutation_p.A465T	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	470					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	p.A470T(2)		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)		CATGGAGAAAGCAGAAAGCCT	0.378000													17	138					0	0	0.055883	0	0
C2CD3	26005	broad.mit.edu	37	11	73825446	73825446	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:73825446C>T	ENST00000334126.7	-	10	1939	c.1713G>A	c.(1711-1713)gtG>gtA	p.V571V	C2CD3_ENST00000313663.7_Silent_p.V571V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	571						centrosome		p.V571V(4)		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)					TTGCTGTAGTCACCTTAGGTG	0.408000													6	54					0	0	0.029380	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090281	238090281	+	RNA	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:238090281G>T	ENST00000450451.1	+	0	1787					NR_027247.2																						GGGCCAGAAGGACTCCTACGT	0.602000													15	31					1.49906e-05	1.59302e-05	0.020292	1	0
TEP1	7011	broad.mit.edu	37	14	20859894	20859894	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:20859894C>G	ENST00000262715.5	-	13	2001	c.1961G>C	c.(1960-1962)aGg>aCg	p.R654T	TEP1_ENST00000556935.1_Missense_Mutation_p.R546T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	654	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.R654T(2)		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)		CTGTCGGTACCTGTTCAGCAT	0.542000													45	198					0	0	0.045515	0	0
CDC25A	993	broad.mit.edu	37	3	48207217	48207217	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:48207217G>C	ENST00000302506.3	-	12	1508	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	CDC25A_ENST00000351231.3_Missense_Mutation_p.S327C|CDC25A_ENST00000459900.1_5'UTR	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	367					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	p.S367C(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ATTCAAAACAGATGCCATCTG	0.423000													31	119					0	0	0.034045	0	0
HIST1H2AJ	8331	broad.mit.edu	37	6	27782453	27782453	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:27782453G>T	ENST00000333151.3	-	1	154	c.66C>A	c.(64-66)gcC>gcA	p.A22A		NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	22					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A22A(3)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						ACTGAAGCCCGGCCCGAGAAG	0.622000													40	56					2.76378e-25	3.70824e-25	0.048971	1	0
PZP	5858	broad.mit.edu	37	12	9344799	9344799	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:9344799C>A	ENST00000261336.2	-	13	1564	c.1536G>T	c.(1534-1536)gaG>gaT	p.E512D	PZP_ENST00000381997.2_Missense_Mutation_p.E381D	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.E512D(2)|p.E381D(2)		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						TGTCTCCTGACTCCACAGGCA	0.463000													17	34					1.67942e-08	1.89538e-08	0.038395	1	0
COL11A1	1301	broad.mit.edu	37	1	103461446	103461446	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:103461446C>A	ENST00000358392.2	-	28	2667	c.2350G>T	c.(2350-2352)Ggt>Tgt	p.G784C	COL11A1_ENST00000512756.1_Missense_Mutation_p.G656C|COL11A1_ENST00000370096.3_Missense_Mutation_p.G772C|COL11A1_ENST00000353414.4_Missense_Mutation_p.G733C	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	772	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCTTGAGACCTCTGACACCA	0.279000													4	192					1.23904e-05	1.32046e-05	0.014758	1	0
C4orf21	55345	broad.mit.edu	37	4	113461166	113461166	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:113461166C>T	ENST00000505019.1	-	27	6150	c.6025G>A	c.(6025-6027)Gta>Ata	p.V2009I	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0								p.V2009I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTGTCCTTACACAGGACAGA	0.403000													5	32					0	0	0.014758	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396791	38396791	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:38396791G>T	ENST00000377698.3	+	2	1199	c.1046G>T	c.(1045-1047)gGg>gTg	p.G349V		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	349					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.G349V(2)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	AGGAAAGTGGGGAACCCCTTT	0.572000													59	34					1.93748e-29	2.63271e-29	0.048971	1	0
HIP1	3092	broad.mit.edu	37	7	75171247	75171247	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:75171247C>A	ENST00000336926.6	-	29	2969	c.2943G>T	c.(2941-2943)atG>atT	p.M981I	HIP1_ENST00000434438.2_Missense_Mutation_p.M930I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	981	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.M983I(2)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCTGAGAATCCATCTCTTGGC	0.453000			T	PDGFRB	CMML								37	151					2.40579e-17	3.05225e-17	0.025465	1	0
PTCHD2	57540	broad.mit.edu	37	1	11596438	11596438	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:11596438G>T	ENST00000294484.6	+	21	4012	c.3874G>T	c.(3874-3876)Gcc>Tcc	p.A1292S	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A1292S|PTCHD2_ENST00000304391.6_Missense_Mutation_p.G178V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1292					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.A1509S(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTGGGCGTGGCCATCGTCTC	0.657000													39	69					2.05212e-20	2.67636e-20	0.080422	1	0
OR5A2	219981	broad.mit.edu	37	11	59190132	59190132	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:59190132C>G	ENST00000302040.4	-	1	317	c.295G>C	c.(295-297)Gcc>Ccc	p.A99P		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A99P(2)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TACTGAGTGGCACAGCCAACA	0.512000													43	75					0	0	0.039052	0	0
KHDC3L	154288	broad.mit.edu	37	6	74072525	74072525	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:74072525G>A	ENST00000370367.3	+	1	126	c.73G>A	c.(73-75)Ggt>Agt	p.G25S		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member									p.G25S(2)|p.G25R(1)									GGAGGTGCTCGGTCACCTCCC	0.577000													22	77					0	0	0.055883	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294756	110294756	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:110294756T>C	ENST00000369805.3	-	15	1527	c.1298A>G	c.(1297-1299)cAt>cGt	p.H433R	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Intron|EPS8L3_ENST00000361965.4_Missense_Mutation_p.H432R	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	432						cytoplasm	protein binding	p.H433R(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTGAGGGTCATGGTTGTGTGT	0.562000													123	302					0	0	0.048971	0	0
DRC1	92749	broad.mit.edu	37	2	26676417	26676417	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:26676417G>T	ENST00000288710.2	+	14	1993	c.1919_splice	c.e14+1	p.R640_splice		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)									p.R640M(2)									AAGAAGCCTAGGTGGGCTGCG	0.612000													13	67					1.3612e-06	1.48459e-06	0.024245	1	0
ARSB	411	broad.mit.edu	37	5	78135202	78135202	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:78135202G>A	ENST00000264914.4	-	6	1726	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	ARSB_ENST00000396151.3_Missense_Mutation_p.P397L|ARSB_ENST00000565165.1_Missense_Mutation_p.P397L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	397					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	p.P397L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CACGAAGTTCGGGTCAATATT	0.428000													24	84					0	0	0.024334	0	0
CSMD1	64478	broad.mit.edu	37	8	2855548	2855548	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:2855548G>T	ENST00000520002.1	-	55	8920	c.8365C>A	c.(8365-8367)Ctg>Atg	p.L2789M	CSMD1_ENST00000400186.3_Missense_Mutation_p.L2731M|CSMD1_ENST00000542608.1_Missense_Mutation_p.L2730M|CSMD1_ENST00000537824.1_Missense_Mutation_p.L2788M|CSMD1_ENST00000602723.1_Missense_Mutation_p.L2731M|CSMD1_ENST00000602557.1_Missense_Mutation_p.L2789M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2789	Sushi 19.					integral to membrane		p.L2788M(2)|p.L2517M(2)		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)		CACGTGGGCAGAGGGCTACTC	0.557000													12	43					5.50884e-06	5.90459e-06	0.013537	1	0
NPBWR1	2831	broad.mit.edu	37	8	53853265	53853265	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:53853265C>A	ENST00000331251.3	+	1	2275	c.798C>A	c.(796-798)ccC>ccA	p.P266P		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	266					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCTGGACGCCCTACCACCTGA	0.657000													4	60					0.00909568	0.00932057	0.009096	1	0
RFTN2	130132	broad.mit.edu	37	2	198482528	198482528	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:198482528A>G	ENST00000295049.3	-	6	1582	c.1046T>C	c.(1045-1047)aTt>aCt	p.I349T		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	349						plasma membrane		p.I349T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GCTCACCTCAATAACAGTCCA	0.313000													21	81					0	0	0.069288	0	0
OR2G2	81470	broad.mit.edu	37	1	247751695	247751695	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:247751695C>G	ENST00000320065.1	+	1	34	c.34C>G	c.(34-36)Cta>Gta	p.L12V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L12V(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			TGAGAGCAACCTAGCAGGTTT	0.393000													106	132					0	0	0.048971	0	0
SMAP1	60682	broad.mit.edu	37	6	71562317	71562317	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:71562317G>T	ENST00000370455.3	+	8	987	c.739G>T	c.(739-741)Gga>Tga	p.G247*	SMAP1_ENST00000370452.3_Nonsense_Mutation_p.G220*|SMAP1_ENST00000316999.5_Nonsense_Mutation_p.G220*	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	247					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.G247L(1)|p.G220L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GGACATCTTTGGACCGATGAT	0.458000													10	281					1.58986e-06	1.72892e-06	0.069234	1	0
CPSF1	29894	broad.mit.edu	37	8	145623236	145623236	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:145623236A>G	ENST00000349769.3	-	20	2100	c.2006T>C	c.(2005-2007)cTg>cCg	p.L669P		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	669					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	mRNA 3'-UTR binding|protein binding	p.L669P(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACTCTTCAGCAGGAACATGGT	0.677000													18	93					0	0	0.018920	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349570	30349570	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:30349570A>G	ENST00000327564.7	+	1	1547	c.1486A>G	c.(1486-1488)Aag>Gag	p.K496E	LRRC37B_ENST00000394713.3_Missense_Mutation_p.K469E|LRRC37B_ENST00000584368.1_Missense_Mutation_p.K481E|LRRC37B_ENST00000543378.2_Missense_Mutation_p.K387E|LRRC37B_ENST00000341671.7_Missense_Mutation_p.K469E|LRRC37B_ENST00000581786.1_3'UTR			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	469						integral to membrane		p.K469E(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGCCCTGGAGAAGACTAGAGC	0.527000													55	114					0	0	0.048971	0	0
WNT7B	7477	broad.mit.edu	37	22	46319011	46319011	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:46319011T>A	ENST00000339464.4	-	4	1149	c.775A>T	c.(775-777)Agc>Tgc	p.S259C	WNT7B_ENST00000409496.3_Missense_Mutation_p.S263C|WNT7B_ENST00000410089.1_Missense_Mutation_p.S243C	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	259					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	p.S259C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTGATAGCTGCGCAGCTGT	0.652000													48	102					0	0	0.048971	0	0
MACF1	23499	broad.mit.edu	37	1	39788376	39788376	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:39788376A>G	ENST00000564288.1	+	32	4903	c.4126A>G	c.(4126-4128)Atc>Gtc	p.I1376V	MACF1_ENST00000361689.2_Missense_Mutation_p.I1381V|MACF1_ENST00000539005.1_Missense_Mutation_p.I1381V|MACF1_ENST00000317713.7_Missense_Mutation_p.I1381V|MACF1_ENST00000567887.1_Missense_Mutation_p.I1413V|MACF1_ENST00000372915.3_Missense_Mutation_p.I1381V|MACF1_ENST00000545844.1_Missense_Mutation_p.I1381V|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1381					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	p.I1381V(3)		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)			TTCAGATGCCATCACTCAAGA	0.488000													33	91					0	0	0.045705	0	0
DLX3	1747	broad.mit.edu	37	17	48072147	48072147	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:48072147A>T	ENST00000434704.2	-	1	441	c.216T>A	c.(214-216)aaT>aaA	p.N72K		NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	72						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N72K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTGCAAGCCCATTGAGATTGA	0.612000													49	106					0	0	0.048971	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014042	75014042	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:75014042A>T	ENST00000379727.3	-	3	1040	c.842T>A	c.(841-843)aTc>aAc	p.I281N	CYP1A1_ENST00000564596.1_Missense_Mutation_p.I20N|CYP1A1_ENST00000395048.2_Missense_Mutation_p.I281N|CYP1A1_ENST00000395049.4_Missense_Mutation_p.I281N|CYP1A1_ENST00000567032.1_Missense_Mutation_p.I281N			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	281					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.I281N(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GCTGTCTGTGATGTCCCGGAT	0.512000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				25	118					0	0	0.024334	0	0
LIPC	3990	broad.mit.edu	37	15	58830684	58830684	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:58830684C>A	ENST00000414170.3	+	3	528	c.241C>A	c.(241-243)Ctg>Atg	p.L81M	LIPC_ENST00000433326.2_Missense_Mutation_p.L81M|LIPC_ENST00000299022.5_Missense_Mutation_p.L81M|LIPC_ENST00000356113.6_Missense_Mutation_p.L81M			P11150	LIPC_HUMAN	lipase, hepatic	81					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	p.L81M(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CAACTCCTCCCTGCCTCTGGT	0.473000													65	200					4.46356e-37	6.23561e-37	0.048971	1	0
CXCL9	4283	broad.mit.edu	37	4	76927399	76927399	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:76927399A>T	ENST00000264888.5	-	2	131	c.93T>A	c.(91-93)tgT>tgA	p.C31*		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	31					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	p.C31*(2)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGATGCAGGAACAGCGACCCT	0.428000													81	162					0	0	0.048971	0	0
CD300C	10871	broad.mit.edu	37	17	72540857	72540857	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:72540857C>T	ENST00000330793.1	-	2	651	c.291G>A	c.(289-291)ctG>ctA	p.L97L		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	97	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.L97L(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TGAGATTCTCCAGGGTCACTG	0.552000													45	111					0	0	0.036044	0	0
ATF6B	1388	broad.mit.edu	37	6	32087669	32087669	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:32087669G>A	ENST00000375201.4	-	9	934	c.889C>T	c.(889-891)Cca>Tca	p.P297S	ATF6B_ENST00000375203.3_Missense_Mutation_p.P300S			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	300					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P300S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCAGGCCGTGGTAGAGAGGGA	0.607000													45	88					0	0	0.048971	0	0
PEX11A	8800	broad.mit.edu	37	15	90226986	90226986	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:90226986C>G	ENST00000300056.3	-	3	515	c.366G>C	c.(364-366)agG>agC	p.R122S	PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.R91S	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	122					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		p.R122S(2)		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)			GGTGAGCAGCCCTCGTTCGCC	0.493000													21	177					0	0	0.049695	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512673	68512673	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:68512673C>A	ENST00000370981.1	-	4	944	c.308G>T	c.(307-309)cGc>cTc	p.R103L	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.R103L|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	103					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.R103L(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATAACGTGGCGCTGCAGAGC	0.577000													58	308					1.13205e-32	1.56971e-32	0.048971	1	0
CWF19L2	143884	broad.mit.edu	37	11	107207336	107207336	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:107207336T>G	ENST00000282251.5	-	15	2333	c.2306A>C	c.(2305-2307)gAa>gCa	p.E769A		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	769							catalytic activity	p.E615A(2)|p.E769A(2)		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)		AGGAATACATTCATAAACCAT	0.333000													27	70					0	0	0.041601	0	0
SSTR5	6755	broad.mit.edu	37	16	1129358	1129358	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:1129358T>A	ENST00000293897.4	+	1	578	c.490T>A	c.(490-492)Tgg>Agg	p.W164R	SSTR5_ENST00000562758.1_Missense_Mutation_p.W164R|SSTR5_ENST00000397547.2_Missense_Mutation_p.W164R	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	164					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CGCCGCGGCCTGGGTCCTGTC	0.721000													3	9					0	0	0.058154	0	0
P2RY10	27334	broad.mit.edu	37	X	78216847	78216847	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:78216847G>C	ENST00000171757.2	+	4	1110	c.830G>C	c.(829-831)tGt>tCt	p.C277S	P2RY10_ENST00000544091.1_Missense_Mutation_p.C277S	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	277						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.C277S(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						ATTAGCAGTTGTCCCGTTGTC	0.413000													72	62					0	0	0.048971	0	0
DENND2A	27147	broad.mit.edu	37	7	140301227	140301227	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:140301227C>G	ENST00000275884.6	-	2	1388	c.971G>C	c.(970-972)aGa>aCa	p.R324T	DENND2A_ENST00000492720.1_Missense_Mutation_p.R324T|DENND2A_ENST00000537639.1_Missense_Mutation_p.R324T|DENND2A_ENST00000496613.1_Missense_Mutation_p.R324T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	324								p.R324T(2)		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)					GGATTTCTGTCTCCCGGTCCA	0.572000													17	163					0	0	0.038395	0	0
PIK3CB	5291	broad.mit.edu	37	3	138375084	138375084	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:138375084A>G	ENST00000477593.1	-	22	3048	c.2975T>C	c.(2974-2976)aTt>aCt	p.I992T	PIK3CB_ENST00000289153.2_Missense_Mutation_p.I992T|PIK3CB_ENST00000544716.1_Missense_Mutation_p.I443T			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	992	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.I992T(2)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCGTCGTAAAATCAGATATGC	0.458000													12	41					0	0	0.016723	0	0
ATG7	10533	broad.mit.edu	37	3	11382132	11382132	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:11382132A>G	ENST00000354449.3	+	10	928	c.903A>G	c.(901-903)gcA>gcG	p.A301A	ATG7_ENST00000354956.5_Silent_p.A301A|ATG7_ENST00000446450.2_Silent_p.A262A	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	301					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	p.A301A(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GTCCTAAAGCAGTTGGATGGG	0.393000													14	64					0	0	0.020292	0	0
ARMC3	219681	broad.mit.edu	37	10	23270366	23270366	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:23270366A>T	ENST00000298032.5	+	9	1098	c.1014A>T	c.(1012-1014)caA>caT	p.Q338H	ARMC3_ENST00000376528.4_Missense_Mutation_p.Q75H|ARMC3_ENST00000409049.3_Missense_Mutation_p.Q338H|ARMC3_ENST00000409983.3_Missense_Mutation_p.Q338H	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	338							binding	p.Q338H(1)		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						CTGCTTCCCAAGCTATTTCAG	0.363000													4	70					0	0	0.009096	0	0
ZNF697	90874	broad.mit.edu	37	1	120165639	120165639	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:120165639C>T	ENST00000421812.2	-	3	1446	c.1327G>A	c.(1327-1329)Ggg>Agg	p.G443R		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G443R(1)|p.G34R(1)		ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		AAGCCCTTCCCGCACTCGCGG	0.667000													4	10					0	0	0.009096	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489461	133489461	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:133489461C>A	ENST00000409261.1	-	17	5665	c.5292G>T	c.(5290-5292)atG>atT	p.M1764I	NCKAP5_ENST00000405974.3_Missense_Mutation_p.M445I|NCKAP5_ENST00000317721.6_Missense_Mutation_p.M1764I|NCKAP5_ENST00000409213.1_Missense_Mutation_p.M445I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1764							protein binding	p.M1764I(2)|p.M284I(2)		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						TTTGGGCTCTCATGGAAGAAA	0.582000													20	91					4.26978e-12	5.10457e-12	0.018920	1	0
FRMPD2	143162	broad.mit.edu	37	10	49371699	49371699	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:49371699C>T	ENST00000374201.3	-	28	3855	c.3553G>A	c.(3553-3555)Gct>Act	p.A1185T	FRMPD2_ENST00000407470.4_Missense_Mutation_p.A1153T|FRMPD2_ENST00000474573.1_Missense_Mutation_p.A137T|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A1160T	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1185					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.A1185T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTTTGTCAGCTGAGAGTTCA	0.458000													11	193					0	0	0.038395	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923368	159923368	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:159923368G>T	ENST00000368093.3	-	2	238	c.122C>A	c.(121-123)cCc>cAc	p.P41H	SLAMF9_ENST00000368092.3_Missense_Mutation_p.P41H	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	41						integral to membrane		p.P41H(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TATTTCCAGGGGGAGGCTGAT	0.527000													69	131					2.18329e-32	3.01617e-32	0.048971	1	0
TAGLN2	8407	broad.mit.edu	37	1	159890305	159890305	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:159890305T>A	ENST00000368096.1	-	2	304	c.58A>T	c.(58-60)Att>Ttt	p.I20F	TAGLN2_ENST00000320307.4_5'UTR|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368097.4_5'UTR	NM_001277224.1	NP_001264153.1	P37802	TAGL2_HUMAN	transgelin 2	0					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCATTCCAATGGGTGGCGGT	0.572000													20	58					0	0	0.049695	0	0
PHACTR3	116154	broad.mit.edu	37	20	58318161	58318161	+	Splice_Site	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:58318161G>A	ENST00000371015.1	+	2	585		c.e2-1		PHACTR3_ENST00000359926.3_Splice_Site|PHACTR3_ENST00000355648.4_Splice_Site|PHACTR3_ENST00000395636.2_Splice_Site|PHACTR3_ENST00000361300.4_Splice_Site|PHACTR3_ENST00000541461.1_Splice_Site|PHACTR3_ENST00000395639.4_Splice_Site	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3							nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.?(2)		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)			TCGTCTTCCAGATGAGATGGA	0.587000													102	211					0	0	0.048971	0	0
MFSD8	256471	broad.mit.edu	37	4	128842683	128842683	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:128842683G>A	ENST00000296468.3	-	12	1473	c.1346C>T	c.(1345-1347)cCt>cTt	p.P449L	MFSD8_ENST00000513559.1_Missense_Mutation_p.P404L|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	449					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.P449L(2)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GCTTACCTGAGGTTTTGGTCC	0.378000													34	62					0	0	0.059317	0	0
DISP1	84976	broad.mit.edu	37	1	223178410	223178410	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:223178410C>G	ENST00000284476.6	+	8	3835	c.3671C>G	c.(3670-3672)gCa>gGa	p.A1224G		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1224					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.A1224G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AACAGCCAAGCAAAGAATTTA	0.473000													43	115					0	0	0.027894	0	0
CEP55	55165	broad.mit.edu	37	10	95263113	95263113	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:95263113G>C	ENST00000371485.3	+	3	731	c.427G>C	c.(427-429)Gaa>Caa	p.E143Q		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	143					cell division|mitosis	centriole|cleavage furrow|midbody		p.E143Q(2)		kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				TGCTGAACTTGAAAGCAAAAC	0.383000													23	104					0	0	0.076483	0	0
MADD	8567	broad.mit.edu	37	11	47314115	47314115	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:47314115A>C	ENST00000311027.5	+	21	3548	c.3383A>C	c.(3382-3384)gAa>gCa	p.E1128A	MADD_ENST00000402192.2_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000405573.2_5'UTR|MADD_ENST00000395336.3_Missense_Mutation_p.E1128A|MADD_ENST00000342922.4_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000395344.3_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000407859.3_Intron	NM_003682.3	NP_003673.3	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1128					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	p.E1128A(2)		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)		AAGCACCAGGAAGTGAAAAAG	0.493000													16	102					0	0	0.038395	0	0
NEGR1	257194	broad.mit.edu	37	1	72163734	72163734	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:72163734A>T	ENST00000357731.4	-	4	863	c.624T>A	c.(622-624)gaT>gaA	p.D208E	NEGR1_ENST00000306821.3_Missense_Mutation_p.D80E|NEGR1_ENST00000434200.1_Intron|NEGR1_ENST00000467479.1_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	208	Ig-like C2-type 2.			D -> A (in Ref. 2).	cell adhesion	anchored to membrane|plasma membrane		p.D208E(2)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGAATGACACATCATTTTCCG	0.353000													21	125					0	0	0.069288	0	0
HSPA9	3313	broad.mit.edu	37	5	137909529	137909529	+	Missense_Mutation	SNP	T	T	C	rs138260125		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:137909529T>C	ENST00000297185.3	-	3	276	c.151A>G	c.(151-153)Atc>Gtc	p.I51V		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	51					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	p.I51V(2)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTCCCTTGATTGCTTCTGAT	0.373000													28	23					0	0	0.045705	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107035616	107035616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:107035616G>A	ENST00000369063.3	-	7	1393	c.928C>T	c.(928-930)Cga>Tga	p.R310*	RTN4IP1_ENST00000539449.1_Intron	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	310						mitochondrion	oxidoreductase activity|zinc ion binding	p.R310*(2)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		ATGCCCAATCGGTCCATGTTC	0.502000													39	75					0	0	0.080422	0	0
NFYC	4802	broad.mit.edu	37	1	41236480	41236480	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:41236480C>T	ENST00000372652.1	+	10	1568	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	NFYC_ENST00000372653.1_Missense_Mutation_p.P296S|NFYC_ENST00000425457.2_Missense_Mutation_p.P349S|NFYC_ENST00000372654.1_Missense_Mutation_p.P330S|NFYC_ENST00000427410.2_Missense_Mutation_p.P292S|NFYC_ENST00000447388.3_Missense_Mutation_p.P330S|NFYC_ENST00000308733.5_Missense_Mutation_p.P453S|NFYC_ENST00000456393.2_Missense_Mutation_p.P329S|NFYC_ENST00000372651.1_Missense_Mutation_p.P330S|NFYC_ENST00000440226.3_Missense_Mutation_p.P330S			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	453					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	p.P330S(1)		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)			CGGGCAGGCCCCCCAGGTGAC	0.642000													20	111					0	0	0.055883	0	0
TENM1	10178	broad.mit.edu	37	X	123631060	123631060	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:123631060G>C	ENST00000422452.2	-	20	3564	c.3501C>G	c.(3499-3501)gtC>gtG	p.V1167V	TENM1_ENST00000371130.3_Silent_p.V1167V	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.V1169V(2)									TGGTTGATATGACTGGGGGCT	0.423000													39	14					0	0	0.080422	0	0
UNC13C	440279	broad.mit.edu	37	15	54307661	54307661	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:54307661C>A	ENST00000545554.1	+	1	2561	c.2561C>A	c.(2560-2562)aCg>aAg	p.T854K	UNC13C_ENST00000537900.1_Missense_Mutation_p.T854K|UNC13C_ENST00000260323.11_Missense_Mutation_p.T854K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	854					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.T854K(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GATGTCTACACGGAGCCCTAT	0.423000													28	55					2.4375e-19	3.14597e-19	0.034045	1	0
SIM1	6492	broad.mit.edu	37	6	100838954	100838954	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:100838954C>A	ENST00000369208.3	-	12	2366	c.1584G>T	c.(1582-1584)tgG>tgT	p.W528C	SIM1_ENST00000262901.4_Missense_Mutation_p.W528C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	528	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.W528C(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TATCTTCATCCCAATGACCTC	0.403000													20	94					1.10513e-12	1.33619e-12	0.069288	1	0
TSHZ2	128553	broad.mit.edu	37	20	51871901	51871901	+	Missense_Mutation	SNP	G	G	A	rs139065096	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:51871901G>A	ENST00000371497.5	+	2	2791	c.1904G>A	c.(1903-1905)cGc>cAc	p.R635H	TSHZ2_ENST00000329613.6_Missense_Mutation_p.R632H|TSHZ2_ENST00000603338.2_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													9	156					0	0	0.047766	0	0
SYP	6855	broad.mit.edu	37	X	49050789	49050789	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:49050789G>C	ENST00000263233.4	-	4	329	c.257C>G	c.(256-258)aCc>aGc	p.T86S	SYP_ENST00000538567.1_5'UTR|SYP_ENST00000479808.1_Missense_Mutation_p.T86S	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	86	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				CCCTCGGCAGGTGGGTGCATC	0.582000													12	622					0	0	0.016723	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47274578	47274578	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:47274578A>G	ENST00000337137.4	+	5	833	c.667A>G	c.(667-669)Atc>Gtc	p.I223V	TBC1D22A_ENST00000407381.3_Missense_Mutation_p.I164V|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.I176V|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.I145V|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.I176V	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	223	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CTGGTCCGGAATCCCTAAGCC	0.522000													4	191					0	0	0.014758	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593003	96593003	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:96593003T>C	ENST00000456556.1	-	28	1982	c.1898A>G	c.(1897-1899)aAt>aGt	p.N633S						ankyrin repeat domain 36C									p.N633S(2)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TGTGGCTATATTTGAAACAGA	0.328000													30	70					0	0	0.037714	0	0
CLEC7A	64581	broad.mit.edu	37	12	10280406	10280406	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:10280406C>T	ENST00000353231.5	-	2	300	c.142G>A	c.(142-144)Gta>Ata	p.V48I	CLEC7A_ENST00000533022.1_Missense_Mutation_p.V48I|CLEC7A_ENST00000525605.1_Missense_Mutation_p.V48I|CLEC7A_ENST00000396484.2_Intron|CLEC7A_ENST00000310002.4_Missense_Mutation_p.V48I|CLEC7A_ENST00000298523.5_Missense_Mutation_p.V48I|CLEC7A_ENST00000304084.8_Missense_Mutation_p.V48I	NM_022570.4	NP_072092.2	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	48					carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding	p.V48I(3)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CCCAAAATTACAGCAATGAGG	0.483000													4	4					0	0	0.009096	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607513	84607513	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:84607513C>T	ENST00000344803.2	+	4	2175	c.2128C>T	c.(2128-2130)Ctg>Ttg	p.L710L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.L710L(4)									CCATGAGTCTCTGTCATTGCT	0.483000													37	47					0	0	0.064281	0	0
CSMD3	114788	broad.mit.edu	37	8	113275890	113275890	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:113275890A>T	ENST00000297405.5	-	61	10084	c.9840T>A	c.(9838-9840)agT>agA	p.S3280R	CSMD3_ENST00000455883.2_Missense_Mutation_p.S3111R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3210R|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3240R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3280	Sushi 25.					integral to membrane|plasma membrane		p.S3240R(2)|p.S3280R(2)		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						GTACTTCACCACTCCAGGTAC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			35	67					0	0	0.064281	0	0
GH1	2688	broad.mit.edu	37	17	61995377	61995377	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:61995377G>T	ENST00000323322.5	-	3	333	c.291_splice	c.e3+1	p.S97_splice	GH1_ENST00000458650.2_Splice_Site_p.S82_splice|GH1_ENST00000342364.4_Intron|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	97			S -> F (in IGHD1B; reduced ability to activate the JAK/STAT pathway).		glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	p.S97S(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						ATCCACTCACGGATTTCTGTT	0.572000													106	130					8.08851e-39	1.14065e-38	0.048971	1	0
C20orf194	25943	broad.mit.edu	37	20	3340199	3340199	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:3340199C>T	ENST00000252032.9	-	7	721	c.654G>A	c.(652-654)aaG>aaA	p.K218K		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	218								p.K218K(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TAGGATCCATCTTGCTGTAGA	0.373000													6	79					0	0	0.021553	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970637	45970637	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr21:45970637G>C	ENST00000391621.1	-	1	751	c.705C>G	c.(703-705)tgC>tgG	p.C235W	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	235						keratin filament		p.C235W(2)		large_intestine(1)|lung(4)|skin(1)	6						ACACGGGGCGGCAGAGGAGGG	0.672000													59	69					0	0	0.048971	0	0
ZEB1	6935	broad.mit.edu	37	10	31810791	31810791	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:31810791A>G	ENST00000446923.2	+	7	2871	c.2480A>G	c.(2479-2481)tAc>tGc	p.Y827C	ZEB1_ENST00000361642.5_Missense_Mutation_p.Y844C|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.Y823C|ZEB1_ENST00000320985.10_Missense_Mutation_p.Y843C|ZEB1_ENST00000542815.3_Missense_Mutation_p.Y776C	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	843					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	p.Y843C(2)		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)				CAGGTGGCATACACCTACTCA	0.483000													57	47					0	0	0.048971	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110504206	110504206	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:110504206T>A	ENST00000378402.5	+	62	10323	c.10219T>A	c.(10219-10221)Tgg>Agg	p.W3407R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3407					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.W3409R(2)		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)			TTCAACTCTCTGGCATGCAGC	0.338000										HNSCC(38;0.096)			6	21					0	0	0.021553	0	0
LNX1	84708	broad.mit.edu	37	4	54327087	54327087	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:54327087C>T	ENST00000306888.2	-	10	2137	c.1886G>A	c.(1885-1887)gGc>gAc	p.G629D	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.G725D	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	725						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TAAAAAAGTGCCAGGCCAAGA	0.338000													4	144					0	0	0.009096	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318672	21318672	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:21318672G>T	ENST00000583088.1	+	3	913	c.18G>T	c.(16-18)cgG>cgT	p.R6R	KCNJ12_ENST00000331718.5_Silent_p.R6R	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CGGCCAGCCGGGCCAACCCCT	0.697000										Prostate(3;0.18)			4	40					1.23904e-05	1.32046e-05	0.014758	1	0
WFDC11	259239	broad.mit.edu	37	20	44278014	44278014	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:44278014C>T	ENST00000356562.2	-	4	346	c.125G>A	c.(124-126)tGc>tAc	p.C42Y	WFDC11_ENST00000324384.3_Missense_Mutation_p.C42Y			Q8NEX6	WFD11_HUMAN	WAP four-disulfide core domain 11	42						extracellular region		p.C42Y(2)		endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				CTTTCCCCAGCATTCTTCAAG	0.393000													66	163					0	0	0.048971	0	0
ME2	4200	broad.mit.edu	37	18	48447064	48447064	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:48447064C>T	ENST00000321341.5	+	9	1150	c.878C>T	c.(877-879)gCa>gTa	p.A293V	ME2_ENST00000382927.3_Missense_Mutation_p.A293V	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	293					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	p.A293V(2)		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)	GGTCTTCTTGCAGCACAAAAA	0.348000													31	98					0	0	0.045705	0	0
CNTRL	11064	broad.mit.edu	37	9	123920102	123920102	+	Silent	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:123920102A>C	ENST00000373855.1	+	29	4841	c.4581A>C	c.(4579-4581)gcA>gcC	p.A1527A	CNTRL_ENST00000373850.1_Silent_p.A975A|CNTRL_ENST00000373847.1_Silent_p.A975A|CNTRL_ENST00000238341.5_Silent_p.A1527A|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1527					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.A1527A(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAATTGTAGCAGCAAAAGACT	0.408000													43	69					0	0	0.045515	0	0
PRR5	55615	broad.mit.edu	37	22	45132764	45132764	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:45132764G>A	ENST00000403581.1	+	10	1482	c.873G>A	c.(871-873)gcG>gcA	p.A291A	PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000336985.6_Silent_p.A268A|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000517296.3_Intron	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		AGCACGAGGCGGAGGGCGCGG	0.711000													4	76					0	0	0.009096	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779094	97779094	+	Splice_Site	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:97779094T>C	ENST00000344386.3	+	7	821	c.657_splice	c.e7+1	p.N219_splice	CC2D2B_ENST00000410012.2_Splice_Site_p.N219_splice|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	219								p.N219N(4)		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)		ATGATAGAAATGTAAGTATAT	0.358000													15	97					0	0	0.020292	0	0
TTLL2	83887	broad.mit.edu	37	6	167754837	167754837	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:167754837A>T	ENST00000239587.5	+	3	1537	c.1449A>T	c.(1447-1449)gcA>gcT	p.A483A		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	483					protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.A483A(2)		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)		CTGAAGCTGCACCTGCCTCCC	0.517000													29	110					0	0	0.041601	0	0
KIF21A	55605	broad.mit.edu	37	12	39701384	39701384	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:39701384C>G	ENST00000395670.3	-	33	4847	c.4428G>C	c.(4426-4428)agG>agC	p.R1476S	KIF21A_ENST00000544797.2_Missense_Mutation_p.R1438S|KIF21A_ENST00000361418.5_Missense_Mutation_p.R1475S|KIF21A_ENST00000541463.2_Missense_Mutation_p.R1422S|KIF21A_ENST00000361961.3_Missense_Mutation_p.R1462S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1475					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1462S(1)		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)				GATCCCACATCCTGACAGCAT	0.398000													10	122					0	0	0.058154	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925700	218925700	+	RNA	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:218925700A>T	ENST00000439871.1	-	0	680					NR_002712.1																						TGGCATGGACAATGGCCAGGT	0.537000													6	12					0	0	0.029380	0	0
TEX15	56154	broad.mit.edu	37	8	30703478	30703478	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:30703478G>C	ENST00000256246.2	-	1	3130	c.3056C>G	c.(3055-3057)aCt>aGt	p.T1019S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1019								p.T1019S(2)		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)		TCCTACTTTAGTTATAAGCTG	0.338000													60	282					0	0	0.048971	0	0
HIST1H2AH	85235	broad.mit.edu	37	6	27115128	27115128	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:27115128A>T	ENST00000377459.1	+	1	268	c.221A>T	c.(220-222)aAc>aTc	p.N74I		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	74					nucleosome assembly	nucleosome|nucleus	DNA binding	p.N74I(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GCCCGCGACAACAAGAAGACC	0.647000													32	92					0	0	0.050027	0	0
DKK2	27123	broad.mit.edu	37	4	107845748	107845748	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:107845748T>A	ENST00000285311.3	-	3	1188	c.483A>T	c.(481-483)ggA>ggT	p.G161G	DKK2_ENST00000510463.1_Silent_p.G115G|DKK2_ENST00000513208.1_Silent_p.G61G	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	161					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.G161G(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GATTCTGCCATCCCAAGTCAT	0.418000													45	147					0	0	0.045515	0	0
NF1	4763	broad.mit.edu	37	17	29657349	29657349	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:29657349G>A	ENST00000358273.4	+	39	6028	c.5645G>A	c.(5644-5646)tGt>tAt	p.C1882Y	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.C1861Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1882					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.C1882Y(4)|p.?(3)|p.C1882F(1)	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)		GCCTTAACTTGTACCTTTAAT	0.353000			"""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)			49	78					0	0	0.048971	0	0
AQP9	366	broad.mit.edu	37	15	58458996	58458996	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:58458996C>T	ENST00000219919.4	+	2	606	c.236C>T	c.(235-237)tCt>tTt	p.S79F	AQP9_ENST00000558772.1_Missense_Mutation_p.S14F|AQP9_ENST00000536493.1_Missense_Mutation_p.S79F|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	79					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.S79F(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GGCGGTGTCTCTGGTAAGCAG	0.448000													18	193					0	0	0.038395	0	0
FOXR1	283150	broad.mit.edu	37	11	118851198	118851198	+	Splice_Site	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:118851198A>G	ENST00000317011.3	+	5	836		c.e5-1			NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1						embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific 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	p.?(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCCTGTCCATAGAAAGCACTT	0.537000													82	117					0	0	0.048971	0	0
PRMT10	90826	broad.mit.edu	37	4	148559746	148559746	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:148559746T>C	ENST00000322396.6	-	12	2717	c.2475A>G	c.(2473-2475)ggA>ggG	p.G825G	PRMT10_ENST00000541232.1_Silent_p.G712G|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	825						cytoplasm	binding|protein methyltransferase activity	p.G825G(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CAAGTTCCTCTCCCATTTCAA	0.408000													36	152					0	0	0.080422	0	0
LGALS2	3957	broad.mit.edu	37	22	37966600	37966600	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:37966600G>T	ENST00000215886.4	-	3	406	c.232C>A	c.(232-234)Cca>Aca	p.P78T		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	78	Galectin.							p.P78T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					TCTGACCCTGGGCTGAAGCAC	0.582000													103	236					8.87708e-63	1.28588e-62	0.048971	1	0
ASAH2	56624	broad.mit.edu	37	10	52005145	52005145	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:52005145C>A	ENST00000395526.3	-	2	196	c.197G>T	c.(196-198)cGc>cTc	p.R66L	ASAH2_ENST00000447815.1_Missense_Mutation_p.R66L|ASAH2_ENST00000329428.6_Missense_Mutation_p.R47L	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	66					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	p.R47L(2)|p.R66L(2)		large_intestine(1)|lung(9)|urinary_tract(1)	11						GGCTGTGGAGCGTTGGGCAGC	0.507000													35	66					1.61788e-16	2.03875e-16	0.050027	1	0
OR5K4	403278	broad.mit.edu	37	3	98073318	98073318	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:98073318A>G	ENST00000354924.2	+	1	621	c.621A>G	c.(619-621)caA>caG	p.Q207Q	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	207					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						TACCAATTCAAATCTTTACCA	0.338000													4	75					0	0	0.009096	0	0
ATG2B	55102	broad.mit.edu	37	14	96777950	96777950	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:96777950C>A	ENST00000359933.4	-	27	4812	c.3919G>T	c.(3919-3921)Gtt>Ttt	p.V1307F		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1307								p.V1307F(2)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATCACACGAACATAATCTAAA	0.313000													20	71					1.28384e-07	1.42734e-07	0.062417	1	0
MAGEC3	139081	broad.mit.edu	37	X	140984475	140984475	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:140984475G>T	ENST00000544766.1	+	5	564	c.37G>T	c.(37-39)Gag>Tag	p.E13*	MAGEC3_ENST00000409007.1_Nonsense_Mutation_p.E13*|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Nonsense_Mutation_p.E13*|MAGEC3_ENST00000483584.1_3'UTR	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0								p.E13*(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAGCTTTGAGGAAGACTT	0.542000													135	51					1.05585e-87	1.54142e-87	0.048971	1	0
IL21R	50615	broad.mit.edu	37	16	27456538	27456538	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:27456538C>G	ENST00000337929.3	+	7	1199	c.726C>G	c.(724-726)ctC>ctG	p.L242L	IL21R_ENST00000395755.1_Silent_p.L242L|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395754.4_Silent_p.L242L|IL21R_ENST00000564089.1_Silent_p.L242L	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	242					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.L242L(2)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TGCTTCTCCTCCTGCTTGTCA	0.542000			T	BCL6	NHL								28	69					0	0	0.034045	0	0
OR7A17	26333	broad.mit.edu	37	19	14991871	14991871	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:14991871G>C	ENST00000327462.2	-	1	393	c.297C>G	c.(295-297)acC>acG	p.T99T		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T99T(3)		breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AGCACATCTGGGTGATGCAGC	0.468000													45	50					0	0	0.048971	0	0
OBSCN	84033	broad.mit.edu	37	1	228509331	228509331	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:228509331G>T	ENST00000570156.2	+	66	17734	c.17660G>T	c.(17659-17661)cGc>cTc	p.R5887L	OBSCN_ENST00000422127.1_Missense_Mutation_p.R4930L|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2564L|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2049L|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4930L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4930					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	p.R4930L(2)|p.R5512L(2)|p.R5642L(2)		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)				GTGCGAGCCCGCTGGCTGAAG	0.642000													29	37					3.65163e-15	4.54019e-15	0.030593	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254960	30254960	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:30254960T>G	ENST00000361644.2	+	5	1656	c.919T>G	c.(919-921)Tat>Gat	p.Y307D	MAGEB3_ENST00000378986.1_Missense_Mutation_p.Y307D	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	307	MAGE.							p.Y307V(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CCAGTTCTGGTATGAAGAGGC	0.517000													19	23					0	0	0.049695	0	0
THEMIS	387357	broad.mit.edu	37	6	128134623	128134623	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:128134623T>A	ENST00000368250.1	-	5	1424	c.926A>T	c.(925-927)cAg>cTg	p.Q309L	THEMIS_ENST00000368248.2_Missense_Mutation_p.Q388L|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q388L|THEMIS_ENST00000537166.1_Missense_Mutation_p.Q353L			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	388	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.Q388L(2)		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						CACCAGAAACTGGTCCCCAAC	0.468000													24	82					0	0	0.018920	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736176	140736176	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:140736176C>T	ENST00000571252.1	+	1	1409	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGCCTCCATCTTATCT	0.507000													40	113					0	0	0.027894	0	0
PRKCA	5578	broad.mit.edu	37	17	64800011	64800011	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:64800011C>A	ENST00000413366.3	+	17	1901	c.1875C>A	c.(1873-1875)aaC>aaA	p.N625K		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	625	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.N625K(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GAGCAGAGAACTTTGACAAGT	0.493000													33	133					3.03874e-20	3.95619e-20	0.059317	1	0
PAPPA2	60676	broad.mit.edu	37	1	176564340	176564340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:176564340G>T	ENST00000367662.3	+	3	2764	c.1600G>T	c.(1600-1602)Gat>Tat	p.D534Y	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D534Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	534	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.D534Y(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAACATCTGTGATGATGAGGG	0.527000													54	79					9.52127e-25	1.27291e-24	0.048971	1	0
CLSTN2	64084	broad.mit.edu	37	3	140277665	140277665	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:140277665C>T	ENST00000458420.3	+	12	2197	c.2007C>T	c.(2005-2007)gcC>gcT	p.A669A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	669					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.A669A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCACCTTCGCCAAAACCGAAG	0.532000										HNSCC(16;0.037)			35	89					0	0	0.069456	0	0
TCF12	6938	broad.mit.edu	37	15	57525012	57525012	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:57525012G>A	ENST00000267811.5	+	11	1232	c.928G>A	c.(928-930)Gcc>Acc	p.A310T	TCF12_ENST00000333725.5_Missense_Mutation_p.A310T|TCF12_ENST00000438423.2_Missense_Mutation_p.A310T|TCF12_ENST00000557843.1_Missense_Mutation_p.A310T|TCF12_ENST00000452095.2_Missense_Mutation_p.A306T|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000543579.1_Missense_Mutation_p.A140T|TCF12_ENST00000343827.3_Missense_Mutation_p.A140T|TCF12_ENST00000537840.1_Missense_Mutation_p.A74T	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	310					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.A310T(4)|p.A306T(2)|p.A140T(2)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTACGTTGCTGCCTCACACAC	0.473000			T	TEC	extraskeletal myxoid chondrosarcoma								35	62					0	0	0.074837	0	0
DSPP	1834	broad.mit.edu	37	4	88534203	88534203	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:88534203G>T	ENST00000399271.1	+	4	985	c.865G>T	c.(865-867)Gat>Tat	p.D289Y	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.D289Y	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	289					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.D289Y(2)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TGGGAAAGAAGATGATCATGA	0.428000													17	52					6.94344e-10	8.00589e-10	0.038395	1	0
LAMA5	3911	broad.mit.edu	37	20	60890128	60890128	+	Missense_Mutation	SNP	C	C	T	rs149325805		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:60890128C>T	ENST00000252999.3	-	59	8069	c.8003G>A	c.(8002-8004)cGg>cAg	p.R2668Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2668	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.R2668Q(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCCTGGCCCCGCAGGCCCTC	0.706000													9	40					0	0	0.047766	0	0
C10orf120	399814	broad.mit.edu	37	10	124457832	124457832	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:124457832A>T	ENST00000329446.4	-	3	456	c.425T>A	c.(424-426)aTa>aAa	p.I142K		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	142								p.I142K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TGCTGTCCATATTTTTTCTAG	0.458000													10	173					0	0	0.058154	0	0
RYR3	6263	broad.mit.edu	37	15	33955875	33955875	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:33955875G>A	ENST00000389232.4	+	36	5626	c.5556G>A	c.(5554-5556)ctG>ctA	p.L1852L	RYR3_ENST00000415757.3_Silent_p.L1852L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1852	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L1852L(2)		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)		TGCAGGCCCTGAACATGTCTG	0.567000													5	35					0	0	0.021553	0	0
PXDNL	137902	broad.mit.edu	37	8	52359614	52359614	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:52359614C>T	ENST00000356297.4	-	12	1575	c.1475G>A	c.(1474-1476)aGt>aAt	p.S492N	PXDNL_ENST00000543296.1_Missense_Mutation_p.S492N	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	492	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.S492N(2)		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)				CCCCAACGAACTGACTGCTTG	0.468000													55	215					0	0	0.048971	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104251168	104251168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:104251168G>A	ENST00000202556.9	-	3	523	c.241C>T	c.(241-243)Cga>Tga	p.R81*		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	81					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	p.R81*(2)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCCTCGTGTCGAAGGAAAAAT	0.393000													23	82					0	0	0.069288	0	0
STK32C	282974	broad.mit.edu	37	10	134059451	134059451	+	Missense_Mutation	SNP	C	C	A	rs142282211		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:134059451C>A	ENST00000368625.4	-	2	395	c.310G>T	c.(310-312)Gac>Tac	p.D104Y	STK32C_ENST00000368622.1_5'UTR			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	91	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.D104Y(2)|p.D91Y(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TGGAAGTGGTCGAAGTTCACT	0.637000													22	60					2.98393e-07	3.3076e-07	0.076483	1	0
DEFB112	245915	broad.mit.edu	37	6	50011359	50011359	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:50011359C>T	ENST00000322246.4	-	2	270	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	91					defense response to bacterium	extracellular region		p.D91N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TTATTTGGGTCCGTAGGGTCA	0.413000													25	106					0	0	0.024334	0	0
SLC4A7	9497	broad.mit.edu	37	3	27490147	27490147	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:27490147G>C	ENST00000295736.5	-	3	327	c.257C>G	c.(256-258)tCt>tGt	p.S86C	SLC4A7_ENST00000445684.1_Missense_Mutation_p.S95C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S91C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S95C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S95C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S91C|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S95C|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S91C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S91C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S86C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	86						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.S86C(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CTTACCATAAGAAGGAGATTC	0.353000													17	116					0	0	0.033300	0	0
OR4C3	256144	broad.mit.edu	37	11	48346726	48346726	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:48346726C>T	ENST00000319856.4	+	1	255	c.234C>T	c.(232-234)ccC>ccT	p.P78P		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P78P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCTCCAGCCCCACGCTGGCTT	0.453000													13	197					0	0	0.013537	0	0
RABGAP1	23637	broad.mit.edu	37	9	125782613	125782613	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:125782613A>T	ENST00000373647.4	+	13	1803	c.1669A>T	c.(1669-1671)Aag>Tag	p.K557*		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	557					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	p.K485*(2)|p.K557*(2)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGTGAGACCGAAGCAGTTGTC	0.403000													48	55					0	0	0.048971	0	0
CAPN11	11131	broad.mit.edu	37	6	44140984	44140984	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:44140984G>A	ENST00000542245.1	+	7	730	c.692G>A	c.(691-693)gGg>gAg	p.G231E	CAPN11_ENST00000398776.1_Missense_Mutation_p.G231E			Q9UMQ6	CAN11_HUMAN	calpain 11	231	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.G231E(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	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)			GCATTGTCAGGGGGCAGTACC	0.607000											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	179					0	0	0.048971	0	0
UBR1	197131	broad.mit.edu	37	15	43258422	43258422	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:43258422G>A	ENST00000290650.4	-	41	4598	c.4520C>T	c.(4519-4521)cCt>cTt	p.P1507L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1507					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	p.P1507L(1)		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)		GCGAAGATAAGGGGTGATGCC	0.433000													6	94					0	0	0.021553	0	0
PIGT	51604	broad.mit.edu	37	20	44047576	44047576	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:44047576A>T	ENST00000535404.1	+	3	464	c.86A>T	c.(85-87)cAg>cTg	p.Q29L	PIGT_ENST00000372689.5_Silent_p.T150T|PIGT_ENST00000543458.2_Intron|PIGT_ENST00000279036.6_Silent_p.T150T|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000279035.9_Intron			Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	0					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	p.T150T(4)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCACCAACACAGTCACTCCCA	0.512000													61	168					0	0	0.048971	0	0
SEMA3C	10512	broad.mit.edu	37	7	80387687	80387687	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:80387687C>T	ENST00000265361.3	-	15	2164	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N	SEMA3C_ENST00000419255.2_Missense_Mutation_p.D535N|SEMA3C_ENST00000544525.1_Missense_Mutation_p.D553N	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	535					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						GAATGGCCATCCCAGGCGCAA	0.532000													9	198					0	0	0.047766	0	0
INPP4A	3631	broad.mit.edu	37	2	99193584	99193584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:99193584C>T	ENST00000074304.5	+	25	3172	c.2779C>T	c.(2779-2781)Cag>Tag	p.Q927*	INPP4A_ENST00000409463.1_Nonsense_Mutation_p.Q256*|INPP4A_ENST00000545415.1_Nonsense_Mutation_p.Q888*|INPP4A_ENST00000523221.1_Nonsense_Mutation_p.Q927*|INPP4A_ENST00000409016.3_Nonsense_Mutation_p.Q888*|INPP4A_ENST00000409540.3_Nonsense_Mutation_p.Q888*|INPP4A_ENST00000409851.3_Nonsense_Mutation_p.Q922*	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	927					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.Q888*(2)|p.Q927*(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGTCTTCACCCAGGCCCTGGA	0.662000													26	32					0	0	0.018920	0	0
CSMD2	114784	broad.mit.edu	37	1	34554714	34554714	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:34554714C>A	ENST00000373381.4	-	2	444	c.268G>T	c.(268-270)Gcc>Tcc	p.A90S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	50	CUB 1.					integral to membrane|plasma membrane	protein binding	p.A50S(2)		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)				GTGCAGTTGGCGTAATTGGGG	0.552000													21	56					4.4004e-07	4.84889e-07	0.018920	1	0
BASP1	10409	broad.mit.edu	37	5	17275998	17275998	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:17275998G>A	ENST00000322611.3	+	2	933	c.673G>A	c.(673-675)Gtg>Atg	p.V225M		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	225					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	p.V225M(2)		endometrium(1)|lung(8)	9						AACCGTAACCGTGAAAGAGTG	0.537000													12	60					0	0	0.024245	0	0
HEG1	57493	broad.mit.edu	37	3	124739860	124739860	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:124739860A>T	ENST00000311127.4	-	4	1095	c.1028T>A	c.(1027-1029)cTg>cAg	p.L343Q		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	343						extracellular region|integral to membrane	calcium ion binding	p.L343Q(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CAAAGATCGCAGCGTTCTCGG	0.532000													5	27					0	0	0.021553	0	0
MRPL17	63875	broad.mit.edu	37	11	6704014	6704014	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:6704014G>C	ENST00000288937.6	-	2	311	c.207C>G	c.(205-207)aaC>aaG	p.N69K		NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	69					translation	ribosome	protein domain specific binding|structural constituent of ribosome	p.N69K(2)		lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGCTCGTTCGTTAGTGTCTC	0.512000													18	45					0	0	0.076483	0	0
INPP5A	3632	broad.mit.edu	37	10	134459432	134459432	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:134459432A>C	ENST00000368594.3	+	3	455	c.178A>C	c.(178-180)Aac>Cac	p.N60H	INPP5A_ENST00000368593.3_Missense_Mutation_p.N60H	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	60					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TGGAGGGAAGAACTACGAGGC	0.607000													5	45					0	0	0.021553	0	0
UBTF	7343	broad.mit.edu	37	17	42286812	42286812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:42286812G>A	ENST00000302904.4	-	17	2305	c.1813C>T	c.(1813-1815)Cag>Tag	p.Q605*	UBTF_ENST00000343638.5_Nonsense_Mutation_p.Q568*|UBTF_ENST00000533177.1_Nonsense_Mutation_p.Q568*|UBTF_ENST00000393606.3_Nonsense_Mutation_p.Q568*|UBTF_ENST00000527034.1_Nonsense_Mutation_p.Q568*|UBTF_ENST00000436088.1_Nonsense_Mutation_p.Q605*|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Nonsense_Mutation_p.Q605*|UBTF_ENST00000526094.1_Nonsense_Mutation_p.Q568*			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	605					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	p.Q605*(2)		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)		GAGATGCGCTGCCAGCGACTG	0.587000													22	63					0	0	0.076483	0	0
MSLNL	401827	broad.mit.edu	37	16	819450	819450	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:819450A>C	ENST00000293892.3	-	16	3139	c.3140T>G	c.(3139-3141)cTt>cGt	p.L1047R	MSLNL_ENST00000442466.1_Missense_Mutation_p.L696R			Q96KJ4	MSLNL_HUMAN	mesothelin-like	696					cell adhesion	integral to membrane		p.L1047R(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGTCAGCCCAAGTGGGCGTCC	0.627000													17	91					0	0	0.033300	0	0
AJUBA	84962	broad.mit.edu	37	14	23445718	23445718	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:23445718A>T	ENST00000262713.2	-	4	1561	c.1186T>A	c.(1186-1188)Ttt>Att	p.F396I	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_5'UTR|AJUBA_ENST00000361265.4_Missense_Mutation_p.F396I	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	396	LIM zinc-binding 1.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	p.F396I(2)									GCCTCCTGAAACCCTGAAAAC	0.468000													37	213					0	0	0.069456	0	0
FAM135B	51059	broad.mit.edu	37	8	139268979	139268979	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:139268979T>A	ENST00000395297.1	-	5	491	c.321A>T	c.(319-321)gtA>gtT	p.V107V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	107										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)			GTTGAAAATCTACTTCACTCA	0.438000										HNSCC(54;0.14)			4	64					0	0	0.009096	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098634	78098634	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:78098634G>A	ENST00000370801.3	-	5	881	c.406C>T	c.(406-408)Cct>Tct	p.P136S	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P136S(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GATTTTATAGGAGAATCTTCT	0.383000													89	172					0	0	0.048971	0	0
TIMD4	91937	broad.mit.edu	37	5	156381703	156381703	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:156381703C>G	ENST00000274532.2	-	2	179	c.123G>C	c.(121-123)ctG>ctC	p.L41L	TIMD4_ENST00000407087.3_Silent_p.L41L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	41	Ig-like V-type.					integral to membrane		p.L41L(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGATGAGTACAGACAGGGCA	0.527000													41	50					0	0	0.036044	0	0
CYFIP1	23191	broad.mit.edu	37	15	23000107	23000107	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:23000107G>C	ENST00000313077.7	+	30	3586	c.3461G>C	c.(3460-3462)gGt>gCt	p.G1154A	CYFIP1_ENST00000560848.1_Missense_Mutation_p.G1154A|CYFIP1_ENST00000435939.2_Missense_Mutation_p.G723A	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	1154					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	p.G1154A(2)|p.G723A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CAGTGCTTTGGTGATGGGCTA	0.483000													21	78					0	0	0.018920	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460211	107460211	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:107460211C>G	ENST00000409382.3	-	2	833	c.223G>C	c.(223-225)Gac>Cac	p.D75H	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.D75H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.D75H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	75					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.D75H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGGCGTGCGTCCAGGCCCCCA	0.692000													15	52					0	0	0.020292	0	0
CDC5L	988	broad.mit.edu	37	6	44371547	44371547	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:44371547C>A	ENST00000371477.3	+	6	840	c.539_splice	c.e6-1	p.R181_splice		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	181					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	p.R181S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTTTTCAGACGTCTTGCTGC	0.353000													26	40					1.1804e-14	1.45791e-14	0.021523	1	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928496	32928496	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:32928496A>G	ENST00000361627.3	+	12	2244	c.1522A>G	c.(1522-1524)Act>Gct	p.T508A	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.T319A|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.T319A	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	508					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.T508A(2)		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)		AACCTTACTAACTCCAGAGCG	0.358000													16	86					0	0	0.038395	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586354	15586354	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:15586354A>G	ENST00000292609.4	-	2	1256	c.1127T>C	c.(1126-1128)tTc>tCc	p.F376S	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.F376S			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	376					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.F376S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTCACCCAGGAAGGCCTCAGT	0.562000													110	140					0	0	0.048971	0	0
LIN28A	79727	broad.mit.edu	37	1	26738039	26738039	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:26738039C>T	ENST00000326279.6	+	2	308	c.194C>T	c.(193-195)gCg>gTg	p.A65V	LIN28A_ENST00000254231.4_Missense_Mutation_p.A65V	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	65	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding	p.A65V(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GCCGGGGTCGCGCTCGACCCC	0.647000													43	99					0	0	0.048971	0	0
NRD1	4898	broad.mit.edu	37	1	52301803	52301803	+	Splice_Site	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:52301803T>C	ENST00000354831.7	-	5	1105	c.916_splice	c.e5+1	p.M306_splice	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Splice_Site_p.M238_splice|NRD1_ENST00000544028.1_Splice_Site_p.M106_splice|NRD1_ENST00000539524.1_Splice_Site_p.M174_splice	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	237					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	p.M306V(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AAATTCTTACTGTGCTCCAAA	0.423000													11	19					0	0	0.387290	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249107312	249107312	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:249107312C>A	ENST00000366472.5	-	6	1816	c.587G>T	c.(586-588)cGa>cTa	p.R196L	SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R164L|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	196								p.R196L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCGAGTCACTCGCTGGTGCTC	0.637000													4	8					0.0293803	0.0296855	0.248553	1	0
SPTLC1	10558	broad.mit.edu	37	9	94794786	94794786	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:94794786C>G	ENST00000262554.2	-	15	1388	c.1383G>C	c.(1381-1383)gcG>gcC	p.A461A		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	461						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.A461A(2)		breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGATGGTGGACGCAGCTCTCT	0.567000													9	49					0	0	0.387290	0	0
ANKRD20A19P	400110	broad.mit.edu	37	13	24515869	24515869	+	RNA	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:24515869G>A	ENST00000442969.1	-	0	1043																											CAGGCCAAATGTAGAGCAGTT	0.408000													10	111					0	0	0.387290	0	0
WIPF3	644150	broad.mit.edu	37	7	29928925	29928925	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:29928925A>T	ENST00000409290.1	+	6	1253	c.1253A>T	c.(1252-1254)gAc>gTc	p.D418V	WIPF3_ENST00000409123.1_Missense_Mutation_p.D418V|WIPF3_ENST00000242140.5_Missense_Mutation_p.D418V	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	418								p.D418V(2)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						TGTGCAGATGACTTCGAGTCT	0.443000													13	24					0	0	0.411799	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26431814	26431814	+	RNA	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:26431814C>A	ENST00000466808.2	+	0	1762																		p.P578T(2)									ACTAGTTGTTCCACAGCTCCC	0.483000													123	270					1.0372e-43	1.45636e-43	0.870114	1	0
CYP3A4	1576	broad.mit.edu	37	7	99358457	99358457	+	Silent	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:99358457A>C	ENST00000354593.2	-	7	1054	c.951T>G	c.(949-951)ccT>ccG	p.P317P	CYP3A4_ENST00000336411.2_Silent_p.P467P			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	467					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	p.P467P(1)		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)	TTTCTTTACAAGGTTTGAAGG	0.338000													91	82					0	0	0.870114	0	0
AFTPH	54812	broad.mit.edu	37	2	64808353	64808353	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:64808353G>C	ENST00000422803.1	+	8	2799	c.2485G>C	c.(2485-2487)Gat>Cat	p.D829H	AFTPH_ENST00000238855.7_Missense_Mutation_p.D829H|AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000238856.4_Intron|AFTPH_ENST00000409933.1_Missense_Mutation_p.D829H|AFTPH_ENST00000409183.1_Missense_Mutation_p.D460H			Q6ULP2	AFTIN_HUMAN	aftiphilin	829	Clathrin-binding (Potential).				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	p.D829H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TCTGAACCTTGATTTCTTTGG	0.478000													6	20					0	0	0.248553	0	0
PIK3R5	23533	broad.mit.edu	37	17	8784284	8784284	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:8784284G>A	ENST00000447110.1	-	18	2557	c.2433C>T	c.(2431-2433)aaC>aaT	p.N811N	PIK3R5_ENST00000581552.1_Silent_p.N811N|PIK3R5_ENST00000584803.1_Silent_p.N810N	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	811					platelet activation	cytosol|membrane|nucleus		p.N811N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGGGGCAGCTGTTGGAGCCGA	0.562000													46	131					0	0	0.870114	0	0
HK1	3098	broad.mit.edu	37	10	71075716	71075716	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:71075716C>T	ENST00000298649.3	+	1	107	c.6C>T	c.(4-6)gaC>gaT	p.D2D	HK1_ENST00000360289.2_Intron|HK1_ENST00000448642.2_Intron|HK1_ENST00000404387.2_Intron	NM_033496.2	NP_277031.1	P19367	HXK1_HUMAN	hexokinase 1	0	Hydrophobic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.D2D(2)		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						TCCAGATGGACTGTGAGCACA	0.562000													9	70					0	0	0.361761	0	0
COL2A1	1280	broad.mit.edu	37	12	48376677	48376677	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:48376677T>C	ENST00000380518.3	-	33	2311	c.2147A>G	c.(2146-2148)cAg>cGg	p.Q716R	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.Q647R	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	716	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.Q716R(2)|p.Q647R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACGGGGACCCTGGAGGCCCTG	0.627000													16	23					0	0	0.557998	0	0
PTPRD	5789	broad.mit.edu	37	9	8486043	8486043	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:8486043A>T	ENST00000381196.4	-	25	3317	c.2774T>A	c.(2773-2775)cTt>cAt	p.L925H	PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.L912H|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.L903H|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.L925H|PTPRD_ENST00000540109.1_Missense_Mutation_p.L925H|PTPRD_ENST00000537002.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	925	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L925H(2)		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)		TTCTGAGTGAAGGTTTTGAGG	0.478000										TSP Lung(15;0.13)			12	51					0	0	0.457914	0	0
SPATA18	132671	broad.mit.edu	37	4	52943162	52943162	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:52943162G>T	ENST00000295213.4	+	7	1350	c.976G>T	c.(976-978)Gac>Tac	p.D326Y	SPATA18_ENST00000419395.2_Missense_Mutation_p.D294Y	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	326					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.D326Y(4)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCGCTGCATCGACAAGGCTGA	0.637000													8	70					7.48243e-07	8.25856e-07	0.335167	1	0
PRELP	5549	broad.mit.edu	37	1	203452913	203452913	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:203452913G>T	ENST00000343110.2	+	2	728	c.601G>T	c.(601-603)Gat>Tat	p.D201Y		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	201	Poly-Leu.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.D201Y(3)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTGCTCCTGGATCTCCAGCA	0.607000													27	312					1.33986e-20	1.74131e-20	0.681144	1	0
MYH7	4625	broad.mit.edu	37	14	23884664	23884664	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:23884664G>C	ENST00000355349.3	-	36	5371	c.5209C>G	c.(5209-5211)Ctc>Gtc	p.L1737V	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1737					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1737V(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCAGTCTGGAGCTGGGACAGG	0.562000													7	107					0	0	0.278610	0	0
EDN2	1907	broad.mit.edu	37	1	41948217	41948217	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:41948217C>T	ENST00000372587.4	-	3	333	c.264G>A	c.(262-264)cgG>cgA	p.R88R	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	88					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity	p.R88R(2)		endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGAGCGGCGCCGGCGTCTTG	0.662000													7	4					0	0	0.278610	0	0
ZIC4	84107	broad.mit.edu	37	3	147108987	147108987	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:147108987G>T	ENST00000383075.3	-	4	1247	c.735C>A	c.(733-735)ttC>ttA	p.F245L	ZIC4_ENST00000491672.1_Missense_Mutation_p.F39L|ZIC4_ENST00000473123.1_Missense_Mutation_p.F245L|ZIC4_ENST00000484399.1_Missense_Mutation_p.F245L|ZIC4_ENST00000525172.2_Missense_Mutation_p.F295L|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.F283L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	245						nucleus	DNA binding|zinc ion binding	p.F245L(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGCTGTTGGCGAAGCGCCGCT	0.612000													22	53					2.25008e-27	3.03427e-27	0.654019	1	0
PCLO	27445	broad.mit.edu	37	7	82544499	82544499	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:82544499C>G	ENST00000423517.2	-	7	13140	c.12803G>C	c.(12802-12804)gGa>gCa	p.G4268A	PCLO_ENST00000437081.1_Missense_Mutation_p.G988A|PCLO_ENST00000333891.8_Missense_Mutation_p.G4268A	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4199	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G4268A(4)		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						TATGGTATTTCCTAATGTGCC	0.468000													3	13					0	0	0.150653	0	0
FBLN1	2192	broad.mit.edu	37	22	45958897	45958897	+	Silent	SNP	G	G	A	rs138959755	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:45958897G>A	ENST00000402984.3	+	16	2020	c.1917G>A	c.(1915-1917)gcG>gcA	p.A639A	FBLN1_ENST00000262722.7_Silent_p.A601A|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000442170.2_Intron			P23142	FBLN1_HUMAN	fibulin 1	614					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	p.A601A(1)		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)		AAGCGCCCGCGGTGGTTTTCC	0.612000													5	21					0	0	0.184627	0	0
XIRP2	129446	broad.mit.edu	37	2	168100642	168100642	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:168100642T>C	ENST00000409195.1	+	9	2829	c.2740T>C	c.(2740-2742)Tgg>Cgg	p.W914R	XIRP2_ENST00000295237.9_Missense_Mutation_p.W914R|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.W692R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	739					actin cytoskeleton organization	cell junction	actin binding	p.W914R(2)		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						GCATCAAAAATGGATTTTTGA	0.368000													21	31					0	0	0.624587	0	0
ALK	238	broad.mit.edu	37	2	29519878	29519878	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:29519878A>G	ENST00000389048.3	-	9	2599	c.1693T>C	c.(1693-1695)Tcc>Ccc	p.S565P	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	565	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.S565P(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGCACCAAGGACACGTTTCCC	0.547000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				28	195					0	0	0.750413	0	0
BHMT	635	broad.mit.edu	37	5	78426781	78426781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:78426781C>A	ENST00000274353.5	+	8	1170	c.1063C>A	c.(1063-1065)Ctt>Att	p.L355I	BHMT_ENST00000524080.1_Missense_Mutation_p.L202I|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	355					protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.L355I(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CTGGGAGAATCTTCGGATAGC	0.502000													60	239					3.61411e-23	4.77905e-23	0.870114	1	0
PCDHGC4	56098	broad.mit.edu	37	5	140865837	140865837	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:140865837G>T	ENST00000306593.1	+	1	1097	c.1097G>T	c.(1096-1098)gGc>gTc	p.G366V	PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1												p.G366V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGAACCTGGCACTGTGGTG	0.542000													7	110					0.0293803	0.0296855	0.248553	1	0
WDR16	146845	broad.mit.edu	37	17	9532031	9532031	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:9532031C>G	ENST00000352665.5	+	9	1137	c.1068C>G	c.(1066-1068)atC>atG	p.I356M	WDR16_ENST00000299764.5_Missense_Mutation_p.I366M|WDR16_ENST00000396219.3_Missense_Mutation_p.I288M	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	356						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.I356M(1)		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						AGAAGGATATCAGGGTGTGGC	0.517000													7	87					0	0	0.248553	0	0
PIWIL4	143689	broad.mit.edu	37	11	94322291	94322291	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:94322291A>G	ENST00000299001.6	+	8	1130	c.919A>G	c.(919-921)Aat>Gat	p.N307D	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	307	PAZ.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	p.N307D(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGGCAGATACAATAACAGAAC	0.378000													62	234					0	0	0.870114	0	0
HOXB1	3211	broad.mit.edu	37	17	46607116	46607116	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:46607116C>A	ENST00000239174.6	-	2	791	c.699G>T	c.(697-699)agG>agT	p.R233S	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	233						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.R233S(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAATCTCCACCCTCCGGGCCC	0.567000													28	166					6.00712e-18	7.68957e-18	0.760397	1	0
COL6A6	131873	broad.mit.edu	37	3	130287011	130287011	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:130287011G>C	ENST00000358511.6	+	5	1995	c.1964G>C	c.(1963-1965)gGa>gCa	p.G655A	COL6A6_ENST00000453409.2_Missense_Mutation_p.G655A	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	655	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen		p.G655A(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCTCAGATTGGACCAGATCGG	0.418000													46	278					0	0	0.870114	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059650	11059650	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:11059650T>A	ENST00000287766.4	+	4	781	c.360T>A	c.(358-360)ccT>ccA	p.P120P	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	120					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P120P(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	AGCTGGCTCCTATGTTCAAGG	0.612000													79	167					0	0	0.870114	0	0
OR7A10	390892	broad.mit.edu	37	19	14952191	14952191	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:14952191G>C	ENST00000248058.1	-	1	498	c.499C>G	c.(499-501)Ccc>Gcc	p.P167A		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167A(2)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GTACAAAAGGGCAGTGGCAAC	0.428000													73	73					0	0	0.870114	0	0
CGN	57530	broad.mit.edu	37	1	151497319	151497319	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:151497319G>A	ENST00000271636.7	+	8	1704	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	518	Glu-rich.					myosin complex|tight junction	actin binding|motor activity	p.R524Q(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGTACCAGCGAGACACAGAG	0.622000													7	60					0	0	0.335167	0	0
FOXA3	3171	broad.mit.edu	37	19	46376130	46376130	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:46376130A>T	ENST00000302177.2	+	2	1064	c.867A>T	c.(865-867)ccA>ccT	p.P289P		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	289					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding	p.P289P(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TGGAGCTCCCAGGGGAGCTGA	0.607000													28	29					0	0	0.769981	0	0
FRMPD3	84443	broad.mit.edu	37	X	106843773	106843773	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:106843773G>T	ENST00000276185.4	+	16	2603	c.2603G>T	c.(2602-2604)cGc>cTc	p.R868L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	868						cytoskeleton		p.R917L(2)|p.R868L(2)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TCTCTTGGGCGCCCGGATCCC	0.652000													19	8					2.41591e-17	3.08097e-17	0.681144	1	0
LAMC2	3918	broad.mit.edu	37	1	183189974	183189974	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:183189974A>T	ENST00000264144.4	+	5	583	c.518A>T	c.(517-519)tAc>tTc	p.Y173F	LAMC2_ENST00000493293.1_Missense_Mutation_p.Y173F	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	173	Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.Y173F(2)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CGATCAGGTTACTATAATCTG	0.443000													18	40					0	0	0.575678	0	0
SDK2	54549	broad.mit.edu	37	17	71394318	71394318	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:71394318G>T	ENST00000392650.3	-	24	3210	c.3210C>A	c.(3208-3210)cgC>cgA	p.R1070R	SDK2_ENST00000388726.3_Silent_p.R1070R	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1070	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.R1070R(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCTGGCGCATGCGGAAGCTGG	0.627000													5	25					1.024e-07	1.14695e-07	0.184627	1	0
DPEP2	64174	broad.mit.edu	37	16	68026508	68026508	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:68026508C>A	ENST00000412757.2	-	4	960	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	DPEP2_ENST00000393847.1_Missense_Mutation_p.V99F|DPEP2_ENST00000572888.1_Missense_Mutation_p.V99F			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	99					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.V99F(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TTCTGGTAAACCTGCCTTAGG	0.582000													10	35					9.70103e-10	1.11973e-09	0.361761	1	0
LIG1	3978	broad.mit.edu	37	19	48620931	48620931	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:48620931G>A	ENST00000263274.7	-	26	2966	c.2547C>T	c.(2545-2547)ctC>ctT	p.L849L	LIG1_ENST00000536218.1_Silent_p.L781L|LIG1_ENST00000427526.2_Silent_p.L818L	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	849					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|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	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.L849L(2)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GAGAGAGGGAGAGGTCAGCGC	0.662000								Nucleotide excision repair (NER)					4	10					0	0	0.150653	0	0
C15orf26	161502	broad.mit.edu	37	15	81428997	81428997	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:81428997G>A	ENST00000286732.4	+	3	383	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	100								p.Q100Q(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						ATGAAATTCAGTCCCATCTGA	0.468000													27	182					0	0	0.717897	0	0
MACF1	23499	broad.mit.edu	37	1	39765882	39765882	+	Splice_Site	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:39765882G>C	ENST00000564288.1	+	22	3259	c.2481_splice	c.e22-1	p.D828_splice	MACF1_ENST00000539005.1_Splice_Site_p.D833_splice|MACF1_ENST00000545844.1_Splice_Site_p.D833_splice|MACF1_ENST00000317713.7_Splice_Site_p.D833_splice|MACF1_ENST00000372915.3_Splice_Site_p.D833_splice|MACF1_ENST00000567887.1_Splice_Site_p.D865_splice|MACF1_ENST00000361689.2_Splice_Site_p.D833_splice			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	833					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	p.D833H(2)		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)			CATTTTGTAGGATGAAAAGGA	0.418000													36	331					0	0	0.853193	0	0
CCDC170	80129	broad.mit.edu	37	6	151894422	151894422	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:151894422C>A	ENST00000367290.5	+	6	977	c.888C>A	c.(886-888)agC>agA	p.S296R	CCDC170_ENST00000239374.7_Missense_Mutation_p.S296R			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	296								p.S296R(2)									AGGAAGTGAGCCTCCTGAAGA	0.473000													30	46					4.4194e-11	5.20694e-11	0.769981	1	0
MAEL	84944	broad.mit.edu	37	1	166973415	166973415	+	Splice_Site	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:166973415A>G	ENST00000367872.4	+	6	767		c.e6-1		MAEL_ENST00000367870.2_Splice_Site|MAEL_ENST00000491055.1_Splice_Site	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer						cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	p.?(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TATTTCCCTCAGGTGATTCTA	0.378000													28	167					0	0	0.729181	0	0
MAS1	4142	broad.mit.edu	37	6	160328002	160328002	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:160328002C>G	ENST00000252660.4	+	1	29	c.15C>G	c.(13-15)aaC>aaG	p.N5K		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	5					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	p.N5K(1)		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)		ATGGGTCAAACGTGACATCAT	0.458000													7	149					0	0	0.278610	0	0
LMAN1	3998	broad.mit.edu	37	18	57026338	57026338	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:57026338C>G	ENST00000251047.5	-	1	856	c.139G>C	c.(139-141)Gag>Cag	p.E47Q		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	47	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	p.E47Q(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TATTTGTACTCGAAACGGCGA	0.687000													29	74					0	0	0.760397	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157686	65157686	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:65157686G>T	ENST00000323544.4	+	6	1200	c.1072G>T	c.(1072-1074)Gct>Tct	p.A358S	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	358	Pro-rich.							p.A358S(2)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCCTCTCAGGCTGAGGGCAC	0.617000													13	49					1.49906e-05	1.61019e-05	0.457914	1	0
METTL18	92342	broad.mit.edu	37	1	169761944	169761944	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:169761944T>C	ENST00000310392.4	-	2	1246	c.893A>G	c.(892-894)aAc>aGc	p.N298S	METTL18_ENST00000303469.2_Missense_Mutation_p.N298S|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	298						cytoplasm	protein methyltransferase activity	p.N298S(2)		kidney(1)|large_intestine(3)|lung(4)	8						ATAATCTGGGTTGTAAATGGT	0.343000													7	29					0	0	0.307466	0	0
MMS22L	253714	broad.mit.edu	37	6	97597755	97597755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:97597755C>T	ENST00000275053.4	-	24	3889	c.3624G>A	c.(3622-3624)tgG>tgA	p.W1208*	MMS22L_ENST00000369251.2_Nonsense_Mutation_p.W1168*	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1208					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	p.W1208*(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGCCAAGGCCCCATTTCTGCT	0.363000													10	63					0	0	0.411799	0	0
IL18BP	10068	broad.mit.edu	37	11	71712876	71712876	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:71712876C>A	ENST00000404792.1	+	5	1476	c.554C>A	c.(553-555)tCc>tAc	p.S185Y	IL18BP_ENST00000393705.4_Missense_Mutation_p.S185Y|IL18BP_ENST00000393707.4_Silent_p.L94L|IL18BP_ENST00000497194.2_3'UTR|IL18BP_ENST00000393703.4_Missense_Mutation_p.S185Y|IL18BP_ENST00000260049.5_Missense_Mutation_p.S185Y|IL18BP_ENST00000337131.5_Missense_Mutation_p.S185Y	NM_005699.3|NM_173042.2	NP_005690.2|NP_766630.2	O95998	I18BP_HUMAN	interleukin 18 binding protein	185					T-helper 1 type immune response	extracellular region	interleukin-18 binding|receptor antagonist activity	p.S185Y(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GCCCTGCCCTCCAGCCACAGC	0.597000													5	30					0.00116845	0.00121297	0.217242	1	0
GBP3	2635	broad.mit.edu	37	1	89481019	89481019	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:89481019T>G	ENST00000370481.4	-	3	489	c.269A>C	c.(268-270)gAa>gCa	p.E90A	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	90						integral to membrane	GTP binding|GTPase activity	p.E90A(2)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TAAGGTGTGTTCTGGCTTTTT	0.458000													30	277					0	0	0.760397	0	0
MAP3K19	80122	broad.mit.edu	37	2	135781097	135781097	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:135781097C>A	ENST00000392915.1	-	1	122	c.3G>T	c.(1-3)atG>atT	p.M1I	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR					mitogen-activated protein kinase kinase kinase 19																		AATGTGCTcccattttgttgg	0.453000													7	33					0.411799	0.413012	0.411799	1	0
SPINK7	84651	broad.mit.edu	37	5	147693664	147693664	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:147693664T>A	ENST00000523535.1	+	1	28	c.11T>A	c.(10-12)gTg>gAg	p.V4E	SPINK7_ENST00000274565.4_Splice_Site_p.V30_splice|SPINK7_ENST00000514394.1_3'UTR|RP11-373N22.3_ENST00000501695.3_RNA			P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)	30						extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.V30E(2)		large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACACAGGTGGACTGCAGC	0.468000													155	256					0	0	0.870114	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123802	26123802	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:26123802C>G	ENST00000314332.5	-	1	336	c.331G>C	c.(331-333)Gcc>Ccc	p.A111P	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.A111P			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	111					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.A111P(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						TCCGACACGGCGTGCTTGGCC	0.587000													60	174					0	0	0.870114	0	0
CBLB	868	broad.mit.edu	37	3	105378032	105378032	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:105378032G>A	ENST00000264122.4	-	19	3052	c.2731C>T	c.(2731-2733)Cgc>Tgc	p.R911C	CBLB_ENST00000407712.1_Missense_Mutation_p.R126C|CBLB_ENST00000394027.3_Missense_Mutation_p.R889C	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	911	Interaction with SH3KBP1.|Pro-rich.			R -> C (in Ref. 7; CAH56175).	cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	p.R911C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GCAGTCCTGCGCGGTCGTGGT	0.453000			Mis S		AML								5	55					0	0	0.248553	0	0
IL2	3558	broad.mit.edu	37	4	123372977	123372977	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:123372977G>T	ENST00000226730.4	-	4	676	c.392C>A	c.(391-393)aCa>aAa	p.T131K		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	131					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	p.T131K(1)		endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		AATGGTTGCTGTCTCATCAGC	0.313000			T	TNFRSF17	intestinal T-cell lymphoma								12	40					1.52009e-12	1.82894e-12	0.479597	1	0
LTBP2	4053	broad.mit.edu	37	14	74975375	74975375	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:74975375C>T	ENST00000261978.4	-	24	3970	c.3584G>A	c.(3583-3585)aGc>aAc	p.S1195N	LTBP2_ENST00000556690.1_Missense_Mutation_p.S1195N	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1195	Cys-rich.|EGF-like 12; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.S1195N(3)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGACCCGTGGCTGTTGAGGCA	0.632000													4	32					0	0	0.184627	0	0
ZC3H18	124245	broad.mit.edu	37	16	88653008	88653008	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:88653008G>T	ENST00000301011.5	+	3	804	c.603_splice	c.e3-1	p.D202_splice	ZC3H18_ENST00000452588.2_Splice_Site_p.D202_splice	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	202	Poly-Asp.					nucleus	nucleic acid binding|zinc ion binding	p.D202Y(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCTGTTTCAGGATGATGACCT	0.537000													9	32					0.00829132	0.00846535	0.361761	1	0
ANKFN1	162282	broad.mit.edu	37	17	54403587	54403587	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:54403587G>A	ENST00000566473.2	+	3	68	c.68G>A	c.(67-69)gGa>gAa	p.G23E	ANKFN1_ENST00000318698.2_Missense_Mutation_p.G23E			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	23								p.G23E(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CACAGAATAGGAAGGAGATTC	0.398000													78	178					0	0	0.870114	0	0
DPP6	1804	broad.mit.edu	37	7	154379601	154379601	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:154379601T>G	ENST00000406326.1	+	6	1272	c.869T>G	c.(868-870)cTg>cGg	p.L290R	DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.L290R(2)		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)			AGACCCTGGCTGGAGGATTGC	0.567000													85	184					0	0	0.870114	0	0
ANK3	288	broad.mit.edu	37	10	61874084	61874084	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:61874084T>C	ENST00000280772.1	-	26	3038	c.2847A>G	c.(2845-2847)ctA>ctG	p.L949L	ANK3_ENST00000503366.1_Silent_p.L950L|ANK3_ENST00000373827.2_Silent_p.L943L|ANK3_ENST00000355288.2_Silent_p.L83L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	949					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.L949L(2)|p.L584L(2)|p.L83L(2)		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						TTGTGAATGTTAGATGCTGAA	0.328000													11	70					0	0	0.361761	0	0
PIGO	84720	broad.mit.edu	37	9	35092310	35092310	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:35092310A>C	ENST00000378617.3	-	7	1968	c.1574T>G	c.(1573-1575)tTt>tGt	p.F525C	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.F525C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	525					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.F525C(2)		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)			TTTCCACAGAAAAGGGAGGAA	0.582000													39	29					0	0	0.847076	0	0
RTN4	57142	broad.mit.edu	37	2	55253716	55253716	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:55253716C>T	ENST00000337526.6	-	3	1762	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.E301K|RTN4_ENST00000357376.3_Missense_Mutation_p.E301K|RTN4_ENST00000405240.1_Missense_Mutation_p.E301K|RTN4_ENST00000354474.6_Missense_Mutation_p.E275K|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.E301K	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	507					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	p.E301K(2)|p.E507K(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GTATTCTTCTCTGTTACTATT	0.353000													21	90					0	0	0.654019	0	0
FAR2	55711	broad.mit.edu	37	12	29486613	29486613	+	Silent	SNP	C	C	T	rs142204438	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:29486613C>T	ENST00000182377.4	+	12	1702	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	FAR2_ENST00000547116.1_Silent_p.A381A|FAR2_ENST00000536681.2_Silent_p.A478A	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	478					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	p.A478A(2)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TCCTTATCGCCTGGCGCCTTC	0.438000													61	235					0	0	0.870114	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88885469	88885469	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:88885469C>G	ENST00000303236.3	-	9	1841	c.1540G>C	c.(1540-1542)Gat>Cat	p.D514H	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D363H	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	514					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	p.D514H(2)		ovary(3)	3						AGAACAGGATCCTTTTTGCGG	0.398000													99	160					0	0	0.870114	0	0
OR10T2	128360	broad.mit.edu	37	1	158368853	158368853	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:158368853A>C	ENST00000334438.1	-	1	403	c.404T>G	c.(403-405)cTc>cGc	p.L135R		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L135R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GTTTATGATGAGTGTGTACCT	0.463000													29	141					0	0	0.760397	0	0
FMN2	56776	broad.mit.edu	37	1	240493928	240493928	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:240493928T>C	ENST00000319653.9	+	11	4693	c.4463T>C	c.(4462-4464)aTg>aCg	p.M1488T	FMN2_ENST00000545751.1_Missense_Mutation_p.M84T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1488	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	p.M1631T(2)		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)			CCAGGGGTTATGCAGGTTCTA	0.383000													58	75					0	0	0.870114	0	0
BPIFB3	359710	broad.mit.edu	37	20	31661396	31661396	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:31661396G>T	ENST00000375494.3	+	15	1416	c.1416G>T	c.(1414-1416)ctG>ctT	p.L472L		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	472					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	p.L472L(2)									CTGTTGTGCTGACCGTGGCAT	0.557000													141	311					6.78245e-106	9.86933e-106	0.870114	1	0
WNT10B	7480	broad.mit.edu	37	12	49362003	49362003	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:49362003C>A	ENST00000301061.4	-	4	785	c.437G>T	c.(436-438)tGt>tTt	p.C146F	WNT10B_ENST00000403957.1_Missense_Mutation_p.C146F|WNT10B_ENST00000407467.1_Missense_Mutation_p.C146F	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	146					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.C146F(2)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CTTCCAGCCACAGCCACAGCT	0.622000													24	29					6.38683e-12	7.6039e-12	0.729181	1	0
PLA2G2A	5320	broad.mit.edu	37	1	20304613	20304613	+	Splice_Site	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:20304613A>T	ENST00000375111.3	-	5	458	c.185_splice	c.e5-1	p.C63_splice	PLA2G2A_ENST00000400520.3_Splice_Site_p.C63_splice|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	63					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	p.C63S(2)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACACAGCAGCTGTGAGGA	0.562000													62	160					0	0	0.870114	0	0
NMS	129521	broad.mit.edu	37	2	101093874	101093874	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:101093874G>A	ENST00000376865.1	+	5	266	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	87					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		p.G87R(2)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						AGTTAAAACTGGGGTCAGTAT	0.383000													12	38					0	0	0.479597	0	0
OR52B2	255725	broad.mit.edu	37	11	6190952	6190952	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:6190952A>G	ENST00000530810.1	-	1	686	c.605T>C	c.(604-606)tTc>tCc	p.F202S	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F202S(4)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCACTGAGAAGCCATACCA	0.488000													97	204					0	0	0.870114	0	0
DNAH8	1769	broad.mit.edu	37	6	38867598	38867598	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:38867598G>T	ENST00000359357.3	+	60	8713	c.8459G>T	c.(8458-8460)gGt>gTt	p.G2820V	DNAH8_ENST00000441566.1_Missense_Mutation_p.G2784V|DNAH8_ENST00000449981.2_Missense_Mutation_p.G3037V					dynein, axonemal, heavy chain 8									p.G2820V(4)		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						TTGCTGGTGGGTGTTGGTGGT	0.353000													11	75					1.5842e-08	1.80107e-08	0.435327	1	0
OR6A2	8590	broad.mit.edu	37	11	6816486	6816486	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:6816486C>A	ENST00000332601.3	-	1	642	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152C(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCCAAGAGCCAGCAGCCATC	0.502000													73	76					2.6465e-34	3.65572e-34	0.870114	1	0
USP54	159195	broad.mit.edu	37	10	75289573	75289573	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:75289573C>G	ENST00000339859.4	-	14	2025	c.1925G>C	c.(1924-1926)cGg>cCg	p.R642P	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.R492P|USP54_ENST00000319786.7_Missense_Mutation_p.R642P|USP54_ENST00000408019.1_Missense_Mutation_p.R642P			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	642					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.R642P(2)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGAGCCTGGCCGTGCTGGGCC	0.522000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	133					0	0	0.864702	0	0
TTC7A	57217	broad.mit.edu	37	2	47256495	47256495	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:47256495G>T	ENST00000319190.5	+	15	2142	c.1774G>T	c.(1774-1776)Gcc>Tcc	p.A592S	TTC7A_ENST00000263737.6_Missense_Mutation_p.A238S|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.A558S|TTC7A_ENST00000394850.2_Missense_Mutation_p.A592S	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	592							binding	p.M591_A592>IS(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGTCAACATGGCCATCACCGA	0.617000													11	39					0.000151284	0.000159976	0.435327	1	0
EMILIN3	90187	broad.mit.edu	37	20	39990391	39990391	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:39990391G>T	ENST00000332312.3	-	4	2010	c.1818C>A	c.(1816-1818)agC>agA	p.S606R		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	606						proteinaceous extracellular matrix		p.S606R(2)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CAGAGTACTGGCTGACAGAGT	0.582000													26	40					7.01153e-11	8.20422e-11	0.717897	1	0
FCRLB	127943	broad.mit.edu	37	1	161692781	161692781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:161692781C>A	ENST00000367948.2	+	4	249	c.34C>A	c.(34-36)Cca>Aca	p.P12T	FCRLB_ENST00000336830.5_Missense_Mutation_p.P12T|FCRLB_ENST00000367945.1_Intron|FCRLB_ENST00000392158.1_Missense_Mutation_p.P12T|FCRLB_ENST00000367944.3_Intron|FCRLB_ENST00000367946.3_Missense_Mutation_p.P12T			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	12						endoplasmic reticulum		p.P12T(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TTCTGCAGTTCCAAGCAGTGG	0.458000													47	108					5.2118e-15	6.39502e-15	0.870114	1	0
KCNC2	3747	broad.mit.edu	37	12	75444633	75444633	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:75444633C>A	ENST00000549446.1	-	3	1832	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	KCNC2_ENST00000540018.1_Silent_p.L384L|KCNC2_ENST00000350228.2_Silent_p.L384L|KCNC2_ENST00000298972.1_Silent_p.L384L|KCNC2_ENST00000548513.1_Silent_p.L384L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Silent_p.L384L|KCNC2_ENST00000550433.1_Silent_p.L384L|KCNC2_ENST00000393288.2_Silent_p.L384L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	384					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.L384L(4)		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						AAATTATCAGCAGCAAAAATT	0.453000													6	20					0.0381472	0.0384863	0.278610	1	0
WNK1	65125	broad.mit.edu	37	12	970256	970256	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:970256G>C	ENST00000537687.1	+	7	2341	c.1698G>C	c.(1696-1698)aaG>aaC	p.K566N	WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000530271.2_Missense_Mutation_p.K566N|WNK1_ENST00000340908.4_Missense_Mutation_p.K159N|WNK1_ENST00000315939.6_Missense_Mutation_p.K566N|WNK1_ENST00000535572.1_Missense_Mutation_p.K566N	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	566					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.K566N(4)		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)			CATTAATTAAGAGGAAACGAG	0.433000													46	277					0	0	0.870114	0	0
MCHR2	84539	broad.mit.edu	37	6	100395759	100395759	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:100395759G>A	ENST00000281806.2	-	3	585	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	MCHR2_ENST00000369212.1_Missense_Mutation_p.H91Y|MCHR2_ENST00000445970.1_Missense_Mutation_p.H91Y	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	91						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H91Y(2)		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)		GCCCATTGGTGAATAAGAAAA	0.483000													13	93					0	0	0.457914	0	0
RGL1	23179	broad.mit.edu	37	1	183885633	183885633	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:183885633C>T	ENST00000304685.3	+	17	2368	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	RGL1_ENST00000539189.1_Missense_Mutation_p.S572F|RGL1_ENST00000536277.1_Missense_Mutation_p.S599F|RGL1_ENST00000367531.1_Missense_Mutation_p.S636F|RGL1_ENST00000360851.3_Missense_Mutation_p.S601F	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	601					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	p.S636F(2)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GACACAAATTCCTCAGGGATG	0.507000													31	185					0	0	0.750413	0	0
PCDH15	65217	broad.mit.edu	37	10	55591271	55591271	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:55591271C>A	ENST00000373965.2	-	31	4421	c.4027G>T	c.(4027-4029)Gat>Tat	p.D1343Y	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1336Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1299Y|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1265Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1314Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1343Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1341Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1336Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1336Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.D1336Y|PCDH15_ENST00000409834.1_Missense_Mutation_p.D947Y	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1336					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D1336Y(4)|p.D1341Y(4)		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)				TTATTGATATCAAGTAGTTTG	0.353000										HNSCC(58;0.16)			21	30					6.36457e-07	7.0476e-07	0.667858	1	0
RXFP3	51289	broad.mit.edu	37	5	33937437	33937437	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:33937437C>A	ENST00000330120.3	+	1	947	c.592C>A	c.(592-594)Cgg>Agg	p.R198R		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	198						integral to plasma membrane	N-formyl peptide receptor activity	p.R198R(2)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						AGGACACGGCCGGGGCGACTG	0.672000													11	11					0.000219431	0.00023132	0.457914	1	0
NUMB	8650	broad.mit.edu	37	14	73743882	73743882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:73743882G>A	ENST00000556772.1	-	7	3215	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	NUMB_ENST00000544991.3_Nonsense_Mutation_p.Q259*|NUMB_ENST00000535282.1_Nonsense_Mutation_p.Q443*|NUMB_ENST00000356296.4_Nonsense_Mutation_p.Q406*|NUMB_ENST00000454166.4_Nonsense_Mutation_p.Q308*|NUMB_ENST00000560335.1_Nonsense_Mutation_p.Q308*|NUMB_ENST00000559312.1_Nonsense_Mutation_p.Q259*|NUMB_ENST00000557597.1_Nonsense_Mutation_p.Q443*|NUMB_ENST00000555738.2_Nonsense_Mutation_p.Q297*|NUMB_ENST00000355058.3_Nonsense_Mutation_p.Q454*|NUMB_ENST00000555394.1_Nonsense_Mutation_p.Q406*|NUMB_ENST00000555238.1_Nonsense_Mutation_p.Q454*|NUMB_ENST00000359560.3_Nonsense_Mutation_p.Q443*|NUMB_ENST00000554521.2_Nonsense_Mutation_p.Q248*|NUMB_ENST00000554546.1_Nonsense_Mutation_p.Q395*			P49757	NUMB_HUMAN	numb homolog (Drosophila)	454					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		p.Q454*(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TGGGGCTGCTGAGCCCGGACG	0.602000													3	12					0	0	0.115264	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170193	107170193	+	RNA	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:107170193A>T	ENST00000390633.2	-	0	149																											AGGCTTCTTCACCTCAGCCCC	0.577000													41	70					0	0	0.870114	0	0
LEF1	51176	broad.mit.edu	37	4	109088767	109088767	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:109088767T>C	ENST00000379951.2	-	1	1345	c.157A>G	c.(157-159)Atc>Gtc	p.I53V	LEF1_ENST00000265165.1_Missense_Mutation_p.I53V|LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000438313.2_Missense_Mutation_p.I53V	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	53	CTNNB1-binding (By similarity).				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	p.I53V(2)		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)		GAAGACTTGATGTCAGCTAAA	0.587000													30	68					0	0	0.788014	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218650	130218650	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:130218650C>T	ENST00000276211.5	+	6	1144	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R131C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R255C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	267	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R267C(2)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCAGCGAGTGCGTCAGGTAAA	0.498000													16	314					0	0	0.500413	0	0
HNRNPU	3192	broad.mit.edu	37	1	245018903	245018903	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:245018903C>T	ENST00000444376.2	-	12	2352	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G	HNRNPU_ENST00000283179.9_Silent_p.G725G	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	725	Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	p.G725G(2)|p.G706G(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CGCCACGATTCCCAGGGGCTA	0.468000													7	57					0	0	0.307466	0	0
THEG	51298	broad.mit.edu	37	19	362338	362338	+	Silent	SNP	G	G	A	rs145779146	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:362338G>A	ENST00000342640.4	-	8	1044	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P	THEG_ENST00000346878.2_Silent_p.P310P	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	334					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.P334P(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGATGATCCGGGGGCTGGCCA	0.622000													4	64					0	0	0.184627	0	0
LPP	4026	broad.mit.edu	37	3	188202445	188202445	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:188202445A>T	ENST00000312675.4	+	4	505	c.259A>T	c.(259-261)Aac>Tac	p.N87Y	LPP_ENST00000543006.1_Missense_Mutation_p.N87Y|LPP_ENST00000448637.1_Missense_Mutation_p.N87Y	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	87	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	p.N87Y(2)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TATCTCTGGAAACTTTCCTCC	0.413000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								18	135					0	0	0.592651	0	0
ERVW-1	30816	broad.mit.edu	37	7	92099512	92099512	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:92099512A>T	ENST00000493463.2	-	1	1107	c.184T>A	c.(184-186)Ttc>Atc	p.F62I	AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Missense_Mutation_p.F62I|ERVW-1_ENST00000604270.1_Intron	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		62					syncytium formation	integral to membrane|plasma membrane|virion		p.F62I(2)		endometrium(1)|large_intestine(1)|lung(15)	17						tgggcagtgaaggtgggggtt	0.478000													40	175					0	0	0.864702	0	0
ERGIC1	57222	broad.mit.edu	37	5	172377742	172377742	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:172377742G>T	ENST00000393784.3	+	10	935	c.796G>T	c.(796-798)Gtc>Ttc	p.V266F		NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	266					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	p.V266F(1)		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)			GACCTTCACCGTCGCCGGCAT	0.602000													15	104					7.05477e-17	8.94655e-17	0.520397	1	0
TTN	7273	broad.mit.edu	37	2	179550274	179550274	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:179550274G>A	ENST00000589042.1	-	128	32587	c.32363C>T	c.(32362-32364)tCt>tTt	p.S10788F	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S10471F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S9544F|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10471	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S9544F(2)|p.S9544Y(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)			CACTCTCTTAGAAATAATGTG	0.358000													16	27					0	0	0.557998	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134478232	134478232	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:134478232C>A	ENST00000319914.5	-	5	1435	c.408G>T	c.(406-408)tcG>tcT	p.S136S	ST3GAL1_ENST00000521180.1_Silent_p.S136S|ST3GAL1_ENST00000522652.1_Silent_p.S136S|ST3GAL1_ENST00000399640.2_Silent_p.S136S			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	136					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	p.S136S(2)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GGCAGCCCACCGACCTCTTCT	0.577000													13	59					1.15088e-07	1.28063e-07	0.500413	1	0
ABCA13	154664	broad.mit.edu	37	7	48619849	48619849	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:48619849C>T	ENST00000435803.1	+	56	14408	c.14384C>T	c.(14383-14385)aCg>aTg	p.T4795M	ABCA13_ENST00000544596.1_Missense_Mutation_p.T525M	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4795	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.T4795M(1)|p.T4740M(1)		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						TCTGCTGGCACGGCAGGCGTG	0.532000													5	44					0	0	0.248553	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704107	52704107	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:52704107C>T	ENST00000287727.3	+	4	1190	c.1018C>T	c.(1018-1020)Ctt>Ttt	p.L340F	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.L340F|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.L340F|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.L340F	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	340					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	p.L340F(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TTTACCTTTGCTTCTCAAACC	0.453000													33	84					0	0	0.779181	0	0
CCSER1	401145	broad.mit.edu	37	4	91230336	91230336	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:91230336G>T	ENST00000509176.1	+	2	1189	c.901G>T	c.(901-903)Gct>Tct	p.A301S	CCSER1_ENST00000333691.8_Missense_Mutation_p.A301S|CCSER1_ENST00000432775.2_Missense_Mutation_p.A301S	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1									p.A301S(4)									CCTCAATTCTGCTGCTGTTAC	0.433000													91	355					1.04275e-50	1.47021e-50	0.870114	1	0
PRPF39	55015	broad.mit.edu	37	14	45571881	45571881	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:45571881A>G	ENST00000355765.6	+	5	889	c.719A>G	c.(718-720)tAt>tGt	p.Y240C		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	240					mRNA processing|RNA splicing	nucleus	binding	p.Y240C(2)|p.Y119C(2)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ACACAGCTGTATAGTCATCAT	0.338000													63	121					0	0	0.870114	0	0
UNC13C	440279	broad.mit.edu	37	15	54305855	54305855	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:54305855G>T	ENST00000545554.1	+	1	755	c.755G>T	c.(754-756)gGa>gTa	p.G252V	UNC13C_ENST00000260323.11_Missense_Mutation_p.G252V|UNC13C_ENST00000537900.1_Missense_Mutation_p.G252V			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	252					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G252V(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAACTTCAGGGAATAAGTCAG	0.463000													29	94					6.00712e-18	7.68957e-18	0.760397	1	0
AFF3	3899	broad.mit.edu	37	2	100210522	100210522	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:100210522C>T	ENST00000317233.4	-	14	1836	c.1601G>A	c.(1600-1602)aGg>aAg	p.R534K	AFF3_ENST00000409579.1_Missense_Mutation_p.R559K|AFF3_ENST00000356421.2_Missense_Mutation_p.R559K|AFF3_ENST00000409236.1_Missense_Mutation_p.R534K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	534					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R559K(2)		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						GTTGGCTGTCCTTGGCCTTTG	0.647000													30	37					0	0	0.769981	0	0
FST	10468	broad.mit.edu	37	5	52779455	52779455	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:52779455G>A	ENST00000396947.3	+	3	565	c.399G>A	c.(397-399)ggG>ggA	p.G133G	FST_ENST00000256759.3_Silent_p.G133G	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	133	Kazal-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	p.G133G(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CAGTCTGCGGGCTGGATGGGA	0.512000													19	39					0	0	0.667858	0	0
TAF3	83860	broad.mit.edu	37	10	8056639	8056639	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:8056639G>C	ENST00000344293.5	+	7	2921	c.2715G>C	c.(2713-2715)atG>atC	p.M905I		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	905					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	p.M905I(2)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CAGAAGAGATGCAGTGGTTCT	0.507000													21	49					0	0	0.667858	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33628193	33628193	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:33628193C>T	ENST00000321505.4	+	13	4175	c.3995C>T	c.(3994-3996)gCg>gTg	p.A1332V	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1338V					KIAA1549-like									p.A1332V(1)									TCAGTGCCAGCGAGTGACGAA	0.483000													27	218					0	0	0.740014	0	0
OR51E1	143503	broad.mit.edu	37	11	4674113	4674113	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:4674113G>T	ENST00000396952.5	+	2	1007	c.357G>T	c.(355-357)ctG>ctT	p.L119L	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L118L(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTGCTGCTGGCCATGGCTT	0.517000													96	517					6.00224e-42	8.41054e-42	0.870114	1	0
NDST4	64579	broad.mit.edu	37	4	115997379	115997379	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:115997379C>T	ENST00000264363.2	-	2	1492	c.814G>A	c.(814-816)Ggc>Agc	p.G272S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	272	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.G272S(1)		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)		AAGTTGTTGCCAAAAAGTACT	0.448000													59	213					0	0	0.870114	0	0
FRMPD1	22844	broad.mit.edu	37	9	37724227	37724227	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:37724227T>C	ENST00000539465.1	+	7	1115	c.522T>C	c.(520-522)aaT>aaC	p.N174N	FRMPD1_ENST00000541302.1_Silent_p.N43N|FRMPD1_ENST00000536622.1_5'UTR|FRMPD1_ENST00000377765.3_Silent_p.N174N|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	174						cytoskeleton|cytosol|plasma membrane		p.N174N(2)		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)		TCCAGGGTAATTCTCTGCTGT	0.443000													59	16					0	0	0.870114	0	0
TNR	7143	broad.mit.edu	37	1	175331897	175331897	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:175331897G>C	ENST00000367674.1	-	14	3464	c.2756C>G	c.(2755-2757)aCc>aGc	p.T919S	TNR_ENST00000263525.2_Missense_Mutation_p.T919S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	919	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.T919S(2)		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)					TCTGGTGATGGTGAATTCTGT	0.517000													51	176					0	0	0.870114	0	0
SEC62	7095	broad.mit.edu	37	3	169693437	169693437	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:169693437G>T	ENST00000337002.4	+	2	136	c.78G>T	c.(76-78)aaG>aaT	p.K26N	SEC62_ENST00000480708.1_Missense_Mutation_p.K26N	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	26					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	p.K26N(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						CTGTGGCCAAGTATCTTCGAT	0.353000													33	79					6.2361e-21	8.15122e-21	0.834066	1	0
CDH23	64072	broad.mit.edu	37	10	73376966	73376966	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:73376966C>G	ENST00000224721.6	+	10	970	c.965C>G	c.(964-966)aCg>aGg	p.T322R	CDH23_ENST00000398842.3_Missense_Mutation_p.T317R|CDH23_ENST00000461841.3_Missense_Mutation_p.T362R|CDH23_ENST00000398809.4_Missense_Mutation_p.T317R|CDH23_ENST00000299366.7_Missense_Mutation_p.T362R	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	317	Cadherin 3.				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	p.T324R(1)|p.T317R(1)		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						CCATAGGGCACGGAGCTGAAC	0.527000													8	40					0	0	0.307466	0	0
GLB1L2	89944	broad.mit.edu	37	11	134240907	134240907	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:134240907C>G	ENST00000535456.2	+	13	1409	c.1221C>G	c.(1219-1221)atC>atG	p.I407M	GLB1L2_ENST00000339772.7_Missense_Mutation_p.I407M|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Missense_Mutation_p.I407M	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	407					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.I407M(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGCAGCCAATCAAGTCTGAAA	0.567000													35	192					0	0	0.834066	0	0
LILRB2	10288	broad.mit.edu	37	19	54783844	54783844	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:54783844G>T	ENST00000391748.1	-	4	284	c.157C>A	c.(157-159)Ctt>Att	p.L53I	LILRB2_ENST00000314446.5_Missense_Mutation_p.L53I|LILRB2_ENST00000391749.4_Missense_Mutation_p.L53I|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000391746.1_Missense_Mutation_p.L53I|LILRB2_ENST00000434421.1_Intron	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	53	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L53I(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGCTTCAAGGCTCCCCTGA	0.547000													61	69					1.46168e-27	1.97501e-27	0.870114	1	0
PIGL	9487	broad.mit.edu	37	17	16221158	16221158	+	Missense_Mutation	SNP	T	T	C	rs137909844		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:16221158T>C	ENST00000225609.5	+	6	613	c.596T>C	c.(595-597)tTg>tCg	p.L199S	PIGL_ENST00000581006.1_Intron|PIGL_ENST00000395844.3_Silent_p.L188L	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	199					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GATCTGCCCTTGTCTCTGCTT	0.522000													5	104					0	0	0.248553	0	0
AGT	183	broad.mit.edu	37	1	230845985	230845985	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:230845985C>A	ENST00000366667.4	-	2	826	c.612G>T	c.(610-612)ctG>ctT	p.L204L		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	204					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	p.L204L(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CCGTGGACAGCAGCAGCTGGG	0.667000													9	34					5.4927e-09	6.29719e-09	0.307466	1	0
FAM135B	51059	broad.mit.edu	37	8	139164527	139164527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:139164527C>A	ENST00000395297.1	-	13	2361	c.2191G>T	c.(2191-2193)Gga>Tga	p.G731*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	731								p.G731L(4)		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)			TCTGTGTGTCCACCCTCTAGG	0.557000										HNSCC(54;0.14)			37	72					9.62906e-15	1.17939e-14	0.819951	1	0
EPB41L4B	54566	broad.mit.edu	37	9	111947854	111947854	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:111947854T>C	ENST00000374566.3	-	23	2850	c.2333A>G	c.(2332-2334)cAc>cGc	p.H778R		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	778						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.H778R(2)		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						ACAGCGAGAGTGGGCACAGTG	0.592000													13	16					0	0	0.479597	0	0
SENP2	59343	broad.mit.edu	37	3	185329518	185329518	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:185329518T>C	ENST00000296257.5	+	8	1042	c.802T>C	c.(802-804)Ttt>Ctt	p.F268L	SENP2_ENST00000545472.1_Missense_Mutation_p.F258L|SENP2_ENST00000427465.2_Missense_Mutation_p.F92L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	268					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	p.F268L(1)		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)			AACAACTCAGTTTGTTCCAAA	0.378000													3	29					0	0	0.115264	0	0
LIPC	3990	broad.mit.edu	37	15	58830684	58830684	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:58830684C>A	ENST00000414170.3	+	3	528	c.241C>A	c.(241-243)Ctg>Atg	p.L81M	LIPC_ENST00000433326.2_Missense_Mutation_p.L81M|LIPC_ENST00000356113.6_Missense_Mutation_p.L81M|LIPC_ENST00000299022.5_Missense_Mutation_p.L81M			P11150	LIPC_HUMAN	lipase, hepatic	81					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	p.L81M(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CAACTCCTCCCTGCCTCTGGT	0.473000													158	423					1.24019e-77	1.78179e-77	0.870114	1	0
FAM135B	51059	broad.mit.edu	37	8	139164526	139164526	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:139164526C>A	ENST00000395297.1	-	13	2362	c.2192G>T	c.(2191-2193)gGa>gTa	p.G731V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	731								p.G731L(4)		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)			TTCTGTGTGTCCACCCTCTAG	0.557000										HNSCC(54;0.14)			37	72					8.69298e-16	1.08225e-15	0.827153	1	0
TRRAP	8295	broad.mit.edu	37	7	98533224	98533224	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:98533224A>G	ENST00000359863.4	+	28	4246	c.4037A>G	c.(4036-4038)gAa>gGa	p.E1346G	TRRAP_ENST00000355540.3_Missense_Mutation_p.E1346G|TRRAP_ENST00000446306.3_Missense_Mutation_p.E1345G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1346					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.E1346G(4)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGAGGCTGAAGATTCAGCT	0.388000													21	33					0	0	0.667858	0	0
ANTXR1	84168	broad.mit.edu	37	2	69304605	69304605	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:69304605A>G	ENST00000303714.4	+	8	949	c.627A>G	c.(625-627)caA>caG	p.Q209Q	ANTXR1_ENST00000409829.3_Silent_p.Q209Q|ANTXR1_ENST00000409349.3_Silent_p.Q209Q	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	209	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.Q209Q(4)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGGCTCTGCAAGGCATCATCC	0.488000									Familial Infantile Hemangioma				44	404					0	0	0.870114	0	0
DPAGT1	1798	broad.mit.edu	37	11	118971090	118971090	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:118971090C>A	ENST00000409993.2	-	6	2076	c.525G>T	c.(523-525)ctG>ctT	p.L175L	DPAGT1_ENST00000432443.2_Silent_p.L68L|DPAGT1_ENST00000354202.4_Silent_p.L175L			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	175					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	p.L175L(2)		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)		ACACTGCCAGCAGCCCCATGT	0.463000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	90					0.000375601	0.000394729	0.639603	1	0
VTI1A	143187	broad.mit.edu	37	10	114428028	114428028	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:114428028T>A	ENST00000393077.2	+	6	595	c.479T>A	c.(478-480)aTa>aAa	p.I160K	VTI1A_ENST00000432306.1_Missense_Mutation_p.I160K	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	160					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity	p.I160K(2)	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)		AGAGAAAAGATACAGCGAGCA	0.358000			T	TCF7L2	colorectal								13	61					0	0	0.500413	0	0
LPPR5	163404	broad.mit.edu	37	1	99470209	99470209	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:99470209C>T	ENST00000370188.3	-	1	379	c.19G>A	c.(19-21)Gcg>Acg	p.A7T	LPPR5_ENST00000263177.4_Missense_Mutation_p.A7T|RP5-896L10.1_ENST00000425113.1_RNA	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		7						integral to membrane	hydrolase activity	p.A7T(2)									CTGGTGAGCGCCGCGGGCAGC	0.687000													17	46					0	0	0.592651	0	0
INSRR	3645	broad.mit.edu	37	1	156823768	156823768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:156823768G>T	ENST00000368195.3	-	2	809	c.413C>A	c.(412-414)gCt>gAt	p.A138D	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	138					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	p.A138D(2)		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)					CACACGCACAGCCCCACGCAG	0.632000													10	25					0.00136819	0.00141602	0.411799	1	0
DDX20	11218	broad.mit.edu	37	1	112308806	112308806	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:112308806A>G	ENST00000475700.1	+	3	2942	c.584A>G	c.(583-585)tAc>tGc	p.Y195C	DDX20_ENST00000369702.4_Missense_Mutation_p.Y587C			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	587	Helicase ATP-binding.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	p.Y587C(2)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCAGCCATACACGTTGACT	0.443000													30	123					0	0	0.769981	0	0
MKI67	4288	broad.mit.edu	37	10	129907466	129907466	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:129907466C>A	ENST00000368654.3	-	13	3013	c.2638G>T	c.(2638-2640)Gag>Tag	p.E880*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.E520*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	880					cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.E880*(2)		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)				TTCCTGAACTCTGTAGACCTT	0.403000													52	126					3.10202e-16	3.88322e-16	0.870114	1	0
CYP1B1	1545	broad.mit.edu	37	2	38297933	38297933	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:38297933G>C	ENST00000260630.3	-	3	1965	c.1564C>G	c.(1564-1566)Ctc>Gtc	p.L522V	CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Missense_Mutation_p.L522V	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	522					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	p.L522V(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GACTCTCTGAGAGTGACATTG	0.408000													26	45					0	0	0.729181	0	0
LRIF1	55791	broad.mit.edu	37	1	111494316	111494316	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:111494316T>C	ENST00000369763.4	-	2	1580	c.1190A>G	c.(1189-1191)cAg>cGg	p.Q397R	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.Q397R(2)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ACTCACTGTCTGTAACGTGTC	0.393000													95	651					0	0	0.870114	0	0
CAPN7	23473	broad.mit.edu	37	3	15288300	15288300	+	Splice_Site	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:15288300G>C	ENST00000253693.2	+	18	2325	c.2073_splice	c.e18+1	p.R691_splice		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	691	Domain III.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity	p.R691P(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TTATCAAAACGGGTGAGAAAA	0.294000													15	22					0	0	0.624587	0	0
KRT8P12	90133	broad.mit.edu	37	3	160285713	160285713	+	RNA	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:160285713A>G	ENST00000468527.1	+	0	724																											AGCCACCCCTACACTAGTGGG	0.622000													3	4					0	0	0.115264	0	0
EDNRB	1910	broad.mit.edu	37	13	78492316	78492316	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:78492316G>C	ENST00000377211.4	-	2	815	c.663C>G	c.(661-663)tgC>tgG	p.C221W	EDNRB_ENST00000334286.5_Missense_Mutation_p.C131W|EDNRB_ENST00000446573.1_Missense_Mutation_p.C131W	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	131					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.C131W(2)|p.C221W(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CGTTTCGCATGCACTTGTTCT	0.483000													78	30					0	0	0.870114	0	0
WT1	7490	broad.mit.edu	37	11	32413610	32413610	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:32413610C>A	ENST00000332351.3	-	9	1624	c.1339_splice	c.e9-1	p.G447_splice	WT1_ENST00000379079.2_Splice_Site_p.G235_splice|WT1_ENST00000448076.3_Splice_Site_p.G447_splice|WT1_ENST00000530998.1_Splice_Site_p.G218_splice	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	379					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G379V(4)|p.G235V(2)|p.V380_S410del(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGGTTTCACACCTAAATGGAC	0.532000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				104	244					3.00942e-58	4.27852e-58	0.870114	1	0
PHACTR3	116154	broad.mit.edu	37	20	58318161	58318161	+	Splice_Site	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:58318161G>A	ENST00000371015.1	+	2	585		c.e2-1		PHACTR3_ENST00000395639.4_Splice_Site|PHACTR3_ENST00000361300.4_Splice_Site|PHACTR3_ENST00000359926.3_Splice_Site|PHACTR3_ENST00000395636.2_Splice_Site|PHACTR3_ENST00000355648.4_Splice_Site|PHACTR3_ENST00000541461.1_Splice_Site	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3							nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.?(2)		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)			TCGTCTTCCAGATGAGATGGA	0.587000													34	53					0	0	0.859065	0	0
THOP1	7064	broad.mit.edu	37	19	2790467	2790467	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:2790467A>G	ENST00000307741.6	+	2	268	c.65A>G	c.(64-66)aAc>aGc	p.N22S		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	22					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	p.N22S(2)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		TCTGTGGTAAACGACCTGCGG	0.607000													23	48					0	0	0.693898	0	0
SCN9A	6335	broad.mit.edu	37	2	167168167	167168167	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:167168167C>G	ENST00000303354.6	-	2	440	c.100G>C	c.(100-102)Gaa>Caa	p.E34Q	SCN9A_ENST00000409672.1_Missense_Mutation_p.E34Q|SCN9A_ENST00000409435.1_Missense_Mutation_p.E34Q|SCN9A_ENST00000375387.4_Missense_Mutation_p.E34Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	34						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E34Q(2)		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)	TCTTTGGGTTCCTTTGATTTT	0.468000													42	279					0	0	0.870114	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925558	54925558	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:54925558C>G	ENST00000293373.6	+	25	2809	c.2730C>G	c.(2728-2730)atC>atG	p.I910M	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I860M	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	910					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	p.I910M(2)		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						GCATGACCATCATTGGGGTTA	0.488000													10	50					0	0	0.387290	0	0
CYP3A7	1551	broad.mit.edu	37	7	99311132	99311132	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:99311132C>T	ENST00000336374.2	-	9	827	c.825G>A	c.(823-825)atG>atA	p.M275I		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	275					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.M275I(2)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GAGAGTCAATCATCAGCTGAA	0.433000													15	129					0	0	0.557998	0	0
ILDR1	286676	broad.mit.edu	37	3	121712504	121712504	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:121712504C>A	ENST00000273691.3	-	6	1065	c.960G>T	c.(958-960)ctG>ctT	p.L320L	ILDR1_ENST00000393631.1_Silent_p.L275L|ILDR1_ENST00000462014.1_Silent_p.L332L|ILDR1_ENST00000344209.5_Silent_p.L364L|ILDR1_ENST00000460554.1_5'UTR	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	364						cytosol|integral to membrane|plasma membrane	receptor activity	p.L320L(2)|p.L364L(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCCCCTCCCTCAGATCCCAGG	0.597000													13	51					1.49906e-05	1.61019e-05	0.457914	1	0
ZBTB40	9923	broad.mit.edu	37	1	22837737	22837737	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:22837737C>A	ENST00000404138.1	+	11	2410	c.1899C>A	c.(1897-1899)gcC>gcA	p.A633A	ZBTB40_ENST00000375647.4_Silent_p.A633A|ZBTB40_ENST00000374651.4_Silent_p.A521A	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	633					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A633A(2)		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)		TGAGCAGAGCCATGGAAAAAT	0.512000													24	117					1.2476e-16	1.57336e-16	0.706142	1	0
CSMD3	114788	broad.mit.edu	37	8	113651001	113651001	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:113651001A>G	ENST00000297405.5	-	21	3694	c.3450T>C	c.(3448-3450)taT>taC	p.Y1150Y	CSMD3_ENST00000352409.3_Silent_p.Y1150Y|CSMD3_ENST00000455883.2_Silent_p.Y1046Y|CSMD3_ENST00000343508.3_Silent_p.Y1110Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1150	CUB 6.					integral to membrane|plasma membrane		p.Y1110Y(2)|p.Y1150Y(2)		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						TGAAATTTCCATAGAGACCAG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	64					0	0	0.575678	0	0
NUGGC	389643	broad.mit.edu	37	8	27891171	27891171	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:27891171A>G	ENST00000413272.2	-	14	1797	c.1655T>C	c.(1654-1656)gTt>gCt	p.V552A	NUGGC_ENST00000341513.6_Missense_Mutation_p.V552A	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.V552A(4)									TTTCAGGCAAACAGCTTTCAG	0.438000													24	230					0	0	0.740014	0	0
HUWE1	10075	broad.mit.edu	37	X	53641577	53641577	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:53641577T>A	ENST00000342160.3	-	22	2636	c.2179A>T	c.(2179-2181)Agt>Tgt	p.S727C	HUWE1_ENST00000262854.6_Missense_Mutation_p.S727C|HUWE1_ENST00000218328.8_Missense_Mutation_p.S727C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	727					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	p.S727C(4)		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						TCATCCTCACTAGAGGCTTCT	0.488000													56	75					0	0	0.870114	0	0
RYR2	6262	broad.mit.edu	37	1	237802406	237802406	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:237802406G>A	ENST00000366574.2	+	46	7337	c.7020G>A	c.(7018-7020)ggG>ggA	p.G2340G	RYR2_ENST00000360064.6_Silent_p.G2338G|RYR2_ENST00000542537.1_Silent_p.G2324G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2340	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	p.G2338G(2)		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)			GAGAAGGTGGGAATGGGCTTC	0.502000													24	72					0	0	0.717897	0	0
PRODH	5625	broad.mit.edu	37	22	18905888	18905888	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:18905888C>T	ENST00000357068.6	-	11	1633	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E	PRODH_ENST00000420436.1_Silent_p.E348E|PRODH_ENST00000334029.2_Silent_p.E348E	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	456				AE -> Q (in Ref. 7; AAC39529).	glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	p.E456E(2)		breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	CATAGCCGATCTCTGCCGCAC	0.667000													8	45					0	0	0.278610	0	0
ITGA1	3672	broad.mit.edu	37	5	52204758	52204758	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:52204758A>T	ENST00000282588.6	+	13	1944	c.1486A>T	c.(1486-1488)Aca>Tca	p.T496S		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	496					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.T496S(1)		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)				TATTTTAACAACAACTGACAT	0.383000													46	69					0	0	0.870114	0	0
OR7C2	26658	broad.mit.edu	37	19	15052376	15052376	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:15052376C>T	ENST00000248072.3	+	1	76	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L26F(2)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CATGCAGCTTCTCCTCCATGG	0.537000													53	68					0	0	0.870114	0	0
NXPE4	54827	broad.mit.edu	37	11	114453150	114453150	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:114453150G>C	ENST00000375478.3	-	3	870	c.690C>G	c.(688-690)tgC>tgG	p.C230W	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4									p.C230W(2)									CCAGGTACTGGCACAATTCAG	0.478000													47	410					0	0	0.870114	0	0
HNRNPK	3190	broad.mit.edu	37	9	86592668	86592668	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:86592668T>C	ENST00000376263.3	-	4	315	c.92A>G	c.(91-93)cAa>cGa	p.Q31R	HNRNPK_ENST00000360384.5_Missense_Mutation_p.Q31R|HNRNPK_ENST00000351839.3_Missense_Mutation_p.Q31R|HNRNPK_ENST00000376281.4_Missense_Mutation_p.Q31R|HNRNPK_ENST00000376264.2_Missense_Mutation_p.Q31R	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	31	Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|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|single-stranded DNA binding	p.Q31R(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TTTAAATGCTTGTTCCTCTTC	0.358000													21	63					0	0	0.740014	0	0
MYH4	4622	broad.mit.edu	37	17	10369629	10369629	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:10369629C>T	ENST00000255381.2	-	4	419	c.309G>A	c.(307-309)ctG>ctA	p.L103L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	103	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.L103L(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGAGGTTATACAGCACAGCAG	0.458000													148	95					0	0	0.870114	0	0
GPKOW	27238	broad.mit.edu	37	X	48973451	48973451	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:48973451C>T	ENST00000156109.5	-	6	924	c.846G>A	c.(844-846)gtG>gtA	p.V282V		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	282						nucleus	nucleic acid binding	p.V282V(2)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CACTAACAGTCACCACCCGGC	0.547000													134	480					0	0	0.870114	0	0
HAPLN3	145864	broad.mit.edu	37	15	89424754	89424754	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:89424754G>C	ENST00000359595.3	-	3	541	c.327C>G	c.(325-327)caC>caG	p.H109Q	HAPLN3_ENST00000562889.1_Missense_Mutation_p.H171Q	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	109	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.H109Q(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAAAGGAGCGGTGCCTCAGCC	0.657000													25	43					0	0	0.667858	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746613	77746613	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:77746613T>A	ENST00000409088.3	-	3	796	c.382A>T	c.(382-384)Aca>Tca	p.T128S	LRRTM4_ENST00000409884.1_Missense_Mutation_p.T128S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.T129S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.T129S|LRRTM4_ENST00000409093.1_Missense_Mutation_p.T128S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	128						integral to membrane		p.T128S(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGGTGAAATGTTTTATTGTGC	0.378000													32	45					0	0	0.779181	0	0
PAPSS2	9060	broad.mit.edu	37	10	89475536	89475536	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:89475536C>G	ENST00000361175.4	+	7	1170	c.801C>G	c.(799-801)ccC>ccG	p.P267P	PAPSS2_ENST00000427144.2_Silent_p.P271P|PAPSS2_ENST00000456849.1_Silent_p.P267P	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	267					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	p.P267P(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GGGCCACTCCCCTCAAAGGTT	0.438000													7	57					0	0	0.248553	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293630	71293630	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:71293630G>A	ENST00000398530.1	-	1	291	c.254C>T	c.(253-255)tCc>tTc	p.S85F	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	85	6 X 4 AA repeats of C-C-X-P.					keratin filament		p.S85F(2)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACAGCAGTTGGACTGGGAGCA	0.622000													22	98					0	0	0.654019	0	0
RGS5	8490	broad.mit.edu	37	1	163172591	163172591	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:163172591C>A	ENST00000313961.5	-	1	312	c.35G>T	c.(34-36)tGc>tTc	p.C12F	RGS5_ENST00000530507.1_Missense_Mutation_p.C12F|RGS5_ENST00000527988.1_5'UTR|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000367903.3_Intron|RGS5_ENST00000534288.1_Intron	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	12					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.C12F(2)|p.C12Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CCTTTCCAGGCATGAGTGGGG	0.448000													27	51					3.76114e-14	4.56566e-14	0.796494	1	0
CADPS2	93664	broad.mit.edu	37	7	122261550	122261550	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:122261550C>A	ENST00000334010.7	-	5	1510	c.1089G>T	c.(1087-1089)ctG>ctT	p.L363L	CADPS2_ENST00000449022.2_Silent_p.L363L|CADPS2_ENST00000412584.2_Silent_p.L363L|CADPS2_ENST00000313070.7_Silent_p.L363L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	363					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.L363L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGGTGAATGACAGTACCACGT	0.373000													26	234					2.81731e-10	3.27405e-10	0.750413	1	0
FAT1	2195	broad.mit.edu	37	4	187541804	187541804	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:187541804A>C	ENST00000441802.2	-	10	6145	c.5936T>G	c.(5935-5937)tTt>tGt	p.F1979C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1979	Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.F1979C(2)|p.F1982C(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCCTGGGTAAACTTTAGGTG	0.453000										HNSCC(5;0.00058)			66	156					0	0	0.870114	0	0
OR1M1	125963	broad.mit.edu	37	19	9203967	9203967	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:9203967G>T	ENST00000429566.3	+	1	113	c.47G>T	c.(46-48)gGa>gTa	p.G16V		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16V(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATCCTCCTGGGACTCTCAGAA	0.507000													34	60					9.45814e-24	1.25555e-23	0.804634	1	0
WDR96	80217	broad.mit.edu	37	10	105903388	105903388	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:105903388T>G	ENST00000357060.3	-	32	4069	c.3954A>C	c.(3952-3954)aaA>aaC	p.K1318N	WDR96_ENST00000428666.1_Missense_Mutation_p.K1290N	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1318								p.K1318N(2)		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						GCGTTTTCTGTTTGGAAATCC	0.413000													12	42					0	0	0.479597	0	0
GPKOW	27238	broad.mit.edu	37	X	48973405	48973405	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:48973405C>T	ENST00000156109.5	-	6	970	c.892G>A	c.(892-894)Gac>Aac	p.D298N		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	298						nucleus	nucleic acid binding	p.D298N(2)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						GTGTTCTTGTCAAACTCCTGC	0.567000													111	468					0	0	0.870114	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035851	110035851	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:110035851C>T	ENST00000453089.2	+	5	2829	c.1948C>T	c.(1948-1950)Cac>Tac	p.H650Y	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.H682Y|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.H681Y			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	681							endonuclease activity|nucleic acid binding|zinc ion binding	p.H681Y(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCAGAATTTCCACGACCCCTT	0.547000													48	361					0	0	0.870114	0	0
KIAA1109	84162	broad.mit.edu	37	4	123165092	123165092	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:123165092C>T	ENST00000264501.4	+	31	5199	c.4826C>T	c.(4825-4827)cCa>cTa	p.P1609L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1609L|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1609L			Q2LD37	K1109_HUMAN	KIAA1109	1609					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.P1609L(2)		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						CTGGATCAACCAGTGTCCCAG	0.408000													16	82					0	0	0.575678	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767721	77767721	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:77767721C>A	ENST00000521891.2	+	10	9012	c.8564C>A	c.(8563-8565)cCt>cAt	p.P2855H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2829H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2810H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2810H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2810						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P2839H(2)		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)			GCAACCACACCTACCACGGAG	0.473000										HNSCC(33;0.089)			25	36					3.08376e-08	3.48844e-08	0.654019	1	0
SPEG	10290	broad.mit.edu	37	2	220333302	220333302	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:220333302G>A	ENST00000312358.7	+	11	3277	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1049	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.E1049K(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCACAGATGAGCTGACCTG	0.652000													78	21					0	0	0.870114	0	0
SLC1A2	6506	broad.mit.edu	37	11	35333830	35333830	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:35333830T>C	ENST00000278379.3	-	4	758	c.476A>G	c.(475-477)aAt>aGt	p.N159S	SLC1A2_ENST00000395750.1_Missense_Mutation_p.N150S|SLC1A2_ENST00000606205.1_Missense_Mutation_p.N159S|SLC1A2_ENST00000395753.1_Missense_Mutation_p.N150S	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	159					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.N159S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CACTTCATCATTCTTCTTCCC	0.512000													45	371					0	0	0.870114	0	0
MED1	5469	broad.mit.edu	37	17	37565297	37565297	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:37565297G>C	ENST00000300651.6	-	17	3400	c.3177C>G	c.(3175-3177)ccC>ccG	p.P1059P	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1059	Interaction with ESR1.				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	p.P1059P(2)		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)		TTTTGGGAATGGGTGGTGTGG	0.507000										HNSCC(31;0.082)			137	122					0	0	0.870114	0	0
COX7A2L	9167	broad.mit.edu	37	2	42578436	42578436	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:42578436T>A	ENST00000378669.1	-	4	1097	c.268A>T	c.(268-270)Acc>Tcc	p.T90S	COX7A2L_ENST00000234301.2_Missense_Mutation_p.T90S|COX7A2L_ENST00000482463.1_5'UTR			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	90					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	p.T90S(2)		lung(4)	4						AGCGCCATGGTGGTCCGGTAA	0.522000													70	121					0	0	0.870114	0	0
EML4	27436	broad.mit.edu	37	2	42530318	42530318	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:42530318A>G	ENST00000318522.5	+	15	1978	c.1716A>G	c.(1714-1716)cgA>cgG	p.R572R	EML4_ENST00000402711.2_Silent_p.R514R|EML4_ENST00000401738.3_Silent_p.R583R|EML4_ENST00000453191.2_5'UTR	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	572					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.R572R(2)	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						GCACATCACGAAACTTTATTT	0.348000			T	ALK	NSCLC								37	214					0	0	0.840704	0	0
SYAP1	94056	broad.mit.edu	37	X	16773137	16773137	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:16773137C>T	ENST00000380155.3	+	6	738	c.645C>T	c.(643-645)ctC>ctT	p.L215L		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	215								p.L215L(2)		endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					CAGCCCAGCTCACGGCCCTGG	0.512000													18	22					0	0	0.624587	0	0
ENPEP	2028	broad.mit.edu	37	4	111436540	111436540	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:111436540C>T	ENST00000265162.5	+	8	1793	c.1451C>T	c.(1450-1452)tCt>tTt	p.S484F	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	484					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.S484F(2)		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)	TAGGGATCTTCTATTTTGAGA	0.299000													14	24					0	0	0.479597	0	0
TTC21A	199223	broad.mit.edu	37	3	39178787	39178787	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:39178787G>T	ENST00000301819.6	+	25	3560	c.3383G>T	c.(3382-3384)cGg>cTg	p.R1128L	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Missense_Mutation_p.R1127L|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1079L	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1127							binding	p.R1128L(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACCCAGCTGCGGCTGCTGCAG	0.612000													6	13					0.0477658	0.0481191	0.307466	1	0
NRXN3	9369	broad.mit.edu	37	14	80328143	80328143	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:80328143T>C	ENST00000281127.7	+	6	2014	c.1135T>C	c.(1135-1137)Tac>Cac	p.Y379H	NRXN3_ENST00000428277.2_Missense_Mutation_p.Y406H|NRXN3_ENST00000335750.5_Missense_Mutation_p.Y1008H|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Missense_Mutation_p.Y584H|NRXN3_ENST00000554719.1_Missense_Mutation_p.Y1008H	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	584					angiogenesis|cell adhesion	integral to membrane		p.Y1008H(2)|p.Y406H(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTACGCCATGTACAAGTACAG	0.587000													22	86					0	0	0.624587	0	0
LRRCC1	85444	broad.mit.edu	37	8	86042277	86042277	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:86042277A>G	ENST00000414626.2	+	10	2579	c.1690A>G	c.(1690-1692)Aaa>Gaa	p.K564E	LRRCC1_ENST00000360375.3_Missense_Mutation_p.K584E			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	584					cell division|mitosis	centriole|nucleus		p.K564E(2)|p.K584E(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TCTTGCATTGAAAGAACAGGA	0.358000													12	48					0	0	0.500413	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457293	110457293	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:110457293C>A	ENST00000378402.5	+	38	5299	c.5195C>A	c.(5194-5196)cCt>cAt	p.P1732H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1732	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P1734H(2)		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)			CATGGAGTGCCTGCCCAGTGC	0.433000										HNSCC(38;0.096)			218	255					3.8e-81	5.47104e-81	0.870114	1	0
BAI3	577	broad.mit.edu	37	6	70071247	70071247	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:70071247T>A	ENST00000370598.1	+	29	4903	c.4082T>A	c.(4081-4083)aTg>aAg	p.M1361K	BAI3_ENST00000546190.1_Missense_Mutation_p.M325K|BAI3_ENST00000238918.8_Missense_Mutation_p.M567K	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1361					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.M1361K(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAGTTCAATATGAACTTAGAG	0.433000													56	169					0	0	0.870114	0	0
SLC25A40	55972	broad.mit.edu	37	7	87470973	87470973	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:87470973T>C	ENST00000341119.5	-	10	1144	c.798A>G	c.(796-798)caA>caG	p.Q266Q		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	266					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.Q266Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					ATGTCCAAAGTTGTGTCTGCT	0.264000													2	6					0	0	0.115264	0	0
FDXR	2232	broad.mit.edu	37	17	72862348	72862348	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:72862348G>A	ENST00000455107.2	-	6	696	c.280C>T	c.(280-282)Cat>Tat	p.H94Y	FDXR_ENST00000413947.2_Missense_Mutation_p.H169Y|FDXR_ENST00000582944.1_Missense_Mutation_p.H130Y|FDXR_ENST00000293195.5_Missense_Mutation_p.H138Y|FDXR_ENST00000420580.2_Missense_Mutation_p.H98Y|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000581530.1_Missense_Mutation_p.H138Y|FDXR_ENST00000544854.1_Missense_Mutation_p.H86Y|FDXR_ENST00000442102.2_Missense_Mutation_p.H181Y|FDXR_ENST00000583917.1_Missense_Mutation_p.H139Y			P22570	ADRO_HUMAN	ferredoxin reductase	138					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	p.H138Y(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGGCCCGATGGTCCTCTGCC	0.657000													3	25					0	0	0.115264	0	0
NEO1	4756	broad.mit.edu	37	15	73528761	73528761	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:73528761C>G	ENST00000339362.5	+	9	1812	c.1365C>G	c.(1363-1365)atC>atG	p.I455M	NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000560262.1_Missense_Mutation_p.I455M|NEO1_ENST00000261908.6_Missense_Mutation_p.I455M|NEO1_ENST00000558964.1_Missense_Mutation_p.I455M			Q92859	NEO1_HUMAN	neogenin 1	455	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		p.I455M(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCCGCTTCATCAAATTGACGT	0.552000													40	187					0	0	0.847076	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213445953	213445953	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:213445953G>C	ENST00000366960.3	+	15	3327	c.3177G>C	c.(3175-3177)gtG>gtC	p.V1059V	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Silent_p.V1047V|RPS6KC1_ENST00000543470.1_Silent_p.V847V	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	1059					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	p.V1059V(1)		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)		TTACCCCTGTGGATTGGGCAG	0.458000													18	237					0	0	0.639603	0	0
FASTKD2	22868	broad.mit.edu	37	2	207635937	207635937	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:207635937G>C	ENST00000236980.6	+	4	1261	c.913G>C	c.(913-915)Gaa>Caa	p.E305Q	FASTKD2_ENST00000402774.3_Missense_Mutation_p.E305Q|FASTKD2_ENST00000403094.3_Missense_Mutation_p.E305Q	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	305					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.E305Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TTGGAAAATAGAAGATGTCTT	0.308000													26	104					0	0	0.740014	0	0
LAMB4	22798	broad.mit.edu	37	7	107743504	107743504	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:107743504G>A	ENST00000388781.3	-	10	1248	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S	LAMB4_ENST00000414450.2_Missense_Mutation_p.P389S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P389S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P389S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	389	Laminin EGF-like 2.				cell adhesion	basement membrane		p.P389S(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACGCGTAGGGATCTGAGATG	0.597000													24	50					0	0	0.693898	0	0
DYTN	391475	broad.mit.edu	37	2	207527696	207527696	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:207527696G>T	ENST00000452335.2	-	11	1680	c.1564C>A	c.(1564-1566)Ctg>Atg	p.L522M		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	522						plasma membrane	zinc ion binding	p.L522M(4)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCTTCCTCCAGCTCATCCTTT	0.463000													167	353					6.57016e-105	9.54004e-105	0.870114	1	0
LOC645752	645752	broad.mit.edu	37	15	78211393	78211393	+	RNA	SNP	A	A	T	rs28595390	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:78211393A>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CAGTCTCTCCAGCTCCCGCAC	0.597000													5	63					0	0	0.217242	0	0
AMICA1	120425	broad.mit.edu	37	11	118081327	118081327	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:118081327G>T	ENST00000292067.7	-	3	710	c.269C>A	c.(268-270)tCt>tAt	p.S90Y	AMICA1_ENST00000356289.5_Missense_Mutation_p.S100Y|AMICA1_ENST00000533261.1_Missense_Mutation_p.S100Y|AMICA1_ENST00000526620.1_Missense_Mutation_p.S61Y	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	100	Ig-like V-type 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		p.S90Y(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	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;3.4e-05)		GAGCAGGAGAGAGCCATCATT	0.507000													17	510					1.15088e-07	1.28063e-07	0.500413	1	0
SLC35E3	55508	broad.mit.edu	37	12	69140237	69140237	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:69140237G>T	ENST00000398004.2	+	1	352	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	27						integral to membrane		p.C27F(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			GTGTCCATCTGCATTGTGTTC	0.592000													20	42					2.44723e-14	2.97601e-14	0.681144	1	0
KCNA2	3737	broad.mit.edu	37	1	111147346	111147346	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:111147346T>C	ENST00000485317.1	-	3	732	c.59A>G	c.(58-60)cAg>cGg	p.Q20R	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.Q20R|KCNA2_ENST00000316361.4_Missense_Mutation_p.Q20R|KCNA2_ENST00000369770.3_Missense_Mutation_p.Q20R			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	20						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.Q20R(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		ATAGGTGTCCTGTGGGTGCCC	0.587000													39	95					0	0	0.864702	0	0
DHX37	57647	broad.mit.edu	37	12	125435313	125435313	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:125435313C>A	ENST00000308736.2	-	22	3004	c.2906G>T	c.(2905-2907)aGc>aTc	p.S969I	DHX37_ENST00000544745.1_Missense_Mutation_p.S756I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	969							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.S969I(2)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AAGGACGGAGCTGGGGTGGAT	0.567000													109	60					5.48058e-68	7.84092e-68	0.870114	1	0
SPTB	6710	broad.mit.edu	37	14	65246605	65246605	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:65246605C>G	ENST00000389722.3	-	20	4364	c.4311G>C	c.(4309-4311)gaG>gaC	p.E1437D	SPTB_ENST00000389721.5_Missense_Mutation_p.E1437D|SPTB_ENST00000389720.3_Missense_Mutation_p.E1437D|SPTB_ENST00000556626.1_Missense_Mutation_p.E1437D|SPTB_ENST00000542895.1_Missense_Mutation_p.E1437D	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1437					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.E1437D(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGGCAAACAGCTCCCCCAGCT	0.597000													27	74					0	0	0.750413	0	0
SI	6476	broad.mit.edu	37	3	164712076	164712076	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:164712076C>T	ENST00000264382.3	-	41	4872	c.4810G>A	c.(4810-4812)Ggt>Agt	p.G1604S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1604	Sucrase.				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	p.G1604S(2)		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)	ACAGTGCCACCATTAGCATGA	0.338000										HNSCC(35;0.089)			12	56					0	0	0.479597	0	0
RGS4	5999	broad.mit.edu	37	1	163043250	163043250	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:163043250G>C	ENST00000421743.2	+	5	667	c.507G>C	c.(505-507)ggG>ggC	p.G169G	RGS4_ENST00000367908.4_Intron|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367906.3_Silent_p.G54G|RGS4_ENST00000531057.1_Silent_p.G72G|RGS4_ENST00000527809.1_Silent_p.G54G|RGS4_ENST00000367909.6_Silent_p.G72G	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	72	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.G169G(2)|p.G72G(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TCATAGGTGGGCTGGCAGCTT	0.423000													39	152					0	0	0.870114	0	0
C2orf48	348738	broad.mit.edu	37	2	10350487	10350487	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:10350487G>A	ENST00000381786.3	+	4	533	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	82								p.A82T(2)		endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		GAGAAGCCCAGCCCTCATTGT	0.522000													4	49					0	0	0.217242	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63888812	63888812	+	Splice_Site	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:63888812C>G	ENST00000337537.3	-	4	957	c.354_splice	c.e4-1	p.V119_splice	PPP2R5E_ENST00000555899.1_Splice_Site_p.V119_splice|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Splice_Site_p.V43_splice	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	119					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.V119L(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		TTGCAAGATACCTAAAAATAA	0.448000													11	77					0	0	0.411799	0	0
ANO4	121601	broad.mit.edu	37	12	101295492	101295492	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:101295492C>T	ENST00000538618.1	+	4	427	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						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						TGTGGCAAGCCGCCCAGCGTC	0.498000										HNSCC(74;0.22)			41	125					0	0	0.870114	0	0
COL15A1	1306	broad.mit.edu	37	9	101818644	101818644	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:101818644G>T	ENST00000375001.3	+	35	3718	c.3295G>T	c.(3295-3297)Ggg>Tgg	p.G1099W		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1099	Triple-helical region 8 (COL8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G1099W(2)		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)				TGGGCCACCGGGGCCCCCGGG	0.622000													8	7					4.84862e-15	5.96012e-15	0.387290	1	0
PDCD11	22984	broad.mit.edu	37	10	105194078	105194078	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:105194078C>G	ENST00000369797.3	+	24	3732	c.3638C>G	c.(3637-3639)tCc>tGc	p.S1213C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1213	S1 motif 10.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	p.S1213C(1)		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)		CCAGATTCCTCCAAGACCCTC	0.552000													8	107					0	0	0.307466	0	0
HECW2	57520	broad.mit.edu	37	2	197184122	197184122	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:197184122C>G	ENST00000260983.2	-	9	1674	c.1492G>C	c.(1492-1494)Gat>Cat	p.D498H	HECW2_ENST00000409111.1_Missense_Mutation_p.D142H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	498					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.D498H(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						CTTCCATCATCAGCTCTGGAT	0.512000													12	49					0	0	0.457914	0	0
HEATR5B	54497	broad.mit.edu	37	2	37302747	37302747	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:37302747G>A	ENST00000233099.5	-	5	573	c.478C>T	c.(478-480)Cta>Tta	p.L160L	HEATR5B_ENST00000354531.2_Silent_p.L160L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	160							binding	p.L160L(2)		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)				ACTTTCTGTAGACTCATTAAG	0.388000													71	134					0	0	0.870114	0	0
NARS2	79731	broad.mit.edu	37	11	78204159	78204159	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:78204159T>C	ENST00000281038.5	-	7	1147	c.772A>G	c.(772-774)Atg>Gtg	p.M258V	NARS2_ENST00000528850.1_Missense_Mutation_p.M31V	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	258					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	p.M258V(2)		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)	GCTTCTATCATATAAAACTCT	0.393000													62	82					0	0	0.870114	0	0
KIF24	347240	broad.mit.edu	37	9	34257209	34257209	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:34257209T>G	ENST00000379166.2	-	11	2515	c.2396A>C	c.(2395-2397)cAg>cCg	p.Q799P	KIF24_ENST00000379174.3_Missense_Mutation_p.Q665P|KIF24_ENST00000345050.2_Missense_Mutation_p.Q665P|KIF24_ENST00000402558.2_Missense_Mutation_p.Q799P	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	799					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.Q281P(2)|p.Q799P(2)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ATTCGTGAGCTGACCCTCTGG	0.478000													43	256					0	0	0.870114	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703714	103703714	+	Missense_Mutation	SNP	G	G	T	rs140050923		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:103703714G>T	ENST00000245312.3	-	4	1250	c.654C>A	c.(652-654)agC>agA	p.S218R		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	218					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.S218R(2)		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)					TGATCCAGGCGCTTTGGTACA	0.478000													47	35					1.54043e-34	2.13219e-34	0.870114	1	0
HMGCS1	3157	broad.mit.edu	37	5	43297159	43297159	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:43297159T>C	ENST00000325110.6	-	5	890	c.684A>G	c.(682-684)gcA>gcG	p.A228A	HMGCS1_ENST00000433297.2_Silent_p.A228A	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	228					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	p.A228A(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						AGCGGTCTAATGCACTGAGGT	0.413000													51	151					0	0	0.870114	0	0
KIAA2022	340533	broad.mit.edu	37	X	73964291	73964291	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:73964291G>C	ENST00000373468.1	-	3	752	c.101C>G	c.(100-102)gCa>gGa	p.A34G	KIAA2022_ENST00000055682.5_Missense_Mutation_p.A34G			Q5QGS0	K2022_HUMAN	KIAA2022	34					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.A34G(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGACTTCATTGCCACATCCTG	0.453000													12	14					0	0	0.435327	0	0
CDHR1	92211	broad.mit.edu	37	10	85968522	85968522	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:85968522C>T	ENST00000372117.3	+	12	1308	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	CDHR1_ENST00000440770.2_Missense_Mutation_p.P161L|CDHR1_ENST00000332904.3_Missense_Mutation_p.P402L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	402	Cadherin 4.				homophilic cell adhesion		calcium ion binding|receptor activity	p.P402L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGGTGGGACCCAGGGGCATC	0.443000													10	32					0	0	0.411799	0	0
SLC9B2	133308	broad.mit.edu	37	4	103949926	103949926	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:103949926C>A	ENST00000394785.3	-	11	2001	c.1370G>T	c.(1369-1371)tGg>tTg	p.W457L	SLC9B2_ENST00000503230.1_Missense_Mutation_p.W400L|SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000362026.3_Missense_Mutation_p.W457L|SLC9B2_ENST00000339611.4_Intron	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	457					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	p.W457L(4)									CTTTGGAAGCCATGCAAAAGA	0.363000													13	24					0.00400662	0.0041154	0.500413	1	0
ACSM1	116285	broad.mit.edu	37	16	20636757	20636757	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:20636757C>A	ENST00000219151.4	-	12	1678	c.468G>T	c.(466-468)ccG>ccT	p.P156P	ACSM1_ENST00000307493.4_Silent_p.P505P|ACSM1_ENST00000520010.1_Silent_p.P505P			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	505					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	p.P505P(2)|p.P156P(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCCCTCGAATCGGGTCTGGGC	0.602000													42	71					8.48111e-28	1.14824e-27	0.870114	1	0
DLG2	1740	broad.mit.edu	37	11	83173087	83173087	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:83173087G>C	ENST00000398309.2	-	22	2934	c.2464C>G	c.(2464-2466)Cga>Gga	p.R822G	DLG2_ENST00000404783.3_Missense_Mutation_p.R300G|DLG2_ENST00000418306.2_Missense_Mutation_p.R701G|DLG2_ENST00000376106.3_Missense_Mutation_p.R286G|DLG2_ENST00000537455.1_Missense_Mutation_p.R572G|DLG2_ENST00000426717.2_Missense_Mutation_p.R286G|DLG2_ENST00000376104.2_Missense_Mutation_p.R927G|DLG2_ENST00000531015.1_Missense_Mutation_p.R789G|DLG2_ENST00000532653.1_Missense_Mutation_p.R804G|DLG2_ENST00000543673.1_Missense_Mutation_p.R927G|DLG2_ENST00000524982.1_Missense_Mutation_p.R818G|DLG2_ENST00000280241.8_Missense_Mutation_p.R861G|DLG2_ENST00000330014.6_Missense_Mutation_p.R743G	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	822	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.R927G(2)|p.R861G(2)|p.R701G(2)|p.R822G(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTAATTGCTCGATCATAGGTT	0.378000													13	70					0	0	0.435327	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5969418	5969418	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:5969418G>T	ENST00000284898.6	-	18	1815	c.1615C>A	c.(1615-1617)Caa>Aaa	p.Q539K	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.Q530K|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.Q343K|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.Q539K	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	539					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q539K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CGTGCCACTTGGCTGGCCCGG	0.637000													17	61					2.5808e-16	3.23669e-16	0.539581	1	0
DCHS1	8642	broad.mit.edu	37	11	6661983	6661983	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:6661983C>A	ENST00000299441.3	-	2	1273	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	288	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G288W(2)		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)		GTCACAGCCCCATTGACACCA	0.592000													28	63					1.77063e-15	2.19236e-15	0.693898	1	0
WDR35	57539	broad.mit.edu	37	2	20153619	20153619	+	Missense_Mutation	SNP	C	C	A	rs146380332		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:20153619C>A	ENST00000345530.3	-	13	1524	c.1409G>T	c.(1408-1410)cGg>cTg	p.R470L	WDR35_ENST00000281405.4_Missense_Mutation_p.R459L|WDR35_ENST00000416055.2_Missense_Mutation_p.R35L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	470								p.R470L(2)|p.R470Q(1)		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)					TTTTCGAGACCGTGTGATCTG	0.378000													50	352					9.16383e-17	1.15781e-16	0.870114	1	0
USH2A	7399	broad.mit.edu	37	1	216052133	216052133	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:216052133G>C	ENST00000366943.2	-	42	8917	c.8531C>G	c.(8530-8532)cCa>cGa	p.P2844R	USH2A_ENST00000307340.3_Missense_Mutation_p.P2844R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2844	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P2844R(2)		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)		TGGCTTGGATGGTGGTTGCCA	0.433000										HNSCC(13;0.011)			20	70					0	0	0.624587	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs143747399	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433000													2	7					0	0	0.115264	0	0
CLMN	79789	broad.mit.edu	37	14	95677189	95677189	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:95677189C>G	ENST00000298912.4	-	7	749	c.636G>C	c.(634-636)gcG>gcC	p.A212A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	212	Actin-binding.|CH 2.					integral to membrane	actin binding	p.A212A(1)		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)		TCCAACTGCCCGCAAAGTCCT	0.562000													31	154					0	0	0.840704	0	0
GCAT	23464	broad.mit.edu	37	22	38212280	38212280	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:38212280G>T	ENST00000323205.6	+	8	1201	c.1138G>T	c.(1138-1140)Ggt>Tgt	p.G380C	GCAT_ENST00000248924.6_Missense_Mutation_p.G354C	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	354					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.G354C(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGTGATGCTGGGTGATGCCCG	0.577000													6	29					2.0095e-06	2.19658e-06	0.248553	1	0
TBX18	9096	broad.mit.edu	37	6	85446428	85446428	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:85446428G>C	ENST00000369663.5	-	8	2136	c.1799C>G	c.(1798-1800)tCt>tGt	p.S600C	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	600					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S600C(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGATACTTGAGATGATGACAG	0.413000													31	57					0	0	0.796494	0	0
UNC13C	440279	broad.mit.edu	37	15	54306827	54306827	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:54306827G>T	ENST00000545554.1	+	1	1727	c.1727G>T	c.(1726-1728)aGc>aTc	p.S576I	UNC13C_ENST00000260323.11_Missense_Mutation_p.S576I|UNC13C_ENST00000537900.1_Missense_Mutation_p.S576I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	576					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S576I(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTAATGGAAGCTCTCTCCTG	0.433000													15	58					9.16793e-09	1.04754e-08	0.520397	1	0
SAT1	6303	broad.mit.edu	37	X	23801932	23801932	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:23801932G>A	ENST00000379270.4	+	3	313	c.134G>A	c.(133-135)gGt>gAt	p.G45D	SAT1_ENST00000379254.1_Intron|SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379251.3_Missense_Mutation_p.G75D|SAT1_ENST00000379253.3_Missense_Mutation_p.G45D	NM_002970.2	NP_002961.1	P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	45	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding	p.G75D(2)|p.G45D(2)		breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	CTAGAAGATGGTTTTGGAGAG	0.587000													16	13					0	0	0.539581	0	0
ROBO2	6092	broad.mit.edu	37	3	77600017	77600017	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:77600017G>T	ENST00000461745.1	+	8	2008	c.1108G>T	c.(1108-1110)Gtg>Ttg	p.V370L	ROBO2_ENST00000487694.3_Missense_Mutation_p.V386L|ROBO2_ENST00000332191.8_Missense_Mutation_p.V370L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	370	Ig-like C2-type 4.				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.V386L(2)|p.V370L(2)		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)		TAGATGCTCAGTGTCACCAAC	0.443000													28	37					3.99451e-17	5.07511e-17	0.740014	1	0
ERO1LB	56605	broad.mit.edu	37	1	236389807	236389807	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:236389807C>A	ENST00000354619.5	-	12	1015	c.814G>T	c.(814-816)Ggt>Tgt	p.G272C		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	272					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	p.G272C(1)		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)			CTGGGCTTACCCCAGGTTTCT	0.358000													5	37					5.18039e-06	5.62655e-06	0.278610	1	0
CYP26A1	1592	broad.mit.edu	37	10	94834752	94834752	+	Missense_Mutation	SNP	G	G	T	rs149343022	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:94834752G>T	ENST00000371531.1	+	3	802	c.424G>T	c.(424-426)Gtg>Ttg	p.V142L	CYP26A1_ENST00000394139.1_Missense_Mutation_p.V142L|CYP26A1_ENST00000224356.4_Missense_Mutation_p.V211L	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	211					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.V142L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				GCAGCAGCTTGTGGAGGCCTT	0.647000													4	21					1.024e-07	1.14695e-07	0.184627	1	0
ZSCAN20	7579	broad.mit.edu	37	1	33954745	33954745	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:33954745C>T	ENST00000361328.3	+	4	788	c.635C>T	c.(634-636)cCa>cTa	p.P212L	ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Intron	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	212					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P212L(2)		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)				CCTACTCTCCCAAAGATGGGG	0.517000													11	93					0	0	0.411799	0	0
POU2F3	25833	broad.mit.edu	37	11	120175882	120175882	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:120175882G>A	ENST00000260264.4	+	7	628	c.594G>A	c.(592-594)aaG>aaA	p.K198K	POU2F3_ENST00000543440.2_Silent_p.K196K	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	196	POU-specific.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	p.K196K(2)		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)		AGTTTGCCAAGACCTTCAAGC	0.567000													5	72					0	0	0.217242	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683294	84683294	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:84683294G>T	ENST00000286744.5	+	24	4198	c.3973_splice	c.e24-1	p.G1325_splice	ADAMTSL3_ENST00000567476.1_Splice_Site_p.G1325_splice	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1325	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.?(2)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTTCCAAAGGTGTCCCTCAG	0.418000													29	260					3.90053e-15	4.80336e-15	0.760397	1	0
IL16	3603	broad.mit.edu	37	15	81591951	81591951	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:81591951G>A	ENST00000394660.2	+	14	2644	c.2284G>A	c.(2284-2286)Gac>Aac	p.D762N	IL16_ENST00000394652.2_Missense_Mutation_p.D61N|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000302987.4_Missense_Mutation_p.D762N	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	762					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.D762N(2)|p.D716N(2)		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						ACCAAAGCTGGACACCGCCAA	0.562000													10	48					0	0	0.457914	0	0
CR1L	1379	broad.mit.edu	37	1	207867885	207867885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:207867885G>A	ENST00000508064.2	+	5	711	c.651G>A	c.(649-651)tgG>tgA	p.W217*	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	217	Sushi 3.					cytoplasm|extracellular region|membrane		p.W217*(2)|p.W225*(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGGCATCTGGAGTGGCCCAG	0.463000													48	521					0	0	0.870114	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21011691	21011691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:21011691G>T	ENST00000495827.1	-	5	432	c.387C>A	c.(385-387)taC>taA	p.Y129*	PTPLAD2_ENST00000513293.2_Nonsense_Mutation_p.Y129*	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	129					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	p.Y129*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TGCTATAAGTGTACCTGAAAG	0.368000													13	18					1.3612e-06	1.49272e-06	0.479597	1	0
KLF10	7071	broad.mit.edu	37	8	103664623	103664623	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:103664623C>G	ENST00000395884.3	-	2	908	c.6G>C	c.(4-6)gaG>gaC	p.E2D	KLF10_ENST00000285407.6_Missense_Mutation_p.E13D	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	13					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	p.E13D(1)		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)			CCATTCTTTCCTCCTATAAAA	0.303000													9	60					0	0	0.387290	0	0
CACNA1E	777	broad.mit.edu	37	1	181548245	181548245	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:181548245G>T	ENST00000526775.1	+	5	819	c.654G>T	c.(652-654)atG>atT	p.M218I	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.M169I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.M218I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.M218I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.M218I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M169I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	218					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.M218I(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGAAGGCCATGGTACCTCTTC	0.488000													25	490					2.21704e-12	2.65343e-12	0.639603	1	0
CEP55	55165	broad.mit.edu	37	10	95263113	95263113	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:95263113G>C	ENST00000371485.3	+	3	731	c.427G>C	c.(427-429)Gaa>Caa	p.E143Q		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	143					cell division|mitosis	centriole|cleavage furrow|midbody		p.E143Q(2)		kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				TGCTGAACTTGAAAGCAAAAC	0.383000													34	115					0	0	0.870114	0	0
EIF3H	8667	broad.mit.edu	37	8	117658741	117658741	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:117658741C>A	ENST00000521861.1	-	7	953	c.930G>T	c.(928-930)ccG>ccT	p.P310P	EIF3H_ENST00000276682.4_Silent_p.P324P	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	310					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.P310P(2)		large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					TCCTGGCAGGCGGCTGTGGTG	0.552000													67	297					9.4991e-31	1.29378e-30	0.870114	1	0
GPR34	2857	broad.mit.edu	37	X	41554925	41554925	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:41554925C>G	ENST00000378142.4	+	3	323	c.39C>G	c.(37-39)gtC>gtG	p.V13V	CASK_ENST00000421587.2_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|GPR34_ENST00000378138.5_Silent_p.V13V|CASK_ENST00000318588.9_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	13						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.V13V(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						CAACTTCAGTCAGCAGCTGGC	0.423000													15	358					0	0	0.457914	0	0
ZNF292	23036	broad.mit.edu	37	6	87968870	87968870	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:87968870A>T	ENST00000369577.3	+	8	5566	c.5523A>T	c.(5521-5523)ttA>ttT	p.L1841F	ZNF292_ENST00000339907.4_Missense_Mutation_p.L1836F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1841					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L1696F(2)|p.L1841F(2)		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)		AGGAAATTTTAGAAGGCTTAC	0.373000													21	16					0	0	0.592651	0	0
SLC6A16	28968	broad.mit.edu	37	19	49814442	49814442	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:49814442G>A	ENST00000454748.3	-	2	364	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	SLC6A16_ENST00000335875.4_Missense_Mutation_p.R55W			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	55						integral to membrane|intracellular	neurotransmitter:sodium symporter activity	p.R55W(3)		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)		TCTGCAACCCGGGCTGCTGAA	0.542000													9	41					0	0	0.307466	0	0
RELN	5649	broad.mit.edu	37	7	103155820	103155820	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:103155820C>T	ENST00000428762.1	-	50	8090	c.7931G>A	c.(7930-7932)aGa>aAa	p.R2644K	RELN_ENST00000424685.2_Missense_Mutation_p.R2644K|RELN_ENST00000343529.5_Missense_Mutation_p.R2644K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2644					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	p.R2644K(2)		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)		GCCGTCATGTCTTGGCTGCCA	0.532000													17	100					0	0	0.608945	0	0
TRIML2	205860	broad.mit.edu	37	4	189022242	189022242	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:189022242C>T	ENST00000512729.1	-	3	672	c.298G>A	c.(298-300)Gag>Aag	p.E100K	TRIML2_ENST00000326754.3_Missense_Mutation_p.E100K|TRIML2_ENST00000536972.1_Missense_Mutation_p.E150K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	100							ligase activity	p.E100K(2)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCCTCTAGCTCGGTGGCAAGC	0.413000													12	58					0	0	0.411799	0	0
RYR2	6262	broad.mit.edu	37	1	237948114	237948114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:237948114G>T	ENST00000366574.2	+	90	13419	c.13102G>T	c.(13102-13104)Gag>Tag	p.E4368*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E4374*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E4352*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4368					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	p.K4365_E4366>N*(2)		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)			CGACTTAAAGGAGCTGACAGA	0.537000													53	91					8.81991e-31	1.20368e-30	0.870114	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5190105	5190105	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:5190105C>T	ENST00000274181.7	+	7	1207	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H357Y	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	357	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.H357Y(4)		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						GATAAGTCACCACGCAGACCA	0.488000													65	108					0	0	0.870114	0	0
PIK3CB	5291	broad.mit.edu	37	3	138375084	138375084	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:138375084A>G	ENST00000477593.1	-	22	3048	c.2975T>C	c.(2974-2976)aTt>aCt	p.I992T	PIK3CB_ENST00000289153.2_Missense_Mutation_p.I992T|PIK3CB_ENST00000544716.1_Missense_Mutation_p.I443T			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	992	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.I992T(2)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCGTCGTAAAATCAGATATGC	0.458000													59	170					0	0	0.870114	0	0
NLRP8	126205	broad.mit.edu	37	19	56490839	56490839	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:56490839C>A	ENST00000291971.3	+	9	3027	c.2956C>A	c.(2956-2958)Ctg>Atg	p.L986M	NLRP8_ENST00000590542.1_Missense_Mutation_p.L967M	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	986						cytoplasm	ATP binding	p.L986M(2)		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)		TCTGAGACATCTGGACTTGAG	0.488000													144	139					3.42953e-66	4.89625e-66	0.870114	1	0
RGS1	5996	broad.mit.edu	37	1	192547445	192547445	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:192547445A>G	ENST00000367459.3	+	4	440	c.374A>G	c.(373-375)gAg>gGg	p.E125G	RGS1_ENST00000469578.2_Missense_Mutation_p.E125G	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	125	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.E125R(1)|p.E112R(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				AAGAAAACAGAGTCTGATCTT	0.363000													56	162					0	0	0.870114	0	0
OTOA	146183	broad.mit.edu	37	16	21739597	21739597	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:21739597C>T	ENST00000388958.3	+	19	2053	c.2052C>T	c.(2050-2052)atC>atT	p.I684I	OTOA_ENST00000388956.4_Silent_p.I605I|OTOA_ENST00000388957.3_Silent_p.I360I|OTOA_ENST00000286149.4_Silent_p.I698I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	698					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.I684I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTGTGGACATCATGGGGAACC	0.557000													151	269					0	0	0.870114	0	0
KCNA2	3737	broad.mit.edu	37	1	111146592	111146592	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:111146592C>T	ENST00000485317.1	-	3	1486	c.813G>A	c.(811-813)ggG>ggA	p.G271G	KCNA2_ENST00000440270.1_Silent_p.G271G|KCNA2_ENST00000316361.4_Silent_p.G271G|KCNA2_ENST00000369770.3_Silent_p.G271G			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	271						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G271G(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CCAACTCTGTCCCCAGGGTGA	0.532000													16	91					0	0	0.520397	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43856734	43856734	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:43856734C>T	ENST00000389420.3	-	11	1577	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V	ADAMTS20_ENST00000553158.1_Silent_p.V526V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	526	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding	p.V526V(4)		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)		CTGCTGGTGGCACGTGTTGAG	0.463000													10	24					0	0	0.387290	0	0
PLAT	5327	broad.mit.edu	37	8	42046532	42046532	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:42046532C>G	ENST00000220809.4	-	4	429	c.173G>C	c.(172-174)cGc>cCc	p.R58P	PLAT_ENST00000519510.1_Missense_Mutation_p.R58P|PLAT_ENST00000524009.1_Missense_Mutation_p.R58P|PLAT_ENST00000429710.2_Missense_Mutation_p.R58P|PLAT_ENST00000429089.2_Missense_Mutation_p.R58P|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000270189.6_Missense_Mutation_p.R58P	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	58	Fibronectin type-I.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.R58P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAGCACAGGGCGCAGCCATGA	0.502000													110	477					0	0	0.870114	0	0
TTC22	55001	broad.mit.edu	37	1	55266541	55266541	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:55266541T>C	ENST00000371276.4	-	1	399	c.296A>G	c.(295-297)aAc>aGc	p.N99S	TTC22_ENST00000371274.4_Missense_Mutation_p.N99S	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	99							binding	p.N99S(4)		kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						GGCATTGAGGTTGCCCGGGTG	0.687000													3	10					0	0	0.115264	0	0
LIPM	340654	broad.mit.edu	37	10	90572926	90572926	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:90572926A>T	ENST00000539337.1	+	4	473	c.218A>T	c.(217-219)aAc>aTc	p.N73I	LIPM_ENST00000404743.4_Missense_Mutation_p.N113I			Q5VYY2	LIPM_HUMAN	lipase, family member M	113					lipid catabolic process	extracellular region	hydrolase activity	p.N113I(2)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)|skin(1)	7						AACCTGCCCAACAATAGCCTG	0.498000													6	20					0	0	0.217242	0	0
SNHG14	104472715	broad.mit.edu	37	15	25440127	25440127	+	RNA	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:25440127C>A	ENST00000424208.1	+	0	1460				SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1																						AAATCATGCTCAATAGGATTA	0.493000													19	72					3.08376e-08	3.48844e-08	0.654019	1	0
GNPDA2	132789	broad.mit.edu	37	4	44713078	44713078	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:44713078T>C	ENST00000509756.1	-	5	592	c.486A>G	c.(484-486)ctA>ctG	p.L162L	GNPDA2_ENST00000507917.1_Silent_p.L128L|GNPDA2_ENST00000507534.1_Silent_p.L92L|GNPDA2_ENST00000295448.3_Silent_p.L162L|GNPDA2_ENST00000511187.1_Intron			Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	162					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	p.L162L(2)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TATCCATTGCTAGAGTCTTTA	0.393000													20	59					0	0	0.592651	0	0
DSCAML1	57453	broad.mit.edu	37	11	117308768	117308768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:117308768G>T	ENST00000321322.6	-	25	4456	c.4455C>A	c.(4453-4455)agC>agA	p.S1485R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1215R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1425	Fibronectin type-III 6.				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.S1485R(2)		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)		TCCACTCCTCGCTGTTGTCCA	0.602000													56	44					1.1362e-29	1.54133e-29	0.870114	1	0
ZNF644	84146	broad.mit.edu	37	1	91406850	91406850	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:91406850C>A	ENST00000370440.1	-	3	278	c.61G>T	c.(61-63)Ggg>Tgg	p.G21W	ZNF644_ENST00000337393.5_Missense_Mutation_p.G21W|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G21W(3)		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)		TTGGCAAGCCCATTTAACACA	0.299000													24	76					3.90053e-15	4.80336e-15	0.760397	1	0
RTN4	57142	broad.mit.edu	37	2	55253145	55253145	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:55253145A>G	ENST00000337526.6	-	3	2333	c.2090T>C	c.(2089-2091)aTt>aCt	p.I697T	RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.I491T|RTN4_ENST00000357376.3_Missense_Mutation_p.I491T|RTN4_ENST00000405240.1_Missense_Mutation_p.I491T|RTN4_ENST00000354474.6_Missense_Mutation_p.I465T|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.I491T	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	697					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	p.I491T(2)|p.I697T(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						ATCACATGCAATAGATATATA	0.343000													20	32					0	0	0.624587	0	0
PIK3CG	5294	broad.mit.edu	37	7	106524641	106524641	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:106524641C>T	ENST00000359195.3	+	9	3112	c.2802C>T	c.(2800-2802)ggC>ggT	p.G934G	PIK3CG_ENST00000496166.1_Silent_p.G934G|PIK3CG_ENST00000440650.2_Silent_p.G934G	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	934	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.G934G(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCTGTGCAGGCTACTGTGTGG	0.363000													58	118					0	0	0.870114	0	0
TMEM106C	79022	broad.mit.edu	37	12	48358151	48358151	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:48358151C>T	ENST00000429772.2	+	2	245	c.132C>T	c.(130-132)acC>acT	p.T44T	TMEM106C_ENST00000549288.1_Silent_p.T44T|TMEM106C_ENST00000550552.1_Silent_p.T44T|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000256686.6_Silent_p.T44T|TMEM106C_ENST00000552561.1_Silent_p.T44T|TMEM106C_ENST00000449758.2_Silent_p.T44T	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	44						endoplasmic reticulum membrane|integral to membrane		p.T44T(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TGGAATTCACCGGGAGAGATA	0.537000													51	70					0	0	0.870114	0	0
IL10RA	3587	broad.mit.edu	37	11	117870171	117870171	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:117870171C>A	ENST00000227752.3	+	7	1672	c.1552C>A	c.(1552-1554)Cag>Aag	p.Q518K	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.Q498K|IL10RA_ENST00000545409.1_Missense_Mutation_p.Q369K	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	518						integral to membrane|plasma membrane	interleukin-10 receptor activity	p.Q518K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ACAGTGGAACCAGCCCACTGA	0.577000													19	15					5.03518e-11	5.92221e-11	0.557998	1	0
TRBV6-4	28603	broad.mit.edu	37	7	142250802	142250802	+	RNA	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:142250802C>A	ENST00000390360.3	-	0	265																											GACACTATAACCATCAGGGAC	0.488000													39	174					6.2361e-21	8.15122e-21	0.834066	1	0
LRBA	987	broad.mit.edu	37	4	151765810	151765810	+	Splice_Site	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:151765810C>G	ENST00000535741.1	-	27	4934	c.4461_splice	c.e27+1	p.K1487_splice	LRBA_ENST00000507224.1_Splice_Site_p.K1487_splice|LRBA_ENST00000510413.1_Splice_Site_p.K1487_splice|LRBA_ENST00000357115.3_Splice_Site_p.K1487_splice			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1487						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.K1487N(2)		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)					GTATACTTACCTTCGCTGCAG	0.323000													22	38					0	0	0.729181	0	0
OR10G4	390264	broad.mit.edu	37	11	123887150	123887150	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:123887150G>A	ENST00000320891.4	+	1	869	c.869G>A	c.(868-870)aGa>aAa	p.R290K		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R290K(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		TACACCCTGAGAAACAAGGAG	0.433000													101	128					0	0	0.870114	0	0
ZNF716	441234	broad.mit.edu	37	7	57528739	57528739	+	Missense_Mutation	SNP	G	G	T	rs147112692	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:57528739G>T	ENST00000420713.1	+	4	684	c.572G>T	c.(571-573)gGc>gTc	p.G191V		NM_001159279.1	NP_001152751.1			zinc finger protein 716									p.G191V(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAAAACGATGGCAAATCATTT	0.343000													11	22					0.000978159	0.00101854	0.387290	1	0
HBD	3045	broad.mit.edu	37	11	5255426	5255426	+	Missense_Mutation	SNP	G	G	T	rs34383555		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:5255426G>T	ENST00000380299.3	-	2	324	c.110C>A	c.(109-111)cCt>cAt	p.P37H	HBD_ENST00000292901.3_Missense_Mutation_p.P37H	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	37			P -> H (in Metaponto; dbSNP:rs34383555).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.P37H(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGTCCAAGGGTAGACCAC	0.517000													75	213					9.25274e-37	1.28857e-36	0.870114	1	0
DNM1P46	196968	broad.mit.edu	37	15	100332548	100332548	+	RNA	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:100332548G>A	ENST00000341853.1	-	0	1643				AC090825.1_ENST00000408584.1_RNA	NR_003260.1																						AGGGCCGTCGGAGGGACCTCA	0.587000													9	19					0	0	0.307466	0	0
ARMC3	219681	broad.mit.edu	37	10	23292330	23292330	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:23292330A>G	ENST00000298032.5	+	13	1802	c.1718A>G	c.(1717-1719)tAt>tGt	p.Y573C	ARMC3_ENST00000376528.4_Missense_Mutation_p.Y310C|ARMC3_ENST00000409983.3_Missense_Mutation_p.Y573C|ARMC3_ENST00000409049.3_Missense_Mutation_p.Y573C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	573							binding	p.Y573C(2)		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						GATGGATTCTATGATTATGGT	0.333000													71	86					0	0	0.870114	0	0
OR2A14	135941	broad.mit.edu	37	7	143827010	143827010	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:143827010C>A	ENST00000408899.2	+	1	860	c.805C>A	c.(805-807)Cag>Aag	p.Q269K		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q269K(2)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TCCTGAGGAGCAGCAGAAAGT	0.552000													32	167					1.414e-09	1.62933e-09	0.788014	1	0
OR11A1	26531	broad.mit.edu	37	6	29394899	29394899	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:29394899G>A	ENST00000377149.1	-	5	992	c.520C>T	c.(520-522)Cac>Tac	p.H174Y	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Missense_Mutation_p.H174Y|OR11A1_ENST00000377147.2_Missense_Mutation_p.H174Y			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H174Y(2)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						TGGTCAATGTGGTTGGGGCCA	0.547000													61	148					0	0	0.870114	0	0
IST1	9798	broad.mit.edu	37	16	71955338	71955338	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:71955338A>T	ENST00000378799.6	+	6	890	c.534A>T	c.(532-534)gaA>gaT	p.E178D	IST1_ENST00000538850.1_Missense_Mutation_p.E30D|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000535424.1_Missense_Mutation_p.E191D|IST1_ENST00000378798.5_Missense_Mutation_p.E178D|IST1_ENST00000329908.8_Missense_Mutation_p.E178D|IST1_ENST00000606369.1_Missense_Mutation_p.E30D|IST1_ENST00000544564.1_Missense_Mutation_p.E178D|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000541571.2_Missense_Mutation_p.E178D	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	178	Interaction with VPS37B.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	p.E178D(2)									TACCCTATGAACCTGACTCTG	0.393000													9	57					0	0	0.361761	0	0
DCDC1	341019	broad.mit.edu	37	11	31312213	31312213	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:31312213C>A	ENST00000597505.1	-	5	940	c.941G>T	c.(940-942)gGa>gTa	p.G314V	DCDC1_ENST00000452803.1_Missense_Mutation_p.G314V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	314					intracellular signal transduction			p.G314L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTTTCTTTTCCCACTGTAAT	0.328000													12	42					9.05144e-12	1.07575e-11	0.435327	1	0
ANKLE2	23141	broad.mit.edu	37	12	133331681	133331681	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:133331681G>C	ENST00000539605.1	-	1	6718	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V	ANKLE2_ENST00000337516.5_Missense_Mutation_p.L74V|ANKLE2_ENST00000357997.5_Missense_Mutation_p.L74V			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	74						cytoplasm|integral to membrane|nuclear envelope		p.L74V(2)		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)		GGATTCAGAAGTTTCAATCGA	0.403000													11	64					0	0	0.520397	0	0
PRKCA	5578	broad.mit.edu	37	17	64800011	64800011	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:64800011C>A	ENST00000413366.3	+	17	1901	c.1875C>A	c.(1873-1875)aaC>aaA	p.N625K		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	625	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.N625K(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GAGCAGAGAACTTTGACAAGT	0.493000													6	35					1.06961e-07	1.19607e-07	0.278610	1	0
WDR7	23335	broad.mit.edu	37	18	54446673	54446673	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:54446673T>C	ENST00000254442.3	+	18	3170	c.2959T>C	c.(2959-2961)Tta>Cta	p.L987L	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.L954L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	987								p.L987L(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTGGAGTCAGTTAGCTGCTAT	0.403000													115	65					0	0	0.870114	0	0
DCTN1	1639	broad.mit.edu	37	2	74597136	74597136	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:74597136G>C	ENST00000361874.3	-	13	1665	c.1348C>G	c.(1348-1350)Ctg>Gtg	p.L450V	DCTN1_ENST00000409868.1_Missense_Mutation_p.L433V|DCTN1_ENST00000409240.1_Missense_Mutation_p.L413V|DCTN1_ENST00000407639.2_Missense_Mutation_p.L316V|DCTN1_ENST00000394003.3_Missense_Mutation_p.L443V|DCTN1_ENST00000409567.3_Missense_Mutation_p.L430V|DCTN1_ENST00000409438.1_Missense_Mutation_p.L316V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	450					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	p.L450V(1)		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						TTCTCTTCCAGATTCAGGTTC	0.537000													71	293					0	0	0.870114	0	0
GRM7	2917	broad.mit.edu	37	3	7620536	7620536	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:7620536C>T	ENST00000486284.1	+	8	2217	c.1943C>T	c.(1942-1944)gCc>gTc	p.A648V	GRM7_ENST00000402647.2_Missense_Mutation_p.A648V|GRM7_ENST00000357716.4_Missense_Mutation_p.A648V|GRM7_ENST00000389336.4_Missense_Mutation_p.A648V|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.A648V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	648					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	p.A648V(2)		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)	CTGATGATTGCCAAACCAGAT	0.473000													21	82					0	0	0.639603	0	0
DBX2	440097	broad.mit.edu	37	12	45410296	45410296	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:45410296G>T	ENST00000332700.6	-	4	964	c.793C>A	c.(793-795)Ctc>Atc	p.L265I		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	265						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L265I(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GACCGTGAGAGGGGATCCTCT	0.483000													47	172					1.67211e-32	2.29578e-32	0.870114	1	0
L1CAM	3897	broad.mit.edu	37	X	153134081	153134081	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:153134081C>T	ENST00000370060.1	-	13	1670	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	L1CAM_ENST00000361981.3_Missense_Mutation_p.R489H|L1CAM_ENST00000543994.1_Missense_Mutation_p.R496H|L1CAM_ENST00000538883.1_Missense_Mutation_p.R496H|L1CAM_ENST00000361699.4_Missense_Mutation_p.R494H|L1CAM_ENST00000370055.1_Missense_Mutation_p.R489H|L1CAM_ENST00000370057.3_Missense_Mutation_p.R494H	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	494	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.R494H(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAAGTAGCGTCCGGTGTC	0.552000													30	9					0	0	0.760397	0	0
AOC2	314	broad.mit.edu	37	17	40996773	40996773	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:40996773G>A	ENST00000253799.3	+	1	157	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	AOC2_ENST00000452774.2_Missense_Mutation_p.A44T	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	44					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.A44T(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ATCCCATAGGGCCCAGCCCTG	0.627000													36	324					0	0	0.827153	0	0
TUBG2	27175	broad.mit.edu	37	17	40818442	40818442	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:40818442C>T	ENST00000251412.7	+	10	1297	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	366					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	p.Y366Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AGTCTCCCTACCTGCCCTCGG	0.602000													7	66					0	0	0.335167	0	0
PMS2CL	441194	broad.mit.edu	37	7	6777369	6777369	+	RNA	SNP	T	T	C	rs35291651	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:6777369T>C	ENST00000486256.1	+	0	1496					NR_002217.1																						ACGTGTCAGCTTCTCAGGTTG	0.348000													2	11					0	0	0.115264	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209141468	209141468	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:209141468G>T	ENST00000264380.4	+	4	513	c.355G>T	c.(355-357)Ggt>Tgt	p.G119C	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.G119C|PIKFYVE_ENST00000308862.6_Intron|PIKFYVE_ENST00000392202.3_Intron	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	119					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.G119C(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TACCTTTGGAGGTCATGACCC	0.428000													45	124					3.88204e-17	4.94143e-17	0.870114	1	0
DPP6	1804	broad.mit.edu	37	7	154379663	154379663	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:154379663G>T	ENST00000406326.1	+	6	1334	c.931G>T	c.(931-933)Gca>Tca	p.A311S	DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.A311S(2)		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)			TCGCAGCCATGCACCTGCAGC	0.592000													114	223					1.81142e-54	2.56461e-54	0.870114	1	0
SCN1A	6323	broad.mit.edu	37	2	166900188	166900188	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:166900188A>T	ENST00000423058.2	-	11	2051	c.2034T>A	c.(2032-2034)acT>acA	p.T678T	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Intron|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Silent_p.T678T|SCN1A_ENST00000409050.1_Intron|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	678						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T678T(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATTGTCATCAGTAGCTGGCT	0.463000													26	104					0	0	0.667858	0	0
PASK	23178	broad.mit.edu	37	2	242063433	242063433	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:242063433C>A	ENST00000403638.3	-	11	2926	c.2835G>T	c.(2833-2835)ctG>ctT	p.L945L	PASK_ENST00000539818.1_Silent_p.L729L|PASK_ENST00000234040.4_Silent_p.L945L|PASK_ENST00000358649.4_Silent_p.L945L|PASK_ENST00000405260.1_Silent_p.L945L|PASK_ENST00000544142.1_Silent_p.L759L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	945					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.L945L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGGCAAGGAACAGGCGGGTCC	0.647000													4	30					0.00909568	0.00927269	0.150653	1	0
ARHGEF6	9459	broad.mit.edu	37	X	135829672	135829672	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:135829672G>A	ENST00000250617.6	-	3	1534	c.329C>T	c.(328-330)aCa>aTa	p.T110I	ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	110	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.T110I(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTTACCTTCTGTTGCTTTGTT	0.403000													16	39					0	0	0.539581	0	0
HEATR6	63897	broad.mit.edu	37	17	58134604	58134604	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:58134604C>T	ENST00000184956.6	-	12	1900	c.1884G>A	c.(1882-1884)aaG>aaA	p.K628K	HEATR6_ENST00000585976.1_Silent_p.K628K	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	628							binding	p.K628K(2)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CAGGGGCTTTCTTCCACCAAT	0.517000													27	134					0	0	0.750413	0	0
EFTUD1	79631	broad.mit.edu	37	15	82533698	82533698	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:82533698C>A	ENST00000268206.7	-	5	459	c.291G>T	c.(289-291)gtG>gtT	p.V97V	EFTUD1_ENST00000359445.3_Silent_p.V46V	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	97					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	p.V97V(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGGAAAAGTCCACGTGTCCTG	0.423000													22	111					1.10513e-12	1.33203e-12	0.624587	1	0
LIMCH1	22998	broad.mit.edu	37	4	41687737	41687737	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:41687737G>C	ENST00000313860.7	+	23	2880	c.2826G>C	c.(2824-2826)caG>caC	p.Q942H	LIMCH1_ENST00000381753.4_Missense_Mutation_p.Q775H|LIMCH1_ENST00000513024.1_Missense_Mutation_p.Q795H|LIMCH1_ENST00000396595.3_Missense_Mutation_p.Q787H|LIMCH1_ENST00000511496.1_Missense_Mutation_p.Q782H|LIMCH1_ENST00000512820.1_Missense_Mutation_p.Q954H|LIMCH1_ENST00000512632.1_Missense_Mutation_p.Q865H|LIMCH1_ENST00000508501.1_Missense_Mutation_p.Q941H|LIMCH1_ENST00000512946.1_Missense_Mutation_p.Q942H|LIMCH1_ENST00000509277.1_Missense_Mutation_p.Q775H|LIMCH1_ENST00000503057.1_Missense_Mutation_p.Q1326H|LIMCH1_ENST00000514096.1_Missense_Mutation_p.Q782H	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	942					actomyosin structure organization		actin binding|zinc ion binding	p.Q942H(2)|p.Q1326H(2)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATCCATCCCAGAATCAGCAGA	0.428000													49	95					0	0	0.870114	0	0
HTR1F	3355	broad.mit.edu	37	3	88040798	88040798	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:88040798G>A	ENST00000319595.4	+	1	953	c.899G>A	c.(898-900)gGt>gAt	p.G300D		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	300					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	p.G300D(2)		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)	TTAATCTTGGGTGCATTTGTA	0.368000													3	15					0	0	0.115264	0	0
ZNF343	79175	broad.mit.edu	37	20	2464027	2464027	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:2464027C>A	ENST00000278772.4	-	6	2067	c.1580G>T	c.(1579-1581)gGg>gTg	p.G527V	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G527V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AAAGCCTCGCCCACATTCCCT	0.512000													55	135					3.7469e-33	5.15483e-33	0.870114	1	0
OR6N1	128372	broad.mit.edu	37	1	158735615	158735615	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:158735615G>A	ENST00000335094.2	-	1	877	c.858C>T	c.(856-858)aaC>aaT	p.N286N		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N286N(2)		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)					AGATGAAGGGGTTGAGGAAGG	0.527000													203	702					0	0	0.870114	0	0
OTOP2	92736	broad.mit.edu	37	17	72926822	72926822	+	Silent	SNP	G	G	A	rs150890021	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:72926822G>A	ENST00000331427.4	+	6	1184	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	OTOP2_ENST00000580223.1_Silent_p.T364T	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	364						integral to membrane		p.T364T(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGAACCCCACGCGCACTCTGG	0.617000													5	54					0	0	0.278610	0	0
POU3F4	5456	broad.mit.edu	37	X	82763575	82763575	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:82763575G>T	ENST00000373200.2	+	1	307	c.243G>T	c.(241-243)gtG>gtT	p.V81V	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	81					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	p.V81V(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGCAGGACGTGAAGCCCGGGC	0.667000													7	1					0.000442599	0.000463708	0.335167	1	0
SULT1B1	27284	broad.mit.edu	37	4	70592821	70592821	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:70592821G>C	ENST00000310613.2	-	8	1173	c.876C>G	c.(874-876)ttC>ttG	p.F292L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	292					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		p.F292L(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TCTCTGTGCGGAATTGAAGTG	0.393000													22	150					0	0	0.639603	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373677	86373677	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:86373677A>G	ENST00000604798.1	-	8	2031	c.827T>C	c.(826-828)tTa>tCa	p.L276S	MGAT4C_ENST00000549405.2_Missense_Mutation_p.L276S|MGAT4C_ENST00000548651.1_Missense_Mutation_p.L276S|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L276S|MGAT4C_ENST00000332156.1_Missense_Mutation_p.L276S|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.L305S			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	276					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.L276S(2)		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						AAACATTAATAAAAAATGGGC	0.383000													17	36					0	0	0.592651	0	0
SFMBT2	57713	broad.mit.edu	37	10	7325987	7325987	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:7325987G>A	ENST00000361972.4	-	6	741	c.651C>T	c.(649-651)cgC>cgT	p.R217R	SFMBT2_ENST00000397167.1_Silent_p.R217R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	217					regulation of transcription, DNA-dependent	nucleus		p.R217R(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						CATAGCGAAGGCGTAATCTTC	0.413000													34	378					0	0	0.804634	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236615	26236615	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:26236615T>G	ENST00000354667.4	-	5	491	c.323A>C	c.(322-324)cAt>cCt	p.H108P	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.H96P	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	108					RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	p.H108P(2)|p.H96P(2)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CACAGTTACATGAGCCCCTGG	0.383000			T	ETV1	prostate								7	46					0	0	0.278610	0	0
F2RL1	2150	broad.mit.edu	37	5	76128923	76128923	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:76128923T>A	ENST00000296677.4	+	2	697	c.491T>A	c.(490-492)cTc>cAc	p.L164H		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	164					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	p.L164H(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TGTTCCATTCTCTTCATGACC	0.468000													84	316					0	0	0.870114	0	0
CDH11	1009	broad.mit.edu	37	16	64981591	64981591	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:64981591T>C	ENST00000268603.4	-	13	2921	c.2306A>G	c.(2305-2307)tAt>tGt	p.Y769C	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.Y643C	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	769					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.Y769C(2)		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)		TAGATAATCATAGTCCAAGTC	0.448000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			78	90					0	0	0.870114	0	0
TOP3A	7156	broad.mit.edu	37	17	18193881	18193881	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:18193881C>A	ENST00000321105.5	-	13	1801	c.1587G>T	c.(1585-1587)aaG>aaT	p.K529N	TOP3A_ENST00000542570.1_Missense_Mutation_p.K434N|TOP3A_ENST00000540524.1_Missense_Mutation_p.K59N	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	529					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	p.K529N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CAATGCCATGCTTCTCCATGA	0.557000													5	24					0.000602214	0.000629	0.184627	1	0
AHNAK	79026	broad.mit.edu	37	11	62292744	62292744	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:62292744C>T	ENST00000378024.4	-	5	9419	c.9145G>A	c.(9145-9147)Gct>Act	p.A3049T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3049					nervous system development	nucleus	protein binding	p.A3049T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAAGGTCAGCCTTGGGCAGG	0.498000													13	261					0	0	0.575678	0	0
NLGN1	22871	broad.mit.edu	37	3	173993231	173993231	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:173993231T>C	ENST00000457714.1	+	5	1202	c.773T>C	c.(772-774)tTt>tCt	p.F258S	NLGN1_ENST00000401917.3_Missense_Mutation_p.F298S|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Missense_Mutation_p.F258S|NLGN1_ENST00000545397.1_Missense_Mutation_p.F258S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	275					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	p.F258S(1)		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)			ATCACTGTTTTTGGATCTGGT	0.428000													37	91					0	0	0.819951	0	0
PTPN4	5775	broad.mit.edu	37	2	120723109	120723109	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:120723109A>G	ENST00000263708.2	+	25	3217	c.2446A>G	c.(2446-2448)Ata>Gta	p.I816V	PTPN4_ENST00000544261.1_Missense_Mutation_p.I449V	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	816	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	p.I816V(2)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GATCCAGTACATAGCCTGGCC	0.408000													68	109					0	0	0.870114	0	0
BMPER	168667	broad.mit.edu	37	7	34091581	34091581	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:34091581G>T	ENST00000297161.2	+	9	1159	c.786_splice	c.e9+1	p.R262_splice	BMPER_ENST00000494786.1_3'UTR|BMPER_ENST00000426693.1_Splice_Site_p.R262_splice	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	262	VWFC 4.				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		p.R262M(2)		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						TGTACCTGCAGGGTAAGGCAG	0.453000													124	187					8.8899e-71	1.27453e-70	0.870114	1	0
THADA	63892	broad.mit.edu	37	2	43768305	43768305	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:43768305A>T	ENST00000405006.4	-	21	3608	c.3257T>A	c.(3256-3258)gTg>gAg	p.V1086E	THADA_ENST00000330266.7_Missense_Mutation_p.V796E|THADA_ENST00000415080.2_Missense_Mutation_p.V796E|THADA_ENST00000405975.2_Missense_Mutation_p.V1086E	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1086							binding	p.V1086E(2)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TACCTGCTCCACCGTCAATAA	0.388000													51	89					0	0	0.870114	0	0
NRSN2	80023	broad.mit.edu	37	20	334097	334097	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:334097G>A	ENST00000382291.3	+	4	673	c.433G>A	c.(433-435)Gac>Aac	p.D145N	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Missense_Mutation_p.D145N	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	145						integral to membrane|plasma membrane|transport vesicle		p.D145N(1)		endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTGAGCCAGGACACCAAGGC	0.632000													8	137					0	0	0.387290	0	0
IQSEC2	23096	broad.mit.edu	37	X	53283752	53283752	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:53283752G>C	ENST00000396435.3	-	4	1561	c.1361C>G	c.(1360-1362)tCt>tGt	p.S454C	IQSEC2_ENST00000375368.5_Missense_Mutation_p.S444C|IQSEC2_ENST00000375365.2_Missense_Mutation_p.S249C	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	444					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.S454C(1)|p.S451C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GATGTCATTAGAAAACTCTCC	0.567000													5	51					0	0	0.248553	0	0
NPAP1	23742	broad.mit.edu	37	15	24921525	24921525	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:24921525G>C	ENST00000329468.2	+	1	985	c.511G>C	c.(511-513)Ggg>Cgg	p.G171R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.G171R(2)									GCAGATCGAAGGGGAGGATGA	0.612000													7	41					0	0	0.361761	0	0
CREB3L2	64764	broad.mit.edu	37	7	137586170	137586170	+	Splice_Site	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:137586170T>A	ENST00000330387.6	-	8	1326		c.e8-2		CREB3L2_ENST00000456390.1_Splice_Site	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2						chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GACTCCACTCTACAAAGGAGG	0.463000			T	FUS	fibromyxoid sarcoma								8	58					0	0	0.335167	0	0
DLGAP1	9229	broad.mit.edu	37	18	3845280	3845280	+	Translation_Start_Site	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:3845280C>T	ENST00000400147.2	-	1	79	c.3G>A	c.(1-3)atG>atA	p.M1I	DLGAP1_ENST00000315677.3_Intron|DLGAP1_ENST00000539435.1_Start_Codon_SNP_p.M1I|DLGAP1_ENST00000581527.1_Intron|DLGAP1_ENST00000400155.1_Intron|DLGAP1_ENST00000515196.2_Intron|DLGAP1_ENST00000400149.3_Intron|DLGAP1_ENST00000400150.3_Intron|DLGAP1_ENST00000400145.2_Start_Codon_SNP_p.M1I|DLGAP1_ENST00000478161.1_Intron|DLGAP1_ENST00000581699.1_Intron|DLGAP1_ENST00000584874.1_Intron|DLGAP1_ENST00000534970.1_Intron	NM_001003809.2	NP_001003809.1	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	0					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.M1I(2)		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)				AAATTAAGTTCATTATTCATC	0.368000													18	122					0	0	0.624587	0	0
LIG1	3978	broad.mit.edu	37	19	48653355	48653355	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:48653355G>A	ENST00000263274.7	-	8	1106	c.687C>T	c.(685-687)agC>agT	p.S229S	LIG1_ENST00000536218.1_Silent_p.S161S|LIG1_ENST00000427526.2_Silent_p.S198S|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	229					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|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	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.S229S(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGAAGAAGCTGCTGAGCGTCT	0.612000								Nucleotide excision repair (NER)					5	91					0	0	0.278610	0	0
DCLK1	9201	broad.mit.edu	37	13	36700141	36700141	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:36700141C>A	ENST00000255448.4	-	2	345	c.134G>T	c.(133-135)cGc>cTc	p.R45L	DCLK1_ENST00000379892.4_Missense_Mutation_p.R45L|DCLK1_ENST00000360631.3_Missense_Mutation_p.R45L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	45					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	p.R45L(4)		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)		CTGCAGCGTGCGGGTGCGGTA	0.592000													35	42					5.73237e-09	6.56091e-09	0.819951	1	0
NFATC3	4775	broad.mit.edu	37	16	68225604	68225604	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:68225604G>A	ENST00000349223.5	+	9	3256	c.3032G>A	c.(3031-3033)aGc>aAc	p.S1011N	NFATC3_ENST00000575270.1_Missense_Mutation_p.S1011N|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.S1011N|NFATC3_ENST00000329524.4_Missense_Mutation_p.S1011N	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	1011					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.S1011N(4)		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)		GCAACTGTGAGCATTAAACCT	0.463000													101	137					0	0	0.870114	0	0
TRPC4	7223	broad.mit.edu	37	13	38266459	38266459	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:38266459G>T	ENST00000379705.3	-	4	1768	c.911C>A	c.(910-912)cCc>cAc	p.P304H	TRPC4_ENST00000379673.2_Missense_Mutation_p.P304H|TRPC4_ENST00000355779.2_Missense_Mutation_p.P304H|TRPC4_ENST00000379679.1_Missense_Mutation_p.P131H|TRPC4_ENST00000379681.3_Missense_Mutation_p.P304H|TRPC4_ENST00000338947.5_Missense_Mutation_p.P131H|TRPC4_ENST00000358477.2_Missense_Mutation_p.P304H|TRPC4_ENST00000447043.1_Missense_Mutation_p.P304H|TRPC4_ENST00000426868.2_Missense_Mutation_p.P304H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	304	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	p.P304H(4)		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)		TTGACAATTGGGCTGGGCAAC	0.438000													22	18					1.50039e-11	1.77698e-11	0.608945	1	0
TCF7L2	6934	broad.mit.edu	37	10	114925681	114925681	+	Missense_Mutation	SNP	G	G	T	rs66702705		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:114925681G>T	ENST00000545257.1	+	15	2317	c.1810G>T	c.(1810-1812)Gcc>Tcc	p.A604S	TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000536810.1_Missense_Mutation_p.A587S|TCF7L2_ENST00000543371.1_Missense_Mutation_p.A587S|TCF7L2_ENST00000542695.1_Missense_Mutation_p.A320S|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000355995.4_Missense_Mutation_p.A604S|TCF7L2_ENST00000369397.4_Missense_Mutation_p.A581S|TCF7L2_ENST00000538897.1_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	604					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.A581S(2)|p.A587S(2)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CAGCTCCCTGGCCGGGACCCA	0.587000			T	VTI1A	colorectal								7	41					0.000157383	0.000166167	0.278610	1	0
GBP3	2635	broad.mit.edu	37	1	89481013	89481013	+	Missense_Mutation	SNP	G	G	A	rs142900270	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:89481013G>A	ENST00000370481.4	-	3	495	c.275C>T	c.(274-276)aCc>aTc	p.T92I	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	92						integral to membrane	GTP binding|GTPase activity	p.T92I(2)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CAGGACTAAGGTGTGTTCTGG	0.458000													30	280					0	0	0.760397	0	0
FRY	10129	broad.mit.edu	37	13	32776615	32776615	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:32776615A>T	ENST00000380250.3	+	31	4465	c.3969A>T	c.(3967-3969)tcA>tcT	p.S1323S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.S1323S(2)		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)		CCCTCTTGTCATGTGAGCTGG	0.493000													39	66					0	0	0.840704	0	0
IMPG1	3617	broad.mit.edu	37	6	76728444	76728444	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:76728444G>A	ENST00000369950.3	-	7	987	c.798C>T	c.(796-798)tcC>tcT	p.S266S	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	266	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.S266S(2)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCTGAAGTTGGGACTTTCCTG	0.547000													21	94					0	0	0.608945	0	0
MASP1	5648	broad.mit.edu	37	3	186954049	186954049	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:186954049G>C	ENST00000296280.6	-	11	1835	c.1610C>G	c.(1609-1611)gCc>gGc	p.A537G	MASP1_ENST00000392472.2_Missense_Mutation_p.A424G|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	536	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.A537G(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CACCACTCGGGCAGCTGAGCT	0.567000													25	40					0	0	0.750413	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361663	105361663	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:105361663C>T	ENST00000297581.2	+	2	932	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	295					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.L295L(2)									AAACCTGGGGCTGTTTTTCCT	0.488000													75	191					0	0	0.870114	0	0
RNF126P1	376412	broad.mit.edu	37	17	55123079	55123079	+	RNA	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:55123079G>A	ENST00000567452.1	+	0	241					NR_002818.2																						GTTGGAGAACGCGGACCAGCA	0.602000													4	35					0	0	0.150653	0	0
ARAP2	116984	broad.mit.edu	37	4	36149346	36149346	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:36149346T>G	ENST00000303965.4	-	18	3512	c.3023A>C	c.(3022-3024)gAa>gCa	p.E1008A		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1008					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.E1008A(1)		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						TGTTAAGTTTTCAGCAAATAA	0.368000													5	42					0	0	0.278610	0	0
POTEH	23784	broad.mit.edu	37	22	16279286	16279286	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:16279286G>T	ENST00000343518.6	-	4	988	c.937C>A	c.(937-939)Ctg>Atg	p.L313M		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	313								p.L313M(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCAAGTAACAGTGGTGTGAGG	0.323000													21	370					4.72057e-08	5.32237e-08	0.667858	1	0
ZPBP2	124626	broad.mit.edu	37	17	38031554	38031554	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:38031554C>T	ENST00000377940.3	+	6	829	c.690C>T	c.(688-690)ttC>ttT	p.F230F	ZPBP2_ENST00000584588.1_Silent_p.F179F|ZPBP2_ENST00000348931.4_Silent_p.F252F	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	252					binding of sperm to zona pellucida	extracellular region		p.F252F(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			CATATATTTTCTACCATAACT	0.373000													6	77					0	0	0.217242	0	0
TRAV29DV5	28653	broad.mit.edu	37	14	22631522	22631522	+	RNA	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:22631522C>A	ENST00000390458.3	+	0	225																											CATCCCTGAGCGTCCAGGAAG	0.368000											OREG0022575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	9					2.17888e-05	2.33304e-05	0.335167	1	0
EXO1	9156	broad.mit.edu	37	1	242048689	242048689	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:242048689G>T	ENST00000366548.3	+	15	2878	c.2285G>T	c.(2284-2286)aGa>aTa	p.R762I	EXO1_ENST00000518483.1_Missense_Mutation_p.R762I|EXO1_ENST00000348581.5_Missense_Mutation_p.R762I	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	762	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	p.R762I(2)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GGACCTGCCAGAGCCAGTGGG	0.478000								Editing and processing nucleases					12	30					0.00244969	0.00252764	0.457914	1	0
RREB1	6239	broad.mit.edu	37	6	7240734	7240734	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:7240734G>C	ENST00000379938.2	+	11	4409	c.3872G>C	c.(3871-3873)cGc>cCc	p.R1291P	RREB1_ENST00000334984.6_Missense_Mutation_p.R1291P|RREB1_ENST00000379933.3_Intron|RREB1_ENST00000349384.6_Intron	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1272					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.R1291P(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AACTGTGAACGCCACCAGTTG	0.438000													43	153					0	0	0.870114	0	0
GHRHR	2692	broad.mit.edu	37	7	31010827	31010827	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:31010827C>G	ENST00000409904.3	+	2	526	c.268C>G	c.(268-270)Ctc>Gtc	p.L90V	GHRHR_ENST00000409316.1_5'UTR|GHRHR_ENST00000326139.2_Missense_Mutation_p.L154V			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	154					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	p.L154V(2)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CCTGGTTGCTCTCAGGTTTGT	0.493000													2	2					0	0	0.115264	0	0
MIR656	724026	broad.mit.edu	37	14	101533098	101533098	+	RNA	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:101533098T>A	ENST00000385224.1	+	0	38					NR_030392.1																						ACTTTCTATATGATGAATATT	0.522000													18	60					0	0	0.539581	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481535	140481535	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:140481535G>C	ENST00000231130.2	+	1	1302	c.1302G>C	c.(1300-1302)aaG>aaC	p.K434N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		434	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.K434N(2)		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)			TGAAAACCAAGTACAACATAA	0.562000													10	75					0	0	0.361761	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906014	144906014	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:144906014C>A	ENST00000370490.1	+	1	6326	c.2071C>A	c.(2071-2073)Cct>Act	p.P691T	SLITRK2_ENST00000434188.2_Missense_Mutation_p.P691T|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P691T|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P691T|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P691T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	691						integral to membrane		p.P691T(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TATCCCCCCACCTGTGGGTCA	0.468000													27	12					1.61788e-16	2.03655e-16	0.760397	1	0
SRCAP	10847	broad.mit.edu	37	16	30721220	30721220	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:30721220C>T	ENST00000262518.4	+	8	1290	c.905C>T	c.(904-906)aCg>aTg	p.T302M	SRCAP_ENST00000344771.4_Missense_Mutation_p.T302M|SRCAP_ENST00000395059.2_Missense_Mutation_p.T302M	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	302	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.T302M(2)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GATGAGGAAACGATTGAAGTT	0.532000													8	100					0	0	0.307466	0	0
TTN	7273	broad.mit.edu	37	2	179395627	179395627	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:179395627G>T	ENST00000589042.1	-	358	105939	c.105715C>A	c.(105715-105717)Cct>Act	p.P35239T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P26366T|TTN_ENST00000591111.1_Missense_Mutation_p.P33598T|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26299T|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P26174T|TTN_ENST00000342992.6_Missense_Mutation_p.P32671T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33598							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P26299T(1)|p.P26366T(1)|p.P26174T(1)|p.P32671T(1)|p.P32669T(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)			TTCACCCGAGGCTCTGGGGAT	0.483000													62	120					1.78668e-44	2.51391e-44	0.870114	1	0
MUC7	4589	broad.mit.edu	37	4	71346890	71346890	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:71346890A>C	ENST00000413702.1	+	4	717	c.429A>C	c.(427-429)gaA>gaC	p.E143D	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.E143D|MUC7_ENST00000304887.5_Missense_Mutation_p.E143D	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	143	Thr-rich.					extracellular region	protein binding	p.E143D(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CTTCAAGAGAAAATGTTAACA	0.458000													76	405					0	0	0.870114	0	0
USP9X	8239	broad.mit.edu	37	X	41000347	41000347	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:41000347A>G	ENST00000324545.7	+	8	1532	c.899A>G	c.(898-900)aAt>aGt	p.N300S	USP9X_ENST00000378308.2_Missense_Mutation_p.N300S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	300					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.N300S(2)|p.N293S(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAAGCAAAGAATGAAGCCAAA	0.299000													30	6					0	0	0.796494	0	0
IGF2BP2-AS1	646600	broad.mit.edu	37	3	185431229	185431229	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:185431229T>C	ENST00000296270.1	+	1	150	c.14T>C	c.(13-15)cTa>cCa	p.L5P	IGF2BP2_ENST00000382199.2_Intron|IGF2BP2_ENST00000421047.2_Intron|IGF2BP2_ENST00000346192.3_Intron|IGF2BP2_ENST00000457616.2_Intron																		all_cancers(143;1.5e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GCAACACCACTAGATAACTGT	0.458000													22	85					0	0	0.693898	0	0
FCGBP	8857	broad.mit.edu	37	19	40367914	40367914	+	Splice_Site	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:40367914T>C	ENST00000221347.6	-	29	13053	c.13045_splice	c.e29-1	p.E4349_splice		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4349						extracellular region	protein binding	p.E4349G(2)		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)			GCAGGTGATCTCTGTGGGCAG	0.607000													29	56					0	0	0.740014	0	0
OR56A4	120793	broad.mit.edu	37	11	6024118	6024118	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:6024118G>T	ENST00000330728.4	-	1	306	c.261C>A	c.(259-261)agC>agA	p.S87R		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S87R(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGAGAAGGCTGAGGGGCA	0.592000													40	51					3.76604e-16	4.70582e-16	0.853193	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611402	84611402	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:84611402G>T	ENST00000286744.5	+	18	2396	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.Q724H	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	724	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.Q724H(2)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGAATTCAGACCCGAGATG	0.532000													32	212					6.97489e-18	8.91163e-18	0.804634	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686243	125686243	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:125686243A>G	ENST00000371126.1	-	1	591	c.349T>C	c.(349-351)Tgt>Cgt	p.C117R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	117								p.C117R(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCGTGTTACACTTGGTGCCG	0.642000													20	49					0	0	0.639603	0	0
MBD1	4152	broad.mit.edu	37	18	47799766	47799766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:47799766C>A	ENST00000591416.1	-	13	1953	c.1522G>T	c.(1522-1524)Gag>Tag	p.E508*	MBD1_ENST00000436910.1_Intron|MBD1_ENST00000398493.1_Nonsense_Mutation_p.E452*|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000269468.5_Nonsense_Mutation_p.E508*|MBD1_ENST00000585595.1_Nonsense_Mutation_p.E533*|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000585672.1_Nonsense_Mutation_p.E458*|MBD1_ENST00000457839.2_Nonsense_Mutation_p.E533*|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000424334.2_Nonsense_Mutation_p.E559*|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000398495.2_Nonsense_Mutation_p.E477*|MBD1_ENST00000382948.5_Nonsense_Mutation_p.E508*|MBD1_ENST00000353909.3_Nonsense_Mutation_p.E459*|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000590208.1_Nonsense_Mutation_p.E508*|MBD1_ENST00000347968.3_Nonsense_Mutation_p.E452*			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	508					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.E533*(2)|p.E508*(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GGTGTCCACTCGTCCTGGGTA	0.607000													28	126					3.73148e-12	4.45033e-12	0.717897	1	0
PACRG	135138	broad.mit.edu	37	6	163483243	163483243	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:163483243A>C	ENST00000337019.3	+	4	577	c.353A>C	c.(352-354)gAa>gCa	p.E118A	PACRG_ENST00000366888.2_Missense_Mutation_p.E118A|PACRG_ENST00000366889.2_Missense_Mutation_p.E118A	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	118								p.E118A(2)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GGGCTTTGTGAAATGACATTT	0.433000													38	108					0	0	0.827153	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254961	30254961	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:30254961A>T	ENST00000361644.2	+	5	1657	c.920A>T	c.(919-921)tAt>tTt	p.Y307F	MAGEB3_ENST00000378986.1_Missense_Mutation_p.Y307F	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	307	MAGE.							p.Y307V(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CAGTTCTGGTATGAAGAGGCT	0.512000													11	21					0	0	0.387290	0	0
DOCK11	139818	broad.mit.edu	37	X	117788700	117788700	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:117788700T>A	ENST00000276204.6	+	43	4905	c.4831T>A	c.(4831-4833)Tat>Aat	p.Y1611N	DOCK11_ENST00000276202.7_Missense_Mutation_p.Y1611N			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1611	DHR-2.				blood coagulation	cytosol	GTP binding	p.Y1611N(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGCCAAGTCCTATGCAAGCAC	0.433000													175	57					0	0	0.870114	0	0
MAP3K9	4293	broad.mit.edu	37	14	71197442	71197442	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:71197442C>A	ENST00000554752.2	-	12	2969	c.2970G>T	c.(2968-2970)gaG>gaT	p.E990D	MAP3K9_ENST00000554146.1_Missense_Mutation_p.E718D|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E967D|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E1004D|MAP3K9_ENST00000553414.1_Missense_Mutation_p.E723D			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	990					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E1004D(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGCAGAAACTCCAGAGTCT	0.627000													31	26					2.68265e-12	3.20506e-12	0.769981	1	0
PRDM9	56979	broad.mit.edu	37	5	23522757	23522757	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:23522757C>T	ENST00000296682.3	+	8	827	c.645C>T	c.(643-645)agC>agT	p.S215S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	215					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.S215S(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCATTGACAGCTGTGCTGCCC	0.502000										HNSCC(3;0.000094)			12	57					0	0	0.387290	0	0
SLC12A5	57468	broad.mit.edu	37	20	44671860	44671860	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:44671860C>A	ENST00000454036.1	+	9	1280	c.1204C>A	c.(1204-1206)Ctg>Atg	p.L402M	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.L379M	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	402					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.L379M(2)		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)	CTCGGTGGGCCTGGCCGATGG	0.577000													55	560					1.1362e-29	1.54133e-29	0.870114	1	0
SLC5A8	160728	broad.mit.edu	37	12	101576622	101576622	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:101576622G>A	ENST00000536262.2	-	9	1682	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	375					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.S375L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTCTGAGAGCGATCTGAAGTA	0.368000													33	112					0	0	0.819951	0	0
USP33	23032	broad.mit.edu	37	1	78205041	78205041	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:78205041C>A	ENST00000370793.1	-	6	699	c.353G>T	c.(352-354)aGc>aTc	p.S118I	USP33_ENST00000528150.1_5'UTR|USP33_ENST00000357428.1_Missense_Mutation_p.S118I|USP33_ENST00000370792.3_Missense_Mutation_p.S118I|USP33_ENST00000370794.3_Missense_Mutation_p.S87I	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	118					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.S118I(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TACTTCTTTGCTGCAAGCATA	0.378000													7	137					0.00307968	0.00316807	0.278610	1	0
EEF1A1	1915	broad.mit.edu	37	6	74228549	74228549	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:74228549T>C	ENST00000316292.9	-	4	1635	c.644A>G	c.(643-645)aAa>aGa	p.K215R	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.K215R|EEF1A1_ENST00000309268.6_Missense_Mutation_p.K215R	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	215						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.K215R(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACGGGTGACTTTCCATCCCTT	0.502000											OREG0003891|OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	14	24					0	0	0.557998	0	0
TTN	7273	broad.mit.edu	37	2	179639767	179639767	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:179639767G>T	ENST00000589042.1	-	29	6895	c.6671C>A	c.(6670-6672)tCt>tAt	p.S2224Y	TTN_ENST00000342175.6_Missense_Mutation_p.S2178Y|TTN_ENST00000591111.1_Missense_Mutation_p.S2224Y|TTN_ENST00000360870.5_Missense_Mutation_p.S2224Y|TTN_ENST00000359218.5_Missense_Mutation_p.S2178Y|TTN_ENST00000460472.2_Missense_Mutation_p.S2178Y|TTN_ENST00000342992.6_Missense_Mutation_p.S2224Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1961	Ig-like 11.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S2178Y(6)|p.S2224Y(6)		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)			CTTTCTGTCAGAGTGCATCCT	0.398000													46	113					2.81731e-22	3.71819e-22	0.870114	1	0
RALYL	138046	broad.mit.edu	37	8	85785599	85785599	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:85785599G>C	ENST00000521268.1	+	7	1757	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	RALYL_ENST00000518566.1_Missense_Mutation_p.E207Q|RALYL_ENST00000523850.1_Missense_Mutation_p.E145Q|RALYL_ENST00000522455.1_Missense_Mutation_p.E218Q|RALYL_ENST00000521695.1_Missense_Mutation_p.E218Q|RALYL_ENST00000517638.1_Missense_Mutation_p.E231Q|RALYL_ENST00000521376.1_Missense_Mutation_p.E129Q	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	218							identical protein binding|nucleotide binding|RNA binding	p.E218Q(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AGGGCGCCTGGAGAAGATTGA	0.433000													4	51					0	0	0.217242	0	0
KEL	3792	broad.mit.edu	37	7	142640627	142640627	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:142640627A>G	ENST00000355265.2	-	15	2123	c.1649T>C	c.(1648-1650)gTa>gCa	p.V550A		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	550					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.V550A(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGAAAGACTACCACATGGTC	0.547000													62	316					0	0	0.870114	0	0
OSBPL8	114882	broad.mit.edu	37	12	76786490	76786490	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:76786490G>A	ENST00000261183.3	-	10	1279	c.800C>T	c.(799-801)tCt>tTt	p.S267F	OSBPL8_ENST00000393249.2_Missense_Mutation_p.S225F|OSBPL8_ENST00000393250.4_Missense_Mutation_p.S225F	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	267					lipid transport		lipid binding	p.S267F(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AAGAAGACTAGAACATTTCAA	0.383000													15	93					0	0	0.500413	0	0
HIVEP2	3097	broad.mit.edu	37	6	143080972	143080972	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:143080972G>C	ENST00000367603.2	-	9	7195	c.6453C>G	c.(6451-6453)taC>taG	p.Y2151*	HIVEP2_ENST00000367604.1_Nonsense_Mutation_p.Y2151*|HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.Y2151*	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y2151*(2)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTGGGTTATGGTATAAAGCCC	0.438000													18	128					0	0	0.520397	0	0
RPS15	6209	broad.mit.edu	37	19	1440170	1440170	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:1440170G>A	ENST00000591804.2	+	4	469	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	RPS15_ENST00000233609.4_Missense_Mutation_p.R54Q|RPS15_ENST00000593052.1_Missense_Mutation_p.R88Q|RPS15_ENST00000586096.2_Missense_Mutation_p.R81Q|RPS15_ENST00000591032.1_Missense_Mutation_p.R48Q|RPS15_ENST00000585665.1_Missense_Mutation_p.R48Q|RPS15_ENST00000589656.2_Missense_Mutation_p.R81Q|RPS15_ENST00000586686.2_Missense_Mutation_p.R81Q			P62841	RS15_HUMAN	ribosomal protein S15	81					endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|protein binding|RNA binding	p.R81Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		ACGCACCTGCGGGACATGATC	0.637000													4	10					0	0	0.184627	0	0
ACBD4	79777	broad.mit.edu	37	17	43215142	43215142	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:43215142G>A	ENST00000431281.1	+	9	1025	c.556G>A	c.(556-558)Ggg>Agg	p.G186R	ACBD4_ENST00000376955.4_Missense_Mutation_p.R173K|ACBD4_ENST00000592162.1_Missense_Mutation_p.R173K|ACBD4_ENST00000591859.1_Missense_Mutation_p.G186R|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000321854.8_Missense_Mutation_p.R173K|ACBD4_ENST00000398322.3_Missense_Mutation_p.R173K|ACBD4_ENST00000586346.1_Missense_Mutation_p.G186R	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	169							fatty-acyl-CoA binding	p.R173K(2)|p.G186R(2)		kidney(1)|lung(3)|ovary(1)	5						CATTCACCCAGGGACCTGGAC	0.597000													12	36					0	0	0.479597	0	0
ZNF80	7634	broad.mit.edu	37	3	113955524	113955524	+	Missense_Mutation	SNP	T	T	C	rs143330045		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:113955524T>C	ENST00000482457.2	-	1	901	c.398A>G	c.(397-399)tAt>tGt	p.Y133C		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	133						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y133C(2)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GCTGCACTCATAGGGCTTCTC	0.537000													4	57					0	0	0.150653	0	0
NMBR	4829	broad.mit.edu	37	6	142397123	142397123	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:142397123A>T	ENST00000258042.1	-	3	975	c.835T>A	c.(835-837)Tgg>Agg	p.W279R		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	279					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	p.W279R(2)		breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTTGGAAACCAACAGAAGATG	0.413000													20	71					0	0	0.624587	0	0
TTC7A	57217	broad.mit.edu	37	2	47256494	47256494	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:47256494G>T	ENST00000319190.5	+	15	2141	c.1773G>T	c.(1771-1773)atG>atT	p.M591I	TTC7A_ENST00000263737.6_Missense_Mutation_p.M237I|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.M557I|TTC7A_ENST00000394850.2_Missense_Mutation_p.M591I	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	591							binding	p.M591I(1)|p.M591_A592>IS(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TTGTCAACATGGCCATCACCG	0.617000													11	39					0.000151284	0.000159976	0.435327	1	0
TTN	7273	broad.mit.edu	37	2	179497651	179497651	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:179497651C>A	ENST00000589042.1	-	234	43431	c.43207G>T	c.(43207-43209)Gtg>Ttg	p.V14403L	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V5530L|TTN_ENST00000591111.1_Missense_Mutation_p.V12762L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V5463L|TTN_ENST00000460472.2_Missense_Mutation_p.V5338L|TTN_ENST00000342992.6_Missense_Mutation_p.V11835L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12762							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V11835L(4)|p.V5463L(2)|p.V5530L(2)|p.V5338L(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACCTTTCACTTTCAGATTG	0.438000													21	167					0.000295444	0.000310969	0.624587	1	0
SURF4	6836	broad.mit.edu	37	9	136230446	136230446	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:136230446C>A	ENST00000371989.3	-	6	862	c.733G>T	c.(733-735)Gtg>Ttg	p.V245L	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_3'UTR	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	245						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	p.V245L(2)		kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CCCCCAATCACCGACATGGTC	0.532000													3	27					0.115264	0.115945	0.115264	1	0
SLC26A5	375611	broad.mit.edu	37	7	103017307	103017307	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:103017307A>T	ENST00000306312.3	-	19	2250	c.1989T>A	c.(1987-1989)atT>atA	p.I663I	SLC26A5_ENST00000393727.1_Silent_p.I665I|SLC26A5_ENST00000432958.2_Silent_p.I631I|SLC26A5_ENST00000393723.1_Silent_p.I633I|SLC26A5_ENST00000393729.1_Silent_p.I626I|SLC26A5_ENST00000393730.1_Silent_p.I631I|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Silent_p.I96I|SLC26A5_ENST00000339444.6_Silent_p.I663I	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	663	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.I663I(4)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATTCTTTTACAATCTGTAATA	0.323000													21	90					0	0	0.624587	0	0
COX10-AS1	100874058	broad.mit.edu	37	17	13928500	13928500	+	RNA	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:13928500C>G	ENST00000602743.1	-	0	224																											TGCCCCTAGTCCTGGGCACGG	0.607000													4	10					0	0	0.150653	0	0
LCE3A	353142	broad.mit.edu	37	1	152595433	152595433	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:152595433C>G	ENST00000335674.1	-	1	146	c.147G>C	c.(145-147)ctG>ctC	p.L49L		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	49					keratinization			p.L49L(2)		endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGTGACTCAGGCAGCAGC	0.657000													16	147					0	0	0.500413	0	0
TROAP	10024	broad.mit.edu	37	12	49719372	49719372	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:49719372G>T	ENST00000551245.1	+	4	537	c.426G>T	c.(424-426)ggG>ggT	p.G142G	TROAP_ENST00000257909.3_Silent_p.G142G			Q12815	TROAP_HUMAN	trophinin associated protein	142					cell adhesion	cytoplasm		p.G142G(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GTCACCTGGGGCGCCAGCCTA	0.582000													10	54					1.5842e-08	1.80107e-08	0.435327	1	0
OTUD7A	161725	broad.mit.edu	37	15	31862303	31862303	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:31862303A>G	ENST00000382902.1	-	2	341	c.249T>C	c.(247-249)ggT>ggC	p.G83G	OTUD7A_ENST00000307050.4_Silent_p.G83G			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	83						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.G83G(2)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCTGCTTGGGACCCCGCCCTT	0.622000													16	103					0	0	0.520397	0	0
VPS13C	54832	broad.mit.edu	37	15	62232916	62232916	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:62232916C>T	ENST00000261517.5	-	47	5604	c.5531G>A	c.(5530-5532)cGa>cAa	p.R1844Q	VPS13C_ENST00000395896.4_Missense_Mutation_p.R1844Q|VPS13C_ENST00000395898.3_Missense_Mutation_p.R1801Q|VPS13C_ENST00000249837.3_Missense_Mutation_p.R1801Q	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1844					protein localization			p.R1844Q(2)		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						TGCTAAGTTTCGCTGTATGGA	0.338000													18	77					0	0	0.639603	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181273	57181273	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:57181273G>T	ENST00000504228.1	+	6	1710	c.1605G>T	c.(1603-1605)cgG>cgT	p.R535R	KIAA1211_ENST00000541073.1_Silent_p.R528R|KIAA1211_ENST00000264229.6_Silent_p.R535R			Q6ZU35	K1211_HUMAN	KIAA1211	535								p.R535R(2)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCATGCCCCGGCCCTACACGT	0.642000													15	24					3.52763e-06	3.84371e-06	0.520397	1	0
SLC45A3	85414	broad.mit.edu	37	1	205631992	205631992	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:205631992C>G	ENST00000367145.3	-	3	1222	c.927G>C	c.(925-927)ccG>ccC	p.P309P		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	309					transmembrane transport	integral to membrane		p.P309P(2)	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)			CCTCGGTGCCCGGCTCAGCTC	0.632000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								14	57					0	0	0.457914	0	0
DDX60L	91351	broad.mit.edu	37	4	169348279	169348279	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:169348279A>T	ENST00000511577.1	-	14	2119	c.1872T>A	c.(1870-1872)gtT>gtA	p.V624V	DDX60L_ENST00000505890.1_Silent_p.V624V|DDX60L_ENST00000260184.7_Silent_p.V624V			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	624							ATP binding|ATP-dependent helicase activity|RNA binding	p.V624V(2)		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)		CTAACATTTCAACTCCAAATT	0.343000													4	12					0	0	0.150653	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21349976	21349976	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:21349976C>A	ENST00000256958.2	+	8	920	c.824C>A	c.(823-825)cCa>cAa	p.P275Q		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	275					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.P275Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TCTTCCATACCATTCTTTTTC	0.393000													23	334					3.08376e-08	3.48844e-08	0.654019	1	0
HDGFL1	154150	broad.mit.edu	37	6	22569979	22569979	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:22569979T>A	ENST00000510882.2	+	1	185	c.175T>A	c.(175-177)Tac>Aac	p.Y59N	HDGFL1_ENST00000230012.3_Missense_Mutation_p.Y59N			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	59	PWWP.							p.Y59N(2)		kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					CCTGTTCCCGTACAAGGAGTG	0.617000													10	18					0	0	0.387290	0	0
DSG3	1830	broad.mit.edu	37	18	29055815	29055815	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:29055815T>A	ENST00000257189.4	+	16	2675	c.2592T>A	c.(2590-2592)gaT>gaA	p.D864E		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	864					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.D864E(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTGGTGTTGATGGTGAAGGCA	0.448000													10	83					0	0	0.411799	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434278	42434278	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:42434278G>A	ENST00000397272.3	-	20	2551	c.2460C>T	c.(2458-2460)ctC>ctT	p.L820L	PLA2G4F_ENST00000382396.4_Silent_p.L818L	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	818	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	p.L818L(2)		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)		TGTATCGACTGAGGGCCACCA	0.587000													10	61					0	0	0.387290	0	0
TMEM39A	55254	broad.mit.edu	37	3	119155826	119155826	+	Splice_Site	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:119155826C>G	ENST00000319172.5	-	7	1345		c.e7-1			NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A							integral to membrane		p.?(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ACTGGGTACTCTGGAAGAGAT	0.473000													92	352					0	0	0.870114	0	0
LRP1B	53353	broad.mit.edu	37	2	141032165	141032165	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:141032165C>A	ENST00000389484.3	-	85	13941	c.12970G>T	c.(12970-12972)Gtg>Ttg	p.V4324L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4324	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V4324L(2)		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)		TGGTGGCACACGTCTAGGAAA	0.353000										TSP Lung(27;0.18)			36	48					6.02501e-08	6.77068e-08	0.819951	1	0
FAF2	23197	broad.mit.edu	37	5	175919294	175919294	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:175919294G>A	ENST00000261942.6	+	5	497	c.444G>A	c.(442-444)ggG>ggA	p.G148G		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	148					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	p.G148G(2)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGAAATATGGGAGGGCACACC	0.488000													8	50					0	0	0.307466	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686656	108686656	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:108686656C>T	ENST00000397688.2	-	3	447	c.78G>A	c.(76-78)ttG>ttA	p.L26L	CMKLR1_ENST00000552995.1_Silent_p.L26L|CMKLR1_ENST00000412676.1_Silent_p.L28L|CMKLR1_ENST00000550402.1_Silent_p.L28L|CMKLR1_ENST00000312143.7_Silent_p.L28L	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	28					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.L26L(2)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ATAAGTCCTCCAAAACCACAA	0.493000													18	104					0	0	0.575678	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39564867	39564867	+	RNA	SNP	A	A	G	rs17658063	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:39564867A>G	ENST00000432258.1	+	0	281				AC003958.2_ENST00000430006.1_RNA																							TCAATGCATCACACCAAGGGT	0.547000													3	16					0	0	0.150653	0	0
PTPN21	11099	broad.mit.edu	37	14	89016693	89016693	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:89016693C>A	ENST00000556564.1	-	2	353	c.69G>T	c.(67-69)ctG>ctT	p.L23L	PTPN21_ENST00000328736.3_Silent_p.L23L|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	23	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	p.L23L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCCGGGCAACCAGGCAACTCT	0.557000													8	52					1.12685e-05	1.21614e-05	0.307466	1	0
NTRK3	4916	broad.mit.edu	37	15	88678465	88678465	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:88678465C>A	ENST00000394480.1	-	10	1392	c.1071G>T	c.(1069-1071)gaG>gaT	p.E357D	NTRK3_ENST00000357724.2_Missense_Mutation_p.E357D|NTRK3_ENST00000360948.2_Missense_Mutation_p.E357D|NTRK3_ENST00000355254.2_Missense_Mutation_p.E357D|NTRK3_ENST00000317501.3_Missense_Mutation_p.E357D|NTRK3_ENST00000558676.1_Missense_Mutation_p.E357D|NTRK3_ENST00000557856.1_Missense_Mutation_p.E357D|NTRK3_ENST00000542733.2_Missense_Mutation_p.E259D|NTRK3_ENST00000540489.2_Missense_Mutation_p.E357D	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	357	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E357D(6)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCGGAAATCTCTCCCTCTT	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			23	98					1.1804e-14	1.44318e-14	0.667858	1	0
LDLRAD4	753	broad.mit.edu	37	18	13645351	13645351	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:13645351A>T	ENST00000361205.4	+	7	1284	c.616A>T	c.(616-618)Agg>Tgg	p.R206W	LDLRAD4_ENST00000592991.1_Missense_Mutation_p.R108W|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.R206W|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R169W|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R151W|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R188W|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R129W	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4									p.R169W(2)|p.R206W(2)									AGAGTCCGTGAGGGCCCCACC	0.587000													11	44					0	0	0.479597	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996562	19996562	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:19996562C>A	ENST00000391403.2	-	1	1316	c.1213G>T	c.(1213-1215)Gcc>Tcc	p.A405S		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	405						integral to membrane		p.A405S(2)		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)					AGATCTTTGGCTCGCTTTCGG	0.383000													49	347					1.19403e-26	1.60382e-26	0.870114	1	0
AMIGO2	347902	broad.mit.edu	37	12	47471976	47471976	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:47471976A>G	ENST00000266581.4	-	2	1276	c.810T>C	c.(808-810)cgT>cgC	p.R270R	AMIGO2_ENST00000550413.1_Silent_p.R270R|AMIGO2_ENST00000429635.1_Silent_p.R270R|AMIGO2_ENST00000321382.3_Silent_p.R270R	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	270	LRRCT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		p.R270R(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GAAGTACCTGACGCGAGTGCC	0.493000													5	70					0	0	0.184627	0	0
LIN9	286826	broad.mit.edu	37	1	226426782	226426782	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:226426782G>A	ENST00000328205.5	-	12	1728	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S	LIN9_ENST00000481685.1_Missense_Mutation_p.P360S|LIN9_ENST00000366801.1_Missense_Mutation_p.P344S	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	379					cell cycle|DNA replication	nucleoplasm		p.P395S(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATGCTGATGGGCATGGAATAT	0.343000													12	89					0	0	0.435327	0	0
POU6F2	11281	broad.mit.edu	37	7	39243834	39243834	+	Splice_Site	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:39243834G>C	ENST00000518318.2	+	3	233	c.190_splice	c.e3-1	p.G64_splice	POU6F2_ENST00000403058.1_Splice_Site_p.G64_splice|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Splice_Site_p.G56_splice			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	64					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G64A(2)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TGAATTCCAGGGGCTAGAGGA	0.473000													16	58					0	0	0.520397	0	0
CCDC178	374864	broad.mit.edu	37	18	30554589	30554589	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:30554589C>A	ENST00000383096.3	-	22	2627	c.2445G>T	c.(2443-2445)gtG>gtT	p.V815V	CCDC178_ENST00000403303.1_Silent_p.V815V|CCDC178_ENST00000402325.1_Silent_p.V765V|CCDC178_ENST00000581852.1_Silent_p.V20V|CCDC178_ENST00000579947.1_Silent_p.V815V|CCDC178_ENST00000406524.2_Silent_p.V839V|CCDC178_ENST00000579916.1_Silent_p.V135V|CCDC178_ENST00000583930.1_Silent_p.V839V|CCDC178_ENST00000300227.8_Silent_p.V777V					coiled-coil domain containing 178									p.V777V(2)|p.V815V(2)									TGAAGAGGACCACCAGTTTGA	0.512000													16	38					7.07596e-05	7.54105e-05	0.539581	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73149304	73149304	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:73149304G>A	ENST00000286657.4	-	22	3203	c.3167C>T	c.(3166-3168)aCc>aTc	p.T1056I		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1056					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.T1056I(2)		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)			TGGTGGCAGGGTGCTACTGCG	0.463000													99	213					0	0	0.870114	0	0
MS4A7	58475	broad.mit.edu	37	11	60150636	60150636	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:60150636A>G	ENST00000358246.1	+	2	215	c.22A>G	c.(22-24)Atg>Gtg	p.M8V	MS4A7_ENST00000300184.3_Missense_Mutation_p.M8V|MS4A7_ENST00000530234.2_Missense_Mutation_p.M8V|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.M8V	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	8						integral to membrane	receptor activity	p.M8V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ATCCCAAACCATGGGGGTTTC	0.453000													69	244					0	0	0.870114	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21350017	21350017	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:21350017G>A	ENST00000256958.2	+	8	961	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	289					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.E289K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ACCACAAAAAGAAAGAAAAGC	0.353000													16	292					0	0	0.539581	0	0
KIF21A	55605	broad.mit.edu	37	12	39716581	39716581	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:39716581G>A	ENST00000395670.3	-	26	3979	c.3560C>T	c.(3559-3561)aCa>aTa	p.T1187I	KIF21A_ENST00000361418.5_Missense_Mutation_p.T1187I|KIF21A_ENST00000541463.2_Missense_Mutation_p.T1151I|KIF21A_ENST00000544797.2_Missense_Mutation_p.T1167I|KIF21A_ENST00000361961.3_Missense_Mutation_p.T1174I			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1187					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.T1174I(2)		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)				TGCAACAGGTGTGAGAGGGCC	0.498000													55	509					0	0	0.870114	0	0
ST14	6768	broad.mit.edu	37	11	130058061	130058061	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:130058061A>G	ENST00000278742.5	+	2	552	c.134A>G	c.(133-135)aAg>aGg	p.K45R		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	45					proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.K45R(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AACAACGTCAAGAAGGTGGAA	0.617000													15	25					0	0	0.500413	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683293	84683293	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:84683293G>T	ENST00000286744.5	+	24	4197		c.e24-1		ADAMTSL3_ENST00000567476.1_Splice_Site	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3							proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.?(2)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGTTCCAAAGGTGTCCCTCA	0.413000													28	257					4.74835e-14	5.75379e-14	0.750413	1	0
PDILT	204474	broad.mit.edu	37	16	20410590	20410590	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:20410590C>T	ENST00000302451.4	-	2	281	c.33G>A	c.(31-33)gtG>gtA	p.V11V		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	11					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.V11V(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CACAAGCGGCCACCAGCAGCA	0.587000													47	296					0	0	0.870114	0	0
RGS1	5996	broad.mit.edu	37	1	192547444	192547444	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:192547444G>A	ENST00000367459.3	+	4	439	c.373G>A	c.(373-375)Gag>Aag	p.E125K	RGS1_ENST00000469578.2_Missense_Mutation_p.E125K	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	125	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.E125R(1)|p.E125K(1)|p.E112R(1)|p.E112K(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TAAGAAAACAGAGTCTGATCT	0.363000													59	157					0	0	0.870114	0	0
FAM135B	51059	broad.mit.edu	37	8	139144901	139144901	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:139144901C>A	ENST00000395297.1	-	20	4326	c.4156G>T	c.(4156-4158)Gtg>Ttg	p.V1386L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1386								p.V1386L(4)		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)			GAATCCAGCACAGCGATGTGA	0.522000										HNSCC(54;0.14)			189	166					9.71722e-108	1.41701e-107	0.870114	1	0
GABRB3	2562	broad.mit.edu	37	15	26806314	26806314	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:26806314G>T	ENST00000541819.2	-	9	1115	c.1013C>A	c.(1012-1014)aCt>aAt	p.T338N	GABRB3_ENST00000299267.4_Missense_Mutation_p.T282N|GABRB3_ENST00000311550.5_Missense_Mutation_p.T282N|GABRB3_ENST00000545868.1_Missense_Mutation_p.T197N|GABRB3_ENST00000400188.3_Missense_Mutation_p.T211N			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	282					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	p.T282N(4)|p.T338N(2)		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)	TGTCAGCACAGTTGTGATCCC	0.438000													24	225					5.77227e-19	7.45904e-19	0.729181	1	0
FKBP3	2287	broad.mit.edu	37	14	45603642	45603642	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:45603642T>A	ENST00000216330.3	-	2	428	c.18A>T	c.(16-18)ccA>ccT	p.P6P	FKBP3_ENST00000396062.3_Silent_p.P6P			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	6					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity	p.P6P(2)		NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						ACGCCCGCTGTGGAACGGCCG	0.667000													29	37					0	0	0.834066	0	0
FAP	2191	broad.mit.edu	37	2	163055370	163055370	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:163055370A>T	ENST00000188790.4	-	16	1506	c.1299T>A	c.(1297-1299)ccT>ccA	p.P433P	FAP_ENST00000443424.1_Silent_p.P408P	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	433					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.P433P(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TCTTGCTTGGAGGATAGCTTC	0.373000													12	109					0	0	0.387290	0	0
EMCN	51705	broad.mit.edu	37	4	101344211	101344211	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:101344211C>T	ENST00000296420.4	-	7	713	c.535G>A	c.(535-537)Gca>Aca	p.A179T	EMCN_ENST00000305864.3_Intron|EMCN_ENST00000511970.1_Missense_Mutation_p.A166T	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	179						extracellular region|integral to membrane|plasma membrane		p.A179T(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		GAAGTGCTTGCATTTTTTCCA	0.418000													39	124					0	0	0.870114	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2307157	2307157	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:2307157C>T	ENST00000290974.2	-	8	1249	c.910G>A	c.(910-912)Gct>Act	p.A304T	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A274T|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A234T	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	304					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.A304T(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCCAGGGCAGCGGGTCCCTGC	0.657000													5	9					0	0	0.217242	0	0
XCL1	6375	broad.mit.edu	37	1	168550295	168550295	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:168550295T>C	ENST00000367818.3	+	3	347	c.182T>C	c.(181-183)aTt>aCt	p.I61T		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	61					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	p.I61T(2)		kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					TACAGTTTTATTACCAAACGT	0.468000													48	76					0	0	0.870114	0	0
HECW2	57520	broad.mit.edu	37	2	197182014	197182014	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:197182014G>T	ENST00000260983.2	-	10	2600	c.2418C>A	c.(2416-2418)gaC>gaA	p.D806E	HECW2_ENST00000409111.1_Missense_Mutation_p.D450E	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	806	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.D806E(2)		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						GGAGAGCCTCGTCCACCCTCT	0.522000													12	33					0.000151284	0.000159976	0.435327	1	0
SLC7A14	57709	broad.mit.edu	37	3	170216672	170216672	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:170216672C>A	ENST00000231706.4	-	4	858	c.541_splice	c.e4-1	p.G181_splice	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	181						integral to membrane	amino acid transmembrane transporter activity	p.G181G(3)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CTTCACCTTTCCCTAGAGAGG	0.488000													27	78					4.22769e-11	4.98971e-11	0.706142	1	0
OLFM3	118427	broad.mit.edu	37	1	102271669	102271669	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:102271669C>A	ENST00000370103.4	-	5	875	c.662G>T	c.(661-663)tGg>tTg	p.W221L	OLFM3_ENST00000338858.5_Missense_Mutation_p.W241L|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	241	Olfactomedin-like.					extracellular region		p.W221L(2)|p.W241L(2)		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)		GTCTGTCATCCAAGCACCAAA	0.408000													19	120					6.44725e-10	7.46697e-10	0.624587	1	0
OTX2	5015	broad.mit.edu	37	14	57268677	57268677	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:57268677C>T	ENST00000339475.5	-	5	946	c.670G>A	c.(670-672)Ggg>Agg	p.G224R	OTX2_ENST00000408990.3_Missense_Mutation_p.G216R|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.G216R	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	216					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E 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	p.G224R(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					AGTGTGGCCCCTGGTCCGGGA	0.527000													4	30					0	0	0.150653	0	0
NPAT	4863	broad.mit.edu	37	11	108040747	108040747	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:108040747G>C	ENST00000278612.8	-	14	2914	c.2809C>G	c.(2809-2811)Cca>Gca	p.P937A		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	937					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.P937A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GGCTGGACTGGAGAGGCAATT	0.383000													97	111					0	0	0.870114	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118203902	118203902	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:118203902A>G	ENST00000369230.3	+	4	479	c.333A>G	c.(331-333)ctA>ctG	p.L111L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	111					lipid catabolic process	extracellular region	triglyceride lipase activity	p.L111L(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AGGTGTTGCTACAGCTGGAAG	0.358000													9	30					0	0	0.307466	0	0
NCDN	23154	broad.mit.edu	37	1	36029491	36029491	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:36029491G>A	ENST00000373243.2	+	6	2117	c.1734G>A	c.(1732-1734)cgG>cgA	p.R578R	NCDN_ENST00000373253.3_Silent_p.R561R|NCDN_ENST00000356090.4_Silent_p.R578R	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	578					neuron projection development	cytosol|dendrite|neuronal cell body		p.R561R(2)|p.R578R(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCATGGCCCGGCTCCTTAGCA	0.572000													14	20					0	0	0.435327	0	0
HVCN1	84329	broad.mit.edu	37	12	111099066	111099066	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:111099066G>A	ENST00000356742.5	-	3	962	c.209C>T	c.(208-210)gCa>gTa	p.A70V	HVCN1_ENST00000439744.2_Missense_Mutation_p.A50V|HVCN1_ENST00000548312.1_Missense_Mutation_p.A70V|HVCN1_ENST00000242607.8_Missense_Mutation_p.A70V			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	70					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	p.A70V(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GTCAGGGGCTGCAGCTCTGCC	0.607000													12	68					0	0	0.539581	0	0
ACTN2	88	broad.mit.edu	37	1	236889278	236889278	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:236889278C>A	ENST00000366578.4	+	5	660	c.494C>A	c.(493-495)aCt>aAt	p.T165N	ACTN2_ENST00000542672.1_Missense_Mutation_p.T165N|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	165	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.T165N(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CAGAGGAAAACTGCTCCTTAT	0.478000													10	233					9.31168e-06	1.00655e-05	0.435327	1	0
TAF1L	138474	broad.mit.edu	37	9	32630480	32630480	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:32630480G>T	ENST00000242310.4	-	1	5187	c.5098C>A	c.(5098-5100)Cca>Aca	p.P1700T		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1700					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	p.P1700T(1)		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)		TGTTTTTCTGGAGTGGCAGTG	0.463000													122	300					1.81142e-54	2.56461e-54	0.870114	1	0
FAM47C	442444	broad.mit.edu	37	X	37028810	37028810	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:37028810C>A	ENST00000358047.3	+	1	2379	c.2327C>A	c.(2326-2328)cCa>cAa	p.P776Q		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	776								p.P776Q(4)		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						CATCTCCACCCAGAGCTTCCC	0.632000													7	5					0.00448238	0.00459714	0.307466	1	0
RYR2	6262	broad.mit.edu	37	1	237948113	237948113	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:237948113G>T	ENST00000366574.2	+	90	13418	c.13101G>T	c.(13099-13101)aaG>aaT	p.K4367N	RYR2_ENST00000360064.6_Missense_Mutation_p.K4373N|RYR2_ENST00000542537.1_Missense_Mutation_p.K4351N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4367					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	p.K4365_E4366>N*(2)		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)			CCGACTTAAAGGAGCTGACAG	0.532000													51	91					2.2129e-31	3.02607e-31	0.870114	1	0
OR8K5	219453	broad.mit.edu	37	11	55927514	55927514	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:55927514A>T	ENST00000313447.1	-	1	279	c.280T>A	c.(280-282)Tat>Aat	p.Y94N		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y94N(2)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CATGCATAATAGGAAATAGTA	0.403000													78	164					0	0	0.870114	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142567171	142567171	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:142567171A>T	ENST00000295992.3	-	3	642	c.336T>A	c.(334-336)ccT>ccA	p.P112P	PCOLCE2_ENST00000485766.1_Silent_p.P112P	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	112	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.P112P(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CAAGGGCTCCAGGCCGGAAAG	0.547000													49	137					0	0	0.870114	0	0
SPG20	23111	broad.mit.edu	37	13	36909952	36909952	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:36909952G>C	ENST00000451493.1	-	2	233	c.16C>G	c.(16-18)Caa>Gaa	p.Q6E	SPG20_ENST00000494062.2_Missense_Mutation_p.Q6E|SPG20_ENST00000355182.4_Missense_Mutation_p.Q6E|SPG20_ENST00000438666.2_Missense_Mutation_p.Q6E|SPG20_ENST00000495510.1_5'UTR	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	6					cell death	cytoplasm	ubiquitin protein ligase binding	p.Q6E(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TCTCCATTTTGTGGCTCTTGC	0.323000													23	60					0	0	0.740014	0	0
OR10A3	26496	broad.mit.edu	37	11	7961052	7961052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:7961052G>A	ENST00000360759.3	-	1	89	c.16C>T	c.(16-18)Caa>Taa	p.Q6*		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q6*(2)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACACAGCTTTGATTTTGTCTT	0.403000													36	121					0	0	0.834066	0	0
PTPRR	5801	broad.mit.edu	37	12	71139815	71139815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:71139815C>A	ENST00000283228.2	-	6	1242	c.790G>T	c.(790-792)Gag>Tag	p.E264*	PTPRR_ENST00000342084.4_Nonsense_Mutation_p.E152*|PTPRR_ENST00000440835.2_Nonsense_Mutation_p.E19*|PTPRR_ENST00000378778.1_Nonsense_Mutation_p.E58*|PTPRR_ENST00000549308.1_Nonsense_Mutation_p.E19*	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	264					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.E264*(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TGGTTTTTCTCTTTGTCTTGT	0.423000													35	106					3.09479e-21	4.06079e-21	0.827153	1	0
OR4K2	390431	broad.mit.edu	37	14	20345048	20345048	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:20345048T>A	ENST00000298642.2	+	1	658	c.622T>A	c.(622-624)Ttg>Atg	p.L208M		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L208M(1)		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)		CATAATTGCGTTGTCCTGTTT	0.398000													64	440					0	0	0.870114	0	0
CNGA2	1260	broad.mit.edu	37	X	150912021	150912021	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:150912021A>G	ENST00000329903.4	+	6	1079	c.1046A>G	c.(1045-1047)gAg>gGg	p.E349G		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	349					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.E349G(2)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGATGAGGAGTACCTATTT	0.502000													44	271					0	0	0.859065	0	0
MPP4	58538	broad.mit.edu	37	2	202549823	202549823	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:202549823C>A	ENST00000409474.3	-	7	745	c.538G>T	c.(538-540)Gcc>Tcc	p.A180S	MPP4_ENST00000359962.5_Missense_Mutation_p.A180S|MPP4_ENST00000447335.2_Missense_Mutation_p.A180S|MPP4_ENST00000396886.3_Missense_Mutation_p.A136S|MPP4_ENST00000315506.7_Missense_Mutation_p.A180S|MPP4_ENST00000428900.2_Missense_Mutation_p.A180S|MPP4_ENST00000409143.1_Missense_Mutation_p.A153S	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	180	PDZ.					cytoplasm	protein binding	p.A180S(2)		kidney(1)|lung(11)	12						ATGATCCTGGCCACCAAGATG	0.527000													22	56					1.26454e-06	1.3912e-06	0.693898	1	0
ADCY2	108	broad.mit.edu	37	5	7690926	7690926	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:7690926G>T	ENST00000338316.4	+	5	932	c.843G>T	c.(841-843)ctG>ctT	p.L281L	ADCY2_ENST00000537121.1_Silent_p.L101L|ADCY2_ENST00000513693.1_3'UTR	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	281					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	p.L281L(2)		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						TCCACAACCTGTATGTGAAGC	0.557000													78	302					1.78623e-52	2.5237e-52	0.870114	1	0
FSHB	2488	broad.mit.edu	37	11	30255202	30255202	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:30255202C>A	ENST00000417547.1	+	3	284	c.245C>A	c.(244-246)cCc>cAc	p.P82H	FSHB_ENST00000254122.3_Missense_Mutation_p.P82H|FSHB_ENST00000533718.1_Missense_Mutation_p.P82H	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	82					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity	p.P82H(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GTGAGAGTGCCCGGCTGTGCT	0.502000													24	98					2.44723e-14	2.97601e-14	0.681144	1	0
C1orf106	55765	broad.mit.edu	37	1	200880721	200880721	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:200880721C>G	ENST00000367342.4	+	9	1555	c.1355C>G	c.(1354-1356)tCc>tGc	p.S452C	C1orf106_ENST00000413687.2_Missense_Mutation_p.S367C	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	452								p.S452C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCCTGCCACTCCTGCTCAGAA	0.667000													6	79					0	0	0.335167	0	0
CHPF2	54480	broad.mit.edu	37	7	150932245	150932245	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:150932245C>A	ENST00000035307.2	+	2	1888	c.375C>A	c.(373-375)gcC>gcA	p.A125A	CHPF2_ENST00000495645.1_Silent_p.A117A	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	125						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.A125A(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTACGGTGGCCCATCACTTCC	0.657000													21	43					1.22574e-08	1.3982e-08	0.624587	1	0
LOC642423	642423	broad.mit.edu	37	15	84868453	84868453	+	RNA	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:84868453G>A	ENST00000559668.1	-	0	3862					NR_049748.1																						CATGCACCACGCGCTGAAGGA	0.597000													2	2					0	0	0.115264	0	0
ATRNL1	26033	broad.mit.edu	37	10	117040877	117040877	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:117040877T>A	ENST00000355044.3	+	14	2239	c.2113T>A	c.(2113-2115)Tac>Aac	p.Y705N		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	705	PSI 2.					integral to membrane	sugar binding	p.Y705N(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGTCAAGAACTACACCAAATG	0.353000													11	46					0	0	0.411799	0	0
MAGED1	9500	broad.mit.edu	37	X	51637834	51637834	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:51637834G>T	ENST00000375695.2	+	3	310	c.157G>T	c.(157-159)Gat>Tat	p.D53Y	MAGED1_ENST00000375722.1_Intron|MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000326587.7_Intron	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	0					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	p.D53Y(2)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TCAACTCCGCGATCCGCCTGC	0.632000										Multiple Myeloma(10;0.10)			23	29					1.80694e-10	2.10707e-10	0.740014	1	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138713464	138713464	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:138713464C>G	ENST00000275766.1	-	3	755	c.744G>C	c.(742-744)aaG>aaC	p.K248N		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	248								p.K248N(2)		NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TTTCAAGCATCTTGTGCAGCT	0.403000													32	156					0	0	0.779181	0	0
ITGA2	3673	broad.mit.edu	37	5	52351515	52351515	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:52351515A>G	ENST00000296585.5	+	8	1070	c.927A>G	c.(925-927)atA>atG	p.I309M		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	309	VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	p.I309M(4)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GGTTTGGCATAGCAGTAAGTG	0.398000													26	139					0	0	0.750413	0	0
DGKE	8526	broad.mit.edu	37	17	54912287	54912287	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:54912287G>A	ENST00000284061.3	+	2	311	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000576869.1_3'UTR|DGKE_ENST00000572810.1_Missense_Mutation_p.R44Q	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	44					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	p.R44Q(1)		breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AGCCTCCAGCGGTCGCGCCGG	0.662000													4	59					0	0	0.184627	0	0
ADCY2	108	broad.mit.edu	37	5	7727285	7727285	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:7727285C>T	ENST00000338316.4	+	14	1871	c.1782C>T	c.(1780-1782)gcC>gcT	p.A594A	ADCY2_ENST00000537121.1_Silent_p.A414A|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	594					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	p.A594A(1)		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						AGTACCGGGCCACGGCACTGC	0.507000													40	279					0	0	0.847076	0	0
GJA10	84694	broad.mit.edu	37	6	90604983	90604983	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:90604983G>T	ENST00000369352.1	+	1	796	c.796G>T	c.(796-798)Gtg>Ttg	p.V266L		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	266					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.V266L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GAAATATTCTGTGGCCCAGCA	0.413000													14	108					6.72482e-11	7.88228e-11	0.479597	1	0
KCNMA1	3778	broad.mit.edu	37	10	78708951	78708951	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:78708951G>C	ENST00000286627.5	-	21	3436	c.2484C>G	c.(2482-2484)ctC>ctG	p.L828L	KCNMA1_ENST00000286628.8_Silent_p.L886L|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404857.1_Silent_p.L869L|KCNMA1_ENST00000406533.3_Silent_p.L890L|KCNMA1_ENST00000404771.3_Silent_p.L886L|KCNMA1_ENST00000372440.1_Silent_p.L828L|KCNMA1_ENST00000372443.1_Silent_p.L828L|RP11-443A13.5_ENST00000598613.1_RNA|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000354353.5_Silent_p.L889L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	886					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	p.L890L(1)|p.L828L(1)		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)	ATTCCCGCTTGAGGTACTCAA	0.483000													15	386					0	0	0.479597	0	0
ZBBX	79740	broad.mit.edu	37	3	167078466	167078466	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:167078466G>T	ENST00000392766.2	-	7	659	c.319C>A	c.(319-321)Caa>Aaa	p.Q107K	ZBBX_ENST00000307529.5_Missense_Mutation_p.Q107K|ZBBX_ENST00000455345.2_Missense_Mutation_p.Q107K|ZBBX_ENST00000392764.1_Missense_Mutation_p.Q78K|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.Q107K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	107						intracellular	zinc ion binding	p.Q107K(4)		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						TATTTACCTTGAATCTGTTCC	0.269000													23	45					3.80469e-20	4.93523e-20	0.740014	1	0
DGKB	1607	broad.mit.edu	37	7	14661113	14661113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:14661113G>A	ENST00000403951.2	-	15	1596	c.1177C>T	c.(1177-1179)Caa>Taa	p.Q393*	DGKB_ENST00000399322.3_Nonsense_Mutation_p.Q393*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.Q393*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.Q385*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.Q374*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.Q393*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Nonsense_Mutation_p.Q392*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	393					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	p.Q393*(2)		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)	ACTGTTGATTGTCTTTCCTGT	0.294000													3	23					0	0	0.150653	0	0
LPAR4	2846	broad.mit.edu	37	X	78010954	78010954	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:78010954C>A	ENST00000435339.2	+	2	993	c.588C>A	c.(586-588)gtC>gtA	p.V196V	LPAR4_ENST00000373301.2_Silent_p.V196V	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	196						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.V196V(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCAAACGTGTCTGGAAGACTT	0.413000													23	31					1.13719e-10	1.32835e-10	0.729181	1	0
TNN	63923	broad.mit.edu	37	1	175063368	175063368	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:175063368G>A	ENST00000239462.4	+	7	1680	c.1567G>A	c.(1567-1569)Gct>Act	p.A523T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	523	Fibronectin type-III 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.A523T(2)		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)		GAGCAAGAAAGCTGACACCAA	0.532000													17	96					0	0	0.654019	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236626	26236626	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:26236626T>G	ENST00000354667.4	-	5	480	c.312A>C	c.(310-312)aaA>aaC	p.K104N	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.K92N	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	104	RRM 1.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	p.K104N(2)|p.K92N(2)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						GAGCCCCTGGTTTTCCAGATT	0.393000			T	ETV1	prostate								6	41					0	0	0.278610	0	0
MLIP	90523	broad.mit.edu	37	6	54025173	54025173	+	Missense_Mutation	SNP	T	T	A	rs142613357	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:54025173T>A	ENST00000514921.1	+	6	2378	c.2265T>A	c.(2263-2265)gaT>gaA	p.D755E	MLIP_ENST00000370876.2_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000502396.1_Missense_Mutation_p.D766E|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370877.2_Missense_Mutation_p.D155E|MLIP_ENST00000274897.5_Missense_Mutation_p.D231E			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	231						nuclear envelope|PML body	protein binding	p.D231E(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AGGCACTAGATGAACCAGCCA	0.383000													17	42					0	0	0.575678	0	0
MYH6	4624	broad.mit.edu	37	14	23851669	23851669	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:23851669G>T	ENST00000405093.3	-	38	5834	c.5764C>A	c.(5764-5766)Ctt>Att	p.L1922I	MYH6_ENST00000356287.3_Missense_Mutation_p.L1922I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1922					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	p.L1922I(2)		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)		TTGGCTCGAAGCTTGTTGACC	0.592000													20	122					4.54149e-19	5.87976e-19	0.624587	1	0
ZIC4	84107	broad.mit.edu	37	3	147108910	147108910	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:147108910C>T	ENST00000383075.3	-	4	1324	c.812G>A	c.(811-813)tGc>tAc	p.C271Y	ZIC4_ENST00000491672.1_Missense_Mutation_p.C65Y|ZIC4_ENST00000473123.1_Missense_Mutation_p.C271Y|ZIC4_ENST00000484399.1_Missense_Mutation_p.C271Y|ZIC4_ENST00000525172.2_Missense_Mutation_p.C321Y|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.C309Y	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	271						nucleus	DNA binding|zinc ion binding	p.C271Y(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCACTTGTCGCAGCCCCGCAC	0.637000													36	58					0	0	0.827153	0	0
GLRA2	2742	broad.mit.edu	37	X	14627186	14627186	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:14627186C>T	ENST00000218075.4	+	7	1319	c.789C>T	c.(787-789)atC>atT	p.I263I	GLRA2_ENST00000443437.2_Silent_p.I174I|GLRA2_ENST00000355020.4_Silent_p.I263I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	263					neuropeptide signaling pathway	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	p.I263I(4)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AGATGTACATCCCAAGCCTGC	0.433000													25	80					0	0	0.693898	0	0
ZBTB20	26137	broad.mit.edu	37	3	114057870	114057870	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:114057870C>A	ENST00000462705.1	-	12	2810	c.1989G>T	c.(1987-1989)atG>atT	p.M663I	ZBTB20_ENST00000393785.2_Missense_Mutation_p.M663I|ZBTB20_ENST00000481632.1_Missense_Mutation_p.M663I|ZBTB20_ENST00000474710.1_Missense_Mutation_p.M736I|ZBTB20_ENST00000357258.3_Missense_Mutation_p.M663I|ZBTB20_ENST00000471418.1_Missense_Mutation_p.M663I|ZBTB20_ENST00000464560.1_Missense_Mutation_p.M663I	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M663I(2)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CAGACACATGCATCCTCATGT	0.453000													25	63					1.77063e-15	2.19236e-15	0.693898	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32893876	32893876	+	RNA	SNP	T	T	C	rs147755948	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:32893876T>C	ENST00000330048.5	-	0	1381					NR_003083.2																						GACAGGGGACTGGCGGTCAGC	0.612000													4	46					0	0	0.335167	0	0
RYR2	6262	broad.mit.edu	37	1	237947674	237947674	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:237947674G>T	ENST00000366574.2	+	90	12979	c.12662G>T	c.(12661-12663)aGc>aTc	p.S4221I	RYR2_ENST00000360064.6_Missense_Mutation_p.S4227I|RYR2_ENST00000542537.1_Missense_Mutation_p.S4205I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4221					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	p.S4219I(1)		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)			AAGGAAGAAAGCGAGAAGGAG	0.542000													8	117					9.70103e-10	1.11973e-09	0.361761	1	0
RIMS2	9699	broad.mit.edu	37	8	104927789	104927789	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:104927789A>C	ENST00000507740.1	+	5	1539	c.1303A>C	c.(1303-1305)Agt>Cgt	p.S435R	RIMS2_ENST00000262231.10_Missense_Mutation_p.S482R|RIMS2_ENST00000406091.3_Missense_Mutation_p.S627R|RIMS2_ENST00000436393.2_Missense_Mutation_p.S405R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	705					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S435R(2)|p.S710R(1)|p.S405R(1)|p.S627R(1)		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)			AAAAAAAGGAAGTTTAGCTGA	0.323000										HNSCC(12;0.0054)			10	48					0	0	0.435327	0	0
GALNT15	117248	broad.mit.edu	37	3	16254145	16254145	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:16254145G>T	ENST00000339732.5	+	6	1770	c.1267G>T	c.(1267-1269)Gat>Tat	p.D423Y	GALNT15_ENST00000437509.1_Missense_Mutation_p.D423Y	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15									p.D423Y(2)									CCAAAATCAGGATTCCCATTC	0.537000													38	55					1.96642e-18	2.52666e-18	0.827153	1	0
STAB2	55576	broad.mit.edu	37	12	104098343	104098343	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:104098343G>A	ENST00000388887.2	+	36	4055	c.3851G>A	c.(3850-3852)tGt>tAt	p.C1284Y		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1284					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	p.C1284Y(2)		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						AAGGGAAGATGTAGGACATGC	0.373000													10	37					0	0	0.435327	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925273	4925273	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrY:4925273C>G	ENST00000333703.4	+	4	889	c.376C>G	c.(376-378)Cat>Gat	p.H126D	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.H137D|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.H137D	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	137	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H137D(4)|p.H126D(2)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAGGGATGAGCATTGCTTTTA	0.408000													82	33					0	0	0.870114	0	0
HSPA8	3312	broad.mit.edu	37	11	122930824	122930824	+	Splice_Site	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:122930824C>T	ENST00000534624.1	-	4	840	c.564_splice	c.e4+1	p.K188_splice	HSPA8_ENST00000526110.1_Splice_Site_p.K169_splice|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000453788.2_Splice_Site_p.K188_splice|HSPA8_ENST00000227378.3_Splice_Site_p.K188_splice|HSPA8_ENST00000532636.1_Splice_Site_p.K188_splice|HSPA8_ENST00000534319.1_5'UTR	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	188	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	p.K188K(2)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		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;0.0279)		TGGTACATACCTTTTTGTCTA	0.368000													13	106					0	0	0.500413	0	0
HRG	3273	broad.mit.edu	37	3	186395193	186395193	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:186395193C>T	ENST00000232003.4	+	7	1179	c.1099C>T	c.(1099-1101)Cat>Tat	p.H367Y		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	367	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	p.H367Y(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		acaccatccccatgcacacca	0.512000													16	32					0	0	0.520397	0	0
CFHR5	81494	broad.mit.edu	37	1	196971714	196971714	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:196971714G>T	ENST00000367414.5	+	8	1378	c.1322G>T	c.(1321-1323)tGt>tTt	p.C441F	CFHR5_ENST00000256785.4_Missense_Mutation_p.C417F	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	417	Sushi 7.				complement activation, alternative pathway	extracellular region		p.C417F(2)		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						GCTGTTCTCTGTAAAGAAAAC	0.388000													6	26					0.00198382	0.00205005	0.248553	1	0
ABCA8	10351	broad.mit.edu	37	17	66891114	66891114	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:66891114C>A	ENST00000269080.2	-	20	2822	c.2685G>T	c.(2683-2685)caG>caT	p.Q895H	ABCA8_ENST00000586539.1_Missense_Mutation_p.Q935H|ABCA8_ENST00000430352.2_Missense_Mutation_p.Q935H	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	895						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q895H(2)|p.Q895Q(1)		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)					AAGCTATGTTCTGGTGCTCCA	0.378000													19	102					1.2644e-06	1.3912e-06	0.592651	1	0
SPATA21	374955	broad.mit.edu	37	1	16727321	16727321	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:16727321C>T	ENST00000335496.1	-	11	1550	c.1068G>A	c.(1066-1068)cgG>cgA	p.R356R	SPATA21_ENST00000540400.1_Silent_p.R333R|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	356							calcium ion binding	p.R356R(2)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GCAACCGCAGCCGGCCTACGG	0.592000													37	116					0	0	0.870114	0	0
CNOT1	23019	broad.mit.edu	37	16	58580244	58580244	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:58580244G>C	ENST00000317147.5	-	29	4319	c.3987C>G	c.(3985-3987)ctC>ctG	p.L1329L	CNOT1_ENST00000441024.2_Silent_p.L1329L|CNOT1_ENST00000245138.4_Silent_p.L180L|CNOT1_ENST00000569240.1_Silent_p.L1324L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1329					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.L1329L(4)		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)		TGATGGGAGGGAGTTCTTCTG	0.413000													28	123					0	0	0.769981	0	0
POLD1	5424	broad.mit.edu	37	19	50905742	50905742	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:50905742A>G	ENST00000440232.2	+	7	843	c.790A>G	c.(790-792)Aac>Gac	p.N264D	POLD1_ENST00000599857.1_Missense_Mutation_p.N264D|POLD1_ENST00000595904.1_Missense_Mutation_p.N264D	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	264					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|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|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	p.N264D(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGTCGGCTGCAACTGGCTGGA	0.667000								DNA polymerases (catalytic subunits)					6	7					0	0	0.217242	0	0
FAM96A	84191	broad.mit.edu	37	15	64380925	64380925	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:64380925T>A	ENST00000557835.1	-	2	276	c.250A>T	c.(250-252)Acg>Tcg	p.T84S	FAM96A_ENST00000300030.3_Missense_Mutation_p.T84S|FAM96A_ENST00000380290.3_Missense_Mutation_p.T84S|FAM96A_ENST00000559950.1_Missense_Mutation_p.T84S			Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	84					chromosome segregation			p.T84S(2)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						ACTGTTGGCGTGAACCTGATA	0.348000													7	7					0	0	0.307466	0	0
TMEM176B	28959	broad.mit.edu	37	7	150488637	150488637	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:150488637G>A	ENST00000447204.2	-	7	1167	c.795C>T	c.(793-795)tcC>tcT	p.S265S	TMEM176B_ENST00000434545.1_Silent_p.S265S|TMEM176B_ENST00000326442.5_Silent_p.S265S|TMEM176B_ENST00000450753.2_Silent_p.S228S|TMEM176B_ENST00000429904.2_Silent_p.S265S|TMEM176B_ENST00000492607.1_Silent_p.S265S	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	265					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		p.S265S(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAATGGCAGTGGAGGTCTGCT	0.577000													7	144					0	0	0.278610	0	0
ABCA9	10350	broad.mit.edu	37	17	67031811	67031811	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:67031811C>T	ENST00000340001.4	-	7	1143	c.932G>A	c.(931-933)gGc>gAc	p.G311D	ABCA9_ENST00000370732.2_Missense_Mutation_p.G311D|ABCA9_ENST00000453985.2_Missense_Mutation_p.G311D	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	311					transport	integral to membrane	ATP binding|ATPase activity	p.G311D(2)		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)					CAAAGACAGGCCATAGAGGAG	0.383000													34	66					0	0	0.827153	0	0
FAM111B	374393	broad.mit.edu	37	11	58891882	58891882	+	Missense_Mutation	SNP	C	C	A	rs150852006		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:58891882C>A	ENST00000343597.3	+	4	503	c.312C>A	c.(310-312)agC>agA	p.S104R	FAM111B_ENST00000411426.1_Missense_Mutation_p.S74R|FAM111B_ENST00000529618.1_Missense_Mutation_p.S74R	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	104				S -> G (in Ref. 3; AAH62456).			catalytic activity	p.S104R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GTAAACCCAGCGAGAGTATCT	0.338000													64	105					5.44642e-36	7.56941e-36	0.870114	1	0
DDB1	1642	broad.mit.edu	37	11	61077340	61077340	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:61077340C>T	ENST00000301764.7	-	20	2891	c.2494G>A	c.(2494-2496)Ggc>Agc	p.G832S	DDB1_ENST00000450997.2_Missense_Mutation_p.G143S	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	832	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	p.G832S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATTGCTGTGCCCACAATGAAG	0.512000								Nucleotide excision repair (NER)					12	82					0	0	0.435327	0	0
ZNF658	26149	broad.mit.edu	37	9	40772612	40772612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:40772612C>A	ENST00000602553.1	-	5	2957	c.2663G>T	c.(2662-2664)gGg>gTg	p.G888V	ZNF658_ENST00000377626.3_Missense_Mutation_p.G888V|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	888					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G888V(2)		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)		GAAAGTCTTCCCACAGTCATT	0.453000													36	56					9.39024e-22	1.23451e-21	0.847076	1	0
ZNF569	148266	broad.mit.edu	37	19	37903769	37903769	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:37903769C>A	ENST00000316950.6	-	6	2348	c.1791G>T	c.(1789-1791)atG>atT	p.M597I	ZNF569_ENST00000392150.2_Missense_Mutation_p.M438I|ZNF569_ENST00000392149.2_Missense_Mutation_p.M597I	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M597I(2)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGGCCTCTCATGTGCACAA	0.403000													62	68					7.82978e-24	1.04142e-23	0.870114	1	0
POTEC	388468	broad.mit.edu	37	18	14513721	14513721	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:14513721A>G	ENST00000358970.5	-	10	1472	c.1473T>C	c.(1471-1473)gaT>gaC	p.D491D		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	491								p.D491D(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCAGAATCTCATCTTGTGATA	0.313000													4	39					0	0	0.184627	0	0
ZPBP2	124626	broad.mit.edu	37	17	38031516	38031516	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:38031516C>T	ENST00000377940.3	+	6	791	c.652C>T	c.(652-654)Cga>Tga	p.R218*	ZPBP2_ENST00000584588.1_Nonsense_Mutation_p.R167*|ZPBP2_ENST00000348931.4_Nonsense_Mutation_p.R240*	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	240					binding of sperm to zona pellucida	extracellular region		p.R240*(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGCAAGAGATCGAATAGAAGA	0.358000													6	93					0	0	0.248553	0	0
PCSK5	5125	broad.mit.edu	37	9	78969058	78969058	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:78969058A>G	ENST00000545128.1	+	36	5634	c.5096A>G	c.(5095-5097)gAc>gGc	p.D1699G		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	764					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.D1699G(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CACATGGACGACAGCCACTGC	0.592000													20	21					0	0	0.681144	0	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81442884	81442884	+	RNA	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:81442884A>T	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GGCCAGCCAGACTCCATCCCC	0.597000													10	13					0	0	0.387290	0	0
CSMD3	114788	broad.mit.edu	37	8	113275989	113275989	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:113275989T>A	ENST00000297405.5	-	61	9985	c.9741A>T	c.(9739-9741)acA>acT	p.T3247T	CSMD3_ENST00000352409.3_Silent_p.T3177T|CSMD3_ENST00000455883.2_Silent_p.T3078T|CSMD3_ENST00000343508.3_Silent_p.T3207T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3247	Sushi 25.					integral to membrane|plasma membrane		p.T3247T(1)|p.T3207T(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						AGTCGAAATTTGTTCCTTCCA	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	95					0	0	0.217242	0	0
HECW2	57520	broad.mit.edu	37	2	197298062	197298062	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:197298062T>A	ENST00000260983.2	-	2	268	c.86A>T	c.(85-87)cAg>cTg	p.Q29L		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	29					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.Q29L(2)		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						GGCAAGGCTCTGGAGGTTCTC	0.592000													40	105					0	0	0.840704	0	0
AGTR1	185	broad.mit.edu	37	3	148459426	148459426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:148459426C>A	ENST00000542281.1	+	4	1050	c.604C>A	c.(604-606)Ctg>Atg	p.L202M	AGTR1_ENST00000402260.1_Missense_Mutation_p.L202M|AGTR1_ENST00000475347.1_Missense_Mutation_p.L202M|AGTR1_ENST00000497524.1_Missense_Mutation_p.L202M|AGTR1_ENST00000474935.1_Missense_Mutation_p.L202M|AGTR1_ENST00000404754.2_Missense_Mutation_p.L202M|AGTR1_ENST00000418473.2_Missense_Mutation_p.L202M|AGTR1_ENST00000349243.3_Missense_Mutation_p.L202M|AGTR1_ENST00000461609.1_Missense_Mutation_p.L202M	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	202					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.L202M(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CAAAAATATACTGGGTTTCCT	0.373000													5	23					0.014758	0.0150003	0.184627	1	0
GABRA3	2556	broad.mit.edu	37	X	151533027	151533027	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:151533027T>A	ENST00000370314.4	-	2	254	c.16A>T	c.(16-18)Aca>Tca	p.T6S	GABRA3_ENST00000535043.1_Missense_Mutation_p.T6S|GABRA3_ENST00000370311.1_Missense_Mutation_p.T6S	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	6					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	p.T6S(2)		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)	CAGTGACTTGTTTGTGTGATT	0.433000													46	227					0	0	0.870114	0	0
HERC4	26091	broad.mit.edu	37	10	69716678	69716678	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:69716678G>T	ENST00000395198.3	-	18	2253	c.2006C>A	c.(2005-2007)gCa>gAa	p.A669E	HERC4_ENST00000373700.4_Missense_Mutation_p.A661E|HERC4_ENST00000412272.2_Missense_Mutation_p.A669E|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Missense_Mutation_p.A559E	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	669					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	p.A669E(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AGTAGTTTTTGCTTGGGCATC	0.318000													9	97					4.68919e-08	5.29575e-08	0.361761	1	0
SPEG	10290	broad.mit.edu	37	2	220333307	220333307	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:220333307G>A	ENST00000312358.7	+	11	3282	c.3150G>A	c.(3148-3150)ctG>ctA	p.L1050L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1050	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.L1050L(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAGATGAGCTGACCTGCAGTG	0.642000													82	21					0	0	0.870114	0	0
PCDH9	5101	broad.mit.edu	37	13	67799482	67799482	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:67799482G>C	ENST00000377861.3	-	2	3777	c.3091C>G	c.(3091-3093)Cag>Gag	p.Q1031E	PCDH9_ENST00000544246.1_Intron|PCDH9_ENST00000456367.1_Intron|PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000377865.2_Intron			Q9HC56	PCDH9_HUMAN	protocadherin 9	0					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)		CGTTAATACTGGTTGACTGGG	0.428000													22	14					0	0	0.639603	0	0
RHBDD1	84236	broad.mit.edu	37	2	227731981	227731981	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:227731981G>A	ENST00000392062.2	+	5	1037	c.513G>A	c.(511-513)ccG>ccA	p.P171P	RHBDD1_ENST00000341329.3_Silent_p.P171P	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	171						integral to membrane	serine-type endopeptidase activity	p.P171P(3)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTCCTGTACCGAACAGATTTG	0.398000													101	286					0	0	0.870114	0	0
NSF	4905	broad.mit.edu	37	17	44782158	44782158	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:44782158G>A	ENST00000398238.4	+	13	1515	c.1408G>A	c.(1408-1410)Gca>Aca	p.A470T	NSF_ENST00000575068.1_Missense_Mutation_p.A465T|NSF_ENST00000225282.8_Missense_Mutation_p.A376T	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	470					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	p.A470T(2)		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)		CATGGAGAAAGCAGAAAGCCT	0.378000													17	112					0	0	0.557998	0	0
C2CD3	26005	broad.mit.edu	37	11	73825446	73825446	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:73825446C>T	ENST00000334126.7	-	10	1939	c.1713G>A	c.(1711-1713)gtG>gtA	p.V571V	C2CD3_ENST00000313663.7_Silent_p.V571V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	571						centrosome		p.V571V(4)		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)					TTGCTGTAGTCACCTTAGGTG	0.408000													16	39					0	0	0.500413	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090281	238090281	+	RNA	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:238090281G>T	ENST00000450451.1	+	0	1787					NR_027247.2																						GGGCCAGAAGGACTCCTACGT	0.602000													44	48					2.37825e-27	3.20077e-27	0.853193	1	0
TEP1	7011	broad.mit.edu	37	14	20859894	20859894	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:20859894C>G	ENST00000262715.5	-	13	2001	c.1961G>C	c.(1960-1962)aGg>aCg	p.R654T	TEP1_ENST00000556935.1_Missense_Mutation_p.R546T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	654	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.R654T(2)		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)		CTGTCGGTACCTGTTCAGCAT	0.542000													60	264					0	0	0.870114	0	0
SSTR4	6754	broad.mit.edu	37	20	23016252	23016252	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:23016252G>T	ENST00000255008.3	+	1	196	c.132G>T	c.(130-132)gcG>gcT	p.A44A	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	44					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.A44A(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					acgcgcgggcggcgggcATGG	0.711000													9	15					2.74318e-10	3.19334e-10	0.335167	1	0
CDC25A	993	broad.mit.edu	37	3	48207217	48207217	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:48207217G>C	ENST00000302506.3	-	12	1508	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	CDC25A_ENST00000459900.1_5'UTR|CDC25A_ENST00000351231.3_Missense_Mutation_p.S327C	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	367					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	p.S367C(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ATTCAAAACAGATGCCATCTG	0.423000													23	113					0	0	0.639603	0	0
HIST1H2AJ	8331	broad.mit.edu	37	6	27782453	27782453	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:27782453G>T	ENST00000333151.3	-	1	154	c.66C>A	c.(64-66)gcC>gcA	p.A22A		NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	22					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A22A(3)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						ACTGAAGCCCGGCCCGAGAAG	0.622000													10	25					0.0167234	0.0169726	0.435327	1	0
PZP	5858	broad.mit.edu	37	12	9344799	9344799	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:9344799C>A	ENST00000261336.2	-	13	1564	c.1536G>T	c.(1534-1536)gaG>gaT	p.E512D	PZP_ENST00000381997.2_Missense_Mutation_p.E381D	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.E512D(2)|p.E381D(2)		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						TGTCTCCTGACTCCACAGGCA	0.463000													99	157					1.3211e-41	1.84736e-41	0.870114	1	0
C4orf21	55345	broad.mit.edu	37	4	113461166	113461166	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:113461166C>T	ENST00000505019.1	-	27	6150	c.6025G>A	c.(6025-6027)Gta>Ata	p.V2009I	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0								p.V2009I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTGTCCTTACACAGGACAGA	0.403000													7	24					0	0	0.307466	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396791	38396791	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:38396791G>T	ENST00000377698.3	+	2	1199	c.1046G>T	c.(1045-1047)gGg>gTg	p.G349V		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	349					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.G349V(2)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	AGGAAAGTGGGGAACCCCTTT	0.572000													39	16					6.19805e-25	8.29248e-25	0.812448	1	0
HIP1	3092	broad.mit.edu	37	7	75171247	75171247	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:75171247C>A	ENST00000336926.6	-	29	2969	c.2943G>T	c.(2941-2943)atG>atT	p.M981I	HIP1_ENST00000434438.2_Missense_Mutation_p.M930I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	981	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.M983I(2)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCTGAGAATCCATCTCTTGGC	0.453000			T	PDGFRB	CMML								22	67					2.39556e-15	2.96076e-15	0.639603	1	0
PTCHD2	57540	broad.mit.edu	37	1	11596438	11596438	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:11596438G>T	ENST00000294484.6	+	21	4012	c.3874G>T	c.(3874-3876)Gcc>Tcc	p.A1292S	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A1292S|PTCHD2_ENST00000304391.6_Missense_Mutation_p.G178V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1292					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.A1509S(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTGGGCGTGGCCATCGTCTC	0.657000													17	32					2.5808e-16	3.23669e-16	0.539581	1	0
OR5A2	219981	broad.mit.edu	37	11	59190132	59190132	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:59190132C>G	ENST00000302040.4	-	1	317	c.295G>C	c.(295-297)Gcc>Ccc	p.A99P		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A99P(2)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TACTGAGTGGCACAGCCAACA	0.512000													76	107					0	0	0.870114	0	0
KHDC3L	154288	broad.mit.edu	37	6	74072525	74072525	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:74072525G>A	ENST00000370367.3	+	1	126	c.73G>A	c.(73-75)Ggt>Agt	p.G25S		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member									p.G25S(2)|p.G25R(1)									GGAGGTGCTCGGTCACCTCCC	0.577000													4	45					0	0	0.184627	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294756	110294756	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:110294756T>C	ENST00000369805.3	-	15	1527	c.1298A>G	c.(1297-1299)cAt>cGt	p.H433R	EPS8L3_ENST00000361965.4_Missense_Mutation_p.H432R|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Intron	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	432						cytoplasm	protein binding	p.H433R(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTGAGGGTCATGGTTGTGTGT	0.562000													54	171					0	0	0.870114	0	0
DRC1	92749	broad.mit.edu	37	2	26676417	26676417	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:26676417G>T	ENST00000288710.2	+	14	1993	c.1919_splice	c.e14+1	p.R640_splice		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)									p.R640M(2)									AAGAAGCCTAGGTGGGCTGCG	0.612000													6	34					0.00307968	0.00316807	0.278610	1	0
ARSB	411	broad.mit.edu	37	5	78135202	78135202	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:78135202G>A	ENST00000264914.4	-	6	1726	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	ARSB_ENST00000565165.1_Missense_Mutation_p.P397L|ARSB_ENST00000396151.3_Missense_Mutation_p.P397L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	397					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	p.P397L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CACGAAGTTCGGGTCAATATT	0.428000													32	110					0	0	0.840704	0	0
INPP4A	3631	broad.mit.edu	37	2	99193584	99193584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:99193584C>T	ENST00000074304.5	+	25	3172	c.2779C>T	c.(2779-2781)Cag>Tag	p.Q927*	INPP4A_ENST00000523221.1_Nonsense_Mutation_p.Q927*|INPP4A_ENST00000409016.3_Nonsense_Mutation_p.Q888*|INPP4A_ENST00000545415.1_Nonsense_Mutation_p.Q888*|INPP4A_ENST00000409463.1_Nonsense_Mutation_p.Q256*|INPP4A_ENST00000409851.3_Nonsense_Mutation_p.Q922*|INPP4A_ENST00000409540.3_Nonsense_Mutation_p.Q888*	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	927					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.Q888*(2)|p.Q927*(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGTCTTCACCCAGGCCCTGGA	0.662000													27	55					0	0	0.693898	0	0
ATRN	8455	broad.mit.edu	37	20	3529820	3529820	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:3529820C>A	ENST00000262919.5	+	6	1015	c.947C>A	c.(946-948)cCt>cAt	p.P316H	ATRN_ENST00000446916.2_Missense_Mutation_p.P316H	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	316					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.P316H(2)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTATTAGGTCCTGGATGTTCA	0.333000													90	282					1.36798e-35	1.89734e-35	0.870114	1	0
CSMD1	64478	broad.mit.edu	37	8	2855548	2855548	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:2855548G>T	ENST00000520002.1	-	55	8920	c.8365C>A	c.(8365-8367)Ctg>Atg	p.L2789M	CSMD1_ENST00000400186.3_Missense_Mutation_p.L2731M|CSMD1_ENST00000602723.1_Missense_Mutation_p.L2731M|CSMD1_ENST00000602557.1_Missense_Mutation_p.L2789M|CSMD1_ENST00000542608.1_Missense_Mutation_p.L2730M|CSMD1_ENST00000537824.1_Missense_Mutation_p.L2788M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2789	Sushi 19.					integral to membrane		p.L2788M(2)|p.L2517M(2)		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)		CACGTGGGCAGAGGGCTACTC	0.557000													37	94					1.69901e-12	2.03702e-12	0.812448	1	0
RFTN2	130132	broad.mit.edu	37	2	198482528	198482528	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:198482528A>G	ENST00000295049.3	-	6	1582	c.1046T>C	c.(1045-1047)aTt>aCt	p.I349T		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	349						plasma membrane		p.I349T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GCTCACCTCAATAACAGTCCA	0.313000													18	59					0	0	0.624587	0	0
ACCS	84680	broad.mit.edu	37	11	44097136	44097136	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:44097136G>C	ENST00000263776.8	+	6	984	c.550G>C	c.(550-552)Gcc>Ccc	p.A184P	ACCS_ENST00000432284.2_3'UTR|ACCS_ENST00000533208.1_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	184							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.A184P(2)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GCTGTGTGAGGCCGGGGGTAA	0.577000													11	145					0	0	0.387290	0	0
OR2G2	81470	broad.mit.edu	37	1	247751695	247751695	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:247751695C>G	ENST00000320065.1	+	1	34	c.34C>G	c.(34-36)Cta>Gta	p.L12V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L12V(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			TGAGAGCAACCTAGCAGGTTT	0.393000													124	201					0	0	0.870114	0	0
C10orf120	399814	broad.mit.edu	37	10	124457832	124457832	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:124457832A>T	ENST00000329446.4	-	3	456	c.425T>A	c.(424-426)aTa>aAa	p.I142K		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	142								p.I142K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TGCTGTCCATATTTTTTCTAG	0.458000													5	102					0	0	0.184627	0	0
CPSF1	29894	broad.mit.edu	37	8	145623236	145623236	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:145623236A>G	ENST00000349769.3	-	20	2100	c.2006T>C	c.(2005-2007)cTg>cCg	p.L669P		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	669					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	mRNA 3'-UTR binding|protein binding	p.L669P(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACTCTTCAGCAGGAACATGGT	0.677000													5	45					0	0	0.217242	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349570	30349570	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:30349570A>G	ENST00000327564.7	+	1	1547	c.1486A>G	c.(1486-1488)Aag>Gag	p.K496E	LRRC37B_ENST00000543378.2_Missense_Mutation_p.K387E|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000584368.1_Missense_Mutation_p.K481E|LRRC37B_ENST00000394713.3_Missense_Mutation_p.K469E|LRRC37B_ENST00000341671.7_Missense_Mutation_p.K469E			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	469						integral to membrane		p.K469E(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGCCCTGGAGAAGACTAGAGC	0.527000													26	65					0	0	0.812448	0	0
DACH2	117154	broad.mit.edu	37	X	85403695	85403695	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:85403695G>T	ENST00000373131.1	+	1	234	c.71G>T	c.(70-72)cGg>cTg	p.R24L	DACH2_ENST00000373125.4_Missense_Mutation_p.R24L	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.R24L(4)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGCTTATTCCGGGCCGAACCC	0.582000													4	0					2.56e-06	2.79385e-06	0.150653	1	0
MACF1	23499	broad.mit.edu	37	1	39788376	39788376	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:39788376A>G	ENST00000564288.1	+	32	4903	c.4126A>G	c.(4126-4128)Atc>Gtc	p.I1376V	MACF1_ENST00000539005.1_Missense_Mutation_p.I1381V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.I1381V|MACF1_ENST00000317713.7_Missense_Mutation_p.I1381V|MACF1_ENST00000372915.3_Missense_Mutation_p.I1381V|MACF1_ENST00000567887.1_Missense_Mutation_p.I1413V|MACF1_ENST00000361689.2_Missense_Mutation_p.I1381V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1381					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	p.I1381V(3)		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)			TTCAGATGCCATCACTCAAGA	0.488000													43	86					0	0	0.870114	0	0
DLX3	1747	broad.mit.edu	37	17	48072147	48072147	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:48072147A>T	ENST00000434704.2	-	1	441	c.216T>A	c.(214-216)aaT>aaA	p.N72K		NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	72						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N72K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTGCAAGCCCATTGAGATTGA	0.612000													9	31					0	0	0.307466	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014042	75014042	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:75014042A>T	ENST00000379727.3	-	3	1040	c.842T>A	c.(841-843)aTc>aAc	p.I281N	CYP1A1_ENST00000395048.2_Missense_Mutation_p.I281N|CYP1A1_ENST00000395049.4_Missense_Mutation_p.I281N|CYP1A1_ENST00000564596.1_Missense_Mutation_p.I20N|CYP1A1_ENST00000567032.1_Missense_Mutation_p.I281N			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	281					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.I281N(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GCTGTCTGTGATGTCCCGGAT	0.512000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				32	87					0	0	0.796494	0	0
NUDT5	11164	broad.mit.edu	37	10	12209745	12209745	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:12209745G>T	ENST00000491614.1	-	10	1011	c.616C>A	c.(616-618)Cat>Aat	p.H206N	NUDT5_ENST00000378952.3_5'UTR|SEC61A2_ENST00000304267.8_Intron|NUDT5_ENST00000537776.1_Missense_Mutation_p.H206N|NUDT5_ENST00000378937.3_Missense_Mutation_p.H219N|SEC61A2_ENST00000495368.1_Intron			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	206					D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding	p.H206N(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GCATTTGCATGTTTCAGTGCT	0.443000													185	113					1.59496e-127	2.33083e-127	0.870114	1	0
CXCL9	4283	broad.mit.edu	37	4	76927399	76927399	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:76927399A>T	ENST00000264888.5	-	2	131	c.93T>A	c.(91-93)tgT>tgA	p.C31*		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	31					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	p.C31*(2)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGATGCAGGAACAGCGACCCT	0.428000													131	234					0	0	0.870114	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79067005	79067005	+	Missense_Mutation	SNP	T	T	C	rs151217691		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:79067005T>C	ENST00000388820.4	-	12	2047	c.1837A>G	c.(1837-1839)Aag>Gag	p.K613E	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	613	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K613E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCTGGCCCTTGTAGAGCATA	0.642000													5	25					0	0	0.217242	0	0
CD300C	10871	broad.mit.edu	37	17	72540857	72540857	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:72540857C>T	ENST00000330793.1	-	2	651	c.291G>A	c.(289-291)ctG>ctA	p.L97L		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	97	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.L97L(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TGAGATTCTCCAGGGTCACTG	0.552000													44	114					0	0	0.847076	0	0
ATF6B	1388	broad.mit.edu	37	6	32087669	32087669	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:32087669G>A	ENST00000375201.4	-	9	934	c.889C>T	c.(889-891)Cca>Tca	p.P297S	ATF6B_ENST00000375203.3_Missense_Mutation_p.P300S			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	300					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P300S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCAGGCCGTGGTAGAGAGGGA	0.607000													41	112					0	0	0.859065	0	0
PEX11A	8800	broad.mit.edu	37	15	90226986	90226986	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:90226986C>G	ENST00000300056.3	-	3	515	c.366G>C	c.(364-366)agG>agC	p.R122S	PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000561257.1_Missense_Mutation_p.R91S	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	122					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		p.R122S(2)		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)			GGTGAGCAGCCCTCGTTCGCC	0.493000													22	136					0	0	0.654019	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512673	68512673	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:68512673C>A	ENST00000370981.1	-	4	944	c.308G>T	c.(307-309)cGc>cTc	p.R103L	GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.R103L|GNG12-AS1_ENST00000413628.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	103					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.R103L(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATAACGTGGCGCTGCAGAGC	0.577000													99	328					1.64933e-60	2.34978e-60	0.870114	1	0
CWF19L2	143884	broad.mit.edu	37	11	107207336	107207336	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:107207336T>G	ENST00000282251.5	-	15	2333	c.2306A>C	c.(2305-2307)gAa>gCa	p.E769A		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	769							catalytic activity	p.E615A(2)|p.E769A(2)		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)		AGGAATACATTCATAAACCAT	0.333000													34	58					0	0	0.827153	0	0
P2RY10	27334	broad.mit.edu	37	X	78216847	78216847	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:78216847G>C	ENST00000171757.2	+	4	1110	c.830G>C	c.(829-831)tGt>tCt	p.C277S	P2RY10_ENST00000544091.1_Missense_Mutation_p.C277S	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	277						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.C277S(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						ATTAGCAGTTGTCCCGTTGTC	0.413000													141	167					0	0	0.870114	0	0
DENND2A	27147	broad.mit.edu	37	7	140301227	140301227	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:140301227C>G	ENST00000275884.6	-	2	1388	c.971G>C	c.(970-972)aGa>aCa	p.R324T	DENND2A_ENST00000537639.1_Missense_Mutation_p.R324T|DENND2A_ENST00000496613.1_Missense_Mutation_p.R324T|DENND2A_ENST00000492720.1_Missense_Mutation_p.R324T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	324								p.R324T(2)		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)					GGATTTCTGTCTCCCGGTCCA	0.572000													10	98					0	0	0.361761	0	0
GPR101	83550	broad.mit.edu	37	X	136112543	136112543	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:136112543C>T	ENST00000298110.1	-	1	1290	c.1291G>A	c.(1291-1293)Gta>Ata	p.V431I		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	431						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V431I(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CACTGGGGTACCTGGGTTTCG	0.493000													14	63					0	0	0.435327	0	0
LINGO2	158038	broad.mit.edu	37	9	27949535	27949535	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:27949535G>T	ENST00000379992.2	-	6	1584	c.1135C>A	c.(1135-1137)Caa>Aaa	p.Q379K	LINGO2_ENST00000308675.3_Missense_Mutation_p.Q379K	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	379	LRRCT.					integral to membrane		p.Q379K(4)		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)		CACATAGGTTGCTGGCCACCA	0.517000													18	12					7.07596e-05	7.54105e-05	0.539581	1	0
ATG7	10533	broad.mit.edu	37	3	11382132	11382132	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:11382132A>G	ENST00000354449.3	+	10	928	c.903A>G	c.(901-903)gcA>gcG	p.A301A	ATG7_ENST00000446450.2_Silent_p.A262A|ATG7_ENST00000354956.5_Silent_p.A301A	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	301					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	p.A301A(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GTCCTAAAGCAGTTGGATGGG	0.393000													32	152					0	0	0.796494	0	0
ARMC3	219681	broad.mit.edu	37	10	23270366	23270366	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:23270366A>T	ENST00000298032.5	+	9	1098	c.1014A>T	c.(1012-1014)caA>caT	p.Q338H	ARMC3_ENST00000376528.4_Missense_Mutation_p.Q75H|ARMC3_ENST00000409983.3_Missense_Mutation_p.Q338H|ARMC3_ENST00000409049.3_Missense_Mutation_p.Q338H	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	338							binding	p.Q338H(1)		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						CTGCTTCCCAAGCTATTTCAG	0.363000													5	47					0	0	0.248553	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386491	41386491	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:41386491C>A	ENST00000301146.4	-	3	927	c.386G>T	c.(385-387)cGc>cTc	p.R129L	CYP2A7_ENST00000291764.3_Missense_Mutation_p.R78L|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	129						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R129L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GATGGCAAAGCGCAGGAGCTG	0.697000													9	54					0.00010058	0.000106856	0.411799	1	0
SLC5A8	160728	broad.mit.edu	37	12	101560478	101560478	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:101560478C>A	ENST00000536262.2	-	12	1879		c.e12-1			NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8						apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.?(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAAGTGCTCCCTGTAAAACAA	0.358000													5	23					0.00116845	0.00121297	0.217242	1	0
NCKAP5	344148	broad.mit.edu	37	2	133489461	133489461	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:133489461C>A	ENST00000409261.1	-	17	5665	c.5292G>T	c.(5290-5292)atG>atT	p.M1764I	NCKAP5_ENST00000317721.6_Missense_Mutation_p.M1764I|NCKAP5_ENST00000409213.1_Missense_Mutation_p.M445I|NCKAP5_ENST00000405974.3_Missense_Mutation_p.M445I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1764							protein binding	p.M1764I(2)|p.M284I(2)		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						TTTGGGCTCTCATGGAAGAAA	0.582000													28	220					1.39806e-14	1.70623e-14	0.729181	1	0
FRMPD2	143162	broad.mit.edu	37	10	49371699	49371699	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:49371699C>T	ENST00000374201.3	-	28	3855	c.3553G>A	c.(3553-3555)Gct>Act	p.A1185T	FRMPD2_ENST00000474573.1_Missense_Mutation_p.A137T|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A1160T|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A1153T	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1185					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.A1185T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTTTGTCAGCTGAGAGTTCA	0.458000													13	268					0	0	0.575678	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923368	159923368	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:159923368G>T	ENST00000368093.3	-	2	238	c.122C>A	c.(121-123)cCc>cAc	p.P41H	SLAMF9_ENST00000368092.3_Missense_Mutation_p.P41H	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	41						integral to membrane		p.P41H(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TATTTCCAGGGGGAGGCTGAT	0.527000													41	118					1.61004e-24	2.14987e-24	0.870114	1	0
MFSD8	256471	broad.mit.edu	37	4	128842683	128842683	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:128842683G>A	ENST00000296468.3	-	12	1473	c.1346C>T	c.(1345-1347)cCt>cTt	p.P449L	MFSD8_ENST00000513559.1_Missense_Mutation_p.P404L|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	449					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.P449L(2)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GCTTACCTGAGGTTTTGGTCC	0.378000													11	17					0	0	0.457914	0	0
MADD	8567	broad.mit.edu	37	11	47314115	47314115	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:47314115A>C	ENST00000311027.5	+	21	3548	c.3383A>C	c.(3382-3384)gAa>gCa	p.E1128A	MADD_ENST00000395344.3_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000405573.2_5'UTR|MADD_ENST00000349238.3_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000395336.3_Missense_Mutation_p.E1128A|MADD_ENST00000402192.2_Intron|MADD_ENST00000407859.3_Intron	NM_003682.3	NP_003673.3	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1128					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	p.E1128A(2)		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)		AAGCACCAGGAAGTGAAAAAG	0.493000													19	41					0	0	0.654019	0	0
NEGR1	257194	broad.mit.edu	37	1	72163734	72163734	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:72163734A>T	ENST00000357731.4	-	4	863	c.624T>A	c.(622-624)gaT>gaA	p.D208E	NEGR1_ENST00000434200.1_Intron|NEGR1_ENST00000306821.3_Missense_Mutation_p.D80E|NEGR1_ENST00000467479.1_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	208	Ig-like C2-type 2.			D -> A (in Ref. 2).	cell adhesion	anchored to membrane|plasma membrane		p.D208E(2)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGAATGACACATCATTTTCCG	0.353000													14	78					0	0	0.500413	0	0
HSPA9	3313	broad.mit.edu	37	5	137909529	137909529	+	Missense_Mutation	SNP	T	T	C	rs138260125		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:137909529T>C	ENST00000297185.3	-	3	276	c.151A>G	c.(151-153)Atc>Gtc	p.I51V		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	51					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	p.I51V(2)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTCCCTTGATTGCTTCTGAT	0.373000													8	30					0	0	0.307466	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107035616	107035616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:107035616G>A	ENST00000369063.3	-	7	1393	c.928C>T	c.(928-930)Cga>Tga	p.R310*	RTN4IP1_ENST00000539449.1_Intron	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	310						mitochondrion	oxidoreductase activity|zinc ion binding	p.R310*(2)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		ATGCCCAATCGGTCCATGTTC	0.502000													36	65					0	0	0.819951	0	0
TRPM2	7226	broad.mit.edu	37	21	45860723	45860723	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr21:45860723G>A	ENST00000397928.1	+	31	4766	c.4321G>A	c.(4321-4323)Gag>Aag	p.E1441K	TRPM2_ENST00000300481.9_Missense_Mutation_p.E1387K|TRPM2_ENST00000397932.2_Missense_Mutation_p.E1491K|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.E1441K	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1441	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.E1441K(1)		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						TGCCTGGATCGAGACGGTGGC	0.622000													6	83					0	0	0.335167	0	0
TENM1	10178	broad.mit.edu	37	X	123631060	123631060	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:123631060G>C	ENST00000422452.2	-	20	3564	c.3501C>G	c.(3499-3501)gtC>gtG	p.V1167V	TENM1_ENST00000371130.3_Silent_p.V1167V	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.V1169V(2)									TGGTTGATATGACTGGGGGCT	0.423000													46	25					0	0	0.870114	0	0
UNC13C	440279	broad.mit.edu	37	15	54307661	54307661	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:54307661C>A	ENST00000545554.1	+	1	2561	c.2561C>A	c.(2560-2562)aCg>aAg	p.T854K	UNC13C_ENST00000260323.11_Missense_Mutation_p.T854K|UNC13C_ENST00000537900.1_Missense_Mutation_p.T854K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	854					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.T854K(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GATGTCTACACGGAGCCCTAT	0.423000													22	78					1.50039e-11	1.77698e-11	0.608945	1	0
SIM1	6492	broad.mit.edu	37	6	100838954	100838954	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:100838954C>A	ENST00000369208.3	-	12	2366	c.1584G>T	c.(1582-1584)tgG>tgT	p.W528C	SIM1_ENST00000262901.4_Missense_Mutation_p.W528C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	528	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.W528C(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TATCTTCATCCCAATGACCTC	0.403000													20	63					6.36457e-07	7.0476e-07	0.667858	1	0
CXCR6	10663	broad.mit.edu	37	3	45988293	45988293	+	Missense_Mutation	SNP	G	G	A	rs151224196	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:45988293G>A	ENST00000458629.1	+	1	1783	c.320G>A	c.(319-321)gGc>gAc	p.G107D	CXCR6_ENST00000438735.1_Missense_Mutation_p.G107D|CXCR6_ENST00000457814.1_Missense_Mutation_p.G107D|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.G107D|FYCO1_ENST00000296137.2_Intron|FYCO1_ENST00000535325.1_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	107					viral genome replication	integral to plasma membrane	coreceptor activity	p.G107D(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGCCTACTGGGCATCTACACT	0.527000													16	394					0	0	0.539581	0	0
THOC2	57187	broad.mit.edu	37	X	122769970	122769970	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:122769970G>C	ENST00000245838.8	-	19	2009	c.1978C>G	c.(1978-1980)Ctt>Gtt	p.L660V	THOC2_ENST00000491737.1_Missense_Mutation_p.L545V|THOC2_ENST00000355725.4_Missense_Mutation_p.L660V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	660					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.L660V(1)|p.L581V(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TACTGAAGAAGACCAGCAAGA	0.333000													5	74					0	0	0.278610	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593003	96593003	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:96593003T>C	ENST00000456556.1	-	28	1982	c.1898A>G	c.(1897-1899)aAt>aGt	p.N633S						ankyrin repeat domain 36C									p.N633S(2)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TGTGGCTATATTTGAAACAGA	0.328000													38	78					0	0	0.870114	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607513	84607513	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:84607513C>T	ENST00000344803.2	+	4	2175	c.2128C>T	c.(2128-2130)Ctg>Ttg	p.L710L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.L710L(4)									CCATGAGTCTCTGTCATTGCT	0.483000													42	57					0	0	0.864702	0	0
CSMD3	114788	broad.mit.edu	37	8	113275890	113275890	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:113275890A>T	ENST00000297405.5	-	61	10084	c.9840T>A	c.(9838-9840)agT>agA	p.S3280R	CSMD3_ENST00000352409.3_Missense_Mutation_p.S3210R|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3111R|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3240R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3280	Sushi 25.					integral to membrane|plasma membrane		p.S3240R(2)|p.S3280R(2)		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						GTACTTCACCACTCCAGGTAC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	23					0	0	0.479597	0	0
GH1	2688	broad.mit.edu	37	17	61995377	61995377	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:61995377G>T	ENST00000323322.5	-	3	333	c.291_splice	c.e3+1	p.S97_splice	GH1_ENST00000458650.2_Splice_Site_p.S82_splice|GH1_ENST00000351388.4_Intron|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	97			S -> F (in IGHD1B; reduced ability to activate the JAK/STAT pathway).		glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	p.S97S(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						ATCCACTCACGGATTTCTGTT	0.572000													38	46					1.22674e-20	1.59735e-20	0.840704	1	0
C20orf194	25943	broad.mit.edu	37	20	3340199	3340199	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:3340199C>T	ENST00000252032.9	-	7	721	c.654G>A	c.(652-654)aaG>aaA	p.K218K		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	218								p.K218K(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TAGGATCCATCTTGCTGTAGA	0.373000													11	158					0	0	0.500413	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970637	45970637	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr21:45970637G>C	ENST00000391621.1	-	1	751	c.705C>G	c.(703-705)tgC>tgG	p.C235W	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	235						keratin filament		p.C235W(2)		large_intestine(1)|lung(4)|skin(1)	6						ACACGGGGCGGCAGAGGAGGG	0.672000													35	43					0	0	0.819951	0	0
ZEB1	6935	broad.mit.edu	37	10	31810791	31810791	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:31810791A>G	ENST00000446923.2	+	7	2871	c.2480A>G	c.(2479-2481)tAc>tGc	p.Y827C	ZEB1_ENST00000320985.10_Missense_Mutation_p.Y843C|ZEB1_ENST00000361642.5_Missense_Mutation_p.Y844C|ZEB1_ENST00000542815.3_Missense_Mutation_p.Y776C|ZEB1_ENST00000560721.2_Missense_Mutation_p.Y823C|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	843					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	p.Y843C(2)		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)				CAGGTGGCATACACCTACTCA	0.483000													76	71					0	0	0.870114	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110504206	110504206	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:110504206T>A	ENST00000378402.5	+	62	10323	c.10219T>A	c.(10219-10221)Tgg>Agg	p.W3407R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3407					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.W3409R(2)		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)			TTCAACTCTCTGGCATGCAGC	0.338000										HNSCC(38;0.096)			3	9					0	0	0.115264	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677973	25677973	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:25677973G>T	ENST00000382051.3	+	13	1725	c.1675G>T	c.(1675-1677)Ggg>Tgg	p.G559W	SLC34A2_ENST00000503434.1_Missense_Mutation_p.G558W|SLC34A2_ENST00000504570.1_Missense_Mutation_p.G558W	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	559					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.G559W(2)	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)				GGTTGGTGTCGGGGTTCCCGT	0.597000			T	ROS1	NSCLC								32	117					9.17885e-22	1.20905e-21	0.779181	1	0
WFDC11	259239	broad.mit.edu	37	20	44278014	44278014	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:44278014C>T	ENST00000356562.2	-	4	346	c.125G>A	c.(124-126)tGc>tAc	p.C42Y	WFDC11_ENST00000324384.3_Missense_Mutation_p.C42Y			Q8NEX6	WFD11_HUMAN	WAP four-disulfide core domain 11	42						extracellular region		p.C42Y(2)		endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				CTTTCCCCAGCATTCTTCAAG	0.393000													103	316					0	0	0.870114	0	0
ME2	4200	broad.mit.edu	37	18	48447064	48447064	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:48447064C>T	ENST00000321341.5	+	9	1150	c.878C>T	c.(877-879)gCa>gTa	p.A293V	ME2_ENST00000382927.3_Missense_Mutation_p.A293V	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	293					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	p.A293V(2)		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)	GGTCTTCTTGCAGCACAAAAA	0.348000													18	66					0	0	0.639603	0	0
CNTRL	11064	broad.mit.edu	37	9	123920102	123920102	+	Silent	SNP	A	A	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:123920102A>C	ENST00000373855.1	+	29	4841	c.4581A>C	c.(4579-4581)gcA>gcC	p.A1527A	CNTRL_ENST00000373850.1_Silent_p.A975A|CNTRL_ENST00000373847.1_Silent_p.A975A|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Silent_p.A1527A			Q7Z7A1	CNTRL_HUMAN	centriolin	1527					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.A1527A(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAATTGTAGCAGCAAAAGACT	0.408000													32	49					0	0	0.750413	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779094	97779094	+	Splice_Site	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:97779094T>C	ENST00000344386.3	+	7	821	c.657_splice	c.e7+1	p.N219_splice	ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Splice_Site_p.N219_splice|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	219								p.N219N(4)		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)		ATGATAGAAATGTAAGTATAT	0.358000													9	103					0	0	0.387290	0	0
TTLL2	83887	broad.mit.edu	37	6	167754837	167754837	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:167754837A>T	ENST00000239587.5	+	3	1537	c.1449A>T	c.(1447-1449)gcA>gcT	p.A483A		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	483					protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.A483A(2)		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)		CTGAAGCTGCACCTGCCTCCC	0.517000													36	180					0	0	0.804634	0	0
KIAA1033	23325	broad.mit.edu	37	12	105538144	105538144	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:105538144G>T	ENST00000332180.5	+	21	2177	c.2090G>T	c.(2089-2091)cGa>cTa	p.R697L		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	697					endosome transport	WASH complex		p.R697L(2)|p.R697Q(1)		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						CTGGATGACCGAAACCCTTTC	0.373000													12	55					1.3612e-06	1.49272e-06	0.479597	1	0
CXCR2P1	3580	broad.mit.edu	37	2	218925700	218925700	+	RNA	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:218925700A>T	ENST00000439871.1	-	0	680					NR_002712.1																						TGGCATGGACAATGGCCAGGT	0.537000													26	25					0	0	0.681144	0	0
TEX15	56154	broad.mit.edu	37	8	30703478	30703478	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:30703478G>C	ENST00000256246.2	-	1	3130	c.3056C>G	c.(3055-3057)aCt>aGt	p.T1019S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1019								p.T1019S(2)		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)		TCCTACTTTAGTTATAAGCTG	0.338000													31	173					0	0	0.779181	0	0
HIST1H2AH	85235	broad.mit.edu	37	6	27115128	27115128	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:27115128A>T	ENST00000377459.1	+	1	268	c.221A>T	c.(220-222)aAc>aTc	p.N74I		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	74					nucleosome assembly	nucleosome|nucleus	DNA binding	p.N74I(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GCCCGCGACAACAAGAAGACC	0.647000													44	182					0	0	0.870114	0	0
DKK2	27123	broad.mit.edu	37	4	107845748	107845748	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:107845748T>A	ENST00000285311.3	-	3	1188	c.483A>T	c.(481-483)ggA>ggT	p.G161G	DKK2_ENST00000510463.1_Silent_p.G115G|DKK2_ENST00000513208.1_Silent_p.G61G	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	161					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.G161G(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GATTCTGCCATCCCAAGTCAT	0.418000													65	169					0	0	0.870114	0	0
NF1	4763	broad.mit.edu	37	17	29657349	29657349	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:29657349G>A	ENST00000358273.4	+	39	6028	c.5645G>A	c.(5644-5646)tGt>tAt	p.C1882Y	NF1_ENST00000356175.3_Missense_Mutation_p.C1861Y|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1882					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.C1882Y(4)|p.?(3)|p.C1882F(1)	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)		GCCTTAACTTGTACCTTTAAT	0.353000			"""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)			26	34					0	0	0.760397	0	0
GP6	51206	broad.mit.edu	37	19	55543670	55543670	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:55543670C>G	ENST00000310373.3	-	3	189	c.162G>C	c.(160-162)gtG>gtC	p.V54V	CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000417454.1_Silent_p.V54V|GP6_ENST00000333884.2_Silent_p.V54V	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	54	Ig-like C2-type 1.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	p.V54V(1)		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)		GGTACAGGTCCACGCCCGGAG	0.652000													17	18					0	0	0.557998	0	0
AQP9	366	broad.mit.edu	37	15	58458996	58458996	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:58458996C>T	ENST00000219919.4	+	2	606	c.236C>T	c.(235-237)tCt>tTt	p.S79F	AQP9_ENST00000558772.1_Missense_Mutation_p.S14F|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.S79F	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	79					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.S79F(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GGCGGTGTCTCTGGTAAGCAG	0.448000													26	316					0	0	0.681144	0	0
FOXR1	283150	broad.mit.edu	37	11	118851198	118851198	+	Splice_Site	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:118851198A>G	ENST00000317011.3	+	5	836		c.e5-1			NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1						embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific 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	p.?(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCCTGTCCATAGAAAGCACTT	0.537000													46	61					0	0	0.870114	0	0
MYH11	4629	broad.mit.edu	37	16	15917231	15917231	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:15917231T>C	ENST00000338282.6	-	3	489	c.383A>G	c.(382-384)tAt>tGt	p.Y128C	MYH11_ENST00000396324.3_Missense_Mutation_p.Y128C|MYH11_ENST00000300036.5_Missense_Mutation_p.Y128C|MYH11_ENST00000576790.1_Missense_Mutation_p.Y128C|MYH11_ENST00000452625.2_Missense_Mutation_p.Y128C	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	128	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	p.Y128C(4)		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						CAGGTGTTTATAGGGGTTGAC	0.557000			T	CBFB	AML								65	192					0	0	0.870114	0	0
DCDC1	341019	broad.mit.edu	37	11	31312214	31312214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:31312214C>A	ENST00000597505.1	-	5	939	c.940G>T	c.(940-942)Gga>Tga	p.G314*	DCDC1_ENST00000452803.1_Nonsense_Mutation_p.G314*			P59894	DCDC1_HUMAN	doublecortin domain containing 1	314					intracellular signal transduction			p.G314L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTTTCTTTTCCCACTGTAATC	0.328000													13	44					2.61681e-11	3.09384e-11	0.457914	1	0
LGALS2	3957	broad.mit.edu	37	22	37966600	37966600	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:37966600G>T	ENST00000215886.4	-	3	406	c.232C>A	c.(232-234)Cca>Aca	p.P78T		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	78	Galectin.							p.P78T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					TCTGACCCTGGGCTGAAGCAC	0.582000													28	94					2.48696e-23	3.29498e-23	0.779181	1	0
ASAH2	56624	broad.mit.edu	37	10	52005145	52005145	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:52005145C>A	ENST00000395526.3	-	2	196	c.197G>T	c.(196-198)cGc>cTc	p.R66L	ASAH2_ENST00000447815.1_Missense_Mutation_p.R66L|ASAH2_ENST00000329428.6_Missense_Mutation_p.R47L	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	66					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	p.R47L(2)|p.R66L(2)		large_intestine(1)|lung(9)|urinary_tract(1)	11						GGCTGTGGAGCGTTGGGCAGC	0.507000													8	33					5.18039e-06	5.62655e-06	0.278610	1	0
ATG2B	55102	broad.mit.edu	37	14	96777950	96777950	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:96777950C>A	ENST00000359933.4	-	27	4812	c.3919G>T	c.(3919-3921)Gtt>Ttt	p.V1307F		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1307								p.V1307F(2)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATCACACGAACATAATCTAAA	0.313000													8	22					0.000978159	0.00101854	0.387290	1	0
MAGEC3	139081	broad.mit.edu	37	X	140984475	140984475	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:140984475G>T	ENST00000544766.1	+	5	564	c.37G>T	c.(37-39)Gag>Tag	p.E13*	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000409007.1_Nonsense_Mutation_p.E13*|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000536088.1_Nonsense_Mutation_p.E13*|MAGEC3_ENST00000483584.1_3'UTR	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0								p.E13*(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAGCTTTGAGGAAGACTT	0.542000													165	173					4.26038e-92	6.17302e-92	0.870114	1	0
IL21R	50615	broad.mit.edu	37	16	27456538	27456538	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:27456538C>G	ENST00000337929.3	+	7	1199	c.726C>G	c.(724-726)ctC>ctG	p.L242L	IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395754.4_Silent_p.L242L|IL21R_ENST00000564089.1_Silent_p.L242L|IL21R_ENST00000395755.1_Silent_p.L242L	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	242					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.L242L(2)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TGCTTCTCCTCCTGCTTGTCA	0.542000			T	BCL6	NHL								11	21					0	0	0.479597	0	0
OR7A17	26333	broad.mit.edu	37	19	14991871	14991871	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:14991871G>C	ENST00000327462.2	-	1	393	c.297C>G	c.(295-297)acC>acG	p.T99T		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T99T(3)		breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AGCACATCTGGGTGATGCAGC	0.468000													108	132					0	0	0.870114	0	0
SLC35F4	341880	broad.mit.edu	37	14	58031051	58031051	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:58031051G>T	ENST00000556826.1	-	8	1496	c.1260C>A	c.(1258-1260)cgC>cgA	p.R420R	SLC35F4_ENST00000554729.1_Silent_p.R297R|SLC35F4_ENST00000339762.6_Silent_p.R456R	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4									p.R456R(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGCAGCCAGGCGGACAACAT	0.448000													23	76					7.33532e-06	7.95438e-06	0.667858	1	0
OR4A15	81328	broad.mit.edu	37	11	55136184	55136184	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:55136184C>A	ENST00000314706.3	+	1	825	c.825C>A	c.(823-825)gtC>gtA	p.V275V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V275V(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TCACTGTGGTCATTTTATTCT	0.408000													112	313					1.51765e-31	2.07952e-31	0.870114	1	0
OBSCN	84033	broad.mit.edu	37	1	228509331	228509331	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:228509331G>T	ENST00000570156.2	+	66	17734	c.17660G>T	c.(17659-17661)cGc>cTc	p.R5887L	OBSCN_ENST00000366709.4_Missense_Mutation_p.R2049L|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4930L|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2564L|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4930L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4930					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	p.R4930L(2)|p.R5512L(2)|p.R5642L(2)		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)				GTGCGAGCCCGCTGGCTGAAG	0.642000													13	20					2.27111e-07	2.52304e-07	0.411799	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254960	30254960	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:30254960T>G	ENST00000361644.2	+	5	1656	c.919T>G	c.(919-921)Tat>Gat	p.Y307D	MAGEB3_ENST00000378986.1_Missense_Mutation_p.Y307D	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	307	MAGE.							p.Y307V(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CCAGTTCTGGTATGAAGAGGC	0.517000													11	21					0	0	0.387290	0	0
THEMIS	387357	broad.mit.edu	37	6	128134623	128134623	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:128134623T>A	ENST00000368250.1	-	5	1424	c.926A>T	c.(925-927)cAg>cTg	p.Q309L	THEMIS_ENST00000368248.2_Missense_Mutation_p.Q388L|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q388L|THEMIS_ENST00000537166.1_Missense_Mutation_p.Q353L			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	388	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.Q388L(2)		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						CACCAGAAACTGGTCCCCAAC	0.468000													78	78					0	0	0.870114	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736176	140736176	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:140736176C>T	ENST00000571252.1	+	1	1409	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGCCTCCATCTTATCT	0.507000													23	84					0	0	0.624587	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564340	176564340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:176564340G>T	ENST00000367662.3	+	3	2764	c.1600G>T	c.(1600-1602)Gat>Tat	p.D534Y	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D534Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	534	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.D534Y(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAACATCTGTGATGATGAGGG	0.527000													65	103					6.1719e-39	8.61284e-39	0.870114	1	0
CLSTN2	64084	broad.mit.edu	37	3	140277665	140277665	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:140277665C>T	ENST00000458420.3	+	12	2197	c.2007C>T	c.(2005-2007)gcC>gcT	p.A669A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	669					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.A669A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCACCTTCGCCAAAACCGAAG	0.532000										HNSCC(16;0.037)			13	35					0	0	0.457914	0	0
EYS	346007	broad.mit.edu	37	6	66204948	66204948	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:66204948G>T	ENST00000503581.1	-	4	893	c.356C>A	c.(355-357)aCa>aAa	p.T119K	EYS_ENST00000370618.3_Missense_Mutation_p.T119K|EYS_ENST00000370621.3_Missense_Mutation_p.T119K|EYS_ENST00000370616.2_Missense_Mutation_p.T119K|EYS_ENST00000393380.2_Missense_Mutation_p.T119K|EYS_ENST00000342421.5_Missense_Mutation_p.T119K	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	119					response to stimulus|visual perception	extracellular region	calcium ion binding	p.T119K(2)		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						ATCTTCCGTTGTGGTATTTTG	0.358000													28	67					5.60225e-13	6.77643e-13	0.740014	1	0
TCF12	6938	broad.mit.edu	37	15	57525012	57525012	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:57525012G>A	ENST00000267811.5	+	11	1232	c.928G>A	c.(928-930)Gcc>Acc	p.A310T	TCF12_ENST00000333725.5_Missense_Mutation_p.A310T|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000438423.2_Missense_Mutation_p.A310T|TCF12_ENST00000452095.2_Missense_Mutation_p.A306T|TCF12_ENST00000557843.1_Missense_Mutation_p.A310T|TCF12_ENST00000537840.1_Missense_Mutation_p.A74T|TCF12_ENST00000343827.3_Missense_Mutation_p.A140T|TCF12_ENST00000543579.1_Missense_Mutation_p.A140T	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	310					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.A310T(4)|p.A306T(2)|p.A140T(2)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTACGTTGCTGCCTCACACAC	0.473000			T	TEC	extraskeletal myxoid chondrosarcoma								75	77					0	0	0.870114	0	0
DSPP	1834	broad.mit.edu	37	4	88534203	88534203	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:88534203G>T	ENST00000399271.1	+	4	985	c.865G>T	c.(865-867)Gat>Tat	p.D289Y	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.D289Y	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	289					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.D289Y(2)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TGGGAAAGAAGATGATCATGA	0.428000													29	81					5.8336e-16	7.27598e-16	0.779181	1	0
RYR3	6263	broad.mit.edu	37	15	33955875	33955875	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:33955875G>A	ENST00000389232.4	+	36	5626	c.5556G>A	c.(5554-5556)ctG>ctA	p.L1852L	RYR3_ENST00000415757.3_Silent_p.L1852L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1852	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L1852L(2)		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)		TGCAGGCCCTGAACATGTCTG	0.567000													11	21					0	0	0.387290	0	0
PXDNL	137902	broad.mit.edu	37	8	52359614	52359614	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:52359614C>T	ENST00000356297.4	-	12	1575	c.1475G>A	c.(1474-1476)aGt>aAt	p.S492N	PXDNL_ENST00000543296.1_Missense_Mutation_p.S492N	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	492	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.S492N(2)		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)				CCCCAACGAACTGACTGCTTG	0.468000													80	373					0	0	0.870114	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104251168	104251168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:104251168G>A	ENST00000202556.9	-	3	523	c.241C>T	c.(241-243)Cga>Tga	p.R81*		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	81					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	p.R81*(2)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCCTCGTGTCGAAGGAAAAAT	0.393000													11	42					0	0	0.435327	0	0
STK32C	282974	broad.mit.edu	37	10	134059451	134059451	+	Missense_Mutation	SNP	C	C	A	rs142282211		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:134059451C>A	ENST00000368625.4	-	2	395	c.310G>T	c.(310-312)Gac>Tac	p.D104Y	STK32C_ENST00000368622.1_5'UTR			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	91	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.D104Y(2)|p.D91Y(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TGGAAGTGGTCGAAGTTCACT	0.637000													6	19					2.0095e-06	2.19658e-06	0.248553	1	0
DEFB112	245915	broad.mit.edu	37	6	50011359	50011359	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:50011359C>T	ENST00000322246.4	-	2	270	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	91					defense response to bacterium	extracellular region		p.D91N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TTATTTGGGTCCGTAGGGTCA	0.413000													18	91					0	0	0.592651	0	0
SLC4A7	9497	broad.mit.edu	37	3	27490147	27490147	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:27490147G>C	ENST00000295736.5	-	3	327	c.257C>G	c.(256-258)tCt>tGt	p.S86C	SLC4A7_ENST00000440156.1_Missense_Mutation_p.S95C|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S91C|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S95C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S91C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S91C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S91C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S95C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S95C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S86C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	86						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.S86C(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CTTACCATAAGAAGGAGATTC	0.353000													13	54					0	0	0.520397	0	0
OR4C3	256144	broad.mit.edu	37	11	48346726	48346726	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:48346726C>T	ENST00000319856.4	+	1	255	c.234C>T	c.(232-234)ccC>ccT	p.P78P		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P78P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCTCCAGCCCCACGCTGGCTT	0.453000													13	166					0	0	0.411799	0	0
RABGAP1	23637	broad.mit.edu	37	9	125782613	125782613	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:125782613A>T	ENST00000373647.4	+	13	1803	c.1669A>T	c.(1669-1671)Aag>Tag	p.K557*		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	557					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	p.K485*(2)|p.K557*(2)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGTGAGACCGAAGCAGTTGTC	0.403000													59	53					0	0	0.870114	0	0
CAPN11	11131	broad.mit.edu	37	6	44140984	44140984	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:44140984G>A	ENST00000398776.1	+	7	730	c.692G>A	c.(691-693)gGg>gAg	p.G231E	CAPN11_ENST00000542245.1_Missense_Mutation_p.G231E	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	231	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.G231E(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	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)			GCATTGTCAGGGGGCAGTACC	0.607000											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	108	212					0	0	0.870114	0	0
UBR1	197131	broad.mit.edu	37	15	43258422	43258422	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:43258422G>A	ENST00000290650.4	-	41	4598	c.4520C>T	c.(4519-4521)cCt>cTt	p.P1507L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1507					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	p.P1507L(1)		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)		GCGAAGATAAGGGGTGATGCC	0.433000													6	127					0	0	0.278610	0	0
C16orf70	80262	broad.mit.edu	37	16	67178769	67178769	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:67178769C>T	ENST00000219139.3	+	12	1183	c.995C>T	c.(994-996)gCc>gTc	p.A332V	C16orf70_ENST00000569600.1_Missense_Mutation_p.A332V	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	332								p.A332V(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ATCCCACTAGCCATAAAGAAA	0.483000													40	71					0	0	0.870114	0	0
PIGT	51604	broad.mit.edu	37	20	44047576	44047576	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:44047576A>T	ENST00000535404.1	+	3	464	c.86A>T	c.(85-87)cAg>cTg	p.Q29L	PIGT_ENST00000545755.1_Intron|PIGT_ENST00000279036.6_Silent_p.T150T|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000279035.9_Intron|PIGT_ENST00000372689.5_Silent_p.T150T|PIGT_ENST00000543458.2_Intron			Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	0					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	p.T150T(4)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCACCAACACAGTCACTCCCA	0.512000													100	147					0	0	0.870114	0	0
MICAL1	64780	broad.mit.edu	37	6	109765934	109765934	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:109765934G>T	ENST00000368952.4	-	24	3396	c.3106C>A	c.(3106-3108)Cgg>Agg	p.R1036R	MICAL1_ENST00000358807.3_Silent_p.R1017R|MICAL1_ENST00000358577.3_Silent_p.R931R			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1017					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	p.R1017R(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTACCTTCCCGGTTCATGTAG	0.522000													6	17					7.48243e-07	8.25856e-07	0.335167	1	0
CSMD2	114784	broad.mit.edu	37	1	34554714	34554714	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:34554714C>A	ENST00000373381.4	-	2	444	c.268G>T	c.(268-270)Gcc>Tcc	p.A90S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	50	CUB 1.					integral to membrane|plasma membrane	protein binding	p.A50S(2)		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)				GTGCAGTTGGCGTAATTGGGG	0.552000													39	100					5.20006e-24	6.93002e-24	0.859065	1	0
BASP1	10409	broad.mit.edu	37	5	17275998	17275998	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:17275998G>A	ENST00000322611.3	+	2	933	c.673G>A	c.(673-675)Gtg>Atg	p.V225M		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	225					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	p.V225M(2)		endometrium(1)|lung(8)	9						AACCGTAACCGTGAAAGAGTG	0.537000													12	30					0	0	0.479597	0	0
NRXN3	9369	broad.mit.edu	37	14	79434538	79434538	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:79434538G>T	ENST00000554719.1	+	11	2363	c.1872G>T	c.(1870-1872)ctG>ctT	p.L624L	NRXN3_ENST00000335750.5_Silent_p.L624L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	228					angiogenesis|cell adhesion	integral to membrane		p.L624L(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGCTGGTCTGGCCCAAGGCA	0.488000													46	55					2.27459e-33	3.13562e-33	0.870114	1	0
HEG1	57493	broad.mit.edu	37	3	124739860	124739860	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:124739860A>T	ENST00000311127.4	-	4	1095	c.1028T>A	c.(1027-1029)cTg>cAg	p.L343Q		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	343						extracellular region|integral to membrane	calcium ion binding	p.L343Q(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CAAAGATCGCAGCGTTCTCGG	0.532000													30	169					0	0	0.779181	0	0
MRPL17	63875	broad.mit.edu	37	11	6704014	6704014	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:6704014G>C	ENST00000288937.6	-	2	311	c.207C>G	c.(205-207)aaC>aaG	p.N69K		NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	69					translation	ribosome	protein domain specific binding|structural constituent of ribosome	p.N69K(2)		lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGCTCGTTCGTTAGTGTCTC	0.512000													15	103					0	0	0.654019	0	0
UBTF	7343	broad.mit.edu	37	17	42286812	42286812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:42286812G>A	ENST00000302904.4	-	17	2305	c.1813C>T	c.(1813-1815)Cag>Tag	p.Q605*	UBTF_ENST00000527034.1_Nonsense_Mutation_p.Q568*|UBTF_ENST00000529383.1_Nonsense_Mutation_p.Q605*|UBTF_ENST00000343638.5_Nonsense_Mutation_p.Q568*|UBTF_ENST00000526094.1_Nonsense_Mutation_p.Q568*|UBTF_ENST00000436088.1_Nonsense_Mutation_p.Q605*|UBTF_ENST00000533177.1_Nonsense_Mutation_p.Q568*|UBTF_ENST00000393606.3_Nonsense_Mutation_p.Q568*|CTB-175E5.7_ENST00000586560.1_RNA			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	605					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	p.Q605*(2)		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)		GAGATGCGCTGCCAGCGACTG	0.587000													18	47					0	0	0.608945	0	0
AJUBA	84962	broad.mit.edu	37	14	23445718	23445718	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:23445718A>T	ENST00000262713.2	-	4	1561	c.1186T>A	c.(1186-1188)Ttt>Att	p.F396I	AJUBA_ENST00000361265.4_Missense_Mutation_p.F396I|AJUBA_ENST00000397388.3_5'UTR|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	396	LIM zinc-binding 1.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	p.F396I(2)									GCCTCCTGAAACCCTGAAAAC	0.468000													141	116					0	0	0.870114	0	0
CANT1	124583	broad.mit.edu	37	17	76993153	76993153	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:76993153C>T	ENST00000302345.2	-	2	1046	c.552G>A	c.(550-552)acG>acA	p.T184T	CANT1_ENST00000591773.1_Silent_p.T184T|CANT1_ENST00000392446.5_Silent_p.T184T	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	184					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	p.T184T(1)	CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGACGACCCCCGTCCGGTCAT	0.587000			T	ETV4	prostate								15	97					0	0	0.500413	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098634	78098634	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:78098634G>A	ENST00000370801.3	-	5	881	c.406C>T	c.(406-408)Cct>Tct	p.P136S	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P136S(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GATTTTATAGGAGAATCTTCT	0.383000													59	167					0	0	0.870114	0	0
TIMD4	91937	broad.mit.edu	37	5	156381703	156381703	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:156381703C>G	ENST00000274532.2	-	2	179	c.123G>C	c.(121-123)ctG>ctC	p.L41L	TIMD4_ENST00000407087.3_Silent_p.L41L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	41	Ig-like V-type.					integral to membrane		p.L41L(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGATGAGTACAGACAGGGCA	0.527000													17	43					0	0	0.539581	0	0
CYFIP1	23191	broad.mit.edu	37	15	23000107	23000107	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:23000107G>C	ENST00000313077.7	+	30	3586	c.3461G>C	c.(3460-3462)gGt>gCt	p.G1154A	CYFIP1_ENST00000435939.2_Missense_Mutation_p.G723A|CYFIP1_ENST00000560848.1_Missense_Mutation_p.G1154A	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	1154					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	p.G1154A(2)|p.G723A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CAGTGCTTTGGTGATGGGCTA	0.483000													31	98					0	0	0.750413	0	0
CDC5L	988	broad.mit.edu	37	6	44371547	44371547	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:44371547C>A	ENST00000371477.3	+	6	840	c.539_splice	c.e6-1	p.R181_splice		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	181					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	p.R181S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTTTTCAGACGTCTTGCTGC	0.353000													16	40					4.96729e-08	5.59128e-08	0.575678	1	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928496	32928496	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:32928496A>G	ENST00000361627.3	+	12	2244	c.1522A>G	c.(1522-1524)Act>Gct	p.T508A	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.T319A|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.T319A	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	508					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.T508A(2)		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)		AACCTTACTAACTCCAGAGCG	0.358000													8	42					0	0	0.387290	0	0
LIN28A	79727	broad.mit.edu	37	1	26738039	26738039	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:26738039C>T	ENST00000326279.6	+	2	308	c.194C>T	c.(193-195)gCg>gTg	p.A65V	LIN28A_ENST00000254231.4_Missense_Mutation_p.A65V	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	65	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding	p.A65V(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GCCGGGGTCGCGCTCGACCCC	0.647000													19	44					0	0	0.639603	0	0
NRD1	4898	broad.mit.edu	37	1	52301803	52301803	+	Splice_Site	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:52301803T>C	ENST00000354831.7	-	5	1105	c.916_splice	c.e5+1	p.M306_splice	NRD1_ENST00000544028.1_Splice_Site_p.M106_splice|NRD1_ENST00000539524.1_Splice_Site_p.M174_splice|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Splice_Site_p.M238_splice	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	237					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	p.M306V(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AAATTCTTACTGTGCTCCAAA	0.423000													21	46					0	0	0.014323	0	0
EPHB1	2047	broad.mit.edu	37	3	134873067	134873067	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:134873067G>A	ENST00000398015.3	+	6	1741	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	EPHB1_ENST00000493838.1_Silent_p.P18P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	457	Fibronectin type-III 2.					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						GGCCACAGCCGGAGCAGCCCA	0.557000													4	220					0	0	0.009096	0	0
WFS1	7466	broad.mit.edu	37	4	6303099	6303099	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:6303099G>T	ENST00000226760.1	+	8	1747	c.1577G>T	c.(1576-1578)gGc>gTc	p.G526V	WFS1_ENST00000503569.1_Missense_Mutation_p.G526V	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	526					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	p.G526F(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AATTTCAAGGGCACCTACTGC	0.607000													25	155					1.10923e-09	1.25536e-09	0.016522	1	0
SH3BP5L	80851	broad.mit.edu	37	1	249107312	249107312	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:249107312C>A	ENST00000366472.5	-	6	1816	c.587G>T	c.(586-588)cGa>cTa	p.R196L	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R164L	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	196								p.R196L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCGAGTCACTCGCTGGTGCTC	0.637000													5	6					2.47511e-08	2.73965e-08	0.008361	1	0
MTF1	4520	broad.mit.edu	37	1	38280877	38280877	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:38280877A>T	ENST00000373036.4	-	11	2333	c.2193T>A	c.(2191-2193)aaT>aaA	p.N731K		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	731						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGGGAATCAGATTGGACGGGG	0.547000													6	158					0	0	0.021553	0	0
SPTLC1	10558	broad.mit.edu	37	9	94794786	94794786	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:94794786C>G	ENST00000262554.2	-	15	1388	c.1383G>C	c.(1381-1383)gcG>gcC	p.A461A		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	461						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.A461A(2)		breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGATGGTGGACGCAGCTCTCT	0.567000													11	111					0	0	0.008291	0	0
WIPF3	644150	broad.mit.edu	37	7	29928925	29928925	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:29928925A>T	ENST00000409290.1	+	6	1253	c.1253A>T	c.(1252-1254)gAc>gTc	p.D418V	WIPF3_ENST00000409123.1_Missense_Mutation_p.D418V|WIPF3_ENST00000242140.5_Missense_Mutation_p.D418V	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	418								p.D418V(2)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						TGTGCAGATGACTTCGAGTCT	0.443000													11	42					0	0	0.010729	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26431814	26431814	+	RNA	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:26431814C>A	ENST00000466808.2	+	0	1762																		p.P578T(2)									ACTAGTTGTTCCACAGCTCCC	0.483000													86	172					3.27475e-32	4.46879e-32	0.014410	1	0
CYP3A4	1576	broad.mit.edu	37	7	99358457	99358457	+	Silent	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:99358457A>C	ENST00000354593.2	-	7	1054	c.951T>G	c.(949-951)ccT>ccG	p.P317P	CYP3A4_ENST00000336411.2_Silent_p.P467P			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	467					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	p.P467P(1)		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)	TTTCTTTACAAGGTTTGAAGG	0.338000													69	95					0	0	0.014410	0	0
AFTPH	54812	broad.mit.edu	37	2	64808353	64808353	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:64808353G>C	ENST00000422803.1	+	8	2799	c.2485G>C	c.(2485-2487)Gat>Cat	p.D829H	AFTPH_ENST00000409933.1_Missense_Mutation_p.D829H|AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000238856.4_Intron|AFTPH_ENST00000409183.1_Missense_Mutation_p.D460H|AFTPH_ENST00000238855.7_Missense_Mutation_p.D829H			Q6ULP2	AFTIN_HUMAN	aftiphilin	829	Clathrin-binding (Potential).				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	p.D829H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TCTGAACCTTGATTTCTTTGG	0.478000													3	30					0	0	0.004672	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													6	134					0	0	0.001984	0	0
PIK3R5	23533	broad.mit.edu	37	17	8784284	8784284	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:8784284G>A	ENST00000447110.1	-	18	2557	c.2433C>T	c.(2431-2433)aaC>aaT	p.N811N	PIK3R5_ENST00000584803.1_Silent_p.N810N|PIK3R5_ENST00000581552.1_Silent_p.N811N	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	811					platelet activation	cytosol|membrane|nucleus		p.N811N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGGGGCAGCTGTTGGAGCCGA	0.562000													37	83					0	0	0.011902	0	0
HK1	3098	broad.mit.edu	37	10	71075716	71075716	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:71075716C>T	ENST00000298649.3	+	1	107	c.6C>T	c.(4-6)gaC>gaT	p.D2D	HK1_ENST00000360289.2_Intron|HK1_ENST00000404387.2_Intron|HK1_ENST00000448642.2_Intron	NM_033496.2	NP_277031.1	P19367	HXK1_HUMAN	hexokinase 1	0	Hydrophobic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.D2D(2)		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						TCCAGATGGACTGTGAGCACA	0.562000													30	176					0	0	0.013726	0	0
COL2A1	1280	broad.mit.edu	37	12	48376677	48376677	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:48376677T>C	ENST00000380518.3	-	33	2311	c.2147A>G	c.(2146-2148)cAg>cGg	p.Q716R	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.Q647R	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	716	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.Q716R(2)|p.Q647R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACGGGGACCCTGGAGGCCCTG	0.627000													67	97					0	0	0.014410	0	0
PTPRD	5789	broad.mit.edu	37	9	8486043	8486043	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:8486043A>T	ENST00000381196.4	-	25	3317	c.2774T>A	c.(2773-2775)cTt>cAt	p.L925H	PTPRD_ENST00000356435.5_Missense_Mutation_p.L925H|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.L912H|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.L925H|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.L903H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	925	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L925H(2)		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)		TTCTGAGTGAAGGTTTTGAGG	0.478000										TSP Lung(15;0.13)			23	68					0	0	0.016522	0	0
PRELP	5549	broad.mit.edu	37	1	203452913	203452913	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:203452913G>T	ENST00000343110.2	+	2	728	c.601G>T	c.(601-603)Gat>Tat	p.D201Y		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	201	Poly-Leu.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.D201Y(3)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTGCTCCTGGATCTCCAGCA	0.607000													31	313					1.30897e-18	1.65206e-18	0.009535	1	0
MYH7	4625	broad.mit.edu	37	14	23884664	23884664	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:23884664G>C	ENST00000355349.3	-	36	5371	c.5209C>G	c.(5209-5211)Ctc>Gtc	p.L1737V	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1737					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1737V(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCAGTCTGGAGCTGGGACAGG	0.562000													5	168					0	0	0.014758	0	0
EDN2	1907	broad.mit.edu	37	1	41948217	41948217	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:41948217C>T	ENST00000372587.4	-	3	333	c.264G>A	c.(262-264)cgG>cgA	p.R88R	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	88					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity	p.R88R(2)		endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGAGCGGCGCCGGCGTCTTG	0.662000													13	22					0	0	0.028581	0	0
FEZ1	9638	broad.mit.edu	37	11	125325834	125325834	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:125325834T>A	ENST00000278919.3	-	6	1070	c.836A>T	c.(835-837)aAc>aTc	p.N279I	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	279					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CTTCTGCTTGTTCTGAACCTC	0.542000													9	265					0	0	0.006214	0	0
ZIC4	84107	broad.mit.edu	37	3	147108987	147108987	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:147108987G>T	ENST00000383075.3	-	4	1247	c.735C>A	c.(733-735)ttC>ttA	p.F245L	ZIC4_ENST00000473123.1_Missense_Mutation_p.F245L|ZIC4_ENST00000525172.2_Missense_Mutation_p.F295L|ZIC4_ENST00000491672.1_Missense_Mutation_p.F39L|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.F283L|ZIC4_ENST00000484399.1_Missense_Mutation_p.F245L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	245						nucleus	DNA binding|zinc ion binding	p.F245L(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGCTGTTGGCGAAGCGCCGCT	0.612000													23	34					1.33986e-20	1.72268e-20	0.024334	1	0
IL1R1	3554	broad.mit.edu	37	2	102785058	102785058	+	Splice_Site	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:102785058A>C	ENST00000410023.1	+	7	974	c.655_splice	c.e7-1	p.E219_splice	IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_Splice_Site_p.E219_splice|IL1R1_ENST00000233946.3_Splice_Site_p.E219_splice|IL1R1_ENST00000409329.1_Splice_Site_p.E219_splice|IL1R1_ENST00000409288.1_Splice_Site_p.E219_splice|IL1R1_ENST00000409929.1_Splice_Site_p.E219_splice			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	219					innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TTTCTTTCAGAGGAAAACAAA	0.433000													4	231					0	0	0.014758	0	0
PCLO	27445	broad.mit.edu	37	7	82544499	82544499	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:82544499C>G	ENST00000423517.2	-	7	13140	c.12803G>C	c.(12802-12804)gGa>gCa	p.G4268A	PCLO_ENST00000333891.8_Missense_Mutation_p.G4268A|PCLO_ENST00000437081.1_Missense_Mutation_p.G988A	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4199	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G4268A(4)		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						TATGGTATTTCCTAATGTGCC	0.468000													6	24					0	0	0.021553	0	0
MYO1F	4542	broad.mit.edu	37	19	8591385	8591385	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:8591385C>T	ENST00000338257.8	-	24	2989	c.2722G>A	c.(2722-2724)Ggt>Agt	p.G908S		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	908						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.G908S(1)		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						AGGGTCCGACCGCCAACCTTG	0.677000													2	2					0	0	0.004672	0	0
CCDC67	159989	broad.mit.edu	37	11	93118676	93118676	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:93118676G>C	ENST00000298050.3	+	8	1002	c.902G>C	c.(901-903)gGa>gCa	p.G301A	CCDC67_ENST00000525646.1_Missense_Mutation_p.G43A	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	301								p.G293A(2)		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)				TTAAAAATAGGAGAGTGCCAA	0.323000													12	36					0	0	0.010729	0	0
XIRP2	129446	broad.mit.edu	37	2	168100642	168100642	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:168100642T>C	ENST00000409195.1	+	9	2829	c.2740T>C	c.(2740-2742)Tgg>Cgg	p.W914R	XIRP2_ENST00000409273.1_Missense_Mutation_p.W692R|XIRP2_ENST00000295237.9_Missense_Mutation_p.W914R|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	739					actin cytoskeleton organization	cell junction	actin binding	p.W914R(2)		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						GCATCAAAAATGGATTTTTGA	0.368000													26	75					0	0	0.021523	0	0
ALK	238	broad.mit.edu	37	2	29519878	29519878	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:29519878A>G	ENST00000389048.3	-	9	2599	c.1693T>C	c.(1693-1695)Tcc>Ccc	p.S565P	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	565	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.S565P(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGCACCAAGGACACGTTTCCC	0.547000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				16	117					0	0	0.004990	0	0
BHMT	635	broad.mit.edu	37	5	78426781	78426781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:78426781C>A	ENST00000274353.5	+	8	1170	c.1063C>A	c.(1063-1065)Ctt>Att	p.L355I	BHMT_ENST00000524080.1_Missense_Mutation_p.L202I|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	355					protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.L355I(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CTGGGAGAATCTTCGGATAGC	0.502000													110	127					1.44639e-49	2.05926e-49	0.014410	1	0
WDR16	146845	broad.mit.edu	37	17	9532031	9532031	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:9532031C>G	ENST00000352665.5	+	9	1137	c.1068C>G	c.(1066-1068)atC>atG	p.I356M	WDR16_ENST00000299764.5_Missense_Mutation_p.I366M|WDR16_ENST00000396219.3_Missense_Mutation_p.I288M	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	356						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.I356M(1)		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						AGAAGGATATCAGGGTGTGGC	0.517000													5	87					0	0	0.014758	0	0
PIWIL4	143689	broad.mit.edu	37	11	94322291	94322291	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:94322291A>G	ENST00000299001.6	+	8	1130	c.919A>G	c.(919-921)Aat>Gat	p.N307D	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	307	PAZ.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	p.N307D(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGGCAGATACAATAACAGAAC	0.378000													19	76					0	0	0.006122	0	0
HOXB1	3211	broad.mit.edu	37	17	46607116	46607116	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:46607116C>A	ENST00000239174.6	-	2	791	c.699G>T	c.(697-699)agG>agT	p.R233S	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	233						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.R233S(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAATCTCCACCCTCCGGGCCC	0.567000													49	299					6.03219e-31	8.15803e-31	0.014410	1	0
COL6A6	131873	broad.mit.edu	37	3	130287011	130287011	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:130287011G>C	ENST00000358511.6	+	5	1995	c.1964G>C	c.(1963-1965)gGa>gCa	p.G655A	COL6A6_ENST00000453409.2_Missense_Mutation_p.G655A	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	655	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen		p.G655A(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCTCAGATTGGACCAGATCGG	0.418000													50	201					0	0	0.014410	0	0
CLTCL1	8218	broad.mit.edu	37	22	19178854	19178854	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:19178854G>A	ENST00000263200.10	-	27	4357	c.4285C>T	c.(4285-4287)Cgg>Tgg	p.R1429W	CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1429W|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1429W|CLTCL1_ENST00000442042.2_5'UTR	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1429	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TGGTCCAGCCGGGGTGAAAGC	0.493000			T	?	ALCL								7	176					0	0	0.001984	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059650	11059650	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:11059650T>A	ENST00000287766.4	+	4	781	c.360T>A	c.(358-360)ccT>ccA	p.P120P	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	120					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P120P(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	AGCTGGCTCCTATGTTCAAGG	0.612000													46	226					0	0	0.014410	0	0
OR7A10	390892	broad.mit.edu	37	19	14952191	14952191	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:14952191G>C	ENST00000248058.1	-	1	498	c.499C>G	c.(499-501)Ccc>Gcc	p.P167A		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167A(2)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GTACAAAAGGGCAGTGGCAAC	0.428000													37	54					0	0	0.017118	0	0
FLG	2312	broad.mit.edu	37	1	152285774	152285774	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:152285774A>G	ENST00000368799.1	-	3	1623	c.1588T>C	c.(1588-1590)Tcc>Ccc	p.S530P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	530	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)			TCGTGGTGGGATCCCTGCCTT	0.602000									Ichthyosis				19	946					0	0	0.021523	0	0
FRMPD3	84443	broad.mit.edu	37	X	106843773	106843773	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:106843773G>T	ENST00000276185.4	+	16	2603	c.2603G>T	c.(2602-2604)cGc>cTc	p.R868L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	868						cytoskeleton		p.R917L(2)|p.R868L(2)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TCTCTTGGGCGCCCGGATCCC	0.652000													20	20					1.87028e-06	2.00558e-06	0.012319	1	0
LAMC2	3918	broad.mit.edu	37	1	183189974	183189974	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:183189974A>T	ENST00000264144.4	+	5	583	c.518A>T	c.(517-519)tAc>tTc	p.Y173F	LAMC2_ENST00000493293.1_Missense_Mutation_p.Y173F	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	173	Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.Y173F(2)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CGATCAGGTTACTATAATCTG	0.443000													47	81					0	0	0.014410	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3672716	3672716	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:3672716C>A	ENST00000344754.4	-	16	4163	c.4164G>T	c.(4162-4164)acG>acT	p.T1388T	SIGLEC1_ENST00000202578.4_Silent_p.T1388T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1388	Ig-like C2-type 14.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.T1388T(1)		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						CCCCGCTGCTCGTGGCCAGCA	0.617000													5	35					0.000602214	0.000621111	0.014758	1	0
SDK2	54549	broad.mit.edu	37	17	71394318	71394318	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:71394318G>T	ENST00000392650.3	-	24	3210	c.3210C>A	c.(3208-3210)cgC>cgA	p.R1070R	SDK2_ENST00000388726.3_Silent_p.R1070R	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1070	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.R1070R(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCTGGCGCATGCGGAAGCTGG	0.627000													10	76					3.07112e-06	3.27009e-06	0.010729	1	0
DPEP2	64174	broad.mit.edu	37	16	68026508	68026508	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:68026508C>A	ENST00000412757.2	-	4	960	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	DPEP2_ENST00000572888.1_Missense_Mutation_p.V99F|DPEP2_ENST00000393847.1_Missense_Mutation_p.V99F			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	99					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.V99F(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TTCTGGTAAACCTGCCTTAGG	0.582000													41	130					1.48734e-19	1.89937e-19	0.013114	1	0
SH3BP4	23677	broad.mit.edu	37	2	235951264	235951264	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:235951264C>T	ENST00000409212.1	+	4	2358	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	SH3BP4_ENST00000392011.2_Silent_p.I617I|SH3BP4_ENST00000344528.4_Silent_p.I617I			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	617					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.I617M(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AAAGTGCCATCAAGCCTTCCG	0.547000													8	93					0	0	0.003080	0	0
LIG1	3978	broad.mit.edu	37	19	48620931	48620931	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:48620931G>A	ENST00000263274.7	-	26	2966	c.2547C>T	c.(2545-2547)ctC>ctT	p.L849L	LIG1_ENST00000427526.2_Silent_p.L818L|LIG1_ENST00000536218.1_Silent_p.L781L	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	849					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|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	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.L849L(2)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GAGAGAGGGAGAGGTCAGCGC	0.662000								Nucleotide excision repair (NER)					9	22					0	0	0.004482	0	0
DNAH1	25981	broad.mit.edu	37	3	52416404	52416404	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:52416404T>A	ENST00000420323.2	+	50	8135	c.7874T>A	c.(7873-7875)gTg>gAg	p.V2625E		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2625	AAA 4 (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)		CGAGATGATGTGAAGAAGGTC	0.572000													4	171					0	0	0.009096	0	0
SERBP1	26135	broad.mit.edu	37	1	67878931	67878931	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:67878931G>C	ENST00000370994.4	-	8	1237	c.1123C>G	c.(1123-1125)Cct>Gct	p.P375A	SERBP1_ENST00000361219.6_Missense_Mutation_p.P381A|SERBP1_ENST00000370995.2_Missense_Mutation_p.P396A|SERBP1_ENST00000370990.5_Missense_Mutation_p.P390A	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	396					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						TCCACATCAGGAGCAGAAGCA	0.418000													5	47					0	0	0.001984	0	0
TEP1	7011	broad.mit.edu	37	14	20859894	20859894	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:20859894C>G	ENST00000262715.5	-	13	2001	c.1961G>C	c.(1960-1962)aGg>aCg	p.R654T	TEP1_ENST00000556935.1_Missense_Mutation_p.R546T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	654	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.R654T(2)		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)		CTGTCGGTACCTGTTCAGCAT	0.542000													45	198					0	0	0.013114	0	0
C15orf26	161502	broad.mit.edu	37	15	81428997	81428997	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:81428997G>A	ENST00000286732.4	+	3	383	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	100								p.Q100Q(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						ATGAAATTCAGTCCCATCTGA	0.468000													26	110					0	0	0.027356	0	0
MACF1	23499	broad.mit.edu	37	1	39765882	39765882	+	Splice_Site	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:39765882G>C	ENST00000564288.1	+	22	3259	c.2481_splice	c.e22-1	p.D828_splice	MACF1_ENST00000567887.1_Splice_Site_p.D865_splice|MACF1_ENST00000317713.7_Splice_Site_p.D833_splice|MACF1_ENST00000372915.3_Splice_Site_p.D833_splice|MACF1_ENST00000361689.2_Splice_Site_p.D833_splice|MACF1_ENST00000539005.1_Splice_Site_p.D833_splice|MACF1_ENST00000545844.1_Splice_Site_p.D833_splice			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	833					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	p.D833H(2)		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)			CATTTTGTAGGATGAAAAGGA	0.418000													16	181					0	0	0.006122	0	0
CCDC170	80129	broad.mit.edu	37	6	151894422	151894422	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:151894422C>A	ENST00000367290.5	+	6	977	c.888C>A	c.(886-888)agC>agA	p.S296R	CCDC170_ENST00000239374.7_Missense_Mutation_p.S296R			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	296								p.S296R(2)									AGGAAGTGAGCCTCCTGAAGA	0.473000													17	47					9.16793e-09	1.02529e-08	0.004990	1	0
FAM19A5	25817	broad.mit.edu	37	22	49042450	49042450	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:49042450C>A	ENST00000358295.5	+	2	308	c.133C>A	c.(133-135)Cgg>Agg	p.R45R	FAM19A5_ENST00000402357.1_Silent_p.R52R|FAM19A5_ENST00000473898.1_Intron	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	52						extracellular region|integral to membrane		p.R52R(1)|p.R45R(1)		large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GACCTTGGACCGGGACAGCAG	0.677000													6	43					0.0215528	0.0219004	0.021553	1	0
MAEL	84944	broad.mit.edu	37	1	166973415	166973415	+	Splice_Site	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:166973415A>G	ENST00000367872.4	+	6	767		c.e6-1		MAEL_ENST00000491055.1_Splice_Site|MAEL_ENST00000367870.2_Splice_Site	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer						cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	p.?(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TATTTCCCTCAGGTGATTCTA	0.378000													9	177					0	0	0.010729	0	0
MAS1	4142	broad.mit.edu	37	6	160328002	160328002	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:160328002C>G	ENST00000252660.4	+	1	29	c.15C>G	c.(13-15)aaC>aaG	p.N5K		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	5					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	p.N5K(1)		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)		ATGGGTCAAACGTGACATCAT	0.458000													5	135					0	0	0.014758	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157686	65157686	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:65157686G>T	ENST00000323544.4	+	6	1200	c.1072G>T	c.(1072-1074)Gct>Tct	p.A358S	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	358	Pro-rich.							p.A358S(2)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCCTCTCAGGCTGAGGGCAC	0.617000													31	76					9.78306e-22	1.26644e-21	0.009535	1	0
DNAH7	56171	broad.mit.edu	37	2	196620908	196620908	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:196620908T>C	ENST00000312428.6	-	62	11635	c.11535A>G	c.(11533-11535)aaA>aaG	p.K3845K	DNAH7_ENST00000409063.1_Silent_p.K328K	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3845					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						TGCCAAGTGGTTTAAGGCTTG	0.393000													4	130					0	0	0.009096	0	0
MMS22L	253714	broad.mit.edu	37	6	97597755	97597755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:97597755C>T	ENST00000275053.4	-	24	3889	c.3624G>A	c.(3622-3624)tgG>tgA	p.W1208*	MMS22L_ENST00000369251.2_Nonsense_Mutation_p.W1168*	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1208					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	p.W1208*(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGCCAAGGCCCCATTTCTGCT	0.363000													14	57					0	0	0.020292	0	0
GBP3	2635	broad.mit.edu	37	1	89481019	89481019	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:89481019T>G	ENST00000370481.4	-	3	489	c.269A>C	c.(268-270)gAa>gCa	p.E90A	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	90						integral to membrane	GTP binding|GTPase activity	p.E90A(2)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TAAGGTGTGTTCTGGCTTTTT	0.458000													33	245					0	0	0.010818	0	0
SPINK7	84651	broad.mit.edu	37	5	147693664	147693664	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:147693664T>A	ENST00000523535.1	+	1	28	c.11T>A	c.(10-12)gTg>gAg	p.V4E	RP11-373N22.3_ENST00000501695.3_RNA|SPINK7_ENST00000274565.4_Splice_Site_p.V30_splice|SPINK7_ENST00000514394.1_3'UTR			P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)	30						extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.V30E(2)		large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACACAGGTGGACTGCAGC	0.468000													113	116					0	0	0.014410	0	0
FGD4	121512	broad.mit.edu	37	12	32735077	32735077	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:32735077T>C	ENST00000427716.2	+	4	700	c.276T>C	c.(274-276)ggT>ggC	p.G92G	FGD4_ENST00000525053.1_Silent_p.G204G|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000531134.1_Silent_p.G177G|FGD4_ENST00000534526.2_Silent_p.G229G|FGD4_ENST00000472289.1_Silent_p.G92G|FGD4_ENST00000546442.1_5'UTR	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	92	Actin filament-binding (By similarity).				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|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.G92G(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGGCCAACGGTGTAATGGCAG	0.488000													13	541					0	0	0.024245	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123802	26123802	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:26123802C>G	ENST00000314332.5	-	1	336	c.331G>C	c.(331-333)Gcc>Ccc	p.A111P	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.A111P			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	111					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.A111P(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						TCCGACACGGCGTGCTTGGCC	0.587000													14	170					0	0	0.016723	0	0
CBLB	868	broad.mit.edu	37	3	105378032	105378032	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:105378032G>A	ENST00000264122.4	-	19	3052	c.2731C>T	c.(2731-2733)Cgc>Tgc	p.R911C	CBLB_ENST00000394027.3_Missense_Mutation_p.R889C|CBLB_ENST00000407712.1_Missense_Mutation_p.R126C	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	911	Interaction with SH3KBP1.|Pro-rich.			R -> C (in Ref. 7; CAH56175).	cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	p.R911C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GCAGTCCTGCGCGGTCGTGGT	0.453000			Mis S		AML								8	106					0	0	0.004482	0	0
BTC	685	broad.mit.edu	37	4	75681104	75681104	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:75681104G>A	ENST00000395743.3	-	3	606	c.246C>T	c.(244-246)tgC>tgT	p.C82C		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	82	EGF-like.				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			CCACGAAGCGGCATCTCCCTT	0.542000													4	234					0	0	0.009096	0	0
NDP	4693	broad.mit.edu	37	X	43817789	43817789	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:43817789C>T	ENST00000378062.5	-	2	510	c.103G>A	c.(103-105)Gac>Aac	p.D35N	NDP_ENST00000470584.1_Intron|NDP-AS1_ENST00000435093.1_RNA	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	35					canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity			kidney(1)|lung(2)	3						CGTCGAGGGTCCGAGTCCATT	0.473000													11	591					0	0	0.008291	0	0
LTBP2	4053	broad.mit.edu	37	14	74975375	74975375	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:74975375C>T	ENST00000261978.4	-	24	3970	c.3584G>A	c.(3583-3585)aGc>aAc	p.S1195N	LTBP2_ENST00000556690.1_Missense_Mutation_p.S1195N	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1195	Cys-rich.|EGF-like 12; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.S1195N(3)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGACCCGTGGCTGTTGAGGCA	0.632000													19	62					0	0	0.014323	0	0
ZC3H18	124245	broad.mit.edu	37	16	88653008	88653008	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:88653008G>T	ENST00000301011.5	+	3	804	c.603_splice	c.e3-1	p.D202_splice	ZC3H18_ENST00000452588.2_Splice_Site_p.D202_splice	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	202	Poly-Asp.					nucleus	nucleic acid binding|zinc ion binding	p.D202Y(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCTGTTTCAGGATGATGACCT	0.537000													23	76					2.32416e-17	2.89467e-17	0.014323	1	0
ANKFN1	162282	broad.mit.edu	37	17	54403587	54403587	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:54403587G>A	ENST00000566473.2	+	3	68	c.68G>A	c.(67-69)gGa>gAa	p.G23E	ANKFN1_ENST00000318698.2_Missense_Mutation_p.G23E			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	23								p.G23E(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CACAGAATAGGAAGGAGATTC	0.398000													85	108					0	0	0.014410	0	0
DPP6	1804	broad.mit.edu	37	7	154379601	154379601	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:154379601T>G	ENST00000406326.1	+	6	1272	c.869T>G	c.(868-870)cTg>cGg	p.L290R	DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000377770.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.L290R(2)		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)			AGACCCTGGCTGGAGGATTGC	0.567000													81	160					0	0	0.014410	0	0
ANK3	288	broad.mit.edu	37	10	61874084	61874084	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:61874084T>C	ENST00000280772.1	-	26	3038	c.2847A>G	c.(2845-2847)ctA>ctG	p.L949L	ANK3_ENST00000373827.2_Silent_p.L943L|ANK3_ENST00000355288.2_Silent_p.L83L|ANK3_ENST00000503366.1_Silent_p.L950L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	949					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.L949L(2)|p.L584L(2)|p.L83L(2)		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						TTGTGAATGTTAGATGCTGAA	0.328000													10	63					0	0	0.006214	0	0
PIGO	84720	broad.mit.edu	37	9	35092310	35092310	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:35092310A>C	ENST00000378617.3	-	7	1968	c.1574T>G	c.(1573-1575)tTt>tGt	p.F525C	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.F525C|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	525					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.F525C(2)		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)			TTTCCACAGAAAAGGGAGGAA	0.582000													69	45					0	0	0.014410	0	0
RTN4	57142	broad.mit.edu	37	2	55253716	55253716	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:55253716C>T	ENST00000337526.6	-	3	1762	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	RTN4_ENST00000404909.1_Missense_Mutation_p.E301K|RTN4_ENST00000405240.1_Missense_Mutation_p.E301K|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.E301K|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.E301K|RTN4_ENST00000354474.6_Missense_Mutation_p.E275K|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	507					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	p.E301K(2)|p.E507K(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GTATTCTTCTCTGTTACTATT	0.353000													35	153					0	0	0.015359	0	0
FAR2	55711	broad.mit.edu	37	12	29486613	29486613	+	Silent	SNP	C	C	T	rs142204438	by1000genomes	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:29486613C>T	ENST00000182377.4	+	12	1702	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	FAR2_ENST00000547116.1_Silent_p.A381A|FAR2_ENST00000536681.2_Silent_p.A478A	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	478					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	p.A478A(2)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TCCTTATCGCCTGGCGCCTTC	0.438000													39	177					0	0	0.025465	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88885469	88885469	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:88885469C>G	ENST00000303236.3	-	9	1841	c.1540G>C	c.(1540-1542)Gat>Cat	p.D514H	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D363H	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	514					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	p.D514H(2)		ovary(3)	3						AGAACAGGATCCTTTTTGCGG	0.398000													74	140					0	0	0.014410	0	0
OR10T2	128360	broad.mit.edu	37	1	158368853	158368853	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:158368853A>C	ENST00000334438.1	-	1	403	c.404T>G	c.(403-405)cTc>cGc	p.L135R		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L135R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GTTTATGATGAGTGTGTACCT	0.463000													45	185					0	0	0.014410	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181273	57181273	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:57181273G>T	ENST00000504228.1	+	6	1710	c.1605G>T	c.(1603-1605)cgG>cgT	p.R535R	KIAA1211_ENST00000541073.1_Silent_p.R528R|KIAA1211_ENST00000264229.6_Silent_p.R535R			Q6ZU35	K1211_HUMAN	KIAA1211	535								p.R535R(2)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCATGCCCCGGCCCTACACGT	0.642000													17	20					4.35082e-09	4.89467e-09	0.010504	1	0
FMN2	56776	broad.mit.edu	37	1	240493928	240493928	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:240493928T>C	ENST00000319653.9	+	11	4693	c.4463T>C	c.(4462-4464)aTg>aCg	p.M1488T	FMN2_ENST00000545751.1_Missense_Mutation_p.M84T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1488	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	p.M1631T(2)		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)			CCAGGGGTTATGCAGGTTCTA	0.383000													52	84					0	0	0.014410	0	0
BPIFB3	359710	broad.mit.edu	37	20	31661396	31661396	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:31661396G>T	ENST00000375494.3	+	15	1416	c.1416G>T	c.(1414-1416)ctG>ctT	p.L472L		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	472					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	p.L472L(2)									CTGTTGTGCTGACCGTGGCAT	0.557000													34	116					9.8876e-21	1.27343e-20	0.021022	1	0
WNT10B	7480	broad.mit.edu	37	12	49362003	49362003	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:49362003C>A	ENST00000301061.4	-	4	785	c.437G>T	c.(436-438)tGt>tTt	p.C146F	WNT10B_ENST00000403957.1_Missense_Mutation_p.C146F|WNT10B_ENST00000407467.1_Missense_Mutation_p.C146F	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	146					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.C146F(2)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CTTCCAGCCACAGCCACAGCT	0.622000													20	46					5.35047e-06	5.68112e-06	0.018920	1	0
PLA2G2A	5320	broad.mit.edu	37	1	20304613	20304613	+	Splice_Site	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:20304613A>T	ENST00000375111.3	-	5	458	c.185_splice	c.e5-1	p.C63_splice	PLA2G2A_ENST00000400520.3_Splice_Site_p.C63_splice|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	63					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	p.C63S(2)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACACAGCAGCTGTGAGGA	0.562000													24	58					0	0	0.021523	0	0
NMS	129521	broad.mit.edu	37	2	101093874	101093874	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:101093874G>A	ENST00000376865.1	+	5	266	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	87					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		p.G87R(2)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						AGTTAAAACTGGGGTCAGTAT	0.383000													18	65					0	0	0.012319	0	0
FLNC	2318	broad.mit.edu	37	7	128497383	128497383	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:128497383G>T	ENST00000325888.8	+	46	8034	c.7773G>T	c.(7771-7773)aaG>aaT	p.K2591N	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.K2558N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2591	Interaction with INPPL1.				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						TCAAGGCCAAGGTCACTGGTG	0.632000													4	67					0.00116845	0.00120347	0.021553	1	0
DNAH8	1769	broad.mit.edu	37	6	38867598	38867598	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:38867598G>T	ENST00000359357.3	+	60	8713	c.8459G>T	c.(8458-8460)gGt>gTt	p.G2820V	DNAH8_ENST00000449981.2_Missense_Mutation_p.G3037V|DNAH8_ENST00000441566.1_Missense_Mutation_p.G2784V					dynein, axonemal, heavy chain 8									p.G2820V(4)		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						TTGCTGGTGGGTGTTGGTGGT	0.353000													13	97					0.000151284	0.000157753	0.016723	1	0
OR6A2	8590	broad.mit.edu	37	11	6816486	6816486	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:6816486C>A	ENST00000332601.3	-	1	642	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152C(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCCAAGAGCCAGCAGCCATC	0.502000													30	72					7.26314e-15	8.79958e-15	0.007291	1	0
USP54	159195	broad.mit.edu	37	10	75289573	75289573	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:75289573C>G	ENST00000339859.4	-	14	2025	c.1925G>C	c.(1924-1926)cGg>cCg	p.R642P	USP54_ENST00000428547.1_Missense_Mutation_p.R492P|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.R642P|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.R642P			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	642					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.R642P(2)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGAGCCTGGCCGTGCTGGGCC	0.522000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	174					0	0	0.014410	0	0
TTC7A	57217	broad.mit.edu	37	2	47256495	47256495	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:47256495G>T	ENST00000319190.5	+	15	2142	c.1774G>T	c.(1774-1776)Gcc>Tcc	p.A592S	TTC7A_ENST00000394850.2_Missense_Mutation_p.A592S|TTC7A_ENST00000409245.1_Missense_Mutation_p.A558S|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_Missense_Mutation_p.A238S	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	592							binding	p.M591_A592>IS(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGTCAACATGGCCATCACCGA	0.617000													49	137					5.13769e-22	6.68518e-22	0.014410	1	0
EMILIN3	90187	broad.mit.edu	37	20	39990391	39990391	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:39990391G>T	ENST00000332312.3	-	4	2010	c.1818C>A	c.(1816-1818)agC>agA	p.S606R		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	606						proteinaceous extracellular matrix		p.S606R(2)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CAGAGTACTGGCTGACAGAGT	0.582000													62	105					3.00472e-47	4.26186e-47	0.014410	1	0
FCRLB	127943	broad.mit.edu	37	1	161692781	161692781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:161692781C>A	ENST00000367948.2	+	4	249	c.34C>A	c.(34-36)Cca>Aca	p.P12T	FCRLB_ENST00000367945.1_Intron|FCRLB_ENST00000392158.1_Missense_Mutation_p.P12T|FCRLB_ENST00000367944.3_Intron|FCRLB_ENST00000367946.3_Missense_Mutation_p.P12T|FCRLB_ENST00000336830.5_Missense_Mutation_p.P12T			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	12						endoplasmic reticulum		p.P12T(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TTCTGCAGTTCCAAGCAGTGG	0.458000													45	84					8.86878e-18	1.1064e-17	0.014410	1	0
KCNC2	3747	broad.mit.edu	37	12	75444633	75444633	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:75444633C>A	ENST00000549446.1	-	3	1832	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	KCNC2_ENST00000298972.1_Silent_p.L384L|KCNC2_ENST00000350228.2_Silent_p.L384L|KCNC2_ENST00000540018.1_Silent_p.L384L|KCNC2_ENST00000341669.3_Silent_p.L384L|KCNC2_ENST00000548513.1_Silent_p.L384L|KCNC2_ENST00000393288.2_Silent_p.L384L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000550433.1_Silent_p.L384L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	384					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.L384L(4)		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						AAATTATCAGCAGCAAAAATT	0.453000													18	73					2.5808e-16	3.18284e-16	0.006122	1	0
WNK1	65125	broad.mit.edu	37	12	970256	970256	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:970256G>C	ENST00000537687.1	+	7	2341	c.1698G>C	c.(1696-1698)aaG>aaC	p.K566N	WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000315939.6_Missense_Mutation_p.K566N|WNK1_ENST00000340908.4_Missense_Mutation_p.K159N|WNK1_ENST00000530271.2_Missense_Mutation_p.K566N|WNK1_ENST00000535572.1_Missense_Mutation_p.K566N	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	566					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.K566N(4)		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)			CATTAATTAAGAGGAAACGAG	0.433000													78	324					0	0	0.014410	0	0
MCHR2	84539	broad.mit.edu	37	6	100395759	100395759	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:100395759G>A	ENST00000281806.2	-	3	585	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	MCHR2_ENST00000445970.1_Missense_Mutation_p.H91Y|MCHR2_ENST00000369212.1_Missense_Mutation_p.H91Y	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	91						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H91Y(2)		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)		GCCCATTGGTGAATAAGAAAA	0.483000													35	144					0	0	0.013726	0	0
RGL1	23179	broad.mit.edu	37	1	183885633	183885633	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:183885633C>T	ENST00000304685.3	+	17	2368	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	RGL1_ENST00000360851.3_Missense_Mutation_p.S601F|RGL1_ENST00000536277.1_Missense_Mutation_p.S599F|RGL1_ENST00000367531.1_Missense_Mutation_p.S636F|RGL1_ENST00000539189.1_Missense_Mutation_p.S572F	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	601					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	p.S636F(2)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GACACAAATTCCTCAGGGATG	0.507000													63	209					0	0	0.014410	0	0
PCDH15	65217	broad.mit.edu	37	10	55591271	55591271	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:55591271C>A	ENST00000373965.2	-	31	4421	c.4027G>T	c.(4027-4029)Gat>Tat	p.D1343Y	PCDH15_ENST00000320301.6_Missense_Mutation_p.D1336Y|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1341Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1336Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1343Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1336Y|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.D947Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1336Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1265Y|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1314Y|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1299Y	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1336					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D1336Y(4)|p.D1341Y(4)		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)				TTATTGATATCAAGTAGTTTG	0.353000										HNSCC(58;0.16)			26	65					3.17567e-06	3.37666e-06	0.008361	1	0
ZBTB20	26137	broad.mit.edu	37	3	114057870	114057870	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:114057870C>A	ENST00000462705.1	-	12	2810	c.1989G>T	c.(1987-1989)atG>atT	p.M663I	ZBTB20_ENST00000471418.1_Missense_Mutation_p.M663I|ZBTB20_ENST00000474710.1_Missense_Mutation_p.M736I|ZBTB20_ENST00000357258.3_Missense_Mutation_p.M663I|ZBTB20_ENST00000393785.2_Missense_Mutation_p.M663I|ZBTB20_ENST00000481632.1_Missense_Mutation_p.M663I|ZBTB20_ENST00000464560.1_Missense_Mutation_p.M663I	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M663I(2)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CAGACACATGCATCCTCATGT	0.453000													40	73					3.68427e-32	5.01857e-32	0.010771	1	0
NUMB	8650	broad.mit.edu	37	14	73743882	73743882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:73743882G>A	ENST00000556772.1	-	7	3215	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	NUMB_ENST00000355058.3_Nonsense_Mutation_p.Q454*|NUMB_ENST00000544991.3_Nonsense_Mutation_p.Q259*|NUMB_ENST00000535282.1_Nonsense_Mutation_p.Q443*|NUMB_ENST00000557597.1_Nonsense_Mutation_p.Q443*|NUMB_ENST00000554521.2_Nonsense_Mutation_p.Q248*|NUMB_ENST00000454166.4_Nonsense_Mutation_p.Q308*|NUMB_ENST00000359560.3_Nonsense_Mutation_p.Q443*|NUMB_ENST00000560335.1_Nonsense_Mutation_p.Q308*|NUMB_ENST00000356296.4_Nonsense_Mutation_p.Q406*|NUMB_ENST00000559312.1_Nonsense_Mutation_p.Q259*|NUMB_ENST00000555394.1_Nonsense_Mutation_p.Q406*|NUMB_ENST00000554546.1_Nonsense_Mutation_p.Q395*|NUMB_ENST00000555738.2_Nonsense_Mutation_p.Q297*|NUMB_ENST00000555238.1_Nonsense_Mutation_p.Q454*			P49757	NUMB_HUMAN	numb homolog (Drosophila)	454					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		p.Q454*(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TGGGGCTGCTGAGCCCGGACG	0.602000													16	53					0	0	0.024245	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170193	107170193	+	RNA	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:107170193A>T	ENST00000390633.2	-	0	149																											AGGCTTCTTCACCTCAGCCCC	0.577000													31	61					0	0	0.012213	0	0
LEF1	51176	broad.mit.edu	37	4	109088767	109088767	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:109088767T>C	ENST00000379951.2	-	1	1345	c.157A>G	c.(157-159)Atc>Gtc	p.I53V	LEF1_ENST00000265165.1_Missense_Mutation_p.I53V|LEF1_ENST00000438313.2_Missense_Mutation_p.I53V|LEF1-AS1_ENST00000436413.1_RNA	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	53	CTNNB1-binding (By similarity).				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	p.I53V(2)		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)		GAAGACTTGATGTCAGCTAAA	0.587000													36	143					0	0	0.021022	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218650	130218650	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:130218650C>T	ENST00000276211.5	+	6	1144	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R131C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R255C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	267	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R267C(2)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCAGCGAGTGCGTCAGGTAAA	0.498000													22	219					0	0	0.010504	0	0
HNRNPU	3192	broad.mit.edu	37	1	245018903	245018903	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:245018903C>T	ENST00000444376.2	-	12	2352	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G	HNRNPU_ENST00000283179.9_Silent_p.G725G	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	725	Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	p.G725G(2)|p.G706G(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CGCCACGATTCCCAGGGGCTA	0.468000													11	90					0	0	0.024245	0	0
LPP	4026	broad.mit.edu	37	3	188202445	188202445	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:188202445A>T	ENST00000312675.4	+	4	505	c.259A>T	c.(259-261)Aac>Tac	p.N87Y	LPP_ENST00000543006.1_Missense_Mutation_p.N87Y|LPP_ENST00000448637.1_Missense_Mutation_p.N87Y	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	87	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	p.N87Y(2)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TATCTCTGGAAACTTTCCTCC	0.413000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								51	290					0	0	0.014410	0	0
ERVW-1	30816	broad.mit.edu	37	7	92099512	92099512	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:92099512A>T	ENST00000493463.2	-	1	1107	c.184T>A	c.(184-186)Ttc>Atc	p.F62I	ERVW-1_ENST00000604270.1_Intron|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Missense_Mutation_p.F62I	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		62					syncytium formation	integral to membrane|plasma membrane|virion		p.F62I(2)		endometrium(1)|large_intestine(1)|lung(15)	17						tgggcagtgaaggtgggggtt	0.478000													63	203					0	0	0.014410	0	0
NRXN3	9369	broad.mit.edu	37	14	79434538	79434538	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:79434538G>T	ENST00000554719.1	+	11	2363	c.1872G>T	c.(1870-1872)ctG>ctT	p.L624L	NRXN3_ENST00000335750.5_Silent_p.L624L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	228					angiogenesis|cell adhesion	integral to membrane		p.L624L(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGCTGGTCTGGCCCAAGGCA	0.488000													42	62					4.0306e-16	4.92267e-16	0.014410	1	0
TTN	7273	broad.mit.edu	37	2	179550274	179550274	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:179550274G>A	ENST00000589042.1	-	128	32587	c.32363C>T	c.(32362-32364)tCt>tTt	p.S10788F	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S10471F|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S9544F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10471	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S9544F(2)|p.S9544Y(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)			CACTCTCTTAGAAATAATGTG	0.358000													16	27					0	0	0.006122	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134478232	134478232	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:134478232C>A	ENST00000319914.5	-	5	1435	c.408G>T	c.(406-408)tcG>tcT	p.S136S	ST3GAL1_ENST00000521180.1_Silent_p.S136S|ST3GAL1_ENST00000522652.1_Silent_p.S136S|ST3GAL1_ENST00000399640.2_Silent_p.S136S			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	136					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	p.S136S(2)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GGCAGCCCACCGACCTCTTCT	0.577000													34	114					1.08052e-11	1.25673e-11	0.019004	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52704107	52704107	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:52704107C>T	ENST00000287727.3	+	4	1190	c.1018C>T	c.(1018-1020)Ctt>Ttt	p.L340F	ZFYVE9_ENST00000361625.1_Missense_Mutation_p.L340F|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.L340F|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.L340F	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	340					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	p.L340F(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TTTACCTTTGCTTCTCAAACC	0.453000													54	123					0	0	0.014410	0	0
CLMN	79789	broad.mit.edu	37	14	95677189	95677189	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:95677189C>G	ENST00000298912.4	-	7	749	c.636G>C	c.(634-636)gcG>gcC	p.A212A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	212	Actin-binding.|CH 2.					integral to membrane	actin binding	p.A212A(1)		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)		TCCAACTGCCCGCAAAGTCCT	0.562000													19	193					0	0	0.008361	0	0
CCSER1	401145	broad.mit.edu	37	4	91230336	91230336	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:91230336G>T	ENST00000509176.1	+	2	1189	c.901G>T	c.(901-903)Gct>Tct	p.A301S	CCSER1_ENST00000432775.2_Missense_Mutation_p.A301S|CCSER1_ENST00000333691.8_Missense_Mutation_p.A301S	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1									p.A301S(4)									CCTCAATTCTGCTGCTGTTAC	0.433000													65	183					1.34159e-35	1.84408e-35	0.014410	1	0
KIAA1033	23325	broad.mit.edu	37	12	105538144	105538144	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:105538144G>T	ENST00000332180.5	+	21	2177	c.2090G>T	c.(2089-2091)cGa>cTa	p.R697L		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	697					endosome transport	WASH complex		p.R697L(2)|p.R697Q(1)		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						CTGGATGACCGAAACCCTTTC	0.373000													31	99					3.11337e-16	3.82096e-16	0.013726	1	0
MAST3	23031	broad.mit.edu	37	19	18254604	18254604	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:18254604T>G	ENST00000262811.5	+	21	2284	c.2284T>G	c.(2284-2286)Tgt>Ggt	p.C762G		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	762							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TGGATCCTCCTGTCAGTCATC	0.592000													4	37					0	0	0.009096	0	0
PRPF39	55015	broad.mit.edu	37	14	45571881	45571881	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:45571881A>G	ENST00000355765.6	+	5	889	c.719A>G	c.(718-720)tAt>tGt	p.Y240C		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	240					mRNA processing|RNA splicing	nucleus	binding	p.Y240C(2)|p.Y119C(2)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ACACAGCTGTATAGTCATCAT	0.338000													86	201					0	0	0.014410	0	0
ACACB	32	broad.mit.edu	37	12	109647064	109647064	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:109647064G>A	ENST00000338432.7	+	21	3274	c.3155G>A	c.(3154-3156)cGc>cAc	p.R1052H	ACACB_ENST00000377848.3_Missense_Mutation_p.R1052H|ACACB_ENST00000377854.5_Missense_Mutation_p.R1052H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1052					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GTGGCAGGCCGCATCCCCGCC	0.637000													3	13					0	0	0.004672	0	0
UNC13C	440279	broad.mit.edu	37	15	54305855	54305855	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:54305855G>T	ENST00000545554.1	+	1	755	c.755G>T	c.(754-756)gGa>gTa	p.G252V	UNC13C_ENST00000537900.1_Missense_Mutation_p.G252V|UNC13C_ENST00000260323.11_Missense_Mutation_p.G252V			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	252					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G252V(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAACTTCAGGGAATAAGTCAG	0.463000													30	95					2.4375e-19	3.09186e-19	0.007291	1	0
FAM111B	374393	broad.mit.edu	37	11	58891882	58891882	+	Missense_Mutation	SNP	C	C	A	rs150852006		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:58891882C>A	ENST00000343597.3	+	4	503	c.312C>A	c.(310-312)agC>agA	p.S104R	FAM111B_ENST00000411426.1_Missense_Mutation_p.S74R|FAM111B_ENST00000529618.1_Missense_Mutation_p.S74R	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	104				S -> G (in Ref. 3; AAH62456).			catalytic activity	p.S104R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GTAAACCCAGCGAGAGTATCT	0.338000													35	85					2.47316e-13	2.94442e-13	0.015359	1	0
SRBD1	55133	broad.mit.edu	37	2	45616530	45616530	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:45616530G>A	ENST00000263736.4	-	21	2969	c.2907C>T	c.(2905-2907)ccC>ccT	p.P969P	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Silent_p.P488P	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	969	S1 motif.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTCTTTCTCCGGGGCCCAGTC	0.468000													4	134					0	0	0.009096	0	0
AFF3	3899	broad.mit.edu	37	2	100210522	100210522	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:100210522C>T	ENST00000317233.4	-	14	1836	c.1601G>A	c.(1600-1602)aGg>aAg	p.R534K	AFF3_ENST00000409236.1_Missense_Mutation_p.R534K|AFF3_ENST00000356421.2_Missense_Mutation_p.R559K|AFF3_ENST00000409579.1_Missense_Mutation_p.R559K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	534					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R559K(2)		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						GTTGGCTGTCCTTGGCCTTTG	0.647000													131	191					0	0	0.014410	0	0
FST	10468	broad.mit.edu	37	5	52779455	52779455	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:52779455G>A	ENST00000396947.3	+	3	565	c.399G>A	c.(397-399)ggG>ggA	p.G133G	FST_ENST00000256759.3_Silent_p.G133G	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	133	Kazal-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	p.G133G(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CAGTCTGCGGGCTGGATGGGA	0.512000													26	61					0	0	0.018920	0	0
GCAT	23464	broad.mit.edu	37	22	38209491	38209491	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:38209491G>T	ENST00000323205.6	+	4	592	c.529G>T	c.(529-531)Gca>Tca	p.A177S	GCAT_ENST00000248924.6_Missense_Mutation_p.A151S|GCAT_ENST00000415371.1_3'UTR	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	151					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCCAGAGGACGCAGTCCTGTC	0.607000													13	12					5.50884e-06	5.83289e-06	0.013537	1	0
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K														p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333000													5	146					1.26484e-09	1.42933e-09	0.003080	1	0
PTPLA	9200	broad.mit.edu	37	10	17636321	17636321	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:17636321C>T	ENST00000361271.3	-	6	704	c.667G>A	c.(667-669)Gct>Act	p.A223T		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	223					fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity	p.A223T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						GGCAAGGCAGCGTATATTGTA	0.313000													5	99					0	0	0.014758	0	0
TAF3	83860	broad.mit.edu	37	10	8056639	8056639	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:8056639G>C	ENST00000344293.5	+	7	2921	c.2715G>C	c.(2713-2715)atG>atC	p.M905I		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	905					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	p.M905I(2)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CAGAAGAGATGCAGTGGTTCT	0.507000													16	43					0	0	0.004990	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33628193	33628193	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:33628193C>T	ENST00000321505.4	+	13	4175	c.3995C>T	c.(3994-3996)gCg>gTg	p.A1332V	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1338V					KIAA1549-like									p.A1332V(1)									TCAGTGCCAGCGAGTGACGAA	0.483000													7	85					0	0	0.008291	0	0
OR51E1	143503	broad.mit.edu	37	11	4674113	4674113	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:4674113G>T	ENST00000396952.5	+	2	1007	c.357G>T	c.(355-357)ctG>ctT	p.L119L	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L118L(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTGCTGCTGGCCATGGCTT	0.517000													23	93					2.89027e-11	3.33594e-11	0.014323	1	0
NDST4	64579	broad.mit.edu	37	4	115997379	115997379	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:115997379C>T	ENST00000264363.2	-	2	1492	c.814G>A	c.(814-816)Ggc>Agc	p.G272S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	272	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.G272S(1)		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)		AAGTTGTTGCCAAAAAGTACT	0.448000													40	139					0	0	0.025465	0	0
FRMPD1	22844	broad.mit.edu	37	9	37724227	37724227	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:37724227T>C	ENST00000539465.1	+	7	1115	c.522T>C	c.(520-522)aaT>aaC	p.N174N	FRMPD1_ENST00000541302.1_Silent_p.N43N|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.N174N|FRMPD1_ENST00000536622.1_5'UTR			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	174						cytoskeleton|cytosol|plasma membrane		p.N174N(2)		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)		TCCAGGGTAATTCTCTGCTGT	0.443000													84	38					0	0	0.014410	0	0
TNR	7143	broad.mit.edu	37	1	175331897	175331897	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:175331897G>C	ENST00000367674.1	-	14	3464	c.2756C>G	c.(2755-2757)aCc>aGc	p.T919S	TNR_ENST00000263525.2_Missense_Mutation_p.T919S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	919	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.T919S(2)		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)					TCTGGTGATGGTGAATTCTGT	0.517000													45	154					0	0	0.014410	0	0
C21orf62	56245	broad.mit.edu	37	21	34166538	34166538	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr21:34166538G>A	ENST00000536776.1	-	2	335	c.195C>T	c.(193-195)acC>acT	p.T65T	C21orf49_ENST00000382375.4_Intron|C21orf62_ENST00000479548.1_Silent_p.T65T|C21orf49_ENST00000477513.1_Intron|C21orf62_ENST00000487113.1_Silent_p.T65T|C21orf49_ENST00000453404.1_Intron|C21orf49_ENST00000382378.1_Intron|C21orf49_ENST00000382377.3_Intron|C21orf62_ENST00000490358.1_Silent_p.T65T	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	65										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				GGGGCAGGACGGTTTTACAGT	0.537000													11	123					0	0	0.008291	0	0
SEC62	7095	broad.mit.edu	37	3	169693437	169693437	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:169693437G>T	ENST00000337002.4	+	2	136	c.78G>T	c.(76-78)aaG>aaT	p.K26N	SEC62_ENST00000480708.1_Missense_Mutation_p.K26N	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	26					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	p.K26N(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						CTGTGGCCAAGTATCTTCGAT	0.353000													35	72					6.97489e-18	8.71573e-18	0.021022	1	0
C7orf31	136895	broad.mit.edu	37	7	25175779	25175779	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:25175779T>C	ENST00000409280.1	-	10	1893	c.1585A>G	c.(1585-1587)Att>Gtt	p.I529V	C7orf31_ENST00000283905.3_Missense_Mutation_p.I529V			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	529										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GCTCTAGGAATCCAACCAAGA	0.388000													6	224					0	0	0.001984	0	0
GLB1L2	89944	broad.mit.edu	37	11	134240907	134240907	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:134240907C>G	ENST00000535456.2	+	13	1409	c.1221C>G	c.(1219-1221)atC>atG	p.I407M	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.I407M|GLB1L2_ENST00000389881.3_Missense_Mutation_p.I407M	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	407					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.I407M(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGCAGCCAATCAAGTCTGAAA	0.567000													53	309					0	0	0.014410	0	0
LILRB2	10288	broad.mit.edu	37	19	54783844	54783844	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:54783844G>T	ENST00000391748.1	-	4	284	c.157C>A	c.(157-159)Ctt>Att	p.L53I	LILRB2_ENST00000314446.5_Missense_Mutation_p.L53I|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000391746.1_Missense_Mutation_p.L53I|LILRB2_ENST00000391749.4_Missense_Mutation_p.L53I|LILRB2_ENST00000434421.1_Intron	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	53	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L53I(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGCTTCAAGGCTCCCCTGA	0.547000													147	133					1.24568e-56	1.78022e-56	0.014410	1	0
AGT	183	broad.mit.edu	37	1	230845985	230845985	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:230845985C>A	ENST00000366667.4	-	2	826	c.612G>T	c.(610-612)ctG>ctT	p.L204L		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	204					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	p.L204L(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CCGTGGACAGCAGCAGCTGGG	0.667000													25	52					3.6726e-16	4.4927e-16	0.021523	1	0
FAM135B	51059	broad.mit.edu	37	8	139164527	139164527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:139164527C>A	ENST00000395297.1	-	13	2361	c.2191G>T	c.(2191-2193)Gga>Tga	p.G731*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	731								p.G731L(4)		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)			TCTGTGTGTCCACCCTCTAGG	0.557000										HNSCC(54;0.14)			31	57					2.46105e-21	3.18044e-21	0.010818	1	0
KCNJ1	3758	broad.mit.edu	37	11	128710054	128710054	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:128710054T>A	ENST00000392665.2	-	2	229	c.85A>T	c.(85-87)Agg>Tgg	p.R29W	KCNJ1_ENST00000392666.1_Missense_Mutation_p.R29W|KCNJ1_ENST00000392664.2_Missense_Mutation_p.R48W|KCNJ1_ENST00000324036.3_Missense_Mutation_p.R29W|KCNJ1_ENST00000440599.2_Missense_Mutation_p.R29W	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	48					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ATGTTGCACCTTCCATCTTTG	0.438000													10	294					0	0	0.006214	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111947854	111947854	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:111947854T>C	ENST00000374566.3	-	23	2850	c.2333A>G	c.(2332-2334)cAc>cGc	p.H778R		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	778						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.H778R(2)		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						ACAGCGAGAGTGGGCACAGTG	0.592000													33	20					0	0	0.015359	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33954745	33954745	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:33954745C>T	ENST00000361328.3	+	4	788	c.635C>T	c.(634-636)cCa>cTa	p.P212L	ZSCAN20_ENST00000373413.2_Intron|ZSCAN20_ENST00000480917.1_3'UTR	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	212					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P212L(2)		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)				CCTACTCTCCCAAAGATGGGG	0.517000													16	54					0	0	0.008871	0	0
SENP2	59343	broad.mit.edu	37	3	185329518	185329518	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:185329518T>C	ENST00000296257.5	+	8	1042	c.802T>C	c.(802-804)Ttt>Ctt	p.F268L	SENP2_ENST00000545472.1_Missense_Mutation_p.F258L|SENP2_ENST00000427465.2_Missense_Mutation_p.F92L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	268					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	p.F268L(1)		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)			AACAACTCAGTTTGTTCCAAA	0.378000													3	71					0	0	0.004672	0	0
FAM135B	51059	broad.mit.edu	37	8	139164526	139164526	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:139164526C>A	ENST00000395297.1	-	13	2362	c.2192G>T	c.(2191-2193)gGa>gTa	p.G731V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	731								p.G731L(4)		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)			TTCTGTGTGTCCACCCTCTAG	0.557000										HNSCC(54;0.14)			31	57					9.78485e-24	1.28874e-23	0.013726	1	0
TRRAP	8295	broad.mit.edu	37	7	98533224	98533224	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:98533224A>G	ENST00000359863.4	+	28	4246	c.4037A>G	c.(4036-4038)gAa>gGa	p.E1346G	TRRAP_ENST00000446306.3_Missense_Mutation_p.E1345G|TRRAP_ENST00000355540.3_Missense_Mutation_p.E1346G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1346					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.E1346G(4)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGAGGCTGAAGATTCAGCT	0.388000													37	54					0	0	0.027894	0	0
HDAC2	3066	broad.mit.edu	37	6	114277837	114277837	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:114277837G>C	ENST00000519065.1	-	4	680	c.304C>G	c.(304-306)Cca>Gca	p.P102A	HDAC2_ENST00000398283.2_Missense_Mutation_p.P196A|HDAC2_ENST00000368632.2_Missense_Mutation_p.P72A|HDAC2_ENST00000519108.1_Missense_Mutation_p.P72A			Q92769	HDAC2_HUMAN	histone deacetylase 2	102	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.P196A(1)|p.P102A(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	TCAAACACTGGACAATCTTCT	0.363000													7	55					0	0	0.003080	0	0
ZNF391	346157	broad.mit.edu	37	6	27368223	27368223	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:27368223C>G	ENST00000244576.4	+	3	619	c.74C>G	c.(73-75)tCa>tGa	p.S25*		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGCCAATTATCAAGGCAAACA	0.418000													5	175					0	0	0.001984	0	0
DPAGT1	1798	broad.mit.edu	37	11	118971090	118971090	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:118971090C>A	ENST00000409993.2	-	6	2076	c.525G>T	c.(523-525)ctG>ctT	p.L175L	DPAGT1_ENST00000432443.2_Silent_p.L68L|DPAGT1_ENST00000354202.4_Silent_p.L175L			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	175					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	p.L175L(2)		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)		ACACTGCCAGCAGCCCCATGT	0.463000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	195					1.19403e-26	1.59205e-26	0.014410	1	0
VTI1A	143187	broad.mit.edu	37	10	114428028	114428028	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:114428028T>A	ENST00000393077.2	+	6	595	c.479T>A	c.(478-480)aTa>aAa	p.I160K	VTI1A_ENST00000432306.1_Missense_Mutation_p.I160K	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	160					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity	p.I160K(2)	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)		AGAGAAAAGATACAGCGAGCA	0.358000			T	TCF7L2	colorectal								8	36					0	0	0.004482	0	0
LPPR5	163404	broad.mit.edu	37	1	99470209	99470209	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:99470209C>T	ENST00000370188.3	-	1	379	c.19G>A	c.(19-21)Gcg>Acg	p.A7T	RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000263177.4_Missense_Mutation_p.A7T	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		7						integral to membrane	hydrolase activity	p.A7T(2)									CTGGTGAGCGCCGCGGGCAGC	0.687000													39	63					0	0	0.010771	0	0
NEGR1	257194	broad.mit.edu	37	1	72163734	72163734	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:72163734A>T	ENST00000357731.4	-	4	863	c.624T>A	c.(622-624)gaT>gaA	p.D208E	NEGR1_ENST00000434200.1_Intron|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Missense_Mutation_p.D80E	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	208	Ig-like C2-type 2.			D -> A (in Ref. 2).	cell adhesion	anchored to membrane|plasma membrane		p.D208E(2)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGAATGACACATCATTTTCCG	0.353000													21	125					0	0	0.014323	0	0
DDX20	11218	broad.mit.edu	37	1	112308806	112308806	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:112308806A>G	ENST00000475700.1	+	3	2942	c.584A>G	c.(583-585)tAc>tGc	p.Y195C	DDX20_ENST00000369702.4_Missense_Mutation_p.Y587C			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	587	Helicase ATP-binding.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	p.Y587C(2)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCAGCCATACACGTTGACT	0.443000													82	163					0	0	0.014410	0	0
MKI67	4288	broad.mit.edu	37	10	129907466	129907466	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:129907466C>A	ENST00000368654.3	-	13	3013	c.2638G>T	c.(2638-2640)Gag>Tag	p.E880*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.E520*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	880					cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.E880*(2)		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)				TTCCTGAACTCTGTAGACCTT	0.403000													58	180					6.25564e-26	8.32617e-26	0.014410	1	0
CYP1B1	1545	broad.mit.edu	37	2	38297933	38297933	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:38297933G>C	ENST00000260630.3	-	3	1965	c.1564C>G	c.(1564-1566)Ctc>Gtc	p.L522V	CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Missense_Mutation_p.L522V	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	522					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	p.L522V(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GACTCTCTGAGAGTGACATTG	0.408000													54	123					0	0	0.014410	0	0
FAT1	2195	broad.mit.edu	37	4	187541804	187541804	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:187541804A>C	ENST00000441802.2	-	10	6145	c.5936T>G	c.(5935-5937)tTt>tGt	p.F1979C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1979	Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.F1979C(2)|p.F1982C(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCCTGGGTAAACTTTAGGTG	0.453000										HNSCC(5;0.00058)			82	268					0	0	0.014410	0	0
CAPN7	23473	broad.mit.edu	37	3	15288300	15288300	+	Splice_Site	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:15288300G>C	ENST00000253693.2	+	18	2325	c.2073_splice	c.e18+1	p.R691_splice		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	691	Domain III.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity	p.R691P(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TTATCAAAACGGGTGAGAAAA	0.294000													15	34					0	0	0.028581	0	0
ANTXR1	84168	broad.mit.edu	37	2	69304605	69304605	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:69304605A>G	ENST00000303714.4	+	8	949	c.627A>G	c.(625-627)caA>caG	p.Q209Q	ANTXR1_ENST00000409829.3_Silent_p.Q209Q|ANTXR1_ENST00000409349.3_Silent_p.Q209Q	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	209	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.Q209Q(4)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGGCTCTGCAAGGCATCATCC	0.488000									Familial Infantile Hemangioma				28	228					0	0	0.008361	0	0
KRT8P12	90133	broad.mit.edu	37	3	160285713	160285713	+	RNA	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:160285713A>G	ENST00000468527.1	+	0	724																											AGCCACCCCTACACTAGTGGG	0.622000													10	9					0	0	0.010729	0	0
EDNRB	1910	broad.mit.edu	37	13	78492316	78492316	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:78492316G>C	ENST00000377211.4	-	2	815	c.663C>G	c.(661-663)tgC>tgG	p.C221W	EDNRB_ENST00000446573.1_Missense_Mutation_p.C131W|EDNRB_ENST00000334286.5_Missense_Mutation_p.C131W	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	131					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.C131W(2)|p.C221W(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CGTTTCGCATGCACTTGTTCT	0.483000													74	61					0	0	0.014410	0	0
SPN	6693	broad.mit.edu	37	16	29675057	29675057	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:29675057C>T	ENST00000360121.3	+	2	100	c.8C>T	c.(7-9)aCg>aTg	p.T3M	SPN_ENST00000395389.2_Missense_Mutation_p.T3M|AC009133.19_ENST00000449759.1_Intron	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	3					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GAAATGGCCACGCTTCTCCTT	0.632000													8	450					0	0	0.004482	0	0
WT1	7490	broad.mit.edu	37	11	32413610	32413610	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:32413610C>A	ENST00000332351.3	-	9	1624	c.1339_splice	c.e9-1	p.G447_splice	WT1_ENST00000379079.2_Splice_Site_p.G235_splice|WT1_ENST00000530998.1_Splice_Site_p.G218_splice|WT1_ENST00000448076.3_Splice_Site_p.G447_splice	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	379					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G379V(4)|p.G235V(2)|p.V380_S410del(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGGTTTCACACCTAAATGGAC	0.532000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				120	219					3.84086e-47	5.43762e-47	0.014410	1	0
TRPV6	55503	broad.mit.edu	37	7	142570163	142570163	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:142570163G>A	ENST00000359396.3	-	14	2102	c.1857C>T	c.(1855-1857)tgC>tgT	p.C619C		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	619					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ACTCCCGTCCGCAGATCCCGG	0.622000													7	58					0	0	0.001984	0	0
PHACTR3	116154	broad.mit.edu	37	20	58318161	58318161	+	Splice_Site	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:58318161G>A	ENST00000371015.1	+	2	585		c.e2-1		PHACTR3_ENST00000395636.2_Splice_Site|PHACTR3_ENST00000395639.4_Splice_Site|PHACTR3_ENST00000355648.4_Splice_Site|PHACTR3_ENST00000541461.1_Splice_Site|PHACTR3_ENST00000361300.4_Splice_Site|PHACTR3_ENST00000359926.3_Splice_Site	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3							nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.?(2)		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)			TCGTCTTCCAGATGAGATGGA	0.587000													102	211					0	0	0.014410	0	0
THOP1	7064	broad.mit.edu	37	19	2790467	2790467	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:2790467A>G	ENST00000307741.6	+	2	268	c.65A>G	c.(64-66)aAc>aGc	p.N22S		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	22					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	p.N22S(2)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		TCTGTGGTAAACGACCTGCGG	0.607000													59	81					0	0	0.014410	0	0
SCN9A	6335	broad.mit.edu	37	2	167168167	167168167	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:167168167C>G	ENST00000375387.4	-	2	440	c.100G>C	c.(100-102)Gaa>Caa	p.E34Q	SCN9A_ENST00000409435.1_Missense_Mutation_p.E34Q|SCN9A_ENST00000303354.6_Missense_Mutation_p.E34Q|SCN9A_ENST00000409672.1_Missense_Mutation_p.E34Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	34						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E34Q(2)		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)	TCTTTGGGTTCCTTTGATTTT	0.468000													43	181					0	0	0.009718	0	0
ASUN	55726	broad.mit.edu	37	12	27067485	27067485	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:27067485G>C	ENST00000261191.7	-	12	1811	c.1275C>G	c.(1273-1275)aaC>aaG	p.N425K	ASUN_ENST00000539625.1_Missense_Mutation_p.N324K	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	425					cell division|mitosis|regulation of mitotic cell cycle		protein binding										GAGTTAATCTGTTTTCCCTCA	0.338000													13	400					0	0	0.016723	0	0
CYP3A7	1551	broad.mit.edu	37	7	99311132	99311132	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:99311132C>T	ENST00000336374.2	-	9	827	c.825G>A	c.(823-825)atG>atA	p.M275I		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	275					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.M275I(2)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GAGAGTCAATCATCAGCTGAA	0.433000													20	148					0	0	0.014323	0	0
TOP2A	7153	broad.mit.edu	37	17	38545891	38545891	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:38545891C>T	ENST00000423485.1	-	35	4634	c.4476G>A	c.(4474-4476)aaG>aaA	p.K1492K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1492					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CACTCTCCCCCTTGGATTTCT	0.398000													3	38					0	0	0.009096	0	0
METTL18	92342	broad.mit.edu	37	1	169761944	169761944	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:169761944T>C	ENST00000310392.4	-	2	1246	c.893A>G	c.(892-894)aAc>aGc	p.N298S	C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.N298S	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	298						cytoplasm	protein methyltransferase activity	p.N298S(2)		kidney(1)|large_intestine(3)|lung(4)	8						ATAATCTGGGTTGTAAATGGT	0.343000													12	55					0	0	0.013537	0	0
ZNF318	24149	broad.mit.edu	37	6	43308638	43308638	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:43308638A>G	ENST00000361428.2	-	9	3462	c.3385T>C	c.(3385-3387)Ttt>Ctt	p.F1129L	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1129					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)			GGAACCAGAAACTCAGAGCCT	0.448000													8	129					0	0	0.003080	0	0
ZBTB40	9923	broad.mit.edu	37	1	22837737	22837737	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:22837737C>A	ENST00000404138.1	+	11	2410	c.1899C>A	c.(1897-1899)gcC>gcA	p.A633A	ZBTB40_ENST00000375647.4_Silent_p.A633A|ZBTB40_ENST00000374651.4_Silent_p.A521A	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	633					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A633A(2)		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)		TGAGCAGAGCCATGGAAAAAT	0.512000													42	235					1.62957e-23	2.14253e-23	0.008740	1	0
CSMD3	114788	broad.mit.edu	37	8	113651001	113651001	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:113651001A>G	ENST00000297405.5	-	21	3694	c.3450T>C	c.(3448-3450)taT>taC	p.Y1150Y	CSMD3_ENST00000455883.2_Silent_p.Y1046Y|CSMD3_ENST00000352409.3_Silent_p.Y1150Y|CSMD3_ENST00000343508.3_Silent_p.Y1110Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1150	CUB 6.					integral to membrane|plasma membrane		p.Y1110Y(2)|p.Y1150Y(2)		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						TGAAATTTCCATAGAGACCAG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	90					0	0	0.008361	0	0
NUGGC	389643	broad.mit.edu	37	8	27891171	27891171	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:27891171A>G	ENST00000413272.2	-	14	1797	c.1655T>C	c.(1654-1656)gTt>gCt	p.V552A	NUGGC_ENST00000341513.6_Missense_Mutation_p.V552A	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.V552A(4)									TTTCAGGCAAACAGCTTTCAG	0.438000													11	116					0	0	0.008291	0	0
HUWE1	10075	broad.mit.edu	37	X	53641577	53641577	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:53641577T>A	ENST00000342160.3	-	22	2636	c.2179A>T	c.(2179-2181)Agt>Tgt	p.S727C	HUWE1_ENST00000218328.8_Missense_Mutation_p.S727C|HUWE1_ENST00000262854.6_Missense_Mutation_p.S727C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	727					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	p.S727C(4)		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						TCATCCTCACTAGAGGCTTCT	0.488000													37	37					0	0	0.025465	0	0
RYR2	6262	broad.mit.edu	37	1	237802406	237802406	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:237802406G>A	ENST00000366574.2	+	46	7337	c.7020G>A	c.(7018-7020)ggG>ggA	p.G2340G	RYR2_ENST00000360064.6_Silent_p.G2338G|RYR2_ENST00000542537.1_Silent_p.G2324G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2340	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	p.G2338G(2)		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)			GAGAAGGTGGGAATGGGCTTC	0.502000													19	46					0	0	0.012319	0	0
PRODH	5625	broad.mit.edu	37	22	18905888	18905888	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:18905888C>T	ENST00000357068.6	-	11	1633	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E	PRODH_ENST00000420436.1_Silent_p.E348E|PRODH_ENST00000334029.2_Silent_p.E348E	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	456				AE -> Q (in Ref. 7; AAC39529).	glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	p.E456E(2)		breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	CATAGCCGATCTCTGCCGCAC	0.667000													23	121					0	0	0.014323	0	0
UFL1	23376	broad.mit.edu	37	6	96999336	96999336	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:96999336T>A	ENST00000369278.4	+	16	1912	c.1846T>A	c.(1846-1848)Tca>Aca	p.S616T		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	616					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										AAGTAAATTATCAGAAGAAAC	0.299000													5	112					0	0	0.014758	0	0
ITGA1	3672	broad.mit.edu	37	5	52204758	52204758	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:52204758A>T	ENST00000282588.6	+	13	1944	c.1486A>T	c.(1486-1488)Aca>Tca	p.T496S		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	496					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.T496S(1)		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)				TATTTTAACAACAACTGACAT	0.383000													48	85					0	0	0.014410	0	0
OR7C2	26658	broad.mit.edu	37	19	15052376	15052376	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:15052376C>T	ENST00000248072.3	+	1	76	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L26F(2)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CATGCAGCTTCTCCTCCATGG	0.537000													66	66					0	0	0.014410	0	0
NXPE4	54827	broad.mit.edu	37	11	114453150	114453150	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:114453150G>C	ENST00000375478.3	-	3	870	c.690C>G	c.(688-690)tgC>tgG	p.C230W	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4									p.C230W(2)									CCAGGTACTGGCACAATTCAG	0.478000													23	211					0	0	0.016522	0	0
PNCK	139728	broad.mit.edu	37	X	152938064	152938064	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:152938064C>A	ENST00000393831.2	-	3	591	c.157G>T	c.(157-159)Ggc>Tgc	p.G53C	PNCK_ENST00000370142.1_Missense_Mutation_p.G53C|PNCK_ENST00000340888.3_Missense_Mutation_p.G53C|PNCK_ENST00000447676.2_Missense_Mutation_p.G136C|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370145.4_Missense_Mutation_p.G70C|PNCK_ENST00000370150.1_Missense_Mutation_p.G53C	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	53	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.G82C(1)|p.G53C(1)|p.G70C(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCCTTGCCCCGGAGGGCC	0.701000													27	96					2.12542e-12	2.49893e-12	0.006320	1	0
HNRNPK	3190	broad.mit.edu	37	9	86592668	86592668	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:86592668T>C	ENST00000376263.3	-	4	315	c.92A>G	c.(91-93)cAa>cGa	p.Q31R	HNRNPK_ENST00000376281.4_Missense_Mutation_p.Q31R|HNRNPK_ENST00000376264.2_Missense_Mutation_p.Q31R|HNRNPK_ENST00000351839.3_Missense_Mutation_p.Q31R|HNRNPK_ENST00000360384.5_Missense_Mutation_p.Q31R	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	31	Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|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|single-stranded DNA binding	p.Q31R(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TTTAAATGCTTGTTCCTCTTC	0.358000													17	63					0	0	0.006122	0	0
MYH4	4622	broad.mit.edu	37	17	10369629	10369629	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:10369629C>T	ENST00000255381.2	-	4	419	c.309G>A	c.(307-309)ctG>ctA	p.L103L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	103	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.L103L(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGAGGTTATACAGCACAGCAG	0.458000													50	73					0	0	0.014410	0	0
GPKOW	27238	broad.mit.edu	37	X	48973451	48973451	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:48973451C>T	ENST00000156109.5	-	6	924	c.846G>A	c.(844-846)gtG>gtA	p.V282V		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	282						nucleus	nucleic acid binding	p.V282V(2)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CACTAACAGTCACCACCCGGC	0.547000													173	705					0	0	0.014410	0	0
THOC2	57187	broad.mit.edu	37	X	122769970	122769970	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:122769970G>C	ENST00000245838.8	-	19	2009	c.1978C>G	c.(1978-1980)Ctt>Gtt	p.L660V	THOC2_ENST00000355725.4_Missense_Mutation_p.L660V|THOC2_ENST00000491737.1_Missense_Mutation_p.L545V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	660					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.L660V(1)|p.L581V(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TACTGAAGAAGACCAGCAAGA	0.333000													7	108					0	0	0.001984	0	0
HAPLN3	145864	broad.mit.edu	37	15	89424754	89424754	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:89424754G>C	ENST00000359595.3	-	3	541	c.327C>G	c.(325-327)caC>caG	p.H109Q	HAPLN3_ENST00000562889.1_Missense_Mutation_p.H171Q	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	109	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.H109Q(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAAAGGAGCGGTGCCTCAGCC	0.657000													25	97					0	0	0.018920	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746613	77746613	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:77746613T>A	ENST00000409088.3	-	3	796	c.382A>T	c.(382-384)Aca>Tca	p.T128S	LRRTM4_ENST00000409282.1_Missense_Mutation_p.T129S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.T129S|LRRTM4_ENST00000409093.1_Missense_Mutation_p.T128S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.T128S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	128						integral to membrane		p.T128S(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGGTGAAATGTTTTATTGTGC	0.378000													25	68					0	0	0.016522	0	0
WFS1	7466	broad.mit.edu	37	4	6303098	6303098	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:6303098G>T	ENST00000226760.1	+	8	1746	c.1576G>T	c.(1576-1578)Ggc>Tgc	p.G526C	WFS1_ENST00000503569.1_Missense_Mutation_p.G526C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	526					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	p.G526F(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GAATTTCAAGGGCACCTACTG	0.602000													24	156					1.22574e-08	1.36474e-08	0.014323	1	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	41					0	0	0.009096	0	0
PAPSS2	9060	broad.mit.edu	37	10	89475536	89475536	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:89475536C>G	ENST00000361175.4	+	7	1170	c.801C>G	c.(799-801)ccC>ccG	p.P267P	PAPSS2_ENST00000427144.2_Silent_p.P271P|PAPSS2_ENST00000456849.1_Silent_p.P267P	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	267					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	p.P267P(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GGGCCACTCCCCTCAAAGGTT	0.438000													8	45					0	0	0.003080	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293630	71293630	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:71293630G>A	ENST00000398530.1	-	1	291	c.254C>T	c.(253-255)tCc>tTc	p.S85F	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	85	6 X 4 AA repeats of C-C-X-P.					keratin filament		p.S85F(2)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACAGCAGTTGGACTGGGAGCA	0.622000													40	106					0	0	0.023175	0	0
RGS5	8490	broad.mit.edu	37	1	163172591	163172591	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:163172591C>A	ENST00000313961.5	-	1	312	c.35G>T	c.(34-36)tGc>tTc	p.C12F	RGS5_ENST00000530507.1_Missense_Mutation_p.C12F|RGS5_ENST00000367903.3_Intron|RGS5_ENST00000534288.1_Intron|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000527988.1_5'UTR	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	12					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.C12F(2)|p.C12Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CCTTTCCAGGCATGAGTGGGG	0.448000													16	44					6.49762e-13	7.69937e-13	0.006122	1	0
LRIF1	55791	broad.mit.edu	37	1	111494316	111494316	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:111494316T>C	ENST00000369763.4	-	2	1580	c.1190A>G	c.(1189-1191)cAg>cGg	p.Q397R	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.Q397R(2)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ACTCACTGTCTGTAACGTGTC	0.393000													69	367					0	0	0.014410	0	0
OR1M1	125963	broad.mit.edu	37	19	9203967	9203967	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:9203967G>T	ENST00000429566.3	+	1	113	c.47G>T	c.(46-48)gGa>gTa	p.G16V		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16V(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATCCTCCTGGGACTCTCAGAA	0.507000													27	33					1.2476e-16	1.54874e-16	0.006320	1	0
WDR96	80217	broad.mit.edu	37	10	105903388	105903388	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:105903388T>G	ENST00000357060.3	-	32	4069	c.3954A>C	c.(3952-3954)aaA>aaC	p.K1318N	WDR96_ENST00000428666.1_Missense_Mutation_p.K1290N	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1318								p.K1318N(2)		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						GCGTTTTCTGTTTGGAAATCC	0.413000													13	43					0	0	0.013537	0	0
GPKOW	27238	broad.mit.edu	37	X	48973405	48973405	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:48973405C>T	ENST00000156109.5	-	6	970	c.892G>A	c.(892-894)Gac>Aac	p.D298N		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	298						nucleus	nucleic acid binding	p.D298N(2)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						GTGTTCTTGTCAAACTCCTGC	0.567000													110	584					0	0	0.014410	0	0
PPY	5539	broad.mit.edu	37	17	42018943	42018943	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:42018943G>A	ENST00000591228.1	-	2	167	c.80C>T	c.(79-81)gCc>gTc	p.A27V	PPY_ENST00000225992.3_Missense_Mutation_p.A27V|PPY_ENST00000587006.1_Missense_Mutation_p.A27V			P01298	PAHO_HUMAN	pancreatic polypeptide	27					digestion|protein secretion	extracellular region	hormone activity	p.A27V(1)		large_intestine(2)|lung(1)|skin(1)	4		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGCTCCCTGGGCACCCAGCAG	0.612000													13	69					0	0	0.020292	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035851	110035851	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:110035851C>T	ENST00000453089.2	+	5	2829	c.1948C>T	c.(1948-1950)Cac>Tac	p.H650Y	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.H682Y|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.H681Y			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	681							endonuclease activity|nucleic acid binding|zinc ion binding	p.H681Y(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCAGAATTTCCACGACCCCTT	0.547000													71	485					0	0	0.014410	0	0
KIAA1109	84162	broad.mit.edu	37	4	123165092	123165092	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:123165092C>T	ENST00000264501.4	+	31	5199	c.4826C>T	c.(4825-4827)cCa>cTa	p.P1609L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1609L|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1609L			Q2LD37	K1109_HUMAN	KIAA1109	1609					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.P1609L(2)		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						CTGGATCAACCAGTGTCCCAG	0.408000													14	91					0	0	0.016723	0	0
WASH4P	374677	broad.mit.edu	37	16	66940	66940	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:66940G>A	ENST00000326592.9	-	5	1354	c.696C>T	c.(694-696)agC>agT	p.S232S															p.S232S(1)									GCTCTCTCTTGCTGATGGACA	0.597000													8	41					0	0	0.016723	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767721	77767721	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:77767721C>A	ENST00000521891.2	+	10	9012	c.8564C>A	c.(8563-8565)cCt>cAt	p.P2855H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2829H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2810H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2810H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2810						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P2839H(2)		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)			GCAACCACACCTACCACGGAG	0.473000										HNSCC(33;0.089)			26	54					3.08376e-08	3.40837e-08	0.018920	1	0
SLC1A2	6506	broad.mit.edu	37	11	35333830	35333830	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:35333830T>C	ENST00000278379.3	-	4	758	c.476A>G	c.(475-477)aAt>aGt	p.N159S	SLC1A2_ENST00000395753.1_Missense_Mutation_p.N150S|SLC1A2_ENST00000606205.1_Missense_Mutation_p.N159S|SLC1A2_ENST00000395750.1_Missense_Mutation_p.N150S	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	159					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.N159S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CACTTCATCATTCTTCTTCCC	0.512000													48	401					0	0	0.014410	0	0
MED1	5469	broad.mit.edu	37	17	37565297	37565297	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:37565297G>C	ENST00000300651.6	-	17	3400	c.3177C>G	c.(3175-3177)ccC>ccG	p.P1059P	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1059	Interaction with ESR1.				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	p.P1059P(2)		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)		TTTTGGGAATGGGTGGTGTGG	0.507000										HNSCC(31;0.082)			307	187					0	0	0.014410	0	0
COX7A2L	9167	broad.mit.edu	37	2	42578436	42578436	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:42578436T>A	ENST00000378669.1	-	4	1097	c.268A>T	c.(268-270)Acc>Tcc	p.T90S	COX7A2L_ENST00000482463.1_5'UTR|COX7A2L_ENST00000234301.2_Missense_Mutation_p.T90S			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	90					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	p.T90S(2)		lung(4)	4						AGCGCCATGGTGGTCCGGTAA	0.522000													28	53					0	0	0.007291	0	0
DPP4	1803	broad.mit.edu	37	2	162868405	162868405	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:162868405C>G	ENST00000360534.3	-	20	2290	c.1730G>C	c.(1729-1731)aGc>aCc	p.S577T	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	577					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	p.S577T(1)		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)	GCCATCAAAGCTAGCTACTAT	0.428000													11	223					0	0	0.010729	0	0
EML4	27436	broad.mit.edu	37	2	42530318	42530318	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:42530318A>G	ENST00000318522.5	+	15	1978	c.1716A>G	c.(1714-1716)cgA>cgG	p.R572R	EML4_ENST00000401738.3_Silent_p.R583R|EML4_ENST00000453191.2_5'UTR|EML4_ENST00000402711.2_Silent_p.R514R	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	572					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.R572R(2)	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						GCACATCACGAAACTTTATTT	0.348000			T	ALK	NSCLC								28	165					0	0	0.007291	0	0
MAN2B1	4125	broad.mit.edu	37	19	12758269	12758269	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:12758269G>C	ENST00000597692.1	-	2	366	c.367C>G	c.(367-369)Ctt>Gtt	p.L123V	MAN2B1_ENST00000456935.2_Silent_p.T936T|MAN2B1_ENST00000221363.4_Silent_p.T935T																							TCAAGTTCAAGGTAACGGGGG	0.577000													8	169					0	0	0.004482	0	0
SYAP1	94056	broad.mit.edu	37	X	16773137	16773137	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:16773137C>T	ENST00000380155.3	+	6	738	c.645C>T	c.(643-645)ctC>ctT	p.L215L		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	215								p.L215L(2)		endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					CAGCCCAGCTCACGGCCCTGG	0.512000													45	41					0	0	0.014410	0	0
ENPEP	2028	broad.mit.edu	37	4	111436540	111436540	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:111436540C>T	ENST00000265162.5	+	8	1793	c.1451C>T	c.(1450-1452)tCt>tTt	p.S484F	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	484					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.S484F(2)		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)	TAGGGATCTTCTATTTTGAGA	0.299000													20	53					0	0	0.006320	0	0
TTC21A	199223	broad.mit.edu	37	3	39178787	39178787	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:39178787G>T	ENST00000301819.6	+	25	3560	c.3383G>T	c.(3382-3384)cGg>cTg	p.R1128L	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Missense_Mutation_p.R1127L|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1079L	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1127							binding	p.R1128L(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACCCAGCTGCGGCTGCTGCAG	0.612000													22	22					6.38683e-12	7.4513e-12	0.008361	1	0
NRXN3	9369	broad.mit.edu	37	14	80328143	80328143	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:80328143T>C	ENST00000281127.7	+	6	2014	c.1135T>C	c.(1135-1137)Tac>Cac	p.Y379H	NRXN3_ENST00000428277.2_Missense_Mutation_p.Y406H|NRXN3_ENST00000557594.1_Missense_Mutation_p.Y584H|NRXN3_ENST00000335750.5_Missense_Mutation_p.Y1008H|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Missense_Mutation_p.Y1008H	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	584					angiogenesis|cell adhesion	integral to membrane		p.Y1008H(2)|p.Y406H(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTACGCCATGTACAAGTACAG	0.587000													19	56					0	0	0.006122	0	0
LRRCC1	85444	broad.mit.edu	37	8	86042277	86042277	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:86042277A>G	ENST00000414626.2	+	10	2579	c.1690A>G	c.(1690-1692)Aaa>Gaa	p.K564E	LRRCC1_ENST00000360375.3_Missense_Mutation_p.K584E			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	584					cell division|mitosis	centriole|nucleus		p.K564E(2)|p.K584E(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TCTTGCATTGAAAGAACAGGA	0.358000													17	101					0	0	0.007413	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457293	110457293	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:110457293C>A	ENST00000378402.5	+	38	5299	c.5195C>A	c.(5194-5196)cCt>cAt	p.P1732H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1732	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P1734H(2)		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)			CATGGAGTGCCTGCCCAGTGC	0.433000										HNSCC(38;0.096)			150	210					8.82723e-70	1.27112e-69	0.014410	1	0
MYH15	22989	broad.mit.edu	37	3	108189547	108189547	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:108189547C>A	ENST00000273353.3	-	14	1497	c.1441G>T	c.(1441-1443)Gag>Tag	p.E481*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	481	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						ACACTTACCTCAAGGATTTCA	0.418000													6	59					0.0215528	0.0219004	0.021553	1	0
BAI3	577	broad.mit.edu	37	6	70071247	70071247	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:70071247T>A	ENST00000370598.1	+	29	4903	c.4082T>A	c.(4081-4083)aTg>aAg	p.M1361K	BAI3_ENST00000238918.8_Missense_Mutation_p.M567K|BAI3_ENST00000546190.1_Missense_Mutation_p.M325K	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1361					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.M1361K(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAGTTCAATATGAACTTAGAG	0.433000													33	141					0	0	0.015359	0	0
IL10RA	3587	broad.mit.edu	37	11	117870171	117870171	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:117870171C>A	ENST00000227752.3	+	7	1672	c.1552C>A	c.(1552-1554)Cag>Aag	p.Q518K	IL10RA_ENST00000545409.1_Missense_Mutation_p.Q369K|IL10RA_ENST00000541785.1_Missense_Mutation_p.Q498K|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	518						integral to membrane|plasma membrane	interleukin-10 receptor activity	p.Q518K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ACAGTGGAACCAGCCCACTGA	0.577000													59	69					2.47907e-22	3.23692e-22	0.014410	1	0
NEO1	4756	broad.mit.edu	37	15	73528761	73528761	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:73528761C>G	ENST00000339362.5	+	9	1812	c.1365C>G	c.(1363-1365)atC>atG	p.I455M	NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000261908.6_Missense_Mutation_p.I455M|NEO1_ENST00000560262.1_Missense_Mutation_p.I455M|NEO1_ENST00000558964.1_Missense_Mutation_p.I455M			Q92859	NEO1_HUMAN	neogenin 1	455	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		p.I455M(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCCGCTTCATCAAATTGACGT	0.552000													55	188					0	0	0.014410	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213445953	213445953	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:213445953G>C	ENST00000366960.3	+	15	3327	c.3177G>C	c.(3175-3177)gtG>gtC	p.V1059V	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Silent_p.V847V|RPS6KC1_ENST00000366959.3_Silent_p.V1047V	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	1059					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	p.V1059V(1)		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)		TTACCCCTGTGGATTGGGCAG	0.458000													9	126					0	0	0.006214	0	0
CACNA2D1	781	broad.mit.edu	37	7	81746386	81746386	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:81746386T>A	ENST00000356860.3	-	6	838	c.500A>T	c.(499-501)cAt>cTt	p.H167L	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.H167L|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.H167L	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	167						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)	AGTAGGAATATGGACTGCTGC	0.423000													6	201					0	0	0.021553	0	0
FASTKD2	22868	broad.mit.edu	37	2	207635937	207635937	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:207635937G>C	ENST00000236980.6	+	4	1261	c.913G>C	c.(913-915)Gaa>Caa	p.E305Q	FASTKD2_ENST00000403094.3_Missense_Mutation_p.E305Q|FASTKD2_ENST00000402774.3_Missense_Mutation_p.E305Q	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	305					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.E305Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TTGGAAAATAGAAGATGTCTT	0.308000													16	43					0	0	0.004990	0	0
LAMB4	22798	broad.mit.edu	37	7	107743504	107743504	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:107743504G>A	ENST00000388781.3	-	10	1248	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S	LAMB4_ENST00000205386.4_Missense_Mutation_p.P389S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P389S|LAMB4_ENST00000414450.2_Missense_Mutation_p.P389S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	389	Laminin EGF-like 2.				cell adhesion	basement membrane		p.P389S(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACGCGTAGGGATCTGAGATG	0.597000													35	45					0	0	0.019004	0	0
DYTN	391475	broad.mit.edu	37	2	207527696	207527696	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:207527696G>T	ENST00000452335.2	-	11	1680	c.1564C>A	c.(1564-1566)Ctg>Atg	p.L522M		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	522						plasma membrane	zinc ion binding	p.L522M(4)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCTTCCTCCAGCTCATCCTTT	0.463000													115	221					3.45881e-44	4.85132e-44	0.014410	1	0
ATRN	8455	broad.mit.edu	37	20	3529820	3529820	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:3529820C>A	ENST00000262919.5	+	6	1015	c.947C>A	c.(946-948)cCt>cAt	p.P316H	ATRN_ENST00000446916.2_Missense_Mutation_p.P316H	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	316					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.P316H(2)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTATTAGGTCCTGGATGTTCA	0.333000													62	119					1.80625e-27	2.41259e-27	0.014410	1	0
SLC35E3	55508	broad.mit.edu	37	12	69140237	69140237	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:69140237G>T	ENST00000398004.2	+	1	352	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	27						integral to membrane		p.C27F(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			GTGTCCATCTGCATTGTGTTC	0.592000													25	56					3.28513e-13	3.90496e-13	0.021523	1	0
ZNF578	147660	broad.mit.edu	37	19	53014551	53014551	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:53014551G>A	ENST00000421239.2	+	6	1161	c.917G>A	c.(916-918)cGt>cAt	p.R306H	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ACATGCCATCGTAGATGTCAC	0.433000													4	128					0	0	0.014758	0	0
KCNA2	3737	broad.mit.edu	37	1	111147346	111147346	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:111147346T>C	ENST00000485317.1	-	3	732	c.59A>G	c.(58-60)cAg>cGg	p.Q20R	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.Q20R|KCNA2_ENST00000369770.3_Missense_Mutation_p.Q20R|KCNA2_ENST00000316361.4_Missense_Mutation_p.Q20R			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	20						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.Q20R(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		ATAGGTGTCCTGTGGGTGCCC	0.587000													108	242					0	0	0.014410	0	0
DHX37	57647	broad.mit.edu	37	12	125435313	125435313	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:125435313C>A	ENST00000308736.2	-	22	3004	c.2906G>T	c.(2905-2907)aGc>aTc	p.S969I	DHX37_ENST00000544745.1_Missense_Mutation_p.S756I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	969							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.S969I(2)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AAGGACGGAGCTGGGGTGGAT	0.567000													158	120					1.08359e-82	1.56634e-82	0.014410	1	0
SPTB	6710	broad.mit.edu	37	14	65246605	65246605	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:65246605C>G	ENST00000389722.3	-	20	4364	c.4311G>C	c.(4309-4311)gaG>gaC	p.E1437D	SPTB_ENST00000542895.1_Missense_Mutation_p.E1437D|SPTB_ENST00000389720.3_Missense_Mutation_p.E1437D|SPTB_ENST00000389721.5_Missense_Mutation_p.E1437D|SPTB_ENST00000556626.1_Missense_Mutation_p.E1437D	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1437					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.E1437D(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGGCAAACAGCTCCCCCAGCT	0.597000													54	281					0	0	0.014410	0	0
SI	6476	broad.mit.edu	37	3	164712076	164712076	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:164712076C>T	ENST00000264382.3	-	41	4872	c.4810G>A	c.(4810-4812)Ggt>Agt	p.G1604S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1604	Sucrase.				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	p.G1604S(2)		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)	ACAGTGCCACCATTAGCATGA	0.338000										HNSCC(35;0.089)			16	77					0	0	0.028581	0	0
PIGR	5284	broad.mit.edu	37	1	207112588	207112588	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:207112588C>A	ENST00000356495.4	-	3	447	c.264G>T	c.(262-264)ccG>ccT	p.P88P		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	88	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding	p.P88P(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGCCGTTCTCCGGGAAGTTGG	0.592000													16	91					1.3612e-06	1.46591e-06	0.024245	1	0
SLC34A2	10568	broad.mit.edu	37	4	25677973	25677973	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:25677973G>T	ENST00000382051.3	+	13	1725	c.1675G>T	c.(1675-1677)Ggg>Tgg	p.G559W	SLC34A2_ENST00000504570.1_Missense_Mutation_p.G558W|SLC34A2_ENST00000503434.1_Missense_Mutation_p.G558W	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	559					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.G559W(2)	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)				GGTTGGTGTCGGGGTTCCCGT	0.597000			T	ROS1	NSCLC								30	126					1.61788e-16	1.99856e-16	0.012213	1	0
C2orf48	348738	broad.mit.edu	37	2	10350487	10350487	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:10350487G>A	ENST00000381786.3	+	4	533	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	82								p.A82T(2)		endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		GAGAAGCCCAGCCCTCATTGT	0.522000													57	99					0	0	0.014410	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63888812	63888812	+	Splice_Site	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:63888812C>G	ENST00000337537.3	-	4	957	c.354_splice	c.e4-1	p.V119_splice	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Splice_Site_p.V119_splice|PPP2R5E_ENST00000422769.2_Splice_Site_p.V43_splice	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	119					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.V119L(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		TTGCAAGATACCTAAAAATAA	0.448000													7	82					0	0	0.001984	0	0
ANO4	121601	broad.mit.edu	37	12	101295492	101295492	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:101295492C>T	ENST00000538618.1	+	4	427	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						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						TGTGGCAAGCCGCCCAGCGTC	0.498000										HNSCC(74;0.22)			32	85					0	0	0.010818	0	0
COL15A1	1306	broad.mit.edu	37	9	101818644	101818644	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:101818644G>T	ENST00000375001.3	+	35	3718	c.3295G>T	c.(3295-3297)Ggg>Tgg	p.G1099W		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1099	Triple-helical region 8 (COL8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G1099W(2)		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)				TGGGCCACCGGGGCCCCCGGG	0.622000													58	48					5.82218e-30	7.84593e-30	0.014410	1	0
PDCD11	22984	broad.mit.edu	37	10	105194078	105194078	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:105194078C>G	ENST00000369797.3	+	24	3732	c.3638C>G	c.(3637-3639)tCc>tGc	p.S1213C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1213	S1 motif 10.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	p.S1213C(1)		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)		CCAGATTCCTCCAAGACCCTC	0.552000													9	211					0	0	0.006214	0	0
HEATR5B	54497	broad.mit.edu	37	2	37302747	37302747	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:37302747G>A	ENST00000233099.5	-	5	573	c.478C>T	c.(478-480)Cta>Tta	p.L160L	HEATR5B_ENST00000354531.2_Silent_p.L160L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	160							binding	p.L160L(2)		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)				ACTTTCTGTAGACTCATTAAG	0.388000													48	173					0	0	0.014410	0	0
NARS2	79731	broad.mit.edu	37	11	78204159	78204159	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:78204159T>C	ENST00000281038.5	-	7	1147	c.772A>G	c.(772-774)Atg>Gtg	p.M258V	NARS2_ENST00000528850.1_Missense_Mutation_p.M31V	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	258					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	p.M258V(2)		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)	GCTTCTATCATATAAAACTCT	0.393000													57	84					0	0	0.014410	0	0
OPCML	4978	broad.mit.edu	37	11	132307138	132307138	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:132307138C>T	ENST00000331898.7	-	4	1220	c.642G>A	c.(640-642)cgG>cgA	p.R214R	OPCML_ENST00000524381.1_Silent_p.R207R|OPCML_ENST00000374778.4_Silent_p.R173R|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.R214R	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	214	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TTTTTACTTTCCGCACATCGG	0.542000													6	279					0	0	0.001984	0	0
KIF24	347240	broad.mit.edu	37	9	34257209	34257209	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:34257209T>G	ENST00000379166.2	-	11	2515	c.2396A>C	c.(2395-2397)cAg>cCg	p.Q799P	KIF24_ENST00000379174.3_Missense_Mutation_p.Q665P|KIF24_ENST00000402558.2_Missense_Mutation_p.Q799P|KIF24_ENST00000345050.2_Missense_Mutation_p.Q665P	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	799					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.Q281P(2)|p.Q799P(2)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ATTCGTGAGCTGACCCTCTGG	0.478000													69	157					0	0	0.014410	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703714	103703714	+	Missense_Mutation	SNP	G	G	T	rs140050923		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:103703714G>T	ENST00000245312.3	-	4	1250	c.654C>A	c.(652-654)agC>agA	p.S218R		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	218					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.S218R(2)		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)					TGATCCAGGCGCTTTGGTACA	0.478000													61	63					7.55815e-43	1.05424e-42	0.014410	1	0
HMGCS1	3157	broad.mit.edu	37	5	43297159	43297159	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:43297159T>C	ENST00000325110.6	-	5	890	c.684A>G	c.(682-684)gcA>gcG	p.A228A	HMGCS1_ENST00000433297.2_Silent_p.A228A	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	228					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	p.A228A(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						AGCGGTCTAATGCACTGAGGT	0.413000													65	174					0	0	0.014410	0	0
KIAA2022	340533	broad.mit.edu	37	X	73964291	73964291	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:73964291G>C	ENST00000373468.1	-	3	752	c.101C>G	c.(100-102)gCa>gGa	p.A34G	KIAA2022_ENST00000055682.5_Missense_Mutation_p.A34G			Q5QGS0	K2022_HUMAN	KIAA2022	34					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.A34G(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGACTTCATTGCCACATCCTG	0.453000													6	12					0	0	0.021553	0	0
CCRL2	9034	broad.mit.edu	37	3	46450373	46450373	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:46450373C>G	ENST00000399036.3	+	2	1155	c.803C>G	c.(802-804)tCc>tGc	p.S268C	ACKR5_ENST00000400880.3_Missense_Mutation_p.S268C|ACKR5_ENST00000400882.2_Missense_Mutation_p.S268C|ACKR5_ENST00000357392.4_Missense_Mutation_p.S280C	NM_003965.4	NP_003956.2																					GAACACTTCTCCCTGAGTGAC	0.463000													11	587					0	0	0.008291	0	0
CDHR1	92211	broad.mit.edu	37	10	85968522	85968522	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:85968522C>T	ENST00000372117.3	+	12	1308	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	CDHR1_ENST00000440770.2_Missense_Mutation_p.P161L|CDHR1_ENST00000332904.3_Missense_Mutation_p.P402L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	402	Cadherin 4.				homophilic cell adhesion		calcium ion binding|receptor activity	p.P402L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGGTGGGACCCAGGGGCATC	0.443000													6	44					0	0	0.001984	0	0
EIF3H	8667	broad.mit.edu	37	8	117658741	117658741	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:117658741C>A	ENST00000521861.1	-	7	953	c.930G>T	c.(928-930)ccG>ccT	p.P310P	EIF3H_ENST00000276682.4_Silent_p.P324P	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	310					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.P310P(2)		large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					TCCTGGCAGGCGGCTGTGGTG	0.552000													86	308					1.14225e-51	1.62932e-51	0.014410	1	0
ACSM1	116285	broad.mit.edu	37	16	20636757	20636757	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:20636757C>A	ENST00000219151.4	-	12	1678	c.468G>T	c.(466-468)ccG>ccT	p.P156P	ACSM1_ENST00000307493.4_Silent_p.P505P|ACSM1_ENST00000520010.1_Silent_p.P505P			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	505					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	p.P505P(2)|p.P156P(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCCCTCGAATCGGGTCTGGGC	0.602000													25	52					1.12875e-08	1.25861e-08	0.006320	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54925558	54925558	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:54925558C>G	ENST00000293373.6	+	25	2809	c.2730C>G	c.(2728-2730)atC>atG	p.I910M	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I860M	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	910					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	p.I910M(2)		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						GCATGACCATCATTGGGGTTA	0.488000													31	90					0	0	0.015359	0	0
ETNK1	55500	broad.mit.edu	37	12	22824222	22824222	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:22824222T>C	ENST00000266517.4	+	5	1073	c.984T>C	c.(982-984)atT>atC	p.I328I		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	328					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TACAGTTCATTGATTATGAAT	0.299000													8	701					0	0	0.006214	0	0
DLG2	1740	broad.mit.edu	37	11	83173087	83173087	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:83173087G>C	ENST00000398309.2	-	22	2934	c.2464C>G	c.(2464-2466)Cga>Gga	p.R822G	DLG2_ENST00000543673.1_Missense_Mutation_p.R927G|DLG2_ENST00000426717.2_Missense_Mutation_p.R286G|DLG2_ENST00000532653.1_Missense_Mutation_p.R804G|DLG2_ENST00000524982.1_Missense_Mutation_p.R818G|DLG2_ENST00000531015.1_Missense_Mutation_p.R789G|DLG2_ENST00000280241.8_Missense_Mutation_p.R861G|DLG2_ENST00000418306.2_Missense_Mutation_p.R701G|DLG2_ENST00000330014.6_Missense_Mutation_p.R743G|DLG2_ENST00000376104.2_Missense_Mutation_p.R927G|DLG2_ENST00000404783.3_Missense_Mutation_p.R300G|DLG2_ENST00000376106.3_Missense_Mutation_p.R286G|DLG2_ENST00000537455.1_Missense_Mutation_p.R572G	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	822	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.R927G(2)|p.R861G(2)|p.R701G(2)|p.R822G(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTAATTGCTCGATCATAGGTT	0.378000													16	91					0	0	0.006122	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5969418	5969418	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:5969418G>T	ENST00000284898.6	-	18	1815	c.1615C>A	c.(1615-1617)Caa>Aaa	p.Q539K	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.Q530K|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.Q343K|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.Q539K	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	539					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q539K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CGTGCCACTTGGCTGGCCCGG	0.637000													11	84					4.68919e-08	5.16016e-08	0.008291	1	0
DCHS1	8642	broad.mit.edu	37	11	6661983	6661983	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:6661983C>A	ENST00000299441.3	-	2	1273	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	288	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G288W(2)		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)		GTCACAGCCCCATTGACACCA	0.592000													47	127					2.77807e-22	3.62107e-22	0.013114	1	0
WDR35	57539	broad.mit.edu	37	2	20153619	20153619	+	Missense_Mutation	SNP	C	C	A	rs146380332		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:20153619C>A	ENST00000345530.3	-	13	1524	c.1409G>T	c.(1408-1410)cGg>cTg	p.R470L	WDR35_ENST00000281405.4_Missense_Mutation_p.R459L|WDR35_ENST00000416055.2_Missense_Mutation_p.R35L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	470								p.R470L(2)|p.R470Q(1)		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)					TTTTCGAGACCGTGTGATCTG	0.378000													35	203					2.68265e-12	3.1492e-12	0.013726	1	0
USH2A	7399	broad.mit.edu	37	1	216052133	216052133	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:216052133G>C	ENST00000366943.2	-	42	8917	c.8531C>G	c.(8530-8532)cCa>cGa	p.P2844R	USH2A_ENST00000307340.3_Missense_Mutation_p.P2844R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2844	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P2844R(2)		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)		TGGCTTGGATGGTGGTTGCCA	0.433000										HNSCC(13;0.011)			23	59					0	0	0.016522	0	0
ILDR1	286676	broad.mit.edu	37	3	121712504	121712504	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:121712504C>A	ENST00000273691.3	-	6	1065	c.960G>T	c.(958-960)ctG>ctT	p.L320L	ILDR1_ENST00000462014.1_Silent_p.L332L|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Silent_p.L364L|ILDR1_ENST00000393631.1_Silent_p.L275L	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	364						cytosol|integral to membrane|plasma membrane	receptor activity	p.L320L(2)|p.L364L(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCCCCTCCCTCAGATCCCAGG	0.597000													16	76					2.32078e-09	2.61868e-09	0.024245	1	0
GPR115	221393	broad.mit.edu	37	6	47682493	47682493	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:47682493C>T	ENST00000283303.2	+	6	1770	c.1512C>T	c.(1510-1512)gtC>gtT	p.V504V	GPR115_ENST00000327753.3_Silent_p.V504V|GPR115_ENST00000371220.1_Silent_p.V561V	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	504					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V504V(2)		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						GAATATTGGTCATTTTCCGTA	0.423000													23	452					0	0	0.014323	0	0
GCAT	23464	broad.mit.edu	37	22	38212280	38212280	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:38212280G>T	ENST00000323205.6	+	8	1201	c.1138G>T	c.(1138-1140)Ggt>Tgt	p.G380C	GCAT_ENST00000248924.6_Missense_Mutation_p.G354C	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	354					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.G354C(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGTGATGCTGGGTGATGCCCG	0.577000													18	115					1.67942e-08	1.86164e-08	0.006122	1	0
CRY1	1407	broad.mit.edu	37	12	107393851	107393851	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:107393851C>T	ENST00000008527.5	-	6	1561	c.694G>A	c.(694-696)Gca>Aca	p.A232T		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	232	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCAAAATTTGCCACCCAAGCC	0.348000													4	82					0	0	0.009096	0	0
TBX18	9096	broad.mit.edu	37	6	85446428	85446428	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:85446428G>C	ENST00000369663.5	-	8	2136	c.1799C>G	c.(1798-1800)tCt>tGt	p.S600C	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	600					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S600C(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGATACTTGAGATGATGACAG	0.413000													35	58					0	0	0.013726	0	0
UNC13C	440279	broad.mit.edu	37	15	54306827	54306827	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:54306827G>T	ENST00000545554.1	+	1	1727	c.1727G>T	c.(1726-1728)aGc>aTc	p.S576I	UNC13C_ENST00000537900.1_Missense_Mutation_p.S576I|UNC13C_ENST00000260323.11_Missense_Mutation_p.S576I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	576					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S576I(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTAATGGAAGCTCTCTCCTG	0.433000													13	51					2.61681e-11	3.02494e-11	0.020292	1	0
SAT1	6303	broad.mit.edu	37	X	23801932	23801932	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:23801932G>A	ENST00000379270.4	+	3	313	c.134G>A	c.(133-135)gGt>gAt	p.G45D	SAT1_ENST00000379253.3_Missense_Mutation_p.G45D|SAT1_ENST00000379251.3_Missense_Mutation_p.G75D|SAT1_ENST00000379254.1_Intron|SAT1_ENST00000489394.1_3'UTR	NM_002970.2	NP_002961.1	P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	45	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding	p.G75D(2)|p.G45D(2)		breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	CTAGAAGATGGTTTTGGAGAG	0.587000													34	27					0	0	0.012213	0	0
ROBO2	6092	broad.mit.edu	37	3	77600017	77600017	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:77600017G>T	ENST00000461745.1	+	8	2008	c.1108G>T	c.(1108-1110)Gtg>Ttg	p.V370L	ROBO2_ENST00000332191.8_Missense_Mutation_p.V370L|ROBO2_ENST00000487694.3_Missense_Mutation_p.V386L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	370	Ig-like C2-type 4.				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.V386L(2)|p.V370L(2)		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)		TAGATGCTCAGTGTCACCAAC	0.443000													48	62					4.85424e-44	6.79594e-44	0.014410	1	0
DMXL1	1657	broad.mit.edu	37	5	118525452	118525452	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:118525452G>A	ENST00000311085.8	+	29	7265	c.7185G>A	c.(7183-7185)ccG>ccA	p.P2395P	DMXL1_ENST00000539542.1_Silent_p.P2395P	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2395										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)		GTTTTAGGCCGTCAAAAATGT	0.408000													4	206					0	0	0.009096	0	0
POU2F3	25833	broad.mit.edu	37	11	120175882	120175882	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:120175882G>A	ENST00000260264.4	+	7	628	c.594G>A	c.(592-594)aaG>aaA	p.K198K	POU2F3_ENST00000543440.2_Silent_p.K196K	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	196	POU-specific.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	p.K196K(2)		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)		AGTTTGCCAAGACCTTCAAGC	0.567000													30	233					0	0	0.008361	0	0
SNHG14	104472715	broad.mit.edu	37	15	25326358	25326358	+	RNA	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:25326358G>T	ENST00000546682.1	+	0	58				SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GAGGCTGTTGGGATCCTCCTG	0.493000													18	16					7.07596e-05	7.39893e-05	0.006122	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683294	84683294	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:84683294G>T	ENST00000286744.5	+	24	4198	c.3973_splice	c.e24-1	p.G1325_splice	ADAMTSL3_ENST00000567476.1_Splice_Site_p.G1325_splice	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1325	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.?(2)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTTCCAAAGGTGTCCCTCAG	0.418000													33	137					3.11337e-16	3.82096e-16	0.013726	1	0
IL16	3603	broad.mit.edu	37	15	81591951	81591951	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:81591951G>A	ENST00000394660.2	+	14	2644	c.2284G>A	c.(2284-2286)Gac>Aac	p.D762N	IL16_ENST00000302987.4_Missense_Mutation_p.D762N|IL16_ENST00000394652.2_Missense_Mutation_p.D61N|IL16_ENST00000560230.1_3'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	762					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.D762N(2)|p.D716N(2)		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						ACCAAAGCTGGACACCGCCAA	0.562000													18	98					0	0	0.007413	0	0
CR1L	1379	broad.mit.edu	37	1	207867885	207867885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:207867885G>A	ENST00000508064.2	+	5	711	c.651G>A	c.(649-651)tgG>tgA	p.W217*	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	217	Sushi 3.					cytoplasm|extracellular region|membrane		p.W217*(2)|p.W225*(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGGCATCTGGAGTGGCCCAG	0.463000													67	409					0	0	0.014410	0	0
SIM1	6492	broad.mit.edu	37	6	100897259	100897259	+	Missense_Mutation	SNP	G	G	A	rs438766		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:100897259G>A	ENST00000369208.3	-	6	1305	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F	SIM1_ENST00000262901.4_Missense_Mutation_p.L175F			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	175			L -> F (in dbSNP:rs438766).		cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCACAGGTGAGGCCGGCGTTA	0.622000													4	57					0	0	0.014758	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													8	420					0	0	0.004482	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21011691	21011691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:21011691G>T	ENST00000495827.1	-	5	432	c.387C>A	c.(385-387)taC>taA	p.Y129*	PTPLAD2_ENST00000513293.2_Nonsense_Mutation_p.Y129*	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	129					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	p.Y129*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TGCTATAAGTGTACCTGAAAG	0.368000													10	30					0.00829132	0.00847059	0.008291	1	0
KLF10	7071	broad.mit.edu	37	8	103664623	103664623	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:103664623C>G	ENST00000395884.3	-	2	908	c.6G>C	c.(4-6)gaG>gaC	p.E2D	KLF10_ENST00000285407.6_Missense_Mutation_p.E13D	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	13					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	p.E13D(1)		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)			CCATTCTTTCCTCCTATAAAA	0.303000													7	173					0	0	0.001984	0	0
CACNA1E	777	broad.mit.edu	37	1	181548245	181548245	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:181548245G>T	ENST00000526775.1	+	5	819	c.654G>T	c.(652-654)atG>atT	p.M218I	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M169I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.M218I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.M218I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.M169I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.M218I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	218					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.M218I(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGAAGGCCATGGTACCTCTTC	0.488000													9	162					0.000442599	0.000457736	0.006214	1	0
SMAP1	60682	broad.mit.edu	37	6	71562318	71562318	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:71562318G>T	ENST00000370455.3	+	8	988	c.740G>T	c.(739-741)gGa>gTa	p.G247V	SMAP1_ENST00000316999.5_Missense_Mutation_p.G220V|SMAP1_ENST00000370452.3_Missense_Mutation_p.G220V	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	247					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.G247L(1)|p.G220L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GACATCTTTGGACCGATGATT	0.458000													10	279					1.58986e-06	1.7073e-06	0.008291	1	0
SLC9B2	133308	broad.mit.edu	37	4	103949926	103949926	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:103949926C>A	ENST00000394785.3	-	11	2001	c.1370G>T	c.(1369-1371)tGg>tTg	p.W457L	SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000503230.1_Missense_Mutation_p.W400L|SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000362026.3_Missense_Mutation_p.W457L	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	457					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	p.W457L(4)									CTTTGGAAGCCATGCAAAAGA	0.363000													15	48					0.0285812	0.0290032	0.028581	1	0
GPR34	2857	broad.mit.edu	37	X	41554925	41554925	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:41554925C>G	ENST00000378142.4	+	3	323	c.39C>G	c.(37-39)gtC>gtG	p.V13V	CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Silent_p.V13V|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000442742.2_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	13						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.V13V(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						CAACTTCAGTCAGCAGCTGGC	0.423000													8	419					0	0	0.008291	0	0
ZNF292	23036	broad.mit.edu	37	6	87968870	87968870	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:87968870A>T	ENST00000369577.3	+	8	5566	c.5523A>T	c.(5521-5523)ttA>ttT	p.L1841F	ZNF292_ENST00000339907.4_Missense_Mutation_p.L1836F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1841					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L1696F(2)|p.L1841F(2)		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)		AGGAAATTTTAGAAGGCTTAC	0.373000													15	31					0	0	0.020292	0	0
SLC6A16	28968	broad.mit.edu	37	19	49814442	49814442	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:49814442G>A	ENST00000454748.3	-	2	364	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	SLC6A16_ENST00000335875.4_Missense_Mutation_p.R55W			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	55						integral to membrane|intracellular	neurotransmitter:sodium symporter activity	p.R55W(3)		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)		TCTGCAACCCGGGCTGCTGAA	0.542000													9	59					0	0	0.006214	0	0
RELN	5649	broad.mit.edu	37	7	103155820	103155820	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:103155820C>T	ENST00000428762.1	-	50	8090	c.7931G>A	c.(7930-7932)aGa>aAa	p.R2644K	RELN_ENST00000343529.5_Missense_Mutation_p.R2644K|RELN_ENST00000424685.2_Missense_Mutation_p.R2644K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2644					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	p.R2644K(2)		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)		GCCGTCATGTCTTGGCTGCCA	0.532000													14	62					0	0	0.016723	0	0
TRIML2	205860	broad.mit.edu	37	4	189022242	189022242	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:189022242C>T	ENST00000512729.1	-	3	672	c.298G>A	c.(298-300)Gag>Aag	p.E100K	TRIML2_ENST00000326754.3_Missense_Mutation_p.E100K|TRIML2_ENST00000536972.1_Missense_Mutation_p.E150K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	100							ligase activity	p.E100K(2)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCCTCTAGCTCGGTGGCAAGC	0.413000													16	64					0	0	0.004990	0	0
RYR2	6262	broad.mit.edu	37	1	237948114	237948114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:237948114G>T	ENST00000366574.2	+	90	13419	c.13102G>T	c.(13102-13104)Gag>Tag	p.E4368*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E4374*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E4352*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4368					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	p.K4365_E4366>N*(2)		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)			CGACTTAAAGGAGCTGACAGA	0.537000													48	56					7.77092e-38	1.07597e-37	0.014410	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5190105	5190105	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:5190105C>T	ENST00000274181.7	+	7	1207	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H357Y	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	357	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.H357Y(4)		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						GATAAGTCACCACGCAGACCA	0.488000													87	146					0	0	0.014410	0	0
FOXA3	3171	broad.mit.edu	37	19	46376130	46376130	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:46376130A>T	ENST00000302177.2	+	2	1064	c.867A>T	c.(865-867)ccA>ccT	p.P289P		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	289					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding	p.P289P(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TGGAGCTCCCAGGGGAGCTGA	0.607000													38	24					0	0	0.007835	0	0
RGS1	5996	broad.mit.edu	37	1	192547445	192547445	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:192547445A>G	ENST00000367459.3	+	4	440	c.374A>G	c.(373-375)gAg>gGg	p.E125G	RGS1_ENST00000469578.2_Missense_Mutation_p.E125G	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	125	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.E125R(1)|p.E112R(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				AAGAAAACAGAGTCTGATCTT	0.363000													59	199					0	0	0.014410	0	0
OTOA	146183	broad.mit.edu	37	16	21739597	21739597	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:21739597C>T	ENST00000388958.3	+	19	2053	c.2052C>T	c.(2050-2052)atC>atT	p.I684I	OTOA_ENST00000388956.4_Silent_p.I605I|OTOA_ENST00000286149.4_Silent_p.I698I|OTOA_ENST00000388957.3_Silent_p.I360I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	698					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.I684I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTGTGGACATCATGGGGAACC	0.557000													57	135					0	0	0.014410	0	0
KCNA2	3737	broad.mit.edu	37	1	111146592	111146592	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:111146592C>T	ENST00000485317.1	-	3	1486	c.813G>A	c.(811-813)ggG>ggA	p.G271G	KCNA2_ENST00000440270.1_Silent_p.G271G|KCNA2_ENST00000369770.3_Silent_p.G271G|KCNA2_ENST00000316361.4_Silent_p.G271G			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	271						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G271G(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CCAACTCTGTCCCCAGGGTGA	0.532000													43	185					0	0	0.010771	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43856734	43856734	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:43856734C>T	ENST00000389420.3	-	11	1577	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V	ADAMTS20_ENST00000553158.1_Silent_p.V526V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	526	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding	p.V526V(4)		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)		CTGCTGGTGGCACGTGTTGAG	0.463000													4	16					0	0	0.014758	0	0
NLRP8	126205	broad.mit.edu	37	19	56490839	56490839	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:56490839C>A	ENST00000291971.3	+	9	3027	c.2956C>A	c.(2956-2958)Ctg>Atg	p.L986M	NLRP8_ENST00000590542.1_Missense_Mutation_p.L967M	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	986						cytoplasm	ATP binding	p.L986M(2)		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)		TCTGAGACATCTGGACTTGAG	0.488000													97	94					8.92586e-32	1.21366e-31	0.014410	1	0
PLAT	5327	broad.mit.edu	37	8	42046532	42046532	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:42046532C>G	ENST00000220809.4	-	4	429	c.173G>C	c.(172-174)cGc>cCc	p.R58P	PLAT_ENST00000519510.1_Missense_Mutation_p.R58P|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000429710.2_Missense_Mutation_p.R58P|PLAT_ENST00000429089.2_Missense_Mutation_p.R58P|PLAT_ENST00000524009.1_Missense_Mutation_p.R58P|PLAT_ENST00000270189.6_Missense_Mutation_p.R58P	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	58	Fibronectin type-I.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.R58P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAGCACAGGGCGCAGCCATGA	0.502000													102	534					0	0	0.014410	0	0
LIPM	340654	broad.mit.edu	37	10	90572926	90572926	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:90572926A>T	ENST00000539337.1	+	4	473	c.218A>T	c.(217-219)aAc>aTc	p.N73I	LIPM_ENST00000404743.4_Missense_Mutation_p.N113I			Q5VYY2	LIPM_HUMAN	lipase, family member M	113					lipid catabolic process	extracellular region	hydrolase activity	p.N113I(2)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)|skin(1)	7						AACCTGCCCAACAATAGCCTG	0.498000													5	16					0	0	0.014758	0	0
SNHG14	104472715	broad.mit.edu	37	15	25440127	25440127	+	RNA	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:25440127C>A	ENST00000424208.1	+	0	1460				SNHG14_ENST00000456576.1_RNA|SNORD115-14_ENST00000363090.1_RNA	NR_003305.1																						AAATCATGCTCAATAGGATTA	0.493000													101	300					1.77486e-58	2.54128e-58	0.014410	1	0
GNPDA2	132789	broad.mit.edu	37	4	44713078	44713078	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:44713078T>C	ENST00000509756.1	-	5	592	c.486A>G	c.(484-486)ctA>ctG	p.L162L	GNPDA2_ENST00000295448.3_Silent_p.L162L|GNPDA2_ENST00000507917.1_Silent_p.L128L|GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000507534.1_Silent_p.L92L			Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	162					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	p.L162L(2)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TATCCATTGCTAGAGTCTTTA	0.393000													41	100					0	0	0.007835	0	0
ZNF644	84146	broad.mit.edu	37	1	91406850	91406850	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:91406850C>A	ENST00000370440.1	-	3	278	c.61G>T	c.(61-63)Ggg>Tgg	p.G21W	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G21W|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G21W(3)		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)		TTGGCAAGCCCATTTAACACA	0.299000													29	136					1.60099e-16	1.98417e-16	0.021022	1	0
RTN4	57142	broad.mit.edu	37	2	55253145	55253145	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:55253145A>G	ENST00000337526.6	-	3	2333	c.2090T>C	c.(2089-2091)aTt>aCt	p.I697T	RTN4_ENST00000404909.1_Missense_Mutation_p.I491T|RTN4_ENST00000405240.1_Missense_Mutation_p.I491T|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.I491T|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.I491T|RTN4_ENST00000354474.6_Missense_Mutation_p.I465T|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	697					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	p.I491T(2)|p.I697T(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						ATCACATGCAATAGATATATA	0.343000													52	107					0	0	0.014410	0	0
PIK3CG	5294	broad.mit.edu	37	7	106524641	106524641	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:106524641C>T	ENST00000359195.3	+	9	3112	c.2802C>T	c.(2800-2802)ggC>ggT	p.G934G	PIK3CG_ENST00000496166.1_Silent_p.G934G|PIK3CG_ENST00000440650.2_Silent_p.G934G	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	934	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.G934G(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCTGTGCAGGCTACTGTGTGG	0.363000													103	174					0	0	0.014410	0	0
TMEM106C	79022	broad.mit.edu	37	12	48358151	48358151	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:48358151C>T	ENST00000429772.2	+	2	245	c.132C>T	c.(130-132)acC>acT	p.T44T	TMEM106C_ENST00000449758.2_Silent_p.T44T|TMEM106C_ENST00000549288.1_Silent_p.T44T|TMEM106C_ENST00000256686.6_Silent_p.T44T|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000552561.1_Silent_p.T44T|TMEM106C_ENST00000550552.1_Silent_p.T44T	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	44						endoplasmic reticulum membrane|integral to membrane		p.T44T(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TGGAATTCACCGGGAGAGATA	0.537000													18	38					0	0	0.007413	0	0
FRMPD1	22844	broad.mit.edu	37	9	37708411	37708411	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:37708411G>A	ENST00000539465.1	+	4	868	c.275G>A	c.(274-276)gGc>gAc	p.G92D	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.G92D			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													5	227					0	0	0.021553	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361663	105361663	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:105361663C>T	ENST00000297581.2	+	2	932	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	295					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.L295L(2)									AAACCTGGGGCTGTTTTTCCT	0.488000													62	264					0	0	0.014410	0	0
LMAN1	3998	broad.mit.edu	37	18	57026338	57026338	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:57026338C>G	ENST00000251047.5	-	1	856	c.139G>C	c.(139-141)Gag>Cag	p.E47Q		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	47	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	p.E47Q(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TATTTGTACTCGAAACGGCGA	0.687000													45	112					0	0	0.014410	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250802	142250802	+	RNA	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:142250802C>A	ENST00000390360.3	-	0	265																											GACACTATAACCATCAGGGAC	0.488000													32	135					2.85442e-18	3.59058e-18	0.010818	1	0
LRBA	987	broad.mit.edu	37	4	151765810	151765810	+	Splice_Site	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:151765810C>G	ENST00000535741.1	-	27	4934	c.4461_splice	c.e27+1	p.K1487_splice	LRBA_ENST00000507224.1_Splice_Site_p.K1487_splice|LRBA_ENST00000510413.1_Splice_Site_p.K1487_splice|LRBA_ENST00000357115.3_Splice_Site_p.K1487_splice			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1487						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.K1487N(2)		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)					GTATACTTACCTTCGCTGCAG	0.323000													21	45					0	0	0.018920	0	0
OR10G4	390264	broad.mit.edu	37	11	123887150	123887150	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:123887150G>A	ENST00000320891.4	+	1	869	c.869G>A	c.(868-870)aGa>aAa	p.R290K		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R290K(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		TACACCCTGAGAAACAAGGAG	0.433000													80	111					0	0	0.014410	0	0
HBD	3045	broad.mit.edu	37	11	5255426	5255426	+	Missense_Mutation	SNP	G	G	T	rs34383555		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:5255426G>T	ENST00000380299.3	-	2	324	c.110C>A	c.(109-111)cCt>cAt	p.P37H	HBD_ENST00000292901.3_Missense_Mutation_p.P37H	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	37			P -> H (in Metaponto; dbSNP:rs34383555).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.P37H(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGTCCAAGGGTAGACCAC	0.517000													42	122					1.57019e-19	2.0018e-19	0.007835	1	0
GPR1	2825	broad.mit.edu	37	2	207041754	207041754	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:207041754G>T	ENST00000407325.2	-	3	580	c.218C>A	c.(217-219)aCt>aAt	p.T73N	GPR1_ENST00000437420.1_Missense_Mutation_p.T73N	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	73						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		GAACCACAGAGTGGTGACTGT	0.468000													13	307					9.31168e-06	9.83189e-06	0.016723	1	0
DNM1P46	196968	broad.mit.edu	37	15	100332548	100332548	+	RNA	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:100332548G>A	ENST00000341853.1	-	0	1643				AC090825.1_ENST00000408584.1_RNA	NR_003260.1																						AGGGCCGTCGGAGGGACCTCA	0.587000													19	53					0	0	0.006122	0	0
ARMC3	219681	broad.mit.edu	37	10	23292330	23292330	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:23292330A>G	ENST00000298032.5	+	13	1802	c.1718A>G	c.(1717-1719)tAt>tGt	p.Y573C	ARMC3_ENST00000409983.3_Missense_Mutation_p.Y573C|ARMC3_ENST00000409049.3_Missense_Mutation_p.Y573C|ARMC3_ENST00000376528.4_Missense_Mutation_p.Y310C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	573							binding	p.Y573C(2)		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						GATGGATTCTATGATTATGGT	0.333000													100	90					0	0	0.014410	0	0
OR2A14	135941	broad.mit.edu	37	7	143827010	143827010	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:143827010C>A	ENST00000408899.2	+	1	860	c.805C>A	c.(805-807)Cag>Aag	p.Q269K		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q269K(2)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TCCTGAGGAGCAGCAGAAAGT	0.552000													99	321					1.07466e-44	1.51575e-44	0.014410	1	0
OR11A1	26531	broad.mit.edu	37	6	29394899	29394899	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:29394899G>A	ENST00000377149.1	-	5	992	c.520C>T	c.(520-522)Cac>Tac	p.H174Y	OR11A1_ENST00000377147.2_Missense_Mutation_p.H174Y|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Missense_Mutation_p.H174Y			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H174Y(2)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						TGGTCAATGTGGTTGGGGCCA	0.547000													28	63					0	0	0.024334	0	0
IST1	9798	broad.mit.edu	37	16	71955338	71955338	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:71955338A>T	ENST00000378799.6	+	6	890	c.534A>T	c.(532-534)gaA>gaT	p.E178D	IST1_ENST00000378798.5_Missense_Mutation_p.E178D|IST1_ENST00000544564.1_Missense_Mutation_p.E178D|IST1_ENST00000606369.1_Missense_Mutation_p.E30D|IST1_ENST00000535424.1_Missense_Mutation_p.E191D|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000538850.1_Missense_Mutation_p.E30D|IST1_ENST00000329908.8_Missense_Mutation_p.E178D|IST1_ENST00000541571.2_Missense_Mutation_p.E178D|IST1_ENST00000538565.1_3'UTR	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	178	Interaction with VPS37B.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	p.E178D(2)									TACCCTATGAACCTGACTCTG	0.393000													12	83					0	0	0.013537	0	0
DCDC1	341019	broad.mit.edu	37	11	31312213	31312213	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:31312213C>A	ENST00000597505.1	-	5	940	c.941G>T	c.(940-942)gGa>gTa	p.G314V	DCDC1_ENST00000452803.1_Missense_Mutation_p.G314V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	314					intracellular signal transduction			p.G314L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTTTCTTTTCCCACTGTAAT	0.328000													24	63					4.72057e-08	5.18714e-08	0.021523	1	0
ANKLE2	23141	broad.mit.edu	37	12	133331681	133331681	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:133331681G>C	ENST00000539605.1	-	1	6718	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V	ANKLE2_ENST00000337516.5_Missense_Mutation_p.L74V|ANKLE2_ENST00000357997.5_Missense_Mutation_p.L74V			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	74						cytoplasm|integral to membrane|nuclear envelope		p.L74V(2)		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)		GGATTCAGAAGTTTCAATCGA	0.403000													32	133					0	0	0.009535	0	0
PRKCA	5578	broad.mit.edu	37	17	64800011	64800011	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:64800011C>A	ENST00000413366.3	+	17	1901	c.1875C>A	c.(1873-1875)aaC>aaA	p.N625K		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	625	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.N625K(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GAGCAGAGAACTTTGACAAGT	0.493000													33	133					3.03874e-20	3.89371e-20	0.015359	1	0
WDR7	23335	broad.mit.edu	37	18	54446673	54446673	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:54446673T>C	ENST00000254442.3	+	18	3170	c.2959T>C	c.(2959-2961)Tta>Cta	p.L987L	WDR7_ENST00000357574.3_Silent_p.L954L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	987								p.L987L(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTGGAGTCAGTTAGCTGCTAT	0.403000													94	74					0	0	0.014410	0	0
DCTN1	1639	broad.mit.edu	37	2	74597136	74597136	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:74597136G>C	ENST00000361874.3	-	13	1665	c.1348C>G	c.(1348-1350)Ctg>Gtg	p.L450V	DCTN1_ENST00000407639.2_Missense_Mutation_p.L316V|DCTN1_ENST00000394003.3_Missense_Mutation_p.L443V|DCTN1_ENST00000409438.1_Missense_Mutation_p.L316V|DCTN1_ENST00000409868.1_Missense_Mutation_p.L433V|DCTN1_ENST00000409567.3_Missense_Mutation_p.L430V|DCTN1_ENST00000409240.1_Missense_Mutation_p.L413V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	450					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	p.L450V(1)		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						TTCTCTTCCAGATTCAGGTTC	0.537000													52	229					0	0	0.014410	0	0
GRM7	2917	broad.mit.edu	37	3	7620536	7620536	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:7620536C>T	ENST00000486284.1	+	8	2217	c.1943C>T	c.(1942-1944)gCc>gTc	p.A648V	GRM7_ENST00000403881.1_Missense_Mutation_p.A648V|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.A648V|GRM7_ENST00000357716.4_Missense_Mutation_p.A648V|GRM7_ENST00000402647.2_Missense_Mutation_p.A648V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	648					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	p.A648V(2)		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)	CTGATGATTGCCAAACCAGAT	0.473000													50	219					0	0	0.014410	0	0
DBX2	440097	broad.mit.edu	37	12	45410296	45410296	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:45410296G>T	ENST00000332700.6	-	4	964	c.793C>A	c.(793-795)Ctc>Atc	p.L265I		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	265						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L265I(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GACCGTGAGAGGGGATCCTCT	0.483000													49	122					4.86159e-25	6.42546e-25	0.014410	1	0
L1CAM	3897	broad.mit.edu	37	X	153134081	153134081	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:153134081C>T	ENST00000370060.1	-	13	1670	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	L1CAM_ENST00000370057.3_Missense_Mutation_p.R494H|L1CAM_ENST00000543994.1_Missense_Mutation_p.R496H|L1CAM_ENST00000538883.1_Missense_Mutation_p.R496H|L1CAM_ENST00000361699.4_Missense_Mutation_p.R494H|L1CAM_ENST00000370055.1_Missense_Mutation_p.R489H|L1CAM_ENST00000361981.3_Missense_Mutation_p.R489H	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	494	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.R494H(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAAGTAGCGTCCGGTGTC	0.552000													71	22					0	0	0.014410	0	0
AOC2	314	broad.mit.edu	37	17	40996773	40996773	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:40996773G>A	ENST00000253799.3	+	1	157	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	AOC2_ENST00000452774.2_Missense_Mutation_p.A44T	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	44					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.A44T(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ATCCCATAGGGCCCAGCCCTG	0.627000													64	485					0	0	0.014410	0	0
TUBG2	27175	broad.mit.edu	37	17	40818442	40818442	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:40818442C>T	ENST00000251412.7	+	10	1297	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	366					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	p.Y366Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AGTCTCCCTACCTGCCCTCGG	0.602000													28	230					0	0	0.007291	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													3	30					0	0	0.021553	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209141468	209141468	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:209141468G>T	ENST00000264380.4	+	4	513	c.355G>T	c.(355-357)Ggt>Tgt	p.G119C	PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000308862.6_Intron|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.G119C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	119					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.G119C(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TACCTTTGGAGGTCATGACCC	0.428000													48	118					2.13384e-23	2.80066e-23	0.014410	1	0
DPP6	1804	broad.mit.edu	37	7	154379663	154379663	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:154379663G>T	ENST00000406326.1	+	6	1334	c.931G>T	c.(931-933)Gca>Tca	p.A311S	DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000377770.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.A311S(2)		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)			TCGCAGCCATGCACCTGCAGC	0.592000													126	168					4.23873e-62	6.08061e-62	0.014410	1	0
SCN1A	6323	broad.mit.edu	37	2	166900188	166900188	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:166900188A>T	ENST00000423058.2	-	11	2051	c.2034T>A	c.(2032-2034)acT>acA	p.T678T	SCN1A_ENST00000409050.1_Intron|SCN1A_ENST00000375405.3_Intron|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.T678T|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	678						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T678T(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATTGTCATCAGTAGCTGGCT	0.463000													29	47					0	0	0.006320	0	0
CFHR5	81494	broad.mit.edu	37	1	196971714	196971714	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:196971714G>T	ENST00000367414.5	+	8	1378	c.1322G>T	c.(1321-1323)tGt>tTt	p.C441F	CFHR5_ENST00000256785.4_Missense_Mutation_p.C417F	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	417	Sushi 7.				complement activation, alternative pathway	extracellular region		p.C417F(2)		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						GCTGTTCTCTGTAAAGAAAAC	0.388000													19	58					7.21436e-19	9.1205e-19	0.008871	1	0
ARHGEF6	9459	broad.mit.edu	37	X	135829672	135829672	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:135829672G>A	ENST00000250617.6	-	3	1534	c.329C>T	c.(328-330)aCa>aTa	p.T110I	ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	110	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.T110I(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTTACCTTCTGTTGCTTTGTT	0.403000													17	85					0	0	0.008871	0	0
HEATR6	63897	broad.mit.edu	37	17	58134604	58134604	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:58134604C>T	ENST00000184956.6	-	12	1900	c.1884G>A	c.(1882-1884)aaG>aaA	p.K628K	HEATR6_ENST00000585976.1_Silent_p.K628K	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	628							binding	p.K628K(2)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CAGGGGCTTTCTTCCACCAAT	0.517000													40	249					0	0	0.007835	0	0
PLA2G6	8398	broad.mit.edu	37	22	38512182	38512182	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:38512182C>T	ENST00000332509.3	-	13	1962	c.1779G>A	c.(1777-1779)ccG>ccA	p.P593P	PLA2G6_ENST00000402064.1_Silent_p.P539P|PLA2G6_ENST00000335539.3_Silent_p.P539P	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	593					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGAGTTCAGCCGGCTGCCGGT	0.602000													5	73					0	0	0.021553	0	0
EFTUD1	79631	broad.mit.edu	37	15	82533698	82533698	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:82533698C>A	ENST00000268206.7	-	5	459	c.291G>T	c.(289-291)gtG>gtT	p.V97V	EFTUD1_ENST00000359445.3_Silent_p.V46V	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	97					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	p.V97V(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGGAAAAGTCCACGTGTCCTG	0.423000													14	55					4.3838e-07	4.77544e-07	0.016723	1	0
LIMCH1	22998	broad.mit.edu	37	4	41687737	41687737	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:41687737G>C	ENST00000313860.7	+	23	2880	c.2826G>C	c.(2824-2826)caG>caC	p.Q942H	LIMCH1_ENST00000512632.1_Missense_Mutation_p.Q865H|LIMCH1_ENST00000503057.1_Missense_Mutation_p.Q1326H|LIMCH1_ENST00000512946.1_Missense_Mutation_p.Q942H|LIMCH1_ENST00000514096.1_Missense_Mutation_p.Q782H|LIMCH1_ENST00000396595.3_Missense_Mutation_p.Q787H|LIMCH1_ENST00000511496.1_Missense_Mutation_p.Q782H|LIMCH1_ENST00000509277.1_Missense_Mutation_p.Q775H|LIMCH1_ENST00000512820.1_Missense_Mutation_p.Q954H|LIMCH1_ENST00000513024.1_Missense_Mutation_p.Q795H|LIMCH1_ENST00000381753.4_Missense_Mutation_p.Q775H|LIMCH1_ENST00000508501.1_Missense_Mutation_p.Q941H	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	942					actomyosin structure organization		actin binding|zinc ion binding	p.Q942H(2)|p.Q1326H(2)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATCCATCCCAGAATCAGCAGA	0.428000													26	74					0	0	0.024334	0	0
HTR1F	3355	broad.mit.edu	37	3	88040798	88040798	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:88040798G>A	ENST00000319595.4	+	1	953	c.899G>A	c.(898-900)gGt>gAt	p.G300D		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	300					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	p.G300D(2)		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)	TTAATCTTGGGTGCATTTGTA	0.368000													6	35					0	0	0.001984	0	0
ZNF343	79175	broad.mit.edu	37	20	2464027	2464027	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:2464027C>A	ENST00000278772.4	-	6	2067	c.1580G>T	c.(1579-1581)gGg>gTg	p.G527V	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G527V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AAAGCCTCGCCCACATTCCCT	0.512000													47	95					2.40228e-13	2.86455e-13	0.013114	1	0
OR6N1	128372	broad.mit.edu	37	1	158735615	158735615	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:158735615G>A	ENST00000335094.2	-	1	877	c.858C>T	c.(856-858)aaC>aaT	p.N286N		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N286N(2)		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)					AGATGAAGGGGTTGAGGAAGG	0.527000													87	268					0	0	0.014410	0	0
BAZ1A	11177	broad.mit.edu	37	14	35243536	35243536	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:35243536G>C	ENST00000360310.1	-	19	3561	c.2994C>G	c.(2992-2994)atC>atG	p.I998M	BAZ1A_ENST00000358716.4_Missense_Mutation_p.I966M|BAZ1A_ENST00000382422.2_Missense_Mutation_p.I998M	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	998					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TACAAACCTTGATGGCTCCTA	0.348000													4	72					0	0	0.014758	0	0
OTOP2	92736	broad.mit.edu	37	17	72926822	72926822	+	Silent	SNP	G	G	A	rs150890021	by1000genomes	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:72926822G>A	ENST00000331427.4	+	6	1184	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	OTOP2_ENST00000580223.1_Silent_p.T364T	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	364						integral to membrane		p.T364T(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGAACCCCACGCGCACTCTGG	0.617000													16	112					0	0	0.004990	0	0
LINGO2	158038	broad.mit.edu	37	9	27949535	27949535	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:27949535G>T	ENST00000379992.2	-	6	1584	c.1135C>A	c.(1135-1137)Caa>Aaa	p.Q379K	LINGO2_ENST00000308675.3_Missense_Mutation_p.Q379K	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	379	LRRCT.					integral to membrane		p.Q379K(4)		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)		CACATAGGTTGCTGGCCACCA	0.517000													30	27					5.77227e-19	7.30961e-19	0.008361	1	0
POU3F4	5456	broad.mit.edu	37	X	82763575	82763575	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:82763575G>T	ENST00000373200.2	+	1	307	c.243G>T	c.(241-243)gtG>gtT	p.V81V	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	81					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	p.V81V(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGCAGGACGTGAAGCCCGGGC	0.667000													7	3					0.00198382	0.00203496	0.001984	1	0
LMO7	4008	broad.mit.edu	37	13	76409325	76409325	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:76409325G>A	ENST00000526202.1	+	13	2195	c.2115G>A	c.(2113-2115)cgG>cgA	p.R705R	LMO7_ENST00000357063.3_Intron|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000321797.8_Intron|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000377534.3_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	1127						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)		CATTTATACGGCATAAAACCC	0.388000													3	61					0	0	0.004672	0	0
SULT1B1	27284	broad.mit.edu	37	4	70592821	70592821	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:70592821G>C	ENST00000310613.2	-	8	1173	c.876C>G	c.(874-876)ttC>ttG	p.F292L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	292					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		p.F292L(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TCTCTGTGCGGAATTGAAGTG	0.393000													10	126					0	0	0.006214	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373677	86373677	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:86373677A>G	ENST00000604798.1	-	8	2031	c.827T>C	c.(826-828)tTa>tCa	p.L276S	MGAT4C_ENST00000332156.1_Missense_Mutation_p.L276S|MGAT4C_ENST00000548651.1_Missense_Mutation_p.L276S|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L276S|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.L305S|MGAT4C_ENST00000549405.2_Missense_Mutation_p.L276S			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	276					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.L276S(2)		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						AAACATTAATAAAAAATGGGC	0.383000													24	51					0	0	0.016522	0	0
SFMBT2	57713	broad.mit.edu	37	10	7325987	7325987	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:7325987G>A	ENST00000361972.4	-	6	741	c.651C>T	c.(649-651)cgC>cgT	p.R217R	SFMBT2_ENST00000397167.1_Silent_p.R217R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	217					regulation of transcription, DNA-dependent	nucleus		p.R217R(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						CATAGCGAAGGCGTAATCTTC	0.413000													11	173					0	0	0.016723	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236615	26236615	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:26236615T>G	ENST00000354667.4	-	5	491	c.323A>C	c.(322-324)cAt>cCt	p.H108P	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.H96P	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	108					RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	p.H108P(2)|p.H96P(2)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CACAGTTACATGAGCCCCTGG	0.383000			T	ETV1	prostate								44	137					0	0	0.014410	0	0
DSCAML1	57453	broad.mit.edu	37	11	117308768	117308768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:117308768G>T	ENST00000321322.6	-	25	4456	c.4455C>A	c.(4453-4455)agC>agA	p.S1485R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1215R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1425	Fibronectin type-III 6.				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.S1485R(2)		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)		TCCACTCCTCGCTGTTGTCCA	0.602000													44	39					4.1673e-28	5.58596e-28	0.014410	1	0
F2RL1	2150	broad.mit.edu	37	5	76128923	76128923	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:76128923T>A	ENST00000296677.4	+	2	697	c.491T>A	c.(490-492)cTc>cAc	p.L164H		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	164					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	p.L164H(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TGTTCCATTCTCTTCATGACC	0.468000													72	237					0	0	0.014410	0	0
NLGN1	22871	broad.mit.edu	37	3	173993231	173993231	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:173993231T>C	ENST00000457714.1	+	5	1202	c.773T>C	c.(772-774)tTt>tCt	p.F258S	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Missense_Mutation_p.F258S|NLGN1_ENST00000401917.3_Missense_Mutation_p.F298S|NLGN1_ENST00000545397.1_Missense_Mutation_p.F258S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	275					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	p.F258S(1)		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)			ATCACTGTTTTTGGATCTGGT	0.428000													70	89					0	0	0.014410	0	0
PTPN4	5775	broad.mit.edu	37	2	120723109	120723109	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:120723109A>G	ENST00000263708.2	+	25	3217	c.2446A>G	c.(2446-2448)Ata>Gta	p.I816V	PTPN4_ENST00000544261.1_Missense_Mutation_p.I449V	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	816	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	p.I816V(2)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GATCCAGTACATAGCCTGGCC	0.408000													84	106					0	0	0.014410	0	0
BMPER	168667	broad.mit.edu	37	7	34091581	34091581	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:34091581G>T	ENST00000297161.2	+	9	1159	c.786_splice	c.e9+1	p.R262_splice	BMPER_ENST00000426693.1_Splice_Site_p.R262_splice|BMPER_ENST00000494786.1_3'UTR	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	262	VWFC 4.				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		p.R262M(2)		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						TGTACCTGCAGGGTAAGGCAG	0.453000													21	85					1.55795e-14	1.87251e-14	0.012319	1	0
THADA	63892	broad.mit.edu	37	2	43768305	43768305	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:43768305A>T	ENST00000405006.4	-	21	3608	c.3257T>A	c.(3256-3258)gTg>gAg	p.V1086E	THADA_ENST00000330266.7_Missense_Mutation_p.V796E|THADA_ENST00000405975.2_Missense_Mutation_p.V1086E|THADA_ENST00000415080.2_Missense_Mutation_p.V796E	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1086							binding	p.V1086E(2)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TACCTGCTCCACCGTCAATAA	0.388000													34	66					0	0	0.010818	0	0
NRSN2	80023	broad.mit.edu	37	20	334097	334097	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:334097G>A	ENST00000382291.3	+	4	673	c.433G>A	c.(433-435)Gac>Aac	p.D145N	NRSN2_ENST00000382285.2_Missense_Mutation_p.D145N|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	145						integral to membrane|plasma membrane|transport vesicle		p.D145N(1)		endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTGAGCCAGGACACCAAGGC	0.632000													6	112					0	0	0.003080	0	0
NPAP1	23742	broad.mit.edu	37	15	24921525	24921525	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:24921525G>C	ENST00000329468.2	+	1	985	c.511G>C	c.(511-513)Ggg>Cgg	p.G171R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.G171R(2)									GCAGATCGAAGGGGAGGATGA	0.612000													17	87					0	0	0.007413	0	0
CREB3L2	64764	broad.mit.edu	37	7	137586170	137586170	+	Splice_Site	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:137586170T>A	ENST00000330387.6	-	8	1326		c.e8-2		CREB3L2_ENST00000456390.1_Splice_Site	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2						chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GACTCCACTCTACAAAGGAGG	0.463000			T	FUS	fibromyxoid sarcoma								7	81					0	0	0.004482	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													4	39					0	0	0.009096	0	0
DCLK1	9201	broad.mit.edu	37	13	36700141	36700141	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:36700141C>A	ENST00000255448.4	-	2	345	c.134G>T	c.(133-135)cGc>cTc	p.R45L	DCLK1_ENST00000360631.3_Missense_Mutation_p.R45L|DCLK1_ENST00000379892.4_Missense_Mutation_p.R45L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	45					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	p.R45L(4)		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)		CTGCAGCGTGCGGGTGCGGTA	0.592000													65	54					1.26778e-28	1.70238e-28	0.014410	1	0
NFATC3	4775	broad.mit.edu	37	16	68225604	68225604	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:68225604G>A	ENST00000349223.5	+	9	3256	c.3032G>A	c.(3031-3033)aGc>aAc	p.S1011N	NFATC3_ENST00000346183.3_Missense_Mutation_p.S1011N|NFATC3_ENST00000575270.1_Missense_Mutation_p.S1011N|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.S1011N	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	1011					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.S1011N(4)		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)		GCAACTGTGAGCATTAAACCT	0.463000													136	204					0	0	0.014410	0	0
TRPC4	7223	broad.mit.edu	37	13	38266459	38266459	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:38266459G>T	ENST00000379705.3	-	4	1768	c.911C>A	c.(910-912)cCc>cAc	p.P304H	TRPC4_ENST00000358477.2_Missense_Mutation_p.P304H|TRPC4_ENST00000338947.5_Missense_Mutation_p.P131H|TRPC4_ENST00000447043.1_Missense_Mutation_p.P304H|TRPC4_ENST00000379673.2_Missense_Mutation_p.P304H|TRPC4_ENST00000426868.2_Missense_Mutation_p.P304H|TRPC4_ENST00000355779.2_Missense_Mutation_p.P304H|TRPC4_ENST00000379679.1_Missense_Mutation_p.P131H|TRPC4_ENST00000379681.3_Missense_Mutation_p.P304H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	304	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	p.P304H(4)		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)		TTGACAATTGGGCTGGGCAAC	0.438000													28	22					1.12875e-08	1.25861e-08	0.006320	1	0
TCF7L2	6934	broad.mit.edu	37	10	114925681	114925681	+	Missense_Mutation	SNP	G	G	T	rs66702705		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:114925681G>T	ENST00000545257.1	+	15	2317	c.1810G>T	c.(1810-1812)Gcc>Tcc	p.A604S	TCF7L2_ENST00000369397.4_Missense_Mutation_p.A581S|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000536810.1_Missense_Mutation_p.A587S|TCF7L2_ENST00000355995.4_Missense_Mutation_p.A604S|TCF7L2_ENST00000543371.1_Missense_Mutation_p.A587S|TCF7L2_ENST00000542695.1_Missense_Mutation_p.A320S|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000538897.1_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	604					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.A581S(2)|p.A587S(2)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CAGCTCCCTGGCCGGGACCCA	0.587000			T	VTI1A	colorectal								18	67					6.94344e-10	7.86993e-10	0.006122	1	0
GBP3	2635	broad.mit.edu	37	1	89481013	89481013	+	Missense_Mutation	SNP	G	G	A	rs142900270	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:89481013G>A	ENST00000370481.4	-	3	495	c.275C>T	c.(274-276)aCc>aTc	p.T92I	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	92						integral to membrane	GTP binding|GTPase activity	p.T92I(2)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CAGGACTAAGGTGTGTTCTGG	0.458000													34	244					0	0	0.013726	0	0
FRY	10129	broad.mit.edu	37	13	32776615	32776615	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:32776615A>T	ENST00000380250.3	+	31	4465	c.3969A>T	c.(3967-3969)tcA>tcT	p.S1323S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.S1323S(2)		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)		CCCTCTTGTCATGTGAGCTGG	0.493000													88	66					0	0	0.014410	0	0
IMPG1	3617	broad.mit.edu	37	6	76728444	76728444	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:76728444G>A	ENST00000369950.3	-	7	987	c.798C>T	c.(796-798)tcC>tcT	p.S266S	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	266	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.S266S(2)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCTGAAGTTGGGACTTTCCTG	0.547000													27	153					0	0	0.006320	0	0
MASP1	5648	broad.mit.edu	37	3	186954049	186954049	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:186954049G>C	ENST00000296280.6	-	11	1835	c.1610C>G	c.(1609-1611)gCc>gGc	p.A537G	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Missense_Mutation_p.A424G	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	536	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.A537G(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CACCACTCGGGCAGCTGAGCT	0.567000													50	82					0	0	0.014410	0	0
TECRL	253017	broad.mit.edu	37	4	65180482	65180482	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:65180482C>A	ENST00000381210.3	-	5	546		c.e5-1		TECRL_ENST00000513125.1_Splice_Site|TECRL_ENST00000507440.1_Splice_Site	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like						lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CCAAAAACACCTGAAAATAAA	0.328000													6	92					5.9392e-07	6.44194e-07	0.021553	1	0
CDC42BPB	9578	broad.mit.edu	37	14	103412024	103412024	+	Silent	SNP	G	G	C	rs141924737		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:103412024G>C	ENST00000361246.2	-	29	4074	c.3786C>G	c.(3784-3786)ctC>ctG	p.L1262L		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1262	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.L1262L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTATGACATAGAGCCCTTCTT	0.542000													12	67					0	0	0.013537	0	0
ARAP2	116984	broad.mit.edu	37	4	36149346	36149346	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:36149346T>G	ENST00000303965.4	-	18	3512	c.3023A>C	c.(3022-3024)gAa>gCa	p.E1008A		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1008					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.E1008A(1)		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						TGTTAAGTTTTCAGCAAATAA	0.368000													5	57					0	0	0.014758	0	0
POTEH	23784	broad.mit.edu	37	22	16279286	16279286	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:16279286G>T	ENST00000343518.6	-	4	988	c.937C>A	c.(937-939)Ctg>Atg	p.L313M		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	313								p.L313M(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCAAGTAACAGTGGTGTGAGG	0.323000													15	375					8.34094e-07	9.0211e-07	0.008871	1	0
ZPBP2	124626	broad.mit.edu	37	17	38031554	38031554	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:38031554C>T	ENST00000377940.3	+	6	829	c.690C>T	c.(688-690)ttC>ttT	p.F230F	ZPBP2_ENST00000584588.1_Silent_p.F179F|ZPBP2_ENST00000348931.4_Silent_p.F252F	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	252					binding of sperm to zona pellucida	extracellular region		p.F252F(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			CATATATTTTCTACCATAACT	0.373000													19	160					0	0	0.008871	0	0
TRAV29DV5	28653	broad.mit.edu	37	14	22631522	22631522	+	RNA	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:22631522C>A	ENST00000390458.3	+	0	225																											CATCCCTGAGCGTCCAGGAAG	0.368000											OREG0022575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	11					6.4e-05	6.70139e-05	0.004672	1	0
RREB1	6239	broad.mit.edu	37	6	7240734	7240734	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:7240734G>C	ENST00000379938.2	+	11	4409	c.3872G>C	c.(3871-3873)cGc>cCc	p.R1291P	RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Missense_Mutation_p.R1291P|RREB1_ENST00000349384.6_Intron	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1272					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.R1291P(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AACTGTGAACGCCACCAGTTG	0.438000													58	138					0	0	0.014410	0	0
MIR656	724026	broad.mit.edu	37	14	101533098	101533098	+	RNA	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:101533098T>A	ENST00000385224.1	+	0	38					NR_030392.1																						ACTTTCTATATGATGAATATT	0.522000													19	81					0	0	0.016522	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481535	140481535	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:140481535G>C	ENST00000231130.2	+	1	1302	c.1302G>C	c.(1300-1302)aaG>aaC	p.K434N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		434	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.K434N(2)		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)			TGAAAACCAAGTACAACATAA	0.562000													40	99					0	0	0.027894	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906014	144906014	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:144906014C>A	ENST00000370490.1	+	1	6326	c.2071C>A	c.(2071-2073)Cct>Act	p.P691T	SLITRK2_ENST00000413937.2_Missense_Mutation_p.P691T|SLITRK2_ENST00000434188.2_Missense_Mutation_p.P691T|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P691T|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P691T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	691						integral to membrane		p.P691T(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TATCCCCCCACCTGTGGGTCA	0.468000													104	41					8.27256e-43	1.15176e-42	0.014410	1	0
OCA2	4948	broad.mit.edu	37	15	28116363	28116363	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:28116363C>G	ENST00000354638.3	-	21	2336	c.2181G>C	c.(2179-2181)ctG>ctC	p.L727L	OCA2_ENST00000353809.5_Silent_p.L703L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	727					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)		CCCACACCACCAGGACAATGG	0.562000									Oculocutaneous Albinism				5	89					0	0	0.001984	0	0
SRCAP	10847	broad.mit.edu	37	16	30721220	30721220	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:30721220C>T	ENST00000262518.4	+	8	1290	c.905C>T	c.(904-906)aCg>aTg	p.T302M	SRCAP_ENST00000344771.4_Missense_Mutation_p.T302M|SRCAP_ENST00000395059.2_Missense_Mutation_p.T302M	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	302	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.T302M(2)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GATGAGGAAACGATTGAAGTT	0.532000													11	105					0	0	0.010729	0	0
RGS4	5999	broad.mit.edu	37	1	163043250	163043250	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:163043250G>C	ENST00000421743.2	+	5	667	c.507G>C	c.(505-507)ggG>ggC	p.G169G	RGS4_ENST00000531057.1_Silent_p.G72G|RGS4_ENST00000367909.6_Silent_p.G72G|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000527809.1_Silent_p.G54G|RGS4_ENST00000367906.3_Silent_p.G54G|RGS4_ENST00000367908.4_Intron	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	72	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.G169G(2)|p.G72G(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TCATAGGTGGGCTGGCAGCTT	0.423000													36	136					0	0	0.025465	0	0
TTN	7273	broad.mit.edu	37	2	179395627	179395627	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:179395627G>T	ENST00000589042.1	-	358	105939	c.105715C>A	c.(105715-105717)Cct>Act	p.P35239T	TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26299T|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P26174T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P26366T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P33598T|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P32671T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33598							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P26299T(1)|p.P26366T(1)|p.P26174T(1)|p.P32671T(1)|p.P32669T(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)			TTCACCCGAGGCTCTGGGGAT	0.483000													73	147					1.46168e-27	1.95581e-27	0.014410	1	0
MUC7	4589	broad.mit.edu	37	4	71346890	71346890	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:71346890A>C	ENST00000413702.1	+	4	717	c.429A>C	c.(427-429)gaA>gaC	p.E143D	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.E143D|MUC7_ENST00000304887.5_Missense_Mutation_p.E143D	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	143	Thr-rich.					extracellular region	protein binding	p.E143D(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CTTCAAGAGAAAATGTTAACA	0.458000													49	261					0	0	0.014410	0	0
USP9X	8239	broad.mit.edu	37	X	41000347	41000347	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:41000347A>G	ENST00000324545.7	+	8	1532	c.899A>G	c.(898-900)aAt>aGt	p.N300S	USP9X_ENST00000378308.2_Missense_Mutation_p.N300S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	300					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.N300S(2)|p.N293S(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAAGCAAAGAATGAAGCCAAA	0.299000													92	9					0	0	0.014410	0	0
MYH3	4621	broad.mit.edu	37	17	10535936	10535936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:10535936C>A	ENST00000583535.1	-	34	4900	c.4813G>T	c.(4813-4815)Gag>Tag	p.E1605*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.E1605*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1605					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						CTCCGCACCTCGGCGTCCAGG	0.557000													10	517					1.61879e-10	1.85425e-10	0.013537	1	0
FAR2P1	440905	broad.mit.edu	37	2	130792789	130792789	+	RNA	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:130792789A>C	ENST00000325390.3	-	0	2539					NR_026758.1																						TAAGTCTCCCACAGCCATTGG	0.473000													10	36					0	0	0.028581	0	0
IGF2BP2-AS1	646600	broad.mit.edu	37	3	185431229	185431229	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:185431229T>C	ENST00000296270.1	+	1	150	c.14T>C	c.(13-15)cTa>cCa	p.L5P	IGF2BP2_ENST00000457616.2_Intron|IGF2BP2_ENST00000382199.2_Intron|IGF2BP2_ENST00000421047.2_Intron|IGF2BP2_ENST00000346192.3_Intron																		all_cancers(143;1.5e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GCAACACCACTAGATAACTGT	0.458000													13	64					0	0	0.016723	0	0
FCGBP	8857	broad.mit.edu	37	19	40367914	40367914	+	Splice_Site	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:40367914T>C	ENST00000221347.6	-	29	13053	c.13045_splice	c.e29-1	p.E4349_splice		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4349						extracellular region	protein binding	p.E4349G(2)		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)			GCAGGTGATCTCTGTGGGCAG	0.607000													47	120					0	0	0.011902	0	0
OR56A4	120793	broad.mit.edu	37	11	6024118	6024118	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:6024118G>T	ENST00000330728.4	-	1	306	c.261C>A	c.(259-261)agC>agA	p.S87R		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S87R(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGAGAAGGCTGAGGGGCA	0.592000													31	77					6.04164e-23	7.91591e-23	0.010818	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611402	84611402	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:84611402G>T	ENST00000286744.5	+	18	2396	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.Q724H	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	724	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.Q724H(2)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGAATTCAGACCCGAGATG	0.532000													33	120					1.26612e-14	1.52661e-14	0.015359	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686243	125686243	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:125686243A>G	ENST00000371126.1	-	1	591	c.349T>C	c.(349-351)Tgt>Cgt	p.C117R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	117								p.C117R(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCGTGTTACACTTGGTGCCG	0.642000													31	82					0	0	0.007291	0	0
MBD1	4152	broad.mit.edu	37	18	47799766	47799766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:47799766C>A	ENST00000591416.1	-	13	1953	c.1522G>T	c.(1522-1524)Gag>Tag	p.E508*	MBD1_ENST00000588937.1_Intron|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000590208.1_Nonsense_Mutation_p.E508*|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000398493.1_Nonsense_Mutation_p.E452*|MBD1_ENST00000269468.5_Nonsense_Mutation_p.E508*|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000398495.2_Nonsense_Mutation_p.E477*|MBD1_ENST00000382948.5_Nonsense_Mutation_p.E508*|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000353909.3_Nonsense_Mutation_p.E459*|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000585672.1_Nonsense_Mutation_p.E458*|MBD1_ENST00000585595.1_Nonsense_Mutation_p.E533*|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000347968.3_Nonsense_Mutation_p.E452*|MBD1_ENST00000457839.2_Nonsense_Mutation_p.E533*|MBD1_ENST00000424334.2_Nonsense_Mutation_p.E559*			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	508					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.E533*(2)|p.E508*(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GGTGTCCACTCGTCCTGGGTA	0.607000													35	95					6.05902e-23	7.92495e-23	0.017118	1	0
PACRG	135138	broad.mit.edu	37	6	163483243	163483243	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:163483243A>C	ENST00000337019.3	+	4	577	c.353A>C	c.(352-354)gAa>gCa	p.E118A	PACRG_ENST00000366888.2_Missense_Mutation_p.E118A|PACRG_ENST00000366889.2_Missense_Mutation_p.E118A	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	118								p.E118A(2)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GGGCTTTGTGAAATGACATTT	0.433000													22	104					0	0	0.016522	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254961	30254961	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:30254961A>T	ENST00000361644.2	+	5	1657	c.920A>T	c.(919-921)tAt>tTt	p.Y307F	MAGEB3_ENST00000378986.1_Missense_Mutation_p.Y307F	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	307	MAGE.							p.Y307V(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CAGTTCTGGTATGAAGAGGCT	0.512000													20	25					0	0	0.007413	0	0
DOCK11	139818	broad.mit.edu	37	X	117788700	117788700	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:117788700T>A	ENST00000276204.6	+	43	4905	c.4831T>A	c.(4831-4833)Tat>Aat	p.Y1611N	DOCK11_ENST00000276202.7_Missense_Mutation_p.Y1611N			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1611	DHR-2.				blood coagulation	cytosol	GTP binding	p.Y1611N(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGCCAAGTCCTATGCAAGCAC	0.433000													219	38					0	0	0.014410	0	0
MAP3K9	4293	broad.mit.edu	37	14	71197442	71197442	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:71197442C>A	ENST00000554752.2	-	12	2969	c.2970G>T	c.(2968-2970)gaG>gaT	p.E990D	MAP3K9_ENST00000554146.1_Missense_Mutation_p.E718D|MAP3K9_ENST00000553414.1_Missense_Mutation_p.E723D|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E967D|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E1004D			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	990					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E1004D(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGCAGAAACTCCAGAGTCT	0.627000													44	79					1.0331e-37	1.42782e-37	0.014410	1	0
PRDM9	56979	broad.mit.edu	37	5	23522757	23522757	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:23522757C>T	ENST00000296682.3	+	8	827	c.645C>T	c.(643-645)agC>agT	p.S215S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	215					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.S215S(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCATTGACAGCTGTGCTGCCC	0.502000										HNSCC(3;0.000094)			11	107					0	0	0.013537	0	0
SLC12A5	57468	broad.mit.edu	37	20	44671860	44671860	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:44671860C>A	ENST00000454036.1	+	9	1280	c.1204C>A	c.(1204-1206)Ctg>Atg	p.L402M	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.L379M	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	402					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.L379M(2)		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)	CTCGGTGGGCCTGGCCGATGG	0.577000													64	553					3.4266e-16	4.19856e-16	0.014410	1	0
SLC5A8	160728	broad.mit.edu	37	12	101576622	101576622	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:101576622G>A	ENST00000536262.2	-	9	1682	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	375					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.S375L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTCTGAGAGCGATCTGAAGTA	0.368000													14	64					0	0	0.028581	0	0
CDH11	1009	broad.mit.edu	37	16	64981591	64981591	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:64981591T>C	ENST00000268603.4	-	13	2921	c.2306A>G	c.(2305-2307)tAt>tGt	p.Y769C	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.Y643C	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	769					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.Y769C(2)		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)		TAGATAATCATAGTCCAAGTC	0.448000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			69	135					0	0	0.014410	0	0
EEF1A1	1915	broad.mit.edu	37	6	74228549	74228549	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:74228549T>C	ENST00000316292.9	-	4	1635	c.644A>G	c.(643-645)aAa>aGa	p.K215R	EEF1A1_ENST00000309268.6_Missense_Mutation_p.K215R|EEF1A1_ENST00000331523.2_Missense_Mutation_p.K215R|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	215						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.K215R(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACGGGTGACTTTCCATCCCTT	0.502000											OREG0003891|OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	32	51					0	0	0.010818	0	0
TTN	7273	broad.mit.edu	37	2	179639767	179639767	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:179639767G>T	ENST00000589042.1	-	29	6895	c.6671C>A	c.(6670-6672)tCt>tAt	p.S2224Y	TTN_ENST00000359218.5_Missense_Mutation_p.S2178Y|TTN_ENST00000460472.2_Missense_Mutation_p.S2178Y|TTN_ENST00000360870.5_Missense_Mutation_p.S2224Y|TTN_ENST00000342175.6_Missense_Mutation_p.S2178Y|TTN_ENST00000591111.1_Missense_Mutation_p.S2224Y|TTN_ENST00000342992.6_Missense_Mutation_p.S2224Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1961	Ig-like 11.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S2178Y(6)|p.S2224Y(6)		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)			CTTTCTGTCAGAGTGCATCCT	0.398000													44	85					1.61572e-30	2.18123e-30	0.010771	1	0
KEL	3792	broad.mit.edu	37	7	142640627	142640627	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:142640627A>G	ENST00000355265.2	-	15	2123	c.1649T>C	c.(1648-1650)gTa>gCa	p.V550A		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	550					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.V550A(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGAAAGACTACCACATGGTC	0.547000													25	77					0	0	0.007291	0	0
LIPC	3990	broad.mit.edu	37	15	58830684	58830684	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:58830684C>A	ENST00000414170.3	+	3	528	c.241C>A	c.(241-243)Ctg>Atg	p.L81M	LIPC_ENST00000356113.6_Missense_Mutation_p.L81M|LIPC_ENST00000299022.5_Missense_Mutation_p.L81M|LIPC_ENST00000433326.2_Missense_Mutation_p.L81M			P11150	LIPC_HUMAN	lipase, hepatic	81					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	p.L81M(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CAACTCCTCCCTGCCTCTGGT	0.473000													65	200					4.46356e-37	6.15776e-37	0.014410	1	0
OSBPL8	114882	broad.mit.edu	37	12	76786490	76786490	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:76786490G>A	ENST00000261183.3	-	10	1279	c.800C>T	c.(799-801)tCt>tTt	p.S267F	OSBPL8_ENST00000393249.2_Missense_Mutation_p.S225F|OSBPL8_ENST00000393250.4_Missense_Mutation_p.S225F	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	267					lipid transport		lipid binding	p.S267F(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AAGAAGACTAGAACATTTCAA	0.383000													15	66					0	0	0.024245	0	0
HIVEP2	3097	broad.mit.edu	37	6	143080972	143080972	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:143080972G>C	ENST00000367603.2	-	9	7195	c.6453C>G	c.(6451-6453)taC>taG	p.Y2151*	HIVEP2_ENST00000367604.1_Nonsense_Mutation_p.Y2151*|HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.Y2151*	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y2151*(2)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTGGGTTATGGTATAAAGCCC	0.438000													23	90					0	0	0.016522	0	0
RPS15	6209	broad.mit.edu	37	19	1440170	1440170	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:1440170G>A	ENST00000591804.2	+	4	469	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	RPS15_ENST00000591032.1_Missense_Mutation_p.R48Q|RPS15_ENST00000593052.1_Missense_Mutation_p.R88Q|RPS15_ENST00000589656.2_Missense_Mutation_p.R81Q|RPS15_ENST00000586686.2_Missense_Mutation_p.R81Q|RPS15_ENST00000585665.1_Missense_Mutation_p.R48Q|RPS15_ENST00000233609.4_Missense_Mutation_p.R54Q|RPS15_ENST00000586096.2_Missense_Mutation_p.R81Q			P62841	RS15_HUMAN	ribosomal protein S15	81					endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|protein binding|RNA binding	p.R81Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		ACGCACCTGCGGGACATGATC	0.637000													4	28					0	0	0.014758	0	0
ACBD4	79777	broad.mit.edu	37	17	43215142	43215142	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:43215142G>A	ENST00000431281.1	+	9	1025	c.556G>A	c.(556-558)Ggg>Agg	p.G186R	ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000398322.3_Missense_Mutation_p.R173K|ACBD4_ENST00000376955.4_Missense_Mutation_p.R173K|ACBD4_ENST00000586346.1_Missense_Mutation_p.G186R|ACBD4_ENST00000321854.8_Missense_Mutation_p.R173K|ACBD4_ENST00000592162.1_Missense_Mutation_p.R173K|ACBD4_ENST00000591859.1_Missense_Mutation_p.G186R	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	169							fatty-acyl-CoA binding	p.R173K(2)|p.G186R(2)		kidney(1)|lung(3)|ovary(1)	5						CATTCACCCAGGGACCTGGAC	0.597000													115	336					0	0	0.014410	0	0
ZNF80	7634	broad.mit.edu	37	3	113955524	113955524	+	Missense_Mutation	SNP	T	T	C	rs143330045		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:113955524T>C	ENST00000482457.2	-	1	901	c.398A>G	c.(397-399)tAt>tGt	p.Y133C		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	133						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y133C(2)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GCTGCACTCATAGGGCTTCTC	0.537000													8	83					0	0	0.003080	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889431	23889431	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:23889431A>T	ENST00000532292.1	-	1	1744	c.1650T>A	c.(1648-1650)acT>acA	p.T550T		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)		TGAGCTTCTTAGTATTTCCAA	0.473000													4	65					0	0	0.009096	0	0
NMBR	4829	broad.mit.edu	37	6	142397123	142397123	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:142397123A>T	ENST00000258042.1	-	3	975	c.835T>A	c.(835-837)Tgg>Agg	p.W279R		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	279					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	p.W279R(2)		breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTTGGAAACCAACAGAAGATG	0.413000													38	59					0	0	0.021022	0	0
TCP11L1	55346	broad.mit.edu	37	11	33090376	33090376	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:33090376G>T	ENST00000334274.4	+	9	1698	c.1298G>T	c.(1297-1299)aGt>aTt	p.S433I	TCP11L1_ENST00000432887.1_Missense_Mutation_p.S433I|TCP11L1_ENST00000531632.2_Missense_Mutation_p.S433I|TCP11L1_ENST00000324357.9_Missense_Mutation_p.S212I	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	433										kidney(1)|liver(2)|lung(2)|skin(1)	6						GCCGTGGCCAGTCCCGATGAC	0.622000													17	93					4.75885e-15	5.77478e-15	0.004990	1	0
TTC7A	57217	broad.mit.edu	37	2	47256494	47256494	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:47256494G>T	ENST00000319190.5	+	15	2141	c.1773G>T	c.(1771-1773)atG>atT	p.M591I	TTC7A_ENST00000394850.2_Missense_Mutation_p.M591I|TTC7A_ENST00000409245.1_Missense_Mutation_p.M557I|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_Missense_Mutation_p.M237I	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	591							binding	p.M591I(1)|p.M591_A592>IS(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TTGTCAACATGGCCATCACCG	0.617000													51	137					2.84144e-21	3.66574e-21	0.014410	1	0
WASH4P	374677	broad.mit.edu	37	16	66989	66989	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:66989A>C	ENST00000326592.9	-	5	1305	c.647T>G	c.(646-648)cTg>cGg	p.L216R															p.L216R(1)									CTCTGCCCCCAGCATCACATG	0.582000													9	29					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179497651	179497651	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:179497651C>A	ENST00000589042.1	-	234	43431	c.43207G>T	c.(43207-43209)Gtg>Ttg	p.V14403L	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V5463L|TTN_ENST00000460472.2_Missense_Mutation_p.V5338L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V5530L|TTN_ENST00000591111.1_Missense_Mutation_p.V12762L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11835L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12762							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V11835L(4)|p.V5463L(2)|p.V5530L(2)|p.V5338L(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACCTTTCACTTTCAGATTG	0.438000													28	198					9.39395e-14	1.12193e-13	0.006320	1	0
SURF4	6836	broad.mit.edu	37	9	136230446	136230446	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:136230446C>A	ENST00000371989.3	-	6	862	c.733G>T	c.(733-735)Gtg>Ttg	p.V245L	SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'UTR	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	245						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	p.V245L(2)		kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CCCCCAATCACCGACATGGTC	0.532000													14	54					2.31682e-05	2.42929e-05	0.024245	1	0
SLC26A5	375611	broad.mit.edu	37	7	103017307	103017307	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:103017307A>T	ENST00000306312.3	-	19	2250	c.1989T>A	c.(1987-1989)atT>atA	p.I663I	SLC26A5_ENST00000432958.2_Silent_p.I631I|SLC26A5_ENST00000393723.1_Silent_p.I633I|SLC26A5_ENST00000393727.1_Silent_p.I665I|SLC26A5_ENST00000393729.1_Silent_p.I626I|SLC26A5_ENST00000393730.1_Silent_p.I631I|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Silent_p.I96I|SLC26A5_ENST00000339444.6_Silent_p.I663I	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	663	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.I663I(4)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATTCTTTTACAATCTGTAATA	0.323000													29	99					0	0	0.007291	0	0
LCE3A	353142	broad.mit.edu	37	1	152595433	152595433	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:152595433C>G	ENST00000335674.1	-	1	146	c.147G>C	c.(145-147)ctG>ctC	p.L49L		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	49					keratinization			p.L49L(2)		endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGTGACTCAGGCAGCAGC	0.657000													12	134					0	0	0.028581	0	0
ARMC4	55130	broad.mit.edu	37	10	28260243	28260243	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:28260243C>A	ENST00000305242.5	-	8	1029		c.e8-1		ARMC4_ENST00000480504.1_Splice_Site|ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000537576.1_Splice_Site|ARMC4_ENST00000239715.3_Splice_Site	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4								binding	p.?(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGCTAATTCCCTTTATTTAAA	0.388000													7	62					0.00198382	0.00203496	0.001984	1	0
TROAP	10024	broad.mit.edu	37	12	49719372	49719372	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:49719372G>T	ENST00000551245.1	+	4	537	c.426G>T	c.(424-426)ggG>ggT	p.G142G	TROAP_ENST00000257909.3_Silent_p.G142G			Q12815	TROAP_HUMAN	trophinin associated protein	142					cell adhesion	cytoplasm		p.G142G(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GTCACCTGGGGCGCCAGCCTA	0.582000													22	92					1.50039e-11	1.73972e-11	0.012319	1	0
OTUD7A	161725	broad.mit.edu	37	15	31862303	31862303	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:31862303A>G	ENST00000382902.1	-	2	341	c.249T>C	c.(247-249)ggT>ggC	p.G83G	OTUD7A_ENST00000307050.4_Silent_p.G83G			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	83						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.G83G(2)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCTGCTTGGGACCCCGCCCTT	0.622000													12	94					0	0	0.028581	0	0
SLC45A3	85414	broad.mit.edu	37	1	205631992	205631992	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:205631992C>G	ENST00000367145.3	-	3	1222	c.927G>C	c.(925-927)ccG>ccC	p.P309P		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	309					transmembrane transport	integral to membrane		p.P309P(2)	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)			CCTCGGTGCCCGGCTCAGCTC	0.632000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								27	91					0	0	0.027356	0	0
DDX60L	91351	broad.mit.edu	37	4	169348279	169348279	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:169348279A>T	ENST00000511577.1	-	14	2119	c.1872T>A	c.(1870-1872)gtT>gtA	p.V624V	DDX60L_ENST00000505890.1_Silent_p.V624V|DDX60L_ENST00000260184.7_Silent_p.V624V			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	624							ATP binding|ATP-dependent helicase activity|RNA binding	p.V624V(2)		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)		CTAACATTTCAACTCCAAATT	0.343000													8	14					0	0	0.003080	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21349976	21349976	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:21349976C>A	ENST00000256958.2	+	8	920	c.824C>A	c.(823-825)cCa>cAa	p.P275Q		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	275					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.P275Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TCTTCCATACCATTCTTTTTC	0.393000													19	332					1.56452e-12	1.84234e-12	0.007413	1	0
HDGFL1	154150	broad.mit.edu	37	6	22569979	22569979	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:22569979T>A	ENST00000510882.2	+	1	185	c.175T>A	c.(175-177)Tac>Aac	p.Y59N	HDGFL1_ENST00000230012.3_Missense_Mutation_p.Y59N			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	59	PWWP.							p.Y59N(2)		kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					CCTGTTCCCGTACAAGGAGTG	0.617000													27	76					0	0	0.006320	0	0
DSG3	1830	broad.mit.edu	37	18	29055815	29055815	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:29055815T>A	ENST00000257189.4	+	16	2675	c.2592T>A	c.(2590-2592)gaT>gaA	p.D864E		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	864					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.D864E(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTGGTGTTGATGGTGAAGGCA	0.448000													27	114					0	0	0.027356	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434278	42434278	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:42434278G>A	ENST00000397272.3	-	20	2551	c.2460C>T	c.(2458-2460)ctC>ctT	p.L820L	PLA2G4F_ENST00000382396.4_Silent_p.L818L	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	818	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	p.L818L(2)		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)		TGTATCGACTGAGGGCCACCA	0.587000													11	70					0	0	0.008291	0	0
LRP1B	53353	broad.mit.edu	37	2	141032165	141032165	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:141032165C>A	ENST00000389484.3	-	85	13941	c.12970G>T	c.(12970-12972)Gtg>Ttg	p.V4324L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4324	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V4324L(2)		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)		TGGTGGCACACGTCTAGGAAA	0.353000										TSP Lung(27;0.18)			24	46					2.98393e-07	3.2552e-07	0.016522	1	0
FAF2	23197	broad.mit.edu	37	5	175919294	175919294	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:175919294G>A	ENST00000261942.6	+	5	497	c.444G>A	c.(442-444)ggG>ggA	p.G148G		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	148					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	p.G148G(2)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGAAATATGGGAGGGCACACC	0.488000													13	73					0	0	0.024245	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686656	108686656	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:108686656C>T	ENST00000397688.2	-	3	447	c.78G>A	c.(76-78)ttG>ttA	p.L26L	CMKLR1_ENST00000312143.7_Silent_p.L28L|CMKLR1_ENST00000552995.1_Silent_p.L26L|CMKLR1_ENST00000412676.1_Silent_p.L28L|CMKLR1_ENST00000550402.1_Silent_p.L28L	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	28					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.L26L(2)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ATAAGTCCTCCAAAACCACAA	0.493000													30	49					0	0	0.007291	0	0
RMI1	80010	broad.mit.edu	37	9	86617462	86617462	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:86617462C>G	ENST00000325875.3	+	3	1893	c.1561C>G	c.(1561-1563)Ctc>Gtc	p.L521V		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	521					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						AACTGGAAATCTCTCAAGTTC	0.378000													5	243					0	0	0.021553	0	0
PTPN21	11099	broad.mit.edu	37	14	89016693	89016693	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:89016693C>A	ENST00000556564.1	-	2	353	c.69G>T	c.(67-69)ctG>ctT	p.L23L	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Silent_p.L23L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	23	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	p.L23L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCCGGGCAACCAGGCAACTCT	0.557000													46	138					5.2432e-18	6.57357e-18	0.014410	1	0
NTRK3	4916	broad.mit.edu	37	15	88678465	88678465	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:88678465C>A	ENST00000394480.1	-	10	1392	c.1071G>T	c.(1069-1071)gaG>gaT	p.E357D	NTRK3_ENST00000357724.2_Missense_Mutation_p.E357D|NTRK3_ENST00000317501.3_Missense_Mutation_p.E357D|NTRK3_ENST00000542733.2_Missense_Mutation_p.E259D|NTRK3_ENST00000360948.2_Missense_Mutation_p.E357D|NTRK3_ENST00000558676.1_Missense_Mutation_p.E357D|NTRK3_ENST00000557856.1_Missense_Mutation_p.E357D|NTRK3_ENST00000355254.2_Missense_Mutation_p.E357D|NTRK3_ENST00000540489.2_Missense_Mutation_p.E357D	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	357	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E357D(6)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCGGAAATCTCTCCCTCTT	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			26	135					7.76418e-22	1.00681e-21	0.027356	1	0
OR52B2	255725	broad.mit.edu	37	11	6190952	6190952	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:6190952A>G	ENST00000530810.1	-	1	686	c.605T>C	c.(604-606)tTc>tCc	p.F202S	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F202S(4)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCACTGAGAAGCCATACCA	0.488000													9	40					0	0	0.013537	0	0
LDLRAD4	753	broad.mit.edu	37	18	13645351	13645351	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:13645351A>T	ENST00000361205.4	+	7	1284	c.616A>T	c.(616-618)Agg>Tgg	p.R206W	LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R129W|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R188W|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.R108W|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.R206W|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R151W|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R169W	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4									p.R169W(2)|p.R206W(2)									AGAGTCCGTGAGGGCCCCACC	0.587000													46	147					0	0	0.013114	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996562	19996562	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:19996562C>A	ENST00000391403.2	-	1	1316	c.1213G>T	c.(1213-1215)Gcc>Tcc	p.A405S		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	405						integral to membrane		p.A405S(2)		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)					AGATCTTTGGCTCGCTTTCGG	0.383000													36	277					6.97489e-18	8.71573e-18	0.021022	1	0
AMIGO2	347902	broad.mit.edu	37	12	47471976	47471976	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:47471976A>G	ENST00000266581.4	-	2	1276	c.810T>C	c.(808-810)cgT>cgC	p.R270R	AMIGO2_ENST00000429635.1_Silent_p.R270R|AMIGO2_ENST00000550413.1_Silent_p.R270R|AMIGO2_ENST00000321382.3_Silent_p.R270R	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	270	LRRCT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		p.R270R(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GAAGTACCTGACGCGAGTGCC	0.493000													8	120					0	0	0.003080	0	0
SLC9A4	389015	broad.mit.edu	37	2	103141553	103141553	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:103141553G>A	ENST00000295269.4	+	10	2346	c.1889G>A	c.(1888-1890)cGc>cAc	p.R630H		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	630					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						ATTCTGATCCGCCGCCAGAAC	0.507000													17	324					0	0	0.007413	0	0
LIN9	286826	broad.mit.edu	37	1	226426782	226426782	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:226426782G>A	ENST00000328205.5	-	12	1728	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S	LIN9_ENST00000481685.1_Missense_Mutation_p.P360S|LIN9_ENST00000366801.1_Missense_Mutation_p.P344S	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	379					cell cycle|DNA replication	nucleoplasm		p.P395S(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATGCTGATGGGCATGGAATAT	0.343000													13	123					0	0	0.016723	0	0
POU6F2	11281	broad.mit.edu	37	7	39243834	39243834	+	Splice_Site	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:39243834G>C	ENST00000518318.2	+	3	233	c.190_splice	c.e3-1	p.G64_splice	POU6F2_ENST00000559001.1_Splice_Site_p.G56_splice|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Splice_Site_p.G64_splice			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	64					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G64A(2)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TGAATTCCAGGGGCTAGAGGA	0.473000													10	48					0	0	0.020292	0	0
COL17A1	1308	broad.mit.edu	37	10	105797421	105797421	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:105797421C>T	ENST00000353479.5	-	46	3471	c.3181G>A	c.(3181-3183)Gca>Aca	p.A1061T	COL17A1_ENST00000369733.3_Missense_Mutation_p.A1016T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1061	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACGTGGCTTGCCAGCTCTGAG	0.592000													4	111					0	0	0.009096	0	0
CCDC178	374864	broad.mit.edu	37	18	30554589	30554589	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:30554589C>A	ENST00000383096.3	-	22	2627	c.2445G>T	c.(2443-2445)gtG>gtT	p.V815V	CCDC178_ENST00000402325.1_Silent_p.V765V|CCDC178_ENST00000403303.1_Silent_p.V815V|CCDC178_ENST00000583930.1_Silent_p.V839V|CCDC178_ENST00000579947.1_Silent_p.V815V|CCDC178_ENST00000300227.8_Silent_p.V777V|CCDC178_ENST00000579916.1_Silent_p.V135V|CCDC178_ENST00000581852.1_Silent_p.V20V|CCDC178_ENST00000406524.2_Silent_p.V839V					coiled-coil domain containing 178									p.V777V(2)|p.V815V(2)									TGAAGAGGACCACCAGTTTGA	0.512000													16	43					2.35188e-11	2.72285e-11	0.006122	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73149304	73149304	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:73149304G>A	ENST00000286657.4	-	22	3203	c.3167C>T	c.(3166-3168)aCc>aTc	p.T1056I		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1056					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.T1056I(2)		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)			TGGTGGCAGGGTGCTACTGCG	0.463000													66	129					0	0	0.014410	0	0
MS4A7	58475	broad.mit.edu	37	11	60150636	60150636	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:60150636A>G	ENST00000358246.1	+	2	215	c.22A>G	c.(22-24)Atg>Gtg	p.M8V	MS4A7_ENST00000300184.3_Missense_Mutation_p.M8V|MS4A7_ENST00000530234.2_Missense_Mutation_p.M8V|MS4A7_ENST00000534016.1_Missense_Mutation_p.M8V|MS4A14_ENST00000531787.1_Intron	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	8						integral to membrane	receptor activity	p.M8V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ATCCCAAACCATGGGGGTTTC	0.453000													57	108					0	0	0.014410	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21350017	21350017	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:21350017G>A	ENST00000256958.2	+	8	961	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	289					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.E289K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ACCACAAAAAGAAAGAAAAGC	0.353000													12	276					0	0	0.020292	0	0
KIF21A	55605	broad.mit.edu	37	12	39716581	39716581	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:39716581G>A	ENST00000395670.3	-	26	3979	c.3560C>T	c.(3559-3561)aCa>aTa	p.T1187I	KIF21A_ENST00000544797.2_Missense_Mutation_p.T1167I|KIF21A_ENST00000361418.5_Missense_Mutation_p.T1187I|KIF21A_ENST00000541463.2_Missense_Mutation_p.T1151I|KIF21A_ENST00000361961.3_Missense_Mutation_p.T1174I			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1187					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.T1174I(2)		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)				TGCAACAGGTGTGAGAGGGCC	0.498000													55	339					0	0	0.014410	0	0
ST14	6768	broad.mit.edu	37	11	130058061	130058061	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:130058061A>G	ENST00000278742.5	+	2	552	c.134A>G	c.(133-135)aAg>aGg	p.K45R		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	45					proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.K45R(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AACAACGTCAAGAAGGTGGAA	0.617000													36	51					0	0	0.014410	0	0
AKAP11	11215	broad.mit.edu	37	13	42876762	42876762	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:42876762G>C	ENST00000025301.2	+	8	4055	c.3880G>C	c.(3880-3882)Ggt>Cgt	p.G1294R		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1294					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTATGCTGATGGTGACGAAGA	0.398000													7	80					0	0	0.003080	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683293	84683293	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:84683293G>T	ENST00000286744.5	+	24	4197		c.e24-1		ADAMTSL3_ENST00000567476.1_Splice_Site	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3							proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.?(2)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGTTCCAAAGGTGTCCCTCA	0.413000													32	138					3.90053e-15	4.74083e-15	0.012213	1	0
PDILT	204474	broad.mit.edu	37	16	20410590	20410590	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:20410590C>T	ENST00000302451.4	-	2	281	c.33G>A	c.(31-33)gtG>gtA	p.V11V		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	11					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.V11V(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CACAAGCGGCCACCAGCAGCA	0.587000													37	176					0	0	0.009718	0	0
RGS1	5996	broad.mit.edu	37	1	192547444	192547444	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:192547444G>A	ENST00000367459.3	+	4	439	c.373G>A	c.(373-375)Gag>Aag	p.E125K	RGS1_ENST00000469578.2_Missense_Mutation_p.E125K	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	125	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.E125R(1)|p.E125K(1)|p.E112R(1)|p.E112K(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TAAGAAAACAGAGTCTGATCT	0.363000													62	198					0	0	0.014410	0	0
FAM135B	51059	broad.mit.edu	37	8	139144901	139144901	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:139144901C>A	ENST00000395297.1	-	20	4326	c.4156G>T	c.(4156-4158)Gtg>Ttg	p.V1386L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1386								p.V1386L(4)		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)			GAATCCAGCACAGCGATGTGA	0.522000										HNSCC(54;0.14)			173	228					1.50475e-111	2.18347e-111	0.014410	1	0
GABRB3	2562	broad.mit.edu	37	15	26806314	26806314	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:26806314G>T	ENST00000541819.2	-	9	1115	c.1013C>A	c.(1012-1014)aCt>aAt	p.T338N	GABRB3_ENST00000299267.4_Missense_Mutation_p.T282N|GABRB3_ENST00000400188.3_Missense_Mutation_p.T211N|GABRB3_ENST00000311550.5_Missense_Mutation_p.T282N|GABRB3_ENST00000545868.1_Missense_Mutation_p.T197N			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	282					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	p.T282N(4)|p.T338N(2)		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)	TGTCAGCACAGTTGTGATCCC	0.438000													32	104					1.99505e-19	2.53916e-19	0.012213	1	0
FKBP3	2287	broad.mit.edu	37	14	45603642	45603642	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:45603642T>A	ENST00000216330.3	-	2	428	c.18A>T	c.(16-18)ccA>ccT	p.P6P	FKBP3_ENST00000396062.3_Silent_p.P6P			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	6					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity	p.P6P(2)		NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						ACGCCCGCTGTGGAACGGCCG	0.667000													17	26					0	0	0.010818	0	0
FAP	2191	broad.mit.edu	37	2	163055370	163055370	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:163055370A>T	ENST00000188790.4	-	16	1506	c.1299T>A	c.(1297-1299)ccT>ccA	p.P433P	FAP_ENST00000443424.1_Silent_p.P408P	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	433					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.P433P(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TCTTGCTTGGAGGATAGCTTC	0.373000													21	88					0	0	0.010504	0	0
EMCN	51705	broad.mit.edu	37	4	101344211	101344211	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:101344211C>T	ENST00000296420.4	-	7	713	c.535G>A	c.(535-537)Gca>Aca	p.A179T	EMCN_ENST00000305864.3_Intron|EMCN_ENST00000511970.1_Missense_Mutation_p.A166T	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	179						extracellular region|integral to membrane|plasma membrane		p.A179T(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		GAAGTGCTTGCATTTTTTCCA	0.418000													17	53					0	0	0.006122	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2307157	2307157	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:2307157C>T	ENST00000290974.2	-	8	1249	c.910G>A	c.(910-912)Gct>Act	p.A304T	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A234T|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A274T	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	304					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.A304T(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCCAGGGCAGCGGGTCCCTGC	0.657000													43	63					0	0	0.008740	0	0
XCL1	6375	broad.mit.edu	37	1	168550295	168550295	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:168550295T>C	ENST00000367818.3	+	3	347	c.182T>C	c.(181-183)aTt>aCt	p.I61T		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	61					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	p.I61T(2)		kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					TACAGTTTTATTACCAAACGT	0.468000													30	46					0	0	0.008361	0	0
HECW2	57520	broad.mit.edu	37	2	197182014	197182014	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:197182014G>T	ENST00000260983.2	-	10	2600	c.2418C>A	c.(2416-2418)gaC>gaA	p.D806E	HECW2_ENST00000409111.1_Missense_Mutation_p.D450E	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	806	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.D806E(2)		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						GGAGAGCCTCGTCCACCCTCT	0.522000													15	43					1.5739e-10	1.80556e-10	0.028581	1	0
SLC7A14	57709	broad.mit.edu	37	3	170216672	170216672	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:170216672C>A	ENST00000231706.4	-	4	858	c.541_splice	c.e4-1	p.G181_splice	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	181						integral to membrane	amino acid transmembrane transporter activity	p.G181G(3)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CTTCACCTTTCCCTAGAGAGG	0.488000													22	62					1.96292e-10	2.23826e-10	0.010504	1	0
NCAPH2	29781	broad.mit.edu	37	22	50960175	50960175	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:50960175C>A	ENST00000395701.3	+	12	1100	c.1006C>A	c.(1006-1008)Cct>Act	p.P336T	NCAPH2_ENST00000420993.2_Missense_Mutation_p.P336T|NCAPH2_ENST00000299821.11_Missense_Mutation_p.P336T|NCAPH2_ENST00000520297.1_3'UTR			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	336					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CCCAGGTAGGCCTTACTCTGT	0.642000													7	199					5.4927e-09	6.15183e-09	0.004482	1	0
OLFM3	118427	broad.mit.edu	37	1	102271669	102271669	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:102271669C>A	ENST00000370103.4	-	5	875	c.662G>T	c.(661-663)tGg>tTg	p.W221L	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.W241L|OLFM3_ENST00000536598.1_3'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	241	Olfactomedin-like.					extracellular region		p.W221L(2)|p.W241L(2)		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)		GTCTGTCATCCAAGCACCAAA	0.408000													49	155					2.55665e-31	3.47006e-31	0.014410	1	0
OTX2	5015	broad.mit.edu	37	14	57268677	57268677	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:57268677C>T	ENST00000339475.5	-	5	946	c.670G>A	c.(670-672)Ggg>Agg	p.G224R	OTX2_ENST00000408990.3_Missense_Mutation_p.G216R|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.G216R	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	216					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E 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	p.G224R(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					AGTGTGGCCCCTGGTCCGGGA	0.527000													27	112					0	0	0.006320	0	0
NPAT	4863	broad.mit.edu	37	11	108040747	108040747	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:108040747G>C	ENST00000278612.8	-	14	2914	c.2809C>G	c.(2809-2811)Cca>Gca	p.P937A		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	937					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.P937A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GGCTGGACTGGAGAGGCAATT	0.383000													108	116					0	0	0.014410	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118203902	118203902	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:118203902A>G	ENST00000369230.3	+	4	479	c.333A>G	c.(331-333)ctA>ctG	p.L111L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	111					lipid catabolic process	extracellular region	triglyceride lipase activity	p.L111L(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AGGTGTTGCTACAGCTGGAAG	0.358000													10	37					0	0	0.008291	0	0
NCDN	23154	broad.mit.edu	37	1	36029491	36029491	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:36029491G>A	ENST00000373243.2	+	6	2117	c.1734G>A	c.(1732-1734)cgG>cgA	p.R578R	NCDN_ENST00000373253.3_Silent_p.R561R|NCDN_ENST00000356090.4_Silent_p.R578R	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	578					neuron projection development	cytosol|dendrite|neuronal cell body		p.R561R(2)|p.R578R(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCATGGCCCGGCTCCTTAGCA	0.572000													24	59					0	0	0.016522	0	0
AGAP3	116988	broad.mit.edu	37	7	150817157	150817157	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:150817157C>T	ENST00000397238.2	+	8	1053	c.1053C>T	c.(1051-1053)cgC>cgT	p.R351R	AGAP3_ENST00000335367.3_Silent_p.R531R|AGAP3_ENST00000463381.1_Silent_p.R123R|AGAP3_ENST00000473312.1_Silent_p.R351R|AGAP3_ENST00000479901.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	315	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGGAGCTGCGCATCGAGACCA	0.657000													9	87					0	0	0.006214	0	0
HVCN1	84329	broad.mit.edu	37	12	111099066	111099066	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:111099066G>A	ENST00000356742.5	-	3	962	c.209C>T	c.(208-210)gCa>gTa	p.A70V	HVCN1_ENST00000548312.1_Missense_Mutation_p.A70V|HVCN1_ENST00000439744.2_Missense_Mutation_p.A50V|HVCN1_ENST00000242607.8_Missense_Mutation_p.A70V			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	70					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	p.A70V(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GTCAGGGGCTGCAGCTCTGCC	0.607000													10	50					0	0	0.016723	0	0
ACTN2	88	broad.mit.edu	37	1	236889278	236889278	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:236889278C>A	ENST00000366578.4	+	5	660	c.494C>A	c.(493-495)aCt>aAt	p.T165N	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.T165N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	165	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.T165N(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CAGAGGAAAACTGCTCCTTAT	0.478000													13	324					7.93312e-07	8.59232e-07	0.020292	1	0
TAF1L	138474	broad.mit.edu	37	9	32630480	32630480	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:32630480G>T	ENST00000242310.4	-	1	5187	c.5098C>A	c.(5098-5100)Cca>Aca	p.P1700T		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1700					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	p.P1700T(1)		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)		TGTTTTTCTGGAGTGGCAGTG	0.463000													86	202					1.42954e-44	2.01254e-44	0.014410	1	0
CUL2	8453	broad.mit.edu	37	10	35327986	35327986	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:35327986C>A	ENST00000374748.1	-	10	1052	c.739G>T	c.(739-741)Gaa>Taa	p.E247*	CUL2_ENST00000374749.3_Nonsense_Mutation_p.E247*|CUL2_ENST00000602371.1_Nonsense_Mutation_p.E190*|CUL2_ENST00000374751.3_Nonsense_Mutation_p.E247*|CUL2_ENST00000537177.1_Nonsense_Mutation_p.E266*|CUL2_ENST00000374742.1_Nonsense_Mutation_p.E247*|CUL2_ENST00000374746.1_Nonsense_Mutation_p.E247*			Q13617	CUL2_HUMAN	cullin 2	247					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	p.E247*(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CATCGAATTTCTTCATCTTTT	0.318000													6	54					0.00198382	0.00203496	0.001984	1	0
ALPP	250	broad.mit.edu	37	2	233245175	233245175	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:233245175C>T	ENST00000392027.2	+	7	1107	c.838C>T	c.(838-840)Ctg>Ttg	p.L280L	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	280						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)		GCAGGCTTCCCTGGACCCGTC	0.627000													9	249					0	0	0.010729	0	0
PCNT	5116	broad.mit.edu	37	21	47786561	47786561	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr21:47786561A>G	ENST00000359568.5	+	15	2779	c.2672A>G	c.(2671-2673)cAg>cGg	p.Q891R	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	891				Missing (in Ref. 1; AAD10838).	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)					GCCTTCCTGCAGGAGGCCCAG	0.562000													8	87					0	0	0.010729	0	0
RYR2	6262	broad.mit.edu	37	1	237948113	237948113	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:237948113G>T	ENST00000366574.2	+	90	13418	c.13101G>T	c.(13099-13101)aaG>aaT	p.K4367N	RYR2_ENST00000360064.6_Missense_Mutation_p.K4373N|RYR2_ENST00000542537.1_Missense_Mutation_p.K4351N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4367					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	p.K4365_E4366>N*(2)		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)			CCGACTTAAAGGAGCTGACAG	0.532000													48	58					7.77092e-38	1.07597e-37	0.014410	1	0
OR8K5	219453	broad.mit.edu	37	11	55927514	55927514	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:55927514A>T	ENST00000313447.1	-	1	279	c.280T>A	c.(280-282)Tat>Aat	p.Y94N		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y94N(2)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CATGCATAATAGGAAATAGTA	0.403000													33	115					0	0	0.015359	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142567171	142567171	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:142567171A>T	ENST00000295992.3	-	3	642	c.336T>A	c.(334-336)ccT>ccA	p.P112P	PCOLCE2_ENST00000485766.1_Silent_p.P112P	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	112	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.P112P(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CAAGGGCTCCAGGCCGGAAAG	0.547000													51	94					0	0	0.014410	0	0
SPG20	23111	broad.mit.edu	37	13	36909952	36909952	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:36909952G>C	ENST00000451493.1	-	2	233	c.16C>G	c.(16-18)Caa>Gaa	p.Q6E	SPG20_ENST00000355182.4_Missense_Mutation_p.Q6E|SPG20_ENST00000494062.2_Missense_Mutation_p.Q6E|SPG20_ENST00000438666.2_Missense_Mutation_p.Q6E|SPG20_ENST00000495510.1_5'UTR	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	6					cell death	cytoplasm	ubiquitin protein ligase binding	p.Q6E(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TCTCCATTTTGTGGCTCTTGC	0.323000													51	58					0	0	0.014410	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242742789	242742789	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:242742789C>G	ENST00000192314.6	+	4	536	c.405C>G	c.(403-405)ttC>ttG	p.F135L		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	135					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.F135L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833)		ACGACACCTTCTACTTCTCCA	0.667000													7	18					0	0	0.003080	0	0
OR10A3	26496	broad.mit.edu	37	11	7961052	7961052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:7961052G>A	ENST00000360759.3	-	1	89	c.16C>T	c.(16-18)Caa>Taa	p.Q6*		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q6*(2)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACACAGCTTTGATTTTGTCTT	0.403000													46	84					0	0	0.010771	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21068974	21068974	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:21068974C>G	ENST00000381545.3	+	16	2121	c.1902C>G	c.(1900-1902)ttC>ttG	p.F634L	SLCO1B3_ENST00000553473.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F634L|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	634					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)					CTTTAAGATTCCCAGCACTTG	0.294000													5	173					0	0	0.021553	0	0
OR4K2	390431	broad.mit.edu	37	14	20345048	20345048	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:20345048T>A	ENST00000298642.2	+	1	658	c.622T>A	c.(622-624)Ttg>Atg	p.L208M		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L208M(1)		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)		CATAATTGCGTTGTCCTGTTT	0.398000													115	513					0	0	0.014410	0	0
HIST1H2AI	8329	broad.mit.edu	37	6	27776053	27776053	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:27776053C>A	ENST00000358739.3	+	1	155	c.66C>A	c.(64-66)gcC>gcA	p.A22A		NM_003509.2	NP_003500.1			histone cluster 1, H2ai											lung(3)	3						CTTCTCGGGCCGGGCTTCAGT	0.627000													15	188					4.4004e-07	4.77975e-07	0.018920	1	0
CNGA2	1260	broad.mit.edu	37	X	150912021	150912021	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:150912021A>G	ENST00000329903.4	+	6	1079	c.1046A>G	c.(1045-1047)gAg>gGg	p.E349G		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	349					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.E349G(2)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGATGAGGAGTACCTATTT	0.502000													26	229					0	0	0.018920	0	0
ADCY2	108	broad.mit.edu	37	5	7690926	7690926	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:7690926G>T	ENST00000338316.4	+	5	932	c.843G>T	c.(841-843)ctG>ctT	p.L281L	ADCY2_ENST00000513693.1_3'UTR|ADCY2_ENST00000537121.1_Silent_p.L101L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	281					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	p.L281L(2)		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						TCCACAACCTGTATGTGAAGC	0.557000													27	83					1.17739e-12	1.3908e-12	0.027356	1	0
FSHB	2488	broad.mit.edu	37	11	30255202	30255202	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:30255202C>A	ENST00000417547.1	+	3	284	c.245C>A	c.(244-246)cCc>cAc	p.P82H	FSHB_ENST00000533718.1_Missense_Mutation_p.P82H|FSHB_ENST00000254122.3_Missense_Mutation_p.P82H	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	82					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity	p.P82H(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GTGAGAGTGCCCGGCTGTGCT	0.502000													21	86					1.96292e-10	2.23826e-10	0.010504	1	0
CHPF2	54480	broad.mit.edu	37	7	150932245	150932245	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:150932245C>A	ENST00000035307.2	+	2	1888	c.375C>A	c.(373-375)gcC>gcA	p.A125A	CHPF2_ENST00000495645.1_Silent_p.A117A	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	125						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.A125A(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTACGGTGGCCCATCACTTCC	0.657000													45	138					1.7489e-18	2.20362e-18	0.011902	1	0
ATRNL1	26033	broad.mit.edu	37	10	117040877	117040877	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:117040877T>A	ENST00000355044.3	+	14	2239	c.2113T>A	c.(2113-2115)Tac>Aac	p.Y705N		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	705	PSI 2.					integral to membrane	sugar binding	p.Y705N(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGTCAAGAACTACACCAAATG	0.353000													23	46					0	0	0.012319	0	0
MAGED1	9500	broad.mit.edu	37	X	51637834	51637834	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:51637834G>T	ENST00000375695.2	+	3	310	c.157G>T	c.(157-159)Gat>Tat	p.D53Y	MAGED1_ENST00000375722.1_Intron|MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000375772.3_Intron	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	0					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	p.D53Y(2)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TCAACTCCGCGATCCGCCTGC	0.632000										Multiple Myeloma(10;0.10)			17	29					5.03518e-11	5.80274e-11	0.007413	1	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138713464	138713464	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:138713464C>G	ENST00000275766.1	-	3	755	c.744G>C	c.(742-744)aaG>aaC	p.K248N		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	248								p.K248N(2)		NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TTTCAAGCATCTTGTGCAGCT	0.403000													24	158					0	0	0.018920	0	0
ITGA2	3673	broad.mit.edu	37	5	52351515	52351515	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:52351515A>G	ENST00000296585.5	+	8	1070	c.927A>G	c.(925-927)atA>atG	p.I309M		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	309	VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	p.I309M(4)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GGTTTGGCATAGCAGTAAGTG	0.398000													24	151					0	0	0.014323	0	0
ADCY2	108	broad.mit.edu	37	5	7727285	7727285	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:7727285C>T	ENST00000338316.4	+	14	1871	c.1782C>T	c.(1780-1782)gcC>gcT	p.A594A	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.A414A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	594					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	p.A594A(1)		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						AGTACCGGGCCACGGCACTGC	0.507000													9	224					0	0	0.004482	0	0
GJA10	84694	broad.mit.edu	37	6	90604983	90604983	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:90604983G>T	ENST00000369352.1	+	1	796	c.796G>T	c.(796-798)Gtg>Ttg	p.V266L		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	266					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.V266L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GAAATATTCTGTGGCCCAGCA	0.413000													23	69					5.35356e-11	6.1509e-11	0.016522	1	0
KCNMA1	3778	broad.mit.edu	37	10	78708951	78708951	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:78708951G>C	ENST00000286627.5	-	21	3436	c.2484C>G	c.(2482-2484)ctC>ctG	p.L828L	KCNMA1_ENST00000404857.1_Silent_p.L869L|KCNMA1_ENST00000404771.3_Silent_p.L886L|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Silent_p.L828L|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000286628.8_Silent_p.L886L|KCNMA1_ENST00000354353.5_Silent_p.L889L|KCNMA1_ENST00000372440.1_Silent_p.L828L|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000406533.3_Silent_p.L890L|RP11-443A13.5_ENST00000426234.1_RNA	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	886					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	p.L890L(1)|p.L828L(1)		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)	ATTCCCGCTTGAGGTACTCAA	0.483000													9	188					0	0	0.008291	0	0
ZBBX	79740	broad.mit.edu	37	3	167078466	167078466	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:167078466G>T	ENST00000392766.2	-	7	659	c.319C>A	c.(319-321)Caa>Aaa	p.Q107K	ZBBX_ENST00000392764.1_Missense_Mutation_p.Q78K|ZBBX_ENST00000392767.2_Missense_Mutation_p.Q107K|ZBBX_ENST00000307529.5_Missense_Mutation_p.Q107K|ZBBX_ENST00000455345.2_Missense_Mutation_p.Q107K|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	107						intracellular	zinc ion binding	p.Q107K(4)		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						TATTTACCTTGAATCTGTTCC	0.269000													7	18					0.000157383	0.000163661	0.003080	1	0
AHNAK	79026	broad.mit.edu	37	11	62292744	62292744	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:62292744C>T	ENST00000378024.4	-	5	9419	c.9145G>A	c.(9145-9147)Gct>Act	p.A3049T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3049					nervous system development	nucleus	protein binding	p.A3049T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAAGGTCAGCCTTGGGCAGG	0.498000													15	423					0	0	0.020292	0	0
ARSB	411	broad.mit.edu	37	5	78135202	78135202	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:78135202G>A	ENST00000264914.4	-	6	1726	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	ARSB_ENST00000565165.1_Missense_Mutation_p.P397L|ARSB_ENST00000396151.3_Missense_Mutation_p.P397L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	397					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	p.P397L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CACGAAGTTCGGGTCAATATT	0.428000													24	84					0	0	0.024334	0	0
DGKB	1607	broad.mit.edu	37	7	14661113	14661113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:14661113G>A	ENST00000403951.2	-	15	1596	c.1177C>T	c.(1177-1179)Caa>Taa	p.Q393*	DGKB_ENST00000407950.1_Nonsense_Mutation_p.Q385*|DGKB_ENST00000402815.1_Nonsense_Mutation_p.Q392*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.Q393*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.Q374*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.Q393*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Nonsense_Mutation_p.Q393*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	393					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	p.Q393*(2)		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)	ACTGTTGATTGTCTTTCCTGT	0.294000													11	21					0	0	0.008291	0	0
LPAR4	2846	broad.mit.edu	37	X	78010954	78010954	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:78010954C>A	ENST00000435339.2	+	2	993	c.588C>A	c.(586-588)gtC>gtA	p.V196V	LPAR4_ENST00000373301.2_Silent_p.V196V	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	196						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.V196V(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCAAACGTGTCTGGAAGACTT	0.413000													9	27					0.000442599	0.000457736	0.006214	1	0
TNN	63923	broad.mit.edu	37	1	175063368	175063368	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:175063368G>A	ENST00000239462.4	+	7	1680	c.1567G>A	c.(1567-1569)Gct>Act	p.A523T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	523	Fibronectin type-III 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.A523T(2)		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)		GAGCAAGAAAGCTGACACCAA	0.532000													16	111					0	0	0.028581	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236626	26236626	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:26236626T>G	ENST00000354667.4	-	5	480	c.312A>C	c.(310-312)aaA>aaC	p.K104N	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.K92N	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	104	RRM 1.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	p.K104N(2)|p.K92N(2)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						GAGCCCCTGGTTTTCCAGATT	0.393000			T	ETV1	prostate								38	116					0	0	0.008740	0	0
MLIP	90523	broad.mit.edu	37	6	54025173	54025173	+	Missense_Mutation	SNP	T	T	A	rs142613357	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:54025173T>A	ENST00000514921.1	+	6	2378	c.2265T>A	c.(2263-2265)gaT>gaA	p.D755E	MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.D766E|MLIP_ENST00000370877.2_Missense_Mutation_p.D155E|MLIP_ENST00000274897.5_Missense_Mutation_p.D231E|MLIP_ENST00000370876.2_Intron			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	231						nuclear envelope|PML body	protein binding	p.D231E(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AGGCACTAGATGAACCAGCCA	0.383000													17	49					0	0	0.004990	0	0
MYH6	4624	broad.mit.edu	37	14	23851669	23851669	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:23851669G>T	ENST00000405093.3	-	38	5834	c.5764C>A	c.(5764-5766)Ctt>Att	p.L1922I	MYH6_ENST00000356287.3_Missense_Mutation_p.L1922I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1922					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	p.L1922I(2)		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)		TTGGCTCGAAGCTTGTTGACC	0.592000													33	135					2.61193e-14	3.12935e-14	0.009535	1	0
ZIC4	84107	broad.mit.edu	37	3	147108910	147108910	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:147108910C>T	ENST00000383075.3	-	4	1324	c.812G>A	c.(811-813)tGc>tAc	p.C271Y	ZIC4_ENST00000473123.1_Missense_Mutation_p.C271Y|ZIC4_ENST00000525172.2_Missense_Mutation_p.C321Y|ZIC4_ENST00000491672.1_Missense_Mutation_p.C65Y|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.C309Y|ZIC4_ENST00000484399.1_Missense_Mutation_p.C271Y	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	271						nucleus	DNA binding|zinc ion binding	p.C271Y(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCACTTGTCGCAGCCCCGCAC	0.637000													18	44					0	0	0.016522	0	0
GLRA2	2742	broad.mit.edu	37	X	14627186	14627186	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:14627186C>T	ENST00000218075.4	+	7	1319	c.789C>T	c.(787-789)atC>atT	p.I263I	GLRA2_ENST00000355020.4_Silent_p.I263I|GLRA2_ENST00000443437.2_Silent_p.I174I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	263					neuropeptide signaling pathway	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	p.I263I(4)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AGATGTACATCCCAAGCCTGC	0.433000													21	95					0	0	0.010504	0	0
RXFP3	51289	broad.mit.edu	37	5	33937437	33937437	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:33937437C>A	ENST00000330120.3	+	1	947	c.592C>A	c.(592-594)Cgg>Agg	p.R198R		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	198						integral to plasma membrane	N-formyl peptide receptor activity	p.R198R(2)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						AGGACACGGCCGGGGCGACTG	0.672000													42	64					2.61675e-31	3.54528e-31	0.013114	1	0
RIMS2	9699	broad.mit.edu	37	8	104927789	104927789	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:104927789A>C	ENST00000507740.1	+	5	1539	c.1303A>C	c.(1303-1305)Agt>Cgt	p.S435R	RIMS2_ENST00000406091.3_Missense_Mutation_p.S627R|RIMS2_ENST00000436393.2_Missense_Mutation_p.S405R|RIMS2_ENST00000262231.10_Missense_Mutation_p.S482R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	705					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S435R(2)|p.S710R(1)|p.S405R(1)|p.S627R(1)		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)			AAAAAAAGGAAGTTTAGCTGA	0.323000										HNSCC(12;0.0054)			6	99					0	0	0.003080	0	0
GALNT15	117248	broad.mit.edu	37	3	16254145	16254145	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:16254145G>T	ENST00000339732.5	+	6	1770	c.1267G>T	c.(1267-1269)Gat>Tat	p.D423Y	GALNT15_ENST00000437509.1_Missense_Mutation_p.D423Y	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15									p.D423Y(2)									CCAAAATCAGGATTCCCATTC	0.537000													53	112					3.19069e-20	4.08149e-20	0.014410	1	0
STAB2	55576	broad.mit.edu	37	12	104098343	104098343	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:104098343G>A	ENST00000388887.2	+	36	4055	c.3851G>A	c.(3850-3852)tGt>tAt	p.C1284Y		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1284					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	p.C1284Y(2)		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						AAGGGAAGATGTAGGACATGC	0.373000													18	37					0	0	0.004990	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925273	4925273	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrY:4925273C>G	ENST00000333703.4	+	4	889	c.376C>G	c.(376-378)Cat>Gat	p.H126D	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.H137D|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.H137D	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	137	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H137D(4)|p.H126D(2)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAGGGATGAGCATTGCTTTTA	0.408000													93	55					0	0	0.014410	0	0
HSPA8	3312	broad.mit.edu	37	11	122930824	122930824	+	Splice_Site	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:122930824C>T	ENST00000534624.1	-	4	840	c.564_splice	c.e4+1	p.K188_splice	HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000532636.1_Splice_Site_p.K188_splice|HSPA8_ENST00000453788.2_Splice_Site_p.K188_splice|HSPA8_ENST00000227378.3_Splice_Site_p.K188_splice|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000526110.1_Splice_Site_p.K169_splice	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	188	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	p.K188K(2)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		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;0.0279)		TGGTACATACCTTTTTGTCTA	0.368000													18	192					0	0	0.007413	0	0
HRG	3273	broad.mit.edu	37	3	186395193	186395193	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:186395193C>T	ENST00000232003.4	+	7	1179	c.1099C>T	c.(1099-1101)Cat>Tat	p.H367Y		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	367	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	p.H367Y(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		acaccatccccatgcacacca	0.512000													5	21					0	0	0.014758	0	0
ABCA8	10351	broad.mit.edu	37	17	66891114	66891114	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:66891114C>A	ENST00000269080.2	-	20	2822	c.2685G>T	c.(2683-2685)caG>caT	p.Q895H	ABCA8_ENST00000586539.1_Missense_Mutation_p.Q935H|ABCA8_ENST00000430352.2_Missense_Mutation_p.Q935H	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	895						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q895H(2)|p.Q895Q(1)		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)					AAGCTATGTTCTGGTGCTCCA	0.378000													23	84					3.7963e-18	4.76745e-18	0.018920	1	0
SPATA21	374955	broad.mit.edu	37	1	16727321	16727321	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:16727321C>T	ENST00000335496.1	-	11	1550	c.1068G>A	c.(1066-1068)cgG>cgA	p.R356R	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.R333R	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	356							calcium ion binding	p.R356R(2)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GCAACCGCAGCCGGCCTACGG	0.592000													120	294					0	0	0.014410	0	0
CNOT1	23019	broad.mit.edu	37	16	58580244	58580244	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:58580244G>C	ENST00000317147.5	-	29	4319	c.3987C>G	c.(3985-3987)ctC>ctG	p.L1329L	CNOT1_ENST00000441024.2_Silent_p.L1329L|CNOT1_ENST00000245138.4_Silent_p.L180L|CNOT1_ENST00000569240.1_Silent_p.L1324L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1329					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.L1329L(4)		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)		TGATGGGAGGGAGTTCTTCTG	0.413000													22	119					0	0	0.018920	0	0
POLD1	5424	broad.mit.edu	37	19	50905742	50905742	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:50905742A>G	ENST00000440232.2	+	7	843	c.790A>G	c.(790-792)Aac>Gac	p.N264D	POLD1_ENST00000599857.1_Missense_Mutation_p.N264D|POLD1_ENST00000595904.1_Missense_Mutation_p.N264D	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	264					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|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|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	p.N264D(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGTCGGCTGCAACTGGCTGGA	0.667000								DNA polymerases (catalytic subunits)					11	8					0	0	0.007413	0	0
FAM96A	84191	broad.mit.edu	37	15	64380925	64380925	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:64380925T>A	ENST00000557835.1	-	2	276	c.250A>T	c.(250-252)Acg>Tcg	p.T84S	FAM96A_ENST00000559950.1_Missense_Mutation_p.T84S|FAM96A_ENST00000300030.3_Missense_Mutation_p.T84S|FAM96A_ENST00000380290.3_Missense_Mutation_p.T84S			Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	84					chromosome segregation			p.T84S(2)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						ACTGTTGGCGTGAACCTGATA	0.348000													15	46					0	0	0.024245	0	0
JMJD4	65094	broad.mit.edu	37	1	227920196	227920196	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:227920196G>A	ENST00000366758.3	-	6	1288	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Missense_Mutation_p.A414V	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	430										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				GTCGGGGTGCGCAACCAAGGA	0.627000													5	156					0	0	0.014758	0	0
ABCA9	10350	broad.mit.edu	37	17	67031811	67031811	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:67031811C>T	ENST00000340001.4	-	7	1143	c.932G>A	c.(931-933)gGc>gAc	p.G311D	ABCA9_ENST00000453985.2_Missense_Mutation_p.G311D|ABCA9_ENST00000370732.2_Missense_Mutation_p.G311D	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	311					transport	integral to membrane	ATP binding|ATPase activity	p.G311D(2)		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)					CAAAGACAGGCCATAGAGGAG	0.383000													18	54					0	0	0.008871	0	0
MYO7B	4648	broad.mit.edu	37	2	128394197	128394197	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:128394197G>C	ENST00000389524.4	+	45	6179	c.6126G>C	c.(6124-6126)aaG>aaC	p.K2042N	MYO7B_ENST00000428314.1_Missense_Mutation_p.K2041N|MYO7B_ENST00000409090.1_Missense_Mutation_p.K894N|MYO7B_ENST00000409816.2_Missense_Mutation_p.K2041N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2041	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.K2285N(1)|p.K2041N(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCCACCCCAAGACCAAGGTAG	0.652000													5	24					0	0	0.014758	0	0
DDB1	1642	broad.mit.edu	37	11	61077340	61077340	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:61077340C>T	ENST00000301764.7	-	20	2891	c.2494G>A	c.(2494-2496)Ggc>Agc	p.G832S	DDB1_ENST00000450997.2_Missense_Mutation_p.G143S	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	832	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	p.G832S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATTGCTGTGCCCACAATGAAG	0.512000								Nucleotide excision repair (NER)					30	133					0	0	0.006320	0	0
ZNF658	26149	broad.mit.edu	37	9	40772612	40772612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:40772612C>A	ENST00000602553.1	-	5	2957	c.2663G>T	c.(2662-2664)gGg>gTg	p.G888V	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.G888V			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	888					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G888V(2)		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)		GAAAGTCTTCCCACAGTCATT	0.453000													71	106					1.84514e-49	2.62204e-49	0.014410	1	0
MATN2	4147	broad.mit.edu	37	8	99015950	99015950	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:99015950G>T	ENST00000254898.5	+	8	1497	c.1266G>T	c.(1264-1266)gaG>gaT	p.E422D	MATN2_ENST00000524308.1_Missense_Mutation_p.E381D|MATN2_ENST00000521689.1_Missense_Mutation_p.E422D|MATN2_ENST00000522025.2_Missense_Mutation_p.E138D|MATN2_ENST00000520016.1_Missense_Mutation_p.E422D	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	422	EGF-like 5.					proteinaceous extracellular matrix	calcium ion binding	p.E422D(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ACATGGAGGAGAGCTACTACT	0.577000													7	91					2.0095e-06	2.14573e-06	0.001984	1	0
ZNF569	148266	broad.mit.edu	37	19	37903769	37903769	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:37903769C>A	ENST00000316950.6	-	6	2348	c.1791G>T	c.(1789-1791)atG>atT	p.M597I	ZNF569_ENST00000392149.2_Missense_Mutation_p.M597I|ZNF569_ENST00000392150.2_Missense_Mutation_p.M438I	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M597I(2)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGGCCTCTCATGTGCACAA	0.403000													81	80					1.4533e-46	2.05364e-46	0.014410	1	0
DPM1	8813	broad.mit.edu	37	20	49558641	49558641	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:49558641C>T	ENST00000371582.4	-	6	452	c.421G>A	c.(421-423)Gat>Aat	p.D141N	RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371588.5_Missense_Mutation_p.D141N|DPM1_ENST00000371583.5_Intron|DPM1_ENST00000466152.1_5'UTR			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	141					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GAGACAATATCAAAATTACCC	0.353000													9	161					0	0	0.008291	0	0
ZPBP2	124626	broad.mit.edu	37	17	38031516	38031516	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:38031516C>T	ENST00000377940.3	+	6	791	c.652C>T	c.(652-654)Cga>Tga	p.R218*	ZPBP2_ENST00000584588.1_Nonsense_Mutation_p.R167*|ZPBP2_ENST00000348931.4_Nonsense_Mutation_p.R240*	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	240					binding of sperm to zona pellucida	extracellular region		p.R240*(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGCAAGAGATCGAATAGAAGA	0.358000													15	162					0	0	0.004990	0	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81442884	81442884	+	RNA	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:81442884A>T	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GGCCAGCCAGACTCCATCCCC	0.597000													4	7					0	0	0.009096	0	0
CSMD3	114788	broad.mit.edu	37	8	113275989	113275989	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:113275989T>A	ENST00000297405.5	-	61	9985	c.9741A>T	c.(9739-9741)acA>acT	p.T3247T	CSMD3_ENST00000455883.2_Silent_p.T3078T|CSMD3_ENST00000352409.3_Silent_p.T3177T|CSMD3_ENST00000343508.3_Silent_p.T3207T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3247	Sushi 25.					integral to membrane|plasma membrane		p.T3247T(1)|p.T3207T(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						AGTCGAAATTTGTTCCTTCCA	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	147					0	0	0.021553	0	0
HECW2	57520	broad.mit.edu	37	2	197298062	197298062	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:197298062T>A	ENST00000260983.2	-	2	268	c.86A>T	c.(85-87)cAg>cTg	p.Q29L		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	29					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.Q29L(2)		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						GGCAAGGCTCTGGAGGTTCTC	0.592000													46	145					0	0	0.014410	0	0
AGTR1	185	broad.mit.edu	37	3	148459426	148459426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:148459426C>A	ENST00000542281.1	+	4	1050	c.604C>A	c.(604-606)Ctg>Atg	p.L202M	AGTR1_ENST00000418473.2_Missense_Mutation_p.L202M|AGTR1_ENST00000402260.1_Missense_Mutation_p.L202M|AGTR1_ENST00000497524.1_Missense_Mutation_p.L202M|AGTR1_ENST00000475347.1_Missense_Mutation_p.L202M|AGTR1_ENST00000349243.3_Missense_Mutation_p.L202M|AGTR1_ENST00000404754.2_Missense_Mutation_p.L202M|AGTR1_ENST00000461609.1_Missense_Mutation_p.L202M|AGTR1_ENST00000474935.1_Missense_Mutation_p.L202M	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	202					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.L202M(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CAAAAATATACTGGGTTTCCT	0.373000													16	64					4.7546e-09	5.34098e-09	0.028581	1	0
GABRA3	2556	broad.mit.edu	37	X	151533027	151533027	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:151533027T>A	ENST00000370314.4	-	2	254	c.16A>T	c.(16-18)Aca>Tca	p.T6S	GABRA3_ENST00000370311.1_Missense_Mutation_p.T6S|GABRA3_ENST00000535043.1_Missense_Mutation_p.T6S	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	6					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	p.T6S(2)		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)	CAGTGACTTGTTTGTGTGATT	0.433000													34	107					0	0	0.019004	0	0
HERC4	26091	broad.mit.edu	37	10	69716678	69716678	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:69716678G>T	ENST00000395198.3	-	18	2253	c.2006C>A	c.(2005-2007)gCa>gAa	p.A669E	HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Missense_Mutation_p.A559E|HERC4_ENST00000412272.2_Missense_Mutation_p.A669E|HERC4_ENST00000373700.4_Missense_Mutation_p.A661E	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	669					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	p.A669E(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AGTAGTTTTTGCTTGGGCATC	0.318000													8	158					9.05144e-12	1.05437e-11	0.016723	1	0
PCDH9	5101	broad.mit.edu	37	13	67799482	67799482	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:67799482G>C	ENST00000377861.3	-	2	3777	c.3091C>G	c.(3091-3093)Cag>Gag	p.Q1031E	PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000456367.1_Intron|PCDH9_ENST00000377865.2_Intron|PCDH9_ENST00000544246.1_Intron			Q9HC56	PCDH9_HUMAN	protocadherin 9	0					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)		CGTTAATACTGGTTGACTGGG	0.428000													63	46					0	0	0.014410	0	0
RHBDD1	84236	broad.mit.edu	37	2	227731981	227731981	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:227731981G>A	ENST00000392062.2	+	5	1037	c.513G>A	c.(511-513)ccG>ccA	p.P171P	RHBDD1_ENST00000341329.3_Silent_p.P171P	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	171						integral to membrane	serine-type endopeptidase activity	p.P171P(3)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTCCTGTACCGAACAGATTTG	0.398000													54	261					0	0	0.014410	0	0
NSF	4905	broad.mit.edu	37	17	44782158	44782158	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:44782158G>A	ENST00000398238.4	+	13	1515	c.1408G>A	c.(1408-1410)Gca>Aca	p.A470T	NSF_ENST00000575068.1_Missense_Mutation_p.A465T|NSF_ENST00000225282.8_Missense_Mutation_p.A376T	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	470					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	p.A470T(2)		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)		CATGGAGAAAGCAGAAAGCCT	0.378000													17	138					0	0	0.010504	0	0
C2CD3	26005	broad.mit.edu	37	11	73825446	73825446	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:73825446C>T	ENST00000334126.7	-	10	1939	c.1713G>A	c.(1711-1713)gtG>gtA	p.V571V	C2CD3_ENST00000313663.7_Silent_p.V571V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	571						centrosome		p.V571V(4)		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)					TTGCTGTAGTCACCTTAGGTG	0.408000													6	54					0	0	0.001984	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090281	238090281	+	RNA	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:238090281G>T	ENST00000450451.1	+	0	1787					NR_027247.2																						GGGCCAGAAGGACTCCTACGT	0.602000													15	31					1.49906e-05	1.57401e-05	0.020292	1	0
SSTR4	6754	broad.mit.edu	37	20	23016252	23016252	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:23016252G>T	ENST00000255008.3	+	1	196	c.132G>T	c.(130-132)gcG>gcT	p.A44A	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	44					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.A44A(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					acgcgcgggcggcgggcATGG	0.711000													19	32					6.94344e-10	7.86993e-10	0.006122	1	0
CDC25A	993	broad.mit.edu	37	3	48207217	48207217	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:48207217G>C	ENST00000302506.3	-	12	1508	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	CDC25A_ENST00000459900.1_5'UTR|CDC25A_ENST00000351231.3_Missense_Mutation_p.S327C	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	367					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	p.S367C(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ATTCAAAACAGATGCCATCTG	0.423000													31	119					0	0	0.007291	0	0
HIST1H2AJ	8331	broad.mit.edu	37	6	27782453	27782453	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:27782453G>T	ENST00000333151.3	-	1	154	c.66C>A	c.(64-66)gcC>gcA	p.A22A		NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	22					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A22A(3)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						ACTGAAGCCCGGCCCGAGAAG	0.622000													40	56					2.76378e-25	3.65923e-25	0.014410	1	0
PZP	5858	broad.mit.edu	37	12	9344799	9344799	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:9344799C>A	ENST00000261336.2	-	13	1564	c.1536G>T	c.(1534-1536)gaG>gaT	p.E512D	PZP_ENST00000381997.2_Missense_Mutation_p.E381D	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.E512D(2)|p.E381D(2)		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						TGTCTCCTGACTCCACAGGCA	0.463000													17	34					1.67942e-08	1.86164e-08	0.006122	1	0
COL11A1	1301	broad.mit.edu	37	1	103461446	103461446	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:103461446C>A	ENST00000358392.2	-	28	2667	c.2350G>T	c.(2350-2352)Ggt>Tgt	p.G784C	COL11A1_ENST00000353414.4_Missense_Mutation_p.G733C|COL11A1_ENST00000370096.3_Missense_Mutation_p.G772C|COL11A1_ENST00000512756.1_Missense_Mutation_p.G656C	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	772	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCTTGAGACCTCTGACACCA	0.279000													4	192					1.23904e-05	1.3028e-05	0.014758	1	0
C4orf21	55345	broad.mit.edu	37	4	113461166	113461166	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:113461166C>T	ENST00000505019.1	-	27	6150	c.6025G>A	c.(6025-6027)Gta>Ata	p.V2009I	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0								p.V2009I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTGTCCTTACACAGGACAGA	0.403000													5	32					0	0	0.014758	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396791	38396791	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:38396791G>T	ENST00000377698.3	+	2	1199	c.1046G>T	c.(1045-1047)gGg>gTg	p.G349V		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	349					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.G349V(2)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	AGGAAAGTGGGGAACCCCTTT	0.572000													59	34					1.93748e-29	2.60629e-29	0.014410	1	0
HIP1	3092	broad.mit.edu	37	7	75171247	75171247	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:75171247C>A	ENST00000336926.6	-	29	2969	c.2943G>T	c.(2941-2943)atG>atT	p.M981I	HIP1_ENST00000434438.2_Missense_Mutation_p.M930I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	981	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.M983I(2)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCTGAGAATCCATCTCTTGGC	0.453000			T	PDGFRB	CMML								37	151					2.40579e-17	2.99141e-17	0.025465	1	0
PTCHD2	57540	broad.mit.edu	37	1	11596438	11596438	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:11596438G>T	ENST00000294484.6	+	21	4012	c.3874G>T	c.(3874-3876)Gcc>Tcc	p.A1292S	PTCHD2_ENST00000304391.6_Missense_Mutation_p.G178V|PTCHD2_ENST00000389575.3_Missense_Mutation_p.A1292S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1292					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.A1509S(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTGGGCGTGGCCATCGTCTC	0.657000													39	69					2.05212e-20	2.63396e-20	0.023175	1	0
OR5A2	219981	broad.mit.edu	37	11	59190132	59190132	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:59190132C>G	ENST00000302040.4	-	1	317	c.295G>C	c.(295-297)Gcc>Ccc	p.A99P		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A99P(2)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TACTGAGTGGCACAGCCAACA	0.512000													43	75					0	0	0.010771	0	0
KHDC3L	154288	broad.mit.edu	37	6	74072525	74072525	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:74072525G>A	ENST00000370367.3	+	1	126	c.73G>A	c.(73-75)Ggt>Agt	p.G25S		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member									p.G25S(2)|p.G25R(1)									GGAGGTGCTCGGTCACCTCCC	0.577000													22	77					0	0	0.010504	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294756	110294756	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:110294756T>C	ENST00000369805.3	-	15	1527	c.1298A>G	c.(1297-1299)cAt>cGt	p.H433R	EPS8L3_ENST00000361852.4_Intron|EPS8L3_ENST00000361965.4_Missense_Mutation_p.H432R|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	432						cytoplasm	protein binding	p.H433R(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTGAGGGTCATGGTTGTGTGT	0.562000													123	302					0	0	0.014410	0	0
DRC1	92749	broad.mit.edu	37	2	26676417	26676417	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:26676417G>T	ENST00000288710.2	+	14	1993	c.1919_splice	c.e14+1	p.R640_splice		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)									p.R640M(2)									AAGAAGCCTAGGTGGGCTGCG	0.612000													13	67					1.3612e-06	1.46591e-06	0.024245	1	0
FAM47C	442444	broad.mit.edu	37	X	37028810	37028810	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:37028810C>A	ENST00000358047.3	+	1	2379	c.2327C>A	c.(2326-2328)cCa>cAa	p.P776Q		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	776								p.P776Q(4)		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						CATCTCCACCCAGAGCTTCCC	0.632000													12	21					3.27435e-08	3.61374e-08	0.020292	1	0
DLGAP1	9229	broad.mit.edu	37	18	3845280	3845280	+	Translation_Start_Site	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:3845280C>T	ENST00000400147.2	-	1	79	c.3G>A	c.(1-3)atG>atA	p.M1I	DLGAP1_ENST00000534970.1_Intron|DLGAP1_ENST00000478161.1_Intron|DLGAP1_ENST00000515196.2_Intron|DLGAP1_ENST00000400150.3_Intron|DLGAP1_ENST00000400145.2_Start_Codon_SNP_p.M1I|DLGAP1_ENST00000584874.1_Intron|DLGAP1_ENST00000581699.1_Intron|DLGAP1_ENST00000400155.1_Intron|DLGAP1_ENST00000581527.1_Intron|DLGAP1_ENST00000539435.1_Start_Codon_SNP_p.M1I|DLGAP1_ENST00000315677.3_Intron|DLGAP1_ENST00000400149.3_Intron	NM_001003809.2	NP_001003809.1	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	0					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.M1I(2)		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)				AAATTAAGTTCATTATTCATC	0.368000													11	72					0	0	0.010729	0	0
CSMD1	64478	broad.mit.edu	37	8	2855548	2855548	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:2855548G>T	ENST00000602557.1	-	55	8920	c.8365C>A	c.(8365-8367)Ctg>Atg	p.L2789M	CSMD1_ENST00000542608.1_Missense_Mutation_p.L2730M|CSMD1_ENST00000537824.1_Missense_Mutation_p.L2788M|CSMD1_ENST00000602723.1_Missense_Mutation_p.L2731M|CSMD1_ENST00000400186.3_Missense_Mutation_p.L2731M|CSMD1_ENST00000520002.1_Missense_Mutation_p.L2789M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2789	Sushi 19.					integral to membrane		p.L2788M(2)|p.L2517M(2)		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)		CACGTGGGCAGAGGGCTACTC	0.557000													12	43					5.50884e-06	5.83289e-06	0.013537	1	0
NPBWR1	2831	broad.mit.edu	37	8	53853265	53853265	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:53853265C>A	ENST00000331251.3	+	1	2275	c.798C>A	c.(796-798)ccC>ccA	p.P266P		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	266					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCTGGACGCCCTACCACCTGA	0.657000													4	60					0.00909568	0.0092798	0.009096	1	0
RFTN2	130132	broad.mit.edu	37	2	198482528	198482528	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:198482528A>G	ENST00000295049.3	-	6	1582	c.1046T>C	c.(1045-1047)aTt>aCt	p.I349T		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	349						plasma membrane		p.I349T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GCTCACCTCAATAACAGTCCA	0.313000													21	81					0	0	0.014323	0	0
OR2G2	81470	broad.mit.edu	37	1	247751695	247751695	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:247751695C>G	ENST00000320065.1	+	1	34	c.34C>G	c.(34-36)Cta>Gta	p.L12V	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L12V(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			TGAGAGCAACCTAGCAGGTTT	0.393000													106	132					0	0	0.014410	0	0
SMAP1	60682	broad.mit.edu	37	6	71562317	71562317	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:71562317G>T	ENST00000370455.3	+	8	987	c.739G>T	c.(739-741)Gga>Tga	p.G247*	SMAP1_ENST00000316999.5_Nonsense_Mutation_p.G220*|SMAP1_ENST00000370452.3_Nonsense_Mutation_p.G220*	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	247					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.G247L(1)|p.G220L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GGACATCTTTGGACCGATGAT	0.458000													10	281					1.58986e-06	1.7073e-06	0.008291	1	0
CPSF1	29894	broad.mit.edu	37	8	145623236	145623236	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:145623236A>G	ENST00000349769.3	-	20	2100	c.2006T>C	c.(2005-2007)cTg>cCg	p.L669P		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	669					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	mRNA 3'-UTR binding|protein binding	p.L669P(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACTCTTCAGCAGGAACATGGT	0.677000													18	93					0	0	0.018920	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349570	30349570	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:30349570A>G	ENST00000327564.7	+	1	1547	c.1486A>G	c.(1486-1488)Aag>Gag	p.K496E	LRRC37B_ENST00000341671.7_Missense_Mutation_p.K469E|LRRC37B_ENST00000394713.3_Missense_Mutation_p.K469E|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000543378.2_Missense_Mutation_p.K387E|LRRC37B_ENST00000584368.1_Missense_Mutation_p.K481E			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	469						integral to membrane		p.K469E(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGCCCTGGAGAAGACTAGAGC	0.527000													55	114					0	0	0.014410	0	0
DACH2	117154	broad.mit.edu	37	X	85403695	85403695	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:85403695G>T	ENST00000373131.1	+	1	234	c.71G>T	c.(70-72)cGg>cTg	p.R24L	DACH2_ENST00000373125.4_Missense_Mutation_p.R24L	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.R24L(4)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGCTTATTCCGGGCCGAACCC	0.582000													8	7					0.000157383	0.000163661	0.003080	1	0
MACF1	23499	broad.mit.edu	37	1	39788376	39788376	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:39788376A>G	ENST00000564288.1	+	32	4903	c.4126A>G	c.(4126-4128)Atc>Gtc	p.I1376V	MACF1_ENST00000567887.1_Missense_Mutation_p.I1413V|MACF1_ENST00000317713.7_Missense_Mutation_p.I1381V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.I1381V|MACF1_ENST00000361689.2_Missense_Mutation_p.I1381V|MACF1_ENST00000539005.1_Missense_Mutation_p.I1381V|MACF1_ENST00000545844.1_Missense_Mutation_p.I1381V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1381					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	p.I1381V(3)		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)			TTCAGATGCCATCACTCAAGA	0.488000													33	91					0	0	0.010818	0	0
DLX3	1747	broad.mit.edu	37	17	48072147	48072147	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:48072147A>T	ENST00000434704.2	-	1	441	c.216T>A	c.(214-216)aaT>aaA	p.N72K		NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	72						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N72K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTGCAAGCCCATTGAGATTGA	0.612000													49	106					0	0	0.014410	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014042	75014042	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:75014042A>T	ENST00000379727.3	-	3	1040	c.842T>A	c.(841-843)aTc>aAc	p.I281N	CYP1A1_ENST00000567032.1_Missense_Mutation_p.I281N|CYP1A1_ENST00000564596.1_Missense_Mutation_p.I20N|CYP1A1_ENST00000395048.2_Missense_Mutation_p.I281N|CYP1A1_ENST00000395049.4_Missense_Mutation_p.I281N			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	281					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.I281N(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GCTGTCTGTGATGTCCCGGAT	0.512000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				25	118					0	0	0.024334	0	0
NUDT5	11164	broad.mit.edu	37	10	12209745	12209745	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:12209745G>T	ENST00000491614.1	-	10	1011	c.616C>A	c.(616-618)Cat>Aat	p.H206N	SEC61A2_ENST00000495368.1_Intron|SEC61A2_ENST00000304267.8_Intron|NUDT5_ENST00000378937.3_Missense_Mutation_p.H219N|NUDT5_ENST00000537776.1_Missense_Mutation_p.H206N|NUDT5_ENST00000378952.3_5'UTR			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	206					D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding	p.H206N(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GCATTTGCATGTTTCAGTGCT	0.443000													103	109					2.25818e-43	3.15561e-43	0.014410	1	0
CXCL9	4283	broad.mit.edu	37	4	76927399	76927399	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:76927399A>T	ENST00000264888.5	-	2	131	c.93T>A	c.(91-93)tgT>tgA	p.C31*		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	31					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	p.C31*(2)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGATGCAGGAACAGCGACCCT	0.428000													81	162					0	0	0.014410	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79067005	79067005	+	Missense_Mutation	SNP	T	T	C	rs151217691		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:79067005T>C	ENST00000388820.4	-	12	2047	c.1837A>G	c.(1837-1839)Aag>Gag	p.K613E	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	613	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K613E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCTGGCCCTTGTAGAGCATA	0.642000													11	82					0	0	0.008291	0	0
CD300C	10871	broad.mit.edu	37	17	72540857	72540857	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:72540857C>T	ENST00000330793.1	-	2	651	c.291G>A	c.(289-291)ctG>ctA	p.L97L		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	97	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.L97L(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TGAGATTCTCCAGGGTCACTG	0.552000													45	111					0	0	0.009718	0	0
ATF6B	1388	broad.mit.edu	37	6	32087669	32087669	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:32087669G>A	ENST00000375201.4	-	9	934	c.889C>T	c.(889-891)Cca>Tca	p.P297S	ATF6B_ENST00000375203.3_Missense_Mutation_p.P300S			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	300					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P300S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCAGGCCGTGGTAGAGAGGGA	0.607000													45	88					0	0	0.014410	0	0
PEX11A	8800	broad.mit.edu	37	15	90226986	90226986	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:90226986C>G	ENST00000300056.3	-	3	515	c.366G>C	c.(364-366)agG>agC	p.R122S	PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000561257.1_Missense_Mutation_p.R91S|PEX11A_ENST00000557982.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	122					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		p.R122S(2)		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)			GGTGAGCAGCCCTCGTTCGCC	0.493000													21	177					0	0	0.008871	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512673	68512673	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:68512673C>A	ENST00000370981.1	-	4	944	c.308G>T	c.(307-309)cGc>cTc	p.R103L	DIRAS3_ENST00000395201.1_Missense_Mutation_p.R103L|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	103					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.R103L(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATAACGTGGCGCTGCAGAGC	0.577000													58	308					1.13205e-32	1.55322e-32	0.014410	1	0
CWF19L2	143884	broad.mit.edu	37	11	107207336	107207336	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:107207336T>G	ENST00000282251.5	-	15	2333	c.2306A>C	c.(2305-2307)gAa>gCa	p.E769A		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	769							catalytic activity	p.E615A(2)|p.E769A(2)		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)		AGGAATACATTCATAAACCAT	0.333000													27	70					0	0	0.009535	0	0
P2RY10	27334	broad.mit.edu	37	X	78216847	78216847	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:78216847G>C	ENST00000171757.2	+	4	1110	c.830G>C	c.(829-831)tGt>tCt	p.C277S	P2RY10_ENST00000544091.1_Missense_Mutation_p.C277S	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	277						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.C277S(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						ATTAGCAGTTGTCCCGTTGTC	0.413000													72	62					0	0	0.014410	0	0
DENND2A	27147	broad.mit.edu	37	7	140301227	140301227	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:140301227C>G	ENST00000275884.6	-	2	1388	c.971G>C	c.(970-972)aGa>aCa	p.R324T	DENND2A_ENST00000492720.1_Missense_Mutation_p.R324T|DENND2A_ENST00000537639.1_Missense_Mutation_p.R324T|DENND2A_ENST00000496613.1_Missense_Mutation_p.R324T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	324								p.R324T(2)		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)					GGATTTCTGTCTCCCGGTCCA	0.572000													17	163					0	0	0.006122	0	0
PIK3CB	5291	broad.mit.edu	37	3	138375084	138375084	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:138375084A>G	ENST00000477593.1	-	22	3048	c.2975T>C	c.(2974-2976)aTt>aCt	p.I992T	PIK3CB_ENST00000544716.1_Missense_Mutation_p.I443T|PIK3CB_ENST00000289153.2_Missense_Mutation_p.I992T			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	992	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.I992T(2)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCGTCGTAAAATCAGATATGC	0.458000													12	41					0	0	0.016723	0	0
ATG7	10533	broad.mit.edu	37	3	11382132	11382132	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:11382132A>G	ENST00000354449.3	+	10	928	c.903A>G	c.(901-903)gcA>gcG	p.A301A	ATG7_ENST00000354956.5_Silent_p.A301A|ATG7_ENST00000446450.2_Silent_p.A262A	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	301					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	p.A301A(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GTCCTAAAGCAGTTGGATGGG	0.393000													14	64					0	0	0.020292	0	0
ARMC3	219681	broad.mit.edu	37	10	23270366	23270366	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:23270366A>T	ENST00000298032.5	+	9	1098	c.1014A>T	c.(1012-1014)caA>caT	p.Q338H	ARMC3_ENST00000409983.3_Missense_Mutation_p.Q338H|ARMC3_ENST00000409049.3_Missense_Mutation_p.Q338H|ARMC3_ENST00000376528.4_Missense_Mutation_p.Q75H	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	338							binding	p.Q338H(1)		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						CTGCTTCCCAAGCTATTTCAG	0.363000													4	70					0	0	0.009096	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386491	41386491	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:41386491C>A	ENST00000301146.4	-	3	927	c.386G>T	c.(385-387)cGc>cTc	p.R129L	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.R78L	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	129						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R129L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GATGGCAAAGCGCAGGAGCTG	0.697000													14	38					6.31663e-08	6.93087e-08	0.024245	1	0
NCKAP5	344148	broad.mit.edu	37	2	133489461	133489461	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:133489461C>A	ENST00000409261.1	-	17	5665	c.5292G>T	c.(5290-5292)atG>atT	p.M1764I	NCKAP5_ENST00000317721.6_Missense_Mutation_p.M1764I|NCKAP5_ENST00000409213.1_Missense_Mutation_p.M445I|NCKAP5_ENST00000405974.3_Missense_Mutation_p.M445I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1764							protein binding	p.M1764I(2)|p.M284I(2)		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						TTTGGGCTCTCATGGAAGAAA	0.582000													20	91					4.26978e-12	4.99683e-12	0.018920	1	0
FRMPD2	143162	broad.mit.edu	37	10	49371699	49371699	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:49371699C>T	ENST00000374201.3	-	28	3855	c.3553G>A	c.(3553-3555)Gct>Act	p.A1185T	FRMPD2_ENST00000407470.4_Missense_Mutation_p.A1153T|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A1160T|FRMPD2_ENST00000474573.1_Missense_Mutation_p.A137T|FRMPD2_ENST00000463706.1_5'UTR	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1185					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.A1185T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTTTGTCAGCTGAGAGTTCA	0.458000													11	193					0	0	0.006122	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923368	159923368	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:159923368G>T	ENST00000368093.3	-	2	238	c.122C>A	c.(121-123)cCc>cAc	p.P41H	SLAMF9_ENST00000368092.3_Missense_Mutation_p.P41H	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	41						integral to membrane		p.P41H(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TATTTCCAGGGGGAGGCTGAT	0.527000													69	131					2.18329e-32	2.98475e-32	0.014410	1	0
TAGLN2	8407	broad.mit.edu	37	1	159890305	159890305	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:159890305T>A	ENST00000368096.1	-	2	304	c.58A>T	c.(58-60)Att>Ttt	p.I20F	TAGLN2_ENST00000320307.4_5'UTR|TAGLN2_ENST00000368097.4_5'UTR|TAGLN2_ENST00000478033.1_5'UTR	NM_001277224.1	NP_001264153.1	P37802	TAGL2_HUMAN	transgelin 2	0					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCATTCCAATGGGTGGCGGT	0.572000													20	58					0	0	0.008871	0	0
MFSD8	256471	broad.mit.edu	37	4	128842683	128842683	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:128842683G>A	ENST00000296468.3	-	12	1473	c.1346C>T	c.(1345-1347)cCt>cTt	p.P449L	MFSD8_ENST00000513559.1_Missense_Mutation_p.P404L|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	449					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.P449L(2)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GCTTACCTGAGGTTTTGGTCC	0.378000													34	62					0	0	0.015359	0	0
CEP55	55165	broad.mit.edu	37	10	95263113	95263113	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:95263113G>C	ENST00000371485.3	+	3	731	c.427G>C	c.(427-429)Gaa>Caa	p.E143Q		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	143					cell division|mitosis	centriole|cleavage furrow|midbody		p.E143Q(2)		kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				TGCTGAACTTGAAAGCAAAAC	0.383000													23	104					0	0	0.016522	0	0
MADD	8567	broad.mit.edu	37	11	47314115	47314115	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:47314115A>C	ENST00000311027.5	+	21	3548	c.3383A>C	c.(3382-3384)gAa>gCa	p.E1128A	MADD_ENST00000402799.1_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000395344.3_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000395336.3_Missense_Mutation_p.E1128A|MADD_ENST00000407859.3_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000405573.2_5'UTR	NM_003682.3	NP_003673.3	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1128					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	p.E1128A(2)		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)		AAGCACCAGGAAGTGAAAAAG	0.493000													16	102					0	0	0.006122	0	0
HSPA9	3313	broad.mit.edu	37	5	137909529	137909529	+	Missense_Mutation	SNP	T	T	C	rs138260125		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:137909529T>C	ENST00000297185.3	-	3	276	c.151A>G	c.(151-153)Atc>Gtc	p.I51V		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	51					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	p.I51V(2)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTCCCTTGATTGCTTCTGAT	0.373000													28	23					0	0	0.010818	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107035616	107035616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:107035616G>A	ENST00000369063.3	-	7	1393	c.928C>T	c.(928-930)Cga>Tga	p.R310*	RTN4IP1_ENST00000539449.1_Intron	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	310						mitochondrion	oxidoreductase activity|zinc ion binding	p.R310*(2)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		ATGCCCAATCGGTCCATGTTC	0.502000													39	75					0	0	0.023175	0	0
NFYC	4802	broad.mit.edu	37	1	41236480	41236480	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:41236480C>T	ENST00000372652.1	+	10	1568	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	NFYC_ENST00000425457.2_Missense_Mutation_p.P349S|NFYC_ENST00000427410.2_Missense_Mutation_p.P292S|NFYC_ENST00000372653.1_Missense_Mutation_p.P296S|NFYC_ENST00000456393.2_Missense_Mutation_p.P329S|NFYC_ENST00000308733.5_Missense_Mutation_p.P453S|NFYC_ENST00000372654.1_Missense_Mutation_p.P330S|NFYC_ENST00000372651.1_Missense_Mutation_p.P330S|NFYC_ENST00000447388.3_Missense_Mutation_p.P330S|NFYC_ENST00000440226.3_Missense_Mutation_p.P330S			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	453					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	p.P330S(1)		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)			CGGGCAGGCCCCCCAGGTGAC	0.642000													20	111					0	0	0.010504	0	0
TENM1	10178	broad.mit.edu	37	X	123631060	123631060	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:123631060G>C	ENST00000422452.2	-	20	3564	c.3501C>G	c.(3499-3501)gtC>gtG	p.V1167V	TENM1_ENST00000371130.3_Silent_p.V1167V	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.V1169V(2)									TGGTTGATATGACTGGGGGCT	0.423000													39	14					0	0	0.023175	0	0
UNC13C	440279	broad.mit.edu	37	15	54307661	54307661	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:54307661C>A	ENST00000545554.1	+	1	2561	c.2561C>A	c.(2560-2562)aCg>aAg	p.T854K	UNC13C_ENST00000537900.1_Missense_Mutation_p.T854K|UNC13C_ENST00000260323.11_Missense_Mutation_p.T854K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	854					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.T854K(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GATGTCTACACGGAGCCCTAT	0.423000													28	55					2.4375e-19	3.09186e-19	0.007291	1	0
SIM1	6492	broad.mit.edu	37	6	100838954	100838954	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:100838954C>A	ENST00000369208.3	-	12	2366	c.1584G>T	c.(1582-1584)tgG>tgT	p.W528C	SIM1_ENST00000262901.4_Missense_Mutation_p.W528C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	528	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.W528C(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TATCTTCATCCCAATGACCTC	0.403000													20	94					1.10513e-12	1.30748e-12	0.014323	1	0
TSHZ2	128553	broad.mit.edu	37	20	51871901	51871901	+	Missense_Mutation	SNP	G	G	A	rs139065096	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	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													9	156					0	0	0.004482	0	0
SYP	6855	broad.mit.edu	37	X	49050789	49050789	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:49050789G>C	ENST00000263233.4	-	4	329	c.257C>G	c.(256-258)aCc>aGc	p.T86S	SYP_ENST00000479808.1_Missense_Mutation_p.T86S|SYP_ENST00000538567.1_5'UTR	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	86	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				CCCTCGGCAGGTGGGTGCATC	0.582000													12	622					0	0	0.016723	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47274578	47274578	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:47274578A>G	ENST00000337137.4	+	5	833	c.667A>G	c.(667-669)Atc>Gtc	p.I223V	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.I176V|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.I145V|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.I176V|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.I164V	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	223	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CTGGTCCGGAATCCCTAAGCC	0.522000													4	191					0	0	0.014758	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593003	96593003	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:96593003T>C	ENST00000456556.1	-	28	1982	c.1898A>G	c.(1897-1899)aAt>aGt	p.N633S						ankyrin repeat domain 36C									p.N633S(2)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TGTGGCTATATTTGAAACAGA	0.328000													30	70					0	0	0.008361	0	0
CLEC7A	64581	broad.mit.edu	37	12	10280406	10280406	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:10280406C>T	ENST00000353231.5	-	2	300	c.142G>A	c.(142-144)Gta>Ata	p.V48I	CLEC7A_ENST00000525605.1_Missense_Mutation_p.V48I|CLEC7A_ENST00000396484.2_Intron|CLEC7A_ENST00000310002.4_Missense_Mutation_p.V48I|CLEC7A_ENST00000304084.8_Missense_Mutation_p.V48I|CLEC7A_ENST00000298523.5_Missense_Mutation_p.V48I|CLEC7A_ENST00000533022.1_Missense_Mutation_p.V48I	NM_022570.4	NP_072092.2	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	48					carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding	p.V48I(3)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CCCAAAATTACAGCAATGAGG	0.483000													4	4					0	0	0.009096	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607513	84607513	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:84607513C>T	ENST00000344803.2	+	4	2175	c.2128C>T	c.(2128-2130)Ctg>Ttg	p.L710L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.L710L(4)									CCATGAGTCTCTGTCATTGCT	0.483000													37	47					0	0	0.017118	0	0
CSMD3	114788	broad.mit.edu	37	8	113275890	113275890	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:113275890A>T	ENST00000297405.5	-	61	10084	c.9840T>A	c.(9838-9840)agT>agA	p.S3280R	CSMD3_ENST00000455883.2_Missense_Mutation_p.S3111R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3210R|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3240R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3280	Sushi 25.					integral to membrane|plasma membrane		p.S3240R(2)|p.S3280R(2)		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						GTACTTCACCACTCCAGGTAC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			35	67					0	0	0.017118	0	0
GH1	2688	broad.mit.edu	37	17	61995377	61995377	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:61995377G>T	ENST00000323322.5	-	3	333	c.291_splice	c.e3+1	p.S97_splice	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000458650.2_Splice_Site_p.S82_splice|GH1_ENST00000351388.4_Intron|GH1_ENST00000342364.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	97			S -> F (in IGHD1B; reduced ability to activate the JAK/STAT pathway).		glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	p.S97S(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						ATCCACTCACGGATTTCTGTT	0.572000													106	130					8.08851e-39	1.12406e-38	0.014410	1	0
C20orf194	25943	broad.mit.edu	37	20	3340199	3340199	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:3340199C>T	ENST00000252032.9	-	7	721	c.654G>A	c.(652-654)aaG>aaA	p.K218K		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	218								p.K218K(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TAGGATCCATCTTGCTGTAGA	0.373000													6	79					0	0	0.021553	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970637	45970637	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr21:45970637G>C	ENST00000391621.1	-	1	751	c.705C>G	c.(703-705)tgC>tgG	p.C235W	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	235						keratin filament		p.C235W(2)		large_intestine(1)|lung(4)|skin(1)	6						ACACGGGGCGGCAGAGGAGGG	0.672000													59	69					0	0	0.014410	0	0
ZEB1	6935	broad.mit.edu	37	10	31810791	31810791	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:31810791A>G	ENST00000446923.2	+	7	2871	c.2480A>G	c.(2479-2481)tAc>tGc	p.Y827C	ZEB1_ENST00000320985.10_Missense_Mutation_p.Y843C|ZEB1_ENST00000542815.3_Missense_Mutation_p.Y776C|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.Y823C|ZEB1_ENST00000361642.5_Missense_Mutation_p.Y844C	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	843					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	p.Y843C(2)		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)				CAGGTGGCATACACCTACTCA	0.483000													57	47					0	0	0.014410	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110504206	110504206	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:110504206T>A	ENST00000378402.5	+	62	10323	c.10219T>A	c.(10219-10221)Tgg>Agg	p.W3407R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3407					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.W3409R(2)		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)			TTCAACTCTCTGGCATGCAGC	0.338000										HNSCC(38;0.096)			6	21					0	0	0.021553	0	0
LNX1	84708	broad.mit.edu	37	4	54327087	54327087	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:54327087C>T	ENST00000306888.2	-	10	2137	c.1886G>A	c.(1885-1887)gGc>gAc	p.G629D	LNX1_ENST00000263925.7_Missense_Mutation_p.G725D|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	725						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TAAAAAAGTGCCAGGCCAAGA	0.338000													4	144					0	0	0.009096	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318672	21318672	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:21318672G>T	ENST00000583088.1	+	3	913	c.18G>T	c.(16-18)cgG>cgT	p.R6R	KCNJ12_ENST00000331718.5_Silent_p.R6R	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CGGCCAGCCGGGCCAACCCCT	0.697000										Prostate(3;0.18)			4	40					1.23904e-05	1.3028e-05	0.014758	1	0
WFDC11	259239	broad.mit.edu	37	20	44278014	44278014	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:44278014C>T	ENST00000356562.2	-	4	346	c.125G>A	c.(124-126)tGc>tAc	p.C42Y	WFDC11_ENST00000324384.3_Missense_Mutation_p.C42Y			Q8NEX6	WFD11_HUMAN	WAP four-disulfide core domain 11	42						extracellular region		p.C42Y(2)		endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				CTTTCCCCAGCATTCTTCAAG	0.393000													66	163					0	0	0.014410	0	0
ME2	4200	broad.mit.edu	37	18	48447064	48447064	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:48447064C>T	ENST00000321341.5	+	9	1150	c.878C>T	c.(877-879)gCa>gTa	p.A293V	ME2_ENST00000382927.3_Missense_Mutation_p.A293V	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	293					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	p.A293V(2)		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)	GGTCTTCTTGCAGCACAAAAA	0.348000													31	98					0	0	0.010818	0	0
CNTRL	11064	broad.mit.edu	37	9	123920102	123920102	+	Silent	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:123920102A>C	ENST00000373855.1	+	29	4841	c.4581A>C	c.(4579-4581)gcA>gcC	p.A1527A	CNTRL_ENST00000373850.1_Silent_p.A975A|CNTRL_ENST00000238341.5_Silent_p.A1527A|CNTRL_ENST00000373847.1_Silent_p.A975A|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1527					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.A1527A(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAATTGTAGCAGCAAAAGACT	0.408000													43	69					0	0	0.013114	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779094	97779094	+	Splice_Site	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:97779094T>C	ENST00000344386.3	+	7	821	c.657_splice	c.e7+1	p.N219_splice	CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Splice_Site_p.N219_splice	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	219								p.N219N(4)		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)		ATGATAGAAATGTAAGTATAT	0.358000													15	97					0	0	0.020292	0	0
TTLL2	83887	broad.mit.edu	37	6	167754837	167754837	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:167754837A>T	ENST00000239587.5	+	3	1537	c.1449A>T	c.(1447-1449)gcA>gcT	p.A483A		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	483					protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.A483A(2)		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)		CTGAAGCTGCACCTGCCTCCC	0.517000													29	110					0	0	0.009535	0	0
KIF21A	55605	broad.mit.edu	37	12	39701384	39701384	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:39701384C>G	ENST00000395670.3	-	33	4847	c.4428G>C	c.(4426-4428)agG>agC	p.R1476S	KIF21A_ENST00000544797.2_Missense_Mutation_p.R1438S|KIF21A_ENST00000361418.5_Missense_Mutation_p.R1475S|KIF21A_ENST00000541463.2_Missense_Mutation_p.R1422S|KIF21A_ENST00000361961.3_Missense_Mutation_p.R1462S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1475					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1462S(1)		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)				GATCCCACATCCTGACAGCAT	0.398000													10	122					0	0	0.006214	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925700	218925700	+	RNA	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:218925700A>T	ENST00000439871.1	-	0	680					NR_002712.1																						TGGCATGGACAATGGCCAGGT	0.537000													6	12					0	0	0.001984	0	0
TEX15	56154	broad.mit.edu	37	8	30703478	30703478	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:30703478G>C	ENST00000256246.2	-	1	3130	c.3056C>G	c.(3055-3057)aCt>aGt	p.T1019S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1019								p.T1019S(2)		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)		TCCTACTTTAGTTATAAGCTG	0.338000													60	282					0	0	0.014410	0	0
HIST1H2AH	85235	broad.mit.edu	37	6	27115128	27115128	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:27115128A>T	ENST00000377459.1	+	1	268	c.221A>T	c.(220-222)aAc>aTc	p.N74I		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	74					nucleosome assembly	nucleosome|nucleus	DNA binding	p.N74I(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GCCCGCGACAACAAGAAGACC	0.647000													32	92					0	0	0.012213	0	0
DKK2	27123	broad.mit.edu	37	4	107845748	107845748	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:107845748T>A	ENST00000285311.3	-	3	1188	c.483A>T	c.(481-483)ggA>ggT	p.G161G	DKK2_ENST00000513208.1_Silent_p.G61G|DKK2_ENST00000510463.1_Silent_p.G115G	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	161					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.G161G(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GATTCTGCCATCCCAAGTCAT	0.418000													45	147					0	0	0.013114	0	0
NF1	4763	broad.mit.edu	37	17	29657349	29657349	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:29657349G>A	ENST00000358273.4	+	39	6028	c.5645G>A	c.(5644-5646)tGt>tAt	p.C1882Y	NF1_ENST00000356175.3_Missense_Mutation_p.C1861Y|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1882					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.C1882Y(4)|p.?(3)|p.C1882F(1)	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)		GCCTTAACTTGTACCTTTAAT	0.353000			"""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)			49	78					0	0	0.014410	0	0
GP6	51206	broad.mit.edu	37	19	55543670	55543670	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:55543670C>G	ENST00000310373.3	-	3	189	c.162G>C	c.(160-162)gtG>gtC	p.V54V	GP6_ENST00000417454.1_Silent_p.V54V|GP6_ENST00000333884.2_Silent_p.V54V|CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	54	Ig-like C2-type 1.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	p.V54V(1)		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)		GGTACAGGTCCACGCCCGGAG	0.652000													52	44					0	0	0.014410	0	0
AQP9	366	broad.mit.edu	37	15	58458996	58458996	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:58458996C>T	ENST00000219919.4	+	2	606	c.236C>T	c.(235-237)tCt>tTt	p.S79F	AQP9_ENST00000536493.1_Missense_Mutation_p.S79F|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.S14F	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	79					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.S79F(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GGCGGTGTCTCTGGTAAGCAG	0.448000													18	193					0	0	0.006122	0	0
FOXR1	283150	broad.mit.edu	37	11	118851198	118851198	+	Splice_Site	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:118851198A>G	ENST00000317011.3	+	5	836		c.e5-1			NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1						embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific 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	p.?(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCCTGTCCATAGAAAGCACTT	0.537000													82	117					0	0	0.014410	0	0
MYH11	4629	broad.mit.edu	37	16	15917231	15917231	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:15917231T>C	ENST00000338282.6	-	3	489	c.383A>G	c.(382-384)tAt>tGt	p.Y128C	MYH11_ENST00000300036.5_Missense_Mutation_p.Y128C|MYH11_ENST00000576790.1_Missense_Mutation_p.Y128C|MYH11_ENST00000396324.3_Missense_Mutation_p.Y128C|MYH11_ENST00000452625.2_Missense_Mutation_p.Y128C	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	128	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	p.Y128C(4)		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						CAGGTGTTTATAGGGGTTGAC	0.557000			T	CBFB	AML								75	158					0	0	0.014410	0	0
DCDC1	341019	broad.mit.edu	37	11	31312214	31312214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:31312214C>A	ENST00000597505.1	-	5	939	c.940G>T	c.(940-942)Gga>Tga	p.G314*	DCDC1_ENST00000452803.1_Nonsense_Mutation_p.G314*			P59894	DCDC1_HUMAN	doublecortin domain containing 1	314					intracellular signal transduction			p.G314L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTTTCTTTTCCCACTGTAATC	0.328000													25	65					4.7796e-09	5.3611e-09	0.024334	1	0
LGALS2	3957	broad.mit.edu	37	22	37966600	37966600	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:37966600G>T	ENST00000215886.4	-	3	406	c.232C>A	c.(232-234)Cca>Aca	p.P78T		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	78	Galectin.							p.P78T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					TCTGACCCTGGGCTGAAGCAC	0.582000													103	236					8.87708e-63	1.27587e-62	0.014410	1	0
ASAH2	56624	broad.mit.edu	37	10	52005145	52005145	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:52005145C>A	ENST00000395526.3	-	2	196	c.197G>T	c.(196-198)cGc>cTc	p.R66L	ASAH2_ENST00000447815.1_Missense_Mutation_p.R66L|ASAH2_ENST00000329428.6_Missense_Mutation_p.R47L	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	66					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	p.R47L(2)|p.R66L(2)		large_intestine(1)|lung(9)|urinary_tract(1)	11						GGCTGTGGAGCGTTGGGCAGC	0.507000													35	66					1.61788e-16	1.99856e-16	0.012213	1	0
OR5K4	403278	broad.mit.edu	37	3	98073318	98073318	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:98073318A>G	ENST00000354924.2	+	1	621	c.621A>G	c.(619-621)caA>caG	p.Q207Q	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	207					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						TACCAATTCAAATCTTTACCA	0.338000													4	75					0	0	0.009096	0	0
ATG2B	55102	broad.mit.edu	37	14	96777950	96777950	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:96777950C>A	ENST00000359933.4	-	27	4812	c.3919G>T	c.(3919-3921)Gtt>Ttt	p.V1307F		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1307								p.V1307F(2)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATCACACGAACATAATCTAAA	0.313000													20	71					1.28384e-07	1.40461e-07	0.012319	1	0
MAGEC3	139081	broad.mit.edu	37	X	140984475	140984475	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:140984475G>T	ENST00000544766.1	+	5	564	c.37G>T	c.(37-39)Gag>Tag	p.E13*	MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000536088.1_Nonsense_Mutation_p.E13*|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000409007.1_Nonsense_Mutation_p.E13*	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0								p.E13*(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAGCTTTGAGGAAGACTT	0.542000													135	51					1.05585e-87	1.52916e-87	0.014410	1	0
IL21R	50615	broad.mit.edu	37	16	27456538	27456538	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:27456538C>G	ENST00000337929.3	+	7	1199	c.726C>G	c.(724-726)ctC>ctG	p.L242L	IL21R_ENST00000395755.1_Silent_p.L242L|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395754.4_Silent_p.L242L|IL21R_ENST00000564089.1_Silent_p.L242L	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	242					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.L242L(2)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TGCTTCTCCTCCTGCTTGTCA	0.542000			T	BCL6	NHL								28	69					0	0	0.007291	0	0
OR7A17	26333	broad.mit.edu	37	19	14991871	14991871	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:14991871G>C	ENST00000327462.2	-	1	393	c.297C>G	c.(295-297)acC>acG	p.T99T		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T99T(3)		breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AGCACATCTGGGTGATGCAGC	0.468000													45	50					0	0	0.014410	0	0
OR4A15	81328	broad.mit.edu	37	11	55136184	55136184	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:55136184C>A	ENST00000314706.3	+	1	825	c.825C>A	c.(823-825)gtC>gtA	p.V275V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V275V(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TCACTGTGGTCATTTTATTCT	0.408000													104	203					2.18974e-44	3.07704e-44	0.014410	1	0
OBSCN	84033	broad.mit.edu	37	1	228509331	228509331	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:228509331G>T	ENST00000570156.2	+	66	17734	c.17660G>T	c.(17659-17661)cGc>cTc	p.R5887L	OBSCN_ENST00000366707.4_Missense_Mutation_p.R2564L|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4930L|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2049L|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4930L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4930					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	p.R4930L(2)|p.R5512L(2)|p.R5642L(2)		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)				GTGCGAGCCCGCTGGCTGAAG	0.642000													29	37					3.65163e-15	4.44546e-15	0.006320	1	0
INSRR	3645	broad.mit.edu	37	1	156823768	156823768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:156823768G>T	ENST00000368195.3	-	2	809	c.413C>A	c.(412-414)gCt>gAt	p.A138D	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	138					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	p.A138D(2)		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)					CACACGCACAGCCCCACGCAG	0.632000													28	45					2.44723e-14	2.93668e-14	0.024334	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254960	30254960	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:30254960T>G	ENST00000361644.2	+	5	1656	c.919T>G	c.(919-921)Tat>Gat	p.Y307D	MAGEB3_ENST00000378986.1_Missense_Mutation_p.Y307D	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	307	MAGE.							p.Y307V(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CCAGTTCTGGTATGAAGAGGC	0.517000													19	23					0	0	0.008871	0	0
THEMIS	387357	broad.mit.edu	37	6	128134623	128134623	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:128134623T>A	ENST00000368250.1	-	5	1424	c.926A>T	c.(925-927)cAg>cTg	p.Q309L	THEMIS_ENST00000543064.1_Missense_Mutation_p.Q388L|THEMIS_ENST00000537166.1_Missense_Mutation_p.Q353L|THEMIS_ENST00000368248.2_Missense_Mutation_p.Q388L			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	388	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.Q388L(2)		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						CACCAGAAACTGGTCCCCAAC	0.468000													24	82					0	0	0.018920	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736176	140736176	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:140736176C>T	ENST00000571252.1	+	1	1409	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGCCTCCATCTTATCT	0.507000													40	113					0	0	0.027894	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564340	176564340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:176564340G>T	ENST00000367662.3	+	3	2764	c.1600G>T	c.(1600-1602)Gat>Tat	p.D534Y	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D534Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	534	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.D534Y(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAACATCTGTGATGATGAGGG	0.527000													54	79					9.52127e-25	1.25621e-24	0.014410	1	0
CLSTN2	64084	broad.mit.edu	37	3	140277665	140277665	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:140277665C>T	ENST00000458420.3	+	12	2197	c.2007C>T	c.(2005-2007)gcC>gcT	p.A669A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	669					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.A669A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCACCTTCGCCAAAACCGAAG	0.532000										HNSCC(16;0.037)			35	89					0	0	0.019004	0	0
EYS	346007	broad.mit.edu	37	6	66204948	66204948	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:66204948G>T	ENST00000503581.1	-	4	893	c.356C>A	c.(355-357)aCa>aAa	p.T119K	EYS_ENST00000393380.2_Missense_Mutation_p.T119K|EYS_ENST00000370616.2_Missense_Mutation_p.T119K|EYS_ENST00000370621.3_Missense_Mutation_p.T119K|EYS_ENST00000342421.5_Missense_Mutation_p.T119K|EYS_ENST00000370618.3_Missense_Mutation_p.T119K	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	119					response to stimulus|visual perception	extracellular region	calcium ion binding	p.T119K(2)		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						ATCTTCCGTTGTGGTATTTTG	0.358000													45	120					1.76056e-25	2.33916e-25	0.011902	1	0
TCF12	6938	broad.mit.edu	37	15	57525012	57525012	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:57525012G>A	ENST00000267811.5	+	11	1232	c.928G>A	c.(928-930)Gcc>Acc	p.A310T	TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000438423.2_Missense_Mutation_p.A310T|TCF12_ENST00000333725.5_Missense_Mutation_p.A310T|TCF12_ENST00000543579.1_Missense_Mutation_p.A140T|TCF12_ENST00000343827.3_Missense_Mutation_p.A140T|TCF12_ENST00000452095.2_Missense_Mutation_p.A306T|TCF12_ENST00000557843.1_Missense_Mutation_p.A310T|TCF12_ENST00000537840.1_Missense_Mutation_p.A74T	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	310					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.A310T(4)|p.A306T(2)|p.A140T(2)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTACGTTGCTGCCTCACACAC	0.473000			T	TEC	extraskeletal myxoid chondrosarcoma								35	62					0	0	0.021022	0	0
DSPP	1834	broad.mit.edu	37	4	88534203	88534203	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:88534203G>T	ENST00000399271.1	+	4	985	c.865G>T	c.(865-867)Gat>Tat	p.D289Y	DSPP_ENST00000282478.7_Missense_Mutation_p.D289Y|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	289					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.D289Y(2)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TGGGAAAGAAGATGATCATGA	0.428000													17	52					6.94344e-10	7.86993e-10	0.006122	1	0
C10orf120	399814	broad.mit.edu	37	10	124457832	124457832	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:124457832A>T	ENST00000329446.4	-	3	456	c.425T>A	c.(424-426)aTa>aAa	p.I142K		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	142								p.I142K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TGCTGTCCATATTTTTTCTAG	0.458000													10	173					0	0	0.006214	0	0
RYR3	6263	broad.mit.edu	37	15	33955875	33955875	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:33955875G>A	ENST00000389232.4	+	36	5626	c.5556G>A	c.(5554-5556)ctG>ctA	p.L1852L	RYR3_ENST00000415757.3_Silent_p.L1852L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1852	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L1852L(2)		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)		TGCAGGCCCTGAACATGTCTG	0.567000													5	35					0	0	0.021553	0	0
PXDNL	137902	broad.mit.edu	37	8	52359614	52359614	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:52359614C>T	ENST00000356297.4	-	12	1575	c.1475G>A	c.(1474-1476)aGt>aAt	p.S492N	PXDNL_ENST00000543296.1_Missense_Mutation_p.S492N	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	492	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.S492N(2)		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)				CCCCAACGAACTGACTGCTTG	0.468000													55	215					0	0	0.014410	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104251168	104251168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:104251168G>A	ENST00000202556.9	-	3	523	c.241C>T	c.(241-243)Cga>Tga	p.R81*		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	81					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	p.R81*(2)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCCTCGTGTCGAAGGAAAAAT	0.393000													23	82					0	0	0.014323	0	0
STK32C	282974	broad.mit.edu	37	10	134059451	134059451	+	Missense_Mutation	SNP	C	C	A	rs142282211		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:134059451C>A	ENST00000368625.4	-	2	395	c.310G>T	c.(310-312)Gac>Tac	p.D104Y	STK32C_ENST00000368622.1_5'UTR			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	91	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.D104Y(2)|p.D91Y(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TGGAAGTGGTCGAAGTTCACT	0.637000													22	60					2.98393e-07	3.2552e-07	0.016522	1	0
DEFB112	245915	broad.mit.edu	37	6	50011359	50011359	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:50011359C>T	ENST00000322246.4	-	2	270	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	91					defense response to bacterium	extracellular region		p.D91N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TTATTTGGGTCCGTAGGGTCA	0.413000													25	106					0	0	0.024334	0	0
SLC4A7	9497	broad.mit.edu	37	3	27490147	27490147	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:27490147G>C	ENST00000295736.5	-	3	327	c.257C>G	c.(256-258)tCt>tGt	p.S86C	SLC4A7_ENST00000428386.1_Missense_Mutation_p.S86C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S91C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S95C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S91C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S95C|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S95C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S91C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S95C|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S91C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	86						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.S86C(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CTTACCATAAGAAGGAGATTC	0.353000													17	116					0	0	0.004990	0	0
OR4C3	256144	broad.mit.edu	37	11	48346726	48346726	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:48346726C>T	ENST00000319856.4	+	1	255	c.234C>T	c.(232-234)ccC>ccT	p.P78P		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P78P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCTCCAGCCCCACGCTGGCTT	0.453000													13	197					0	0	0.013537	0	0
RABGAP1	23637	broad.mit.edu	37	9	125782613	125782613	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:125782613A>T	ENST00000373647.4	+	13	1803	c.1669A>T	c.(1669-1671)Aag>Tag	p.K557*		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	557					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	p.K485*(2)|p.K557*(2)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGTGAGACCGAAGCAGTTGTC	0.403000													48	55					0	0	0.014410	0	0
CAPN11	11131	broad.mit.edu	37	6	44140984	44140984	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:44140984G>A	ENST00000542245.1	+	7	730	c.692G>A	c.(691-693)gGg>gAg	p.G231E	CAPN11_ENST00000398776.1_Missense_Mutation_p.G231E			Q9UMQ6	CAN11_HUMAN	calpain 11	231	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.G231E(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	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)			GCATTGTCAGGGGGCAGTACC	0.607000											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	179					0	0	0.014410	0	0
UBR1	197131	broad.mit.edu	37	15	43258422	43258422	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:43258422G>A	ENST00000290650.4	-	41	4598	c.4520C>T	c.(4519-4521)cCt>cTt	p.P1507L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1507					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	p.P1507L(1)		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)		GCGAAGATAAGGGGTGATGCC	0.433000													6	94					0	0	0.021553	0	0
C16orf70	80262	broad.mit.edu	37	16	67178769	67178769	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:67178769C>T	ENST00000219139.3	+	12	1183	c.995C>T	c.(994-996)gCc>gTc	p.A332V	C16orf70_ENST00000569600.1_Missense_Mutation_p.A332V	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	332								p.A332V(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ATCCCACTAGCCATAAAGAAA	0.483000													105	155					0	0	0.014410	0	0
PIGT	51604	broad.mit.edu	37	20	44047576	44047576	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:44047576A>T	ENST00000535404.1	+	3	464	c.86A>T	c.(85-87)cAg>cTg	p.Q29L	PIGT_ENST00000372689.5_Silent_p.T150T|PIGT_ENST00000543458.2_Intron|PIGT_ENST00000279035.9_Intron|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000279036.6_Silent_p.T150T|PIGT_ENST00000341555.5_Intron			Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	0					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	p.T150T(4)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCACCAACACAGTCACTCCCA	0.512000													61	168					0	0	0.014410	0	0
SEMA3C	10512	broad.mit.edu	37	7	80387687	80387687	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:80387687C>T	ENST00000265361.3	-	15	2164	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N	SEMA3C_ENST00000419255.2_Missense_Mutation_p.D535N|SEMA3C_ENST00000544525.1_Missense_Mutation_p.D553N	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	535					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						GAATGGCCATCCCAGGCGCAA	0.532000													9	198					0	0	0.004482	0	0
INPP4A	3631	broad.mit.edu	37	2	99193584	99193584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:99193584C>T	ENST00000074304.5	+	25	3172	c.2779C>T	c.(2779-2781)Cag>Tag	p.Q927*	INPP4A_ENST00000409540.3_Nonsense_Mutation_p.Q888*|INPP4A_ENST00000409851.3_Nonsense_Mutation_p.Q922*|INPP4A_ENST00000545415.1_Nonsense_Mutation_p.Q888*|INPP4A_ENST00000523221.1_Nonsense_Mutation_p.Q927*|INPP4A_ENST00000409463.1_Nonsense_Mutation_p.Q256*|INPP4A_ENST00000409016.3_Nonsense_Mutation_p.Q888*	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	927					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.Q888*(2)|p.Q927*(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGTCTTCACCCAGGCCCTGGA	0.662000													26	32					0	0	0.018920	0	0
CSMD2	114784	broad.mit.edu	37	1	34554714	34554714	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:34554714C>A	ENST00000373381.4	-	2	444	c.268G>T	c.(268-270)Gcc>Tcc	p.A90S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	50	CUB 1.					integral to membrane|plasma membrane	protein binding	p.A50S(2)		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)				GTGCAGTTGGCGTAATTGGGG	0.552000													21	56					4.4004e-07	4.77975e-07	0.018920	1	0
BASP1	10409	broad.mit.edu	37	5	17275998	17275998	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:17275998G>A	ENST00000322611.3	+	2	933	c.673G>A	c.(673-675)Gtg>Atg	p.V225M		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	225					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	p.V225M(2)		endometrium(1)|lung(8)	9						AACCGTAACCGTGAAAGAGTG	0.537000													12	60					0	0	0.024245	0	0
HEG1	57493	broad.mit.edu	37	3	124739860	124739860	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:124739860A>T	ENST00000311127.4	-	4	1095	c.1028T>A	c.(1027-1029)cTg>cAg	p.L343Q		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	343						extracellular region|integral to membrane	calcium ion binding	p.L343Q(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CAAAGATCGCAGCGTTCTCGG	0.532000													5	27					0	0	0.021553	0	0
MRPL17	63875	broad.mit.edu	37	11	6704014	6704014	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:6704014G>C	ENST00000288937.6	-	2	311	c.207C>G	c.(205-207)aaC>aaG	p.N69K		NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	69					translation	ribosome	protein domain specific binding|structural constituent of ribosome	p.N69K(2)		lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGCTCGTTCGTTAGTGTCTC	0.512000													18	45					0	0	0.016522	0	0
INPP5A	3632	broad.mit.edu	37	10	134459432	134459432	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:134459432A>C	ENST00000368594.3	+	3	455	c.178A>C	c.(178-180)Aac>Cac	p.N60H	INPP5A_ENST00000368593.3_Missense_Mutation_p.N60H	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	60					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TGGAGGGAAGAACTACGAGGC	0.607000													5	45					0	0	0.021553	0	0
UBTF	7343	broad.mit.edu	37	17	42286812	42286812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:42286812G>A	ENST00000302904.4	-	17	2305	c.1813C>T	c.(1813-1815)Cag>Tag	p.Q605*	UBTF_ENST00000393606.3_Nonsense_Mutation_p.Q568*|UBTF_ENST00000533177.1_Nonsense_Mutation_p.Q568*|UBTF_ENST00000527034.1_Nonsense_Mutation_p.Q568*|UBTF_ENST00000526094.1_Nonsense_Mutation_p.Q568*|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_Nonsense_Mutation_p.Q568*|UBTF_ENST00000529383.1_Nonsense_Mutation_p.Q605*|UBTF_ENST00000436088.1_Nonsense_Mutation_p.Q605*			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	605					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	p.Q605*(2)		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)		GAGATGCGCTGCCAGCGACTG	0.587000													22	63					0	0	0.016522	0	0
AJUBA	84962	broad.mit.edu	37	14	23445718	23445718	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:23445718A>T	ENST00000262713.2	-	4	1561	c.1186T>A	c.(1186-1188)Ttt>Att	p.F396I	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.F396I|AJUBA_ENST00000397388.3_5'UTR	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	396	LIM zinc-binding 1.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	p.F396I(2)									GCCTCCTGAAACCCTGAAAAC	0.468000													37	213					0	0	0.019004	0	0
FAM135B	51059	broad.mit.edu	37	8	139268979	139268979	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:139268979T>A	ENST00000395297.1	-	5	491	c.321A>T	c.(319-321)gtA>gtT	p.V107V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	107										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)			GTTGAAAATCTACTTCACTCA	0.438000										HNSCC(54;0.14)			4	64					0	0	0.009096	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098634	78098634	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:78098634G>A	ENST00000370801.3	-	5	881	c.406C>T	c.(406-408)Cct>Tct	p.P136S	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P136S(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GATTTTATAGGAGAATCTTCT	0.383000													89	172					0	0	0.014410	0	0
TOP2A	7153	broad.mit.edu	37	17	38546301	38546301	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr17:38546301C>T	ENST00000423485.1	-	34	4541	c.4383G>A	c.(4381-4383)aaG>aaA	p.K1461K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1461					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TGCGGCGATTCTTGGTTTTGG	0.448000													5	64					0	0	0.014758	0	0
TIMD4	91937	broad.mit.edu	37	5	156381703	156381703	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:156381703C>G	ENST00000274532.2	-	2	179	c.123G>C	c.(121-123)ctG>ctC	p.L41L	TIMD4_ENST00000407087.3_Silent_p.L41L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	41	Ig-like V-type.					integral to membrane		p.L41L(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGATGAGTACAGACAGGGCA	0.527000													41	50					0	0	0.009718	0	0
CYFIP1	23191	broad.mit.edu	37	15	23000107	23000107	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:23000107G>C	ENST00000313077.7	+	30	3586	c.3461G>C	c.(3460-3462)gGt>gCt	p.G1154A	CYFIP1_ENST00000560848.1_Missense_Mutation_p.G1154A|CYFIP1_ENST00000435939.2_Missense_Mutation_p.G723A	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	1154					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	p.G1154A(2)|p.G723A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CAGTGCTTTGGTGATGGGCTA	0.483000													21	78					0	0	0.018920	0	0
CDC5L	988	broad.mit.edu	37	6	44371547	44371547	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:44371547C>A	ENST00000371477.3	+	6	840	c.539_splice	c.e6-1	p.R181_splice		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	181					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	p.R181S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTTTTCAGACGTCTTGCTGC	0.353000													26	40					1.1804e-14	1.42553e-14	0.021523	1	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928496	32928496	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:32928496A>G	ENST00000361627.3	+	12	2244	c.1522A>G	c.(1522-1524)Act>Gct	p.T508A	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.T319A|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.T319A	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	508					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.T508A(2)		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)		AACCTTACTAACTCCAGAGCG	0.358000													16	86					0	0	0.006122	0	0
LIN28A	79727	broad.mit.edu	37	1	26738039	26738039	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:26738039C>T	ENST00000326279.6	+	2	308	c.194C>T	c.(193-195)gCg>gTg	p.A65V	LIN28A_ENST00000254231.4_Missense_Mutation_p.A65V	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	65	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding	p.A65V(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GCCGGGGTCGCGCTCGACCCC	0.647000													43	99					0	0	0.014410	0	0
UBR4	23352	broad.mit.edu	37	1	19408294	19408295	+	Frame_Shift_Ins	INS	-	-	C	rs75559748	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:19408294_19408295insC	ENST00000375225.3	-	1	439_440	c.6_7insG	c.(4-9)ggcaggfs	p.R3fs	UBR4_ENST00000375224.1_Intron|UBR4_ENST00000429347.2_Intron|UBR4_ENST00000375254.3_Intron|UBR4_ENST00000543981.1_Intron|UBR4_ENST00000375267.2_Intron|UBR4_ENST00000375217.2_Intron|UBR4_ENST00000375226.2_Intron			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	0					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCTTCCCTGGCCCCATGTCTA	0.545													14	17	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1847					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.G1848fs*6(3)	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)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								11	366	---	---	---	---					
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:36935322_36935323insG	ENST00000373103.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)ccgcgcfs	p.R469fs	CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634													8	230	---	---	---	---					
PIK3R3	8503	broad.mit.edu	37	1	46546323	46546324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:46546323_46546324insC	ENST00000262741.5	-	2	894_895	c.205_206insG	c.(205-207)tatfs	p.Y69fs	PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	69	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CCTTGAAATATCCCCCCAGTAC	0.381													9	500	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													15	239	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													17	246	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													9	152	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													15	367	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													18	501	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													3	4	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													15	453	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584150	145584151	+	Frame_Shift_Ins	INS	-	-	G	rs34574009		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:145584150_145584151insG	ENST00000393045.2	+	11	1391_1392	c.1301_1302insG	c.(1300-1302)cggfs	p.R434fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.R399fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	434					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCCCAGTCCAGGGGGGAGATC	0.495													7	355	---	---	---	---					
RPRD2	23248	broad.mit.edu	37	1	150445611	150445612	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:150445611_150445612insC	ENST00000401000.4	+	10	4174_4175	c.4109_4110insC	c.(4108-4110)gccfs	p.A1370fs	RPRD2_ENST00000369068.4_Frame_Shift_Ins_p.A1396fs|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1396	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGCAGCAGTGGCCCCCCCTTGG	0.614													8	84	---	---	---	---					
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1807-1812)tgggggfs	p.WG603fs	TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs|TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	603					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.C603C(2)|p.G604W(1)		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)	CAGAAAGCTGCGGGGGGAAATG	0.569													7	374	---	---	---	---					
ECM1	1893	broad.mit.edu	37	1	150482150	150482151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:150482150_150482151insC	ENST00000369047.4	+	3	260_261	c.135_136insC	c.(133-138)gcccccfs	p.AP45fs	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Frame_Shift_Ins_p.AP45fs|ECM1_ENST00000346569.6_Frame_Shift_Ins_p.AP45fs	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	45					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTACGCAGCTCCCCCCTCCCC	0.584													9	707	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													10	231	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975813	152975836	+	In_Frame_Del	DEL	ACACCAAGGTCCCTGAACCAGGCA	ACACCAAGGTCCCTGAACCAGGCA	-	rs1970328	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:152975813_152975836delACACCAAGGTCCCTGAACCAGGCA	ENST00000331860.3	+	3	467_490	c.317_340delACACCAAGGTCCCTGAACCAGGCA	c.(316-342)tgc>t	p.YTKVPEPGS106del	SPRR3_ENST00000542696.1_In_Frame_Del_p.YTKVPEPGS98del|SPRR3_ENST00000295367.4_In_Frame_Del_p.YTKVPEPGS106del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	106	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCATCAAGGT	0.567													8	274	---	---	---	---					
TDRD10	126668	broad.mit.edu	37	1	154493907	154493908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:154493907_154493908insC	ENST00000368482.4	+	6	1159_1160	c.321_322insC	c.(319-324)agccccfs	p.SP107fs	TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs|TDRD10_ENST00000479937.1_3'UTR	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	107	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGCAAAAGGCCCCCCAAGAG	0.520													9	467	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)ttafs	p.L18fs	MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.L18fs			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574													8	89	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158576486	158576487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:158576486_158576487insG	ENST00000361284.1	+	1	258_259	c.258_259insG	c.(256-261)gcggggfs	p.AG86fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	86					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)					CTGGCCTGGCTGGGGGGGACCA	0.554													28	1056	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)cccfs	p.P282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282					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)					TACTGTAGTGACCCCCCTCCTT	0.460													12	1439	---	---	---	---					
ATP1A4	480	broad.mit.edu	37	1	160134105	160134106	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:160134105_160134106insT	ENST00000368081.4	+	7	1409_1410	c.938_939insT	c.(937-939)attfs	p.I313fs		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	313					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)			CTTGGTGTCACTTTTTTTGCGC	0.535													7	883	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:167865905_167865906insG	ENST00000367848.1	-	7	887_888	c.390_391insC	c.(388-393)ccatttfs	p.F131fs	ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs			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													8	445	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5049)accfs	p.T1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.470													17	492	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		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						TGGAGTGCTGTCCCCCCCACAT	0.396													17	343	---	---	---	---					
FAM71A	149647	broad.mit.edu	37	1	212799845	212799845	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:212799845delG	ENST00000294829.3	+	1	2057	c.1626delG	c.(1624-1626)gtfs	p.V542fs	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	542										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)		CAAAAGTAGTGGGCACACCAC	0.582													77	113	---	---	---	---					
HK2	3099	broad.mit.edu	37	2	75113706	75113707	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:75113706_75113707insG	ENST00000290573.2	+	15	2725_2726	c.2125_2126insG	c.(2125-2127)gggfs	p.G709fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.G681fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	709	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GAACATGGAATGGGGGGCCTTC	0.564													9	549	---	---	---	---					
REG1B	5968	broad.mit.edu	37	2	79314038	79314040	+	In_Frame_Del	DEL	TCT	TCT	-	rs139007123	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:79314038_79314040delTCT	ENST00000305089.3	-	3	161_163	c.81_83delAGA	c.(79-84)acg>ac	p.TE27del		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	27					cell proliferation	extracellular region	sugar binding	p.E28Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						ATTAGGCAGCTCTGTCTGGGACT	0.493													56	273	---	---	---	---					
VWA3B	200403	broad.mit.edu	37	2	98914463	98914464	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:98914463_98914464insG	ENST00000477737.1	+	24	3455_3456	c.3251_3252insG	c.(3250-3252)gggfs	p.G1084fs	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1084										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATCACGCCTGTGGGGGGCGCCA	0.584													8	454	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102626105	102626106	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:102626105_102626106insC	ENST00000332549.3	+	3	378_379	c.149_150insC	c.(148-150)tccfs	p.S50fs	IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.S50fs|IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.S50fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	50	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GCCCTGAGGTGCCCCCAGGTGC	0.599													7	945	---	---	---	---					
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:109539836_109539837insG	ENST00000409271.1	-	6	872_873	c.429_430insC	c.(427-432)ccacacfs	p.H144fs	EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535													9	303	---	---	---	---					
IWS1	55677	broad.mit.edu	37	2	128262355	128262356	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:128262355_128262356insT	ENST00000295321.4	-	3	1382_1383	c.1123_1124insA	c.(1123-1125)ggafs	p.G375fs	IWS1_ENST00000455721.2_Frame_Shift_Ins_p.G382fs|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	375	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ATCACTGTCCATTTTTTGCTTT	0.401													7	511	---	---	---	---					
NR4A2	4929	broad.mit.edu	37	2	157186373	157186374	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:157186373_157186374insG	ENST00000339562.4	-	3	687_688	c.325_326insC	c.(325-327)gtcfs	p.V109fs	NR4A2_ENST00000539077.1_Frame_Shift_Ins_p.V120fs|NR4A2_ENST00000429376.1_Frame_Shift_Ins_p.V46fs|NR4A2_ENST00000426264.1_Frame_Shift_Ins_p.V46fs|NR4A2_ENST00000409572.1_Frame_Shift_Ins_p.V109fs|NR4A2_ENST00000409108.2_Frame_Shift_Ins_p.V109fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	109	Gln-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.Q109fs*3(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CTCCTCAGACTGGGGGGGCAGG	0.604													8	74	---	---	---	---					
SLC4A10	57282	broad.mit.edu	37	2	162728850	162728850	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:162728850delA	ENST00000375514.5	+	8	1134	c.847delA	c.(847-849)aafs	p.K283fs	SLC4A10_ENST00000272716.5_Frame_Shift_Del_p.K272fs|SLC4A10_ENST00000415876.2_Frame_Shift_Del_p.K272fs|SLC4A10_ENST00000421911.1_Frame_Shift_Del_p.K272fs|SLC4A10_ENST00000446997.1_Frame_Shift_Del_p.K272fs|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Frame_Shift_Del_p.K272fs	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	272					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						TGTTGAAAATAAAAATGATGT	0.368											OREG0004894	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	16	250	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					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						AGGACATAACTGGGGGGGATGT	0.421													13	218	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					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)		GACTATTTCAAGGGGGGGACTG	0.431													18	743	---	---	---	---					
FAM117B	150864	broad.mit.edu	37	2	203621968	203621969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:203621968_203621969insC	ENST00000303116.6	+	6	1147_1148	c.405_406insC	c.(403-408)ccccccfs	p.PP135fs	FAM117B_ENST00000392238.2_Frame_Shift_Ins_p.PP379fs	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	379										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ATCGTGCTCCACCCCCCCTTGT	0.485													9	134	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2334)cccfs	p.P778fs	ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		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)		AGGAACCTTCACCCCCCCAAGG	0.455													10	101	---	---	---	---					
RNF25	64320	broad.mit.edu	37	2	219529513	219529514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:219529513_219529514insC	ENST00000295704.2	-	9	1189_1190	c.749_750insG	c.(748-750)gatfs	p.D250fs		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	250					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	p.I251fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCAATGATTCCCCCCCGCTC	0.564													7	176	---	---	---	---					
INHA	3623	broad.mit.edu	37	2	220437222	220437223	+	Frame_Shift_Ins	INS	-	-	C	rs12720060	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:220437222_220437223insC	ENST00000243786.2	+	1	306_307	c.126_127insC	c.(124-129)ggccccfs	p.GP42fs	INHA_ENST00000489456.1_Intron	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	42					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		ATGCCTTGGGGCCCCCCGCGGT	0.688											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2	4	---	---	---	---					
SLC4A3	6508	broad.mit.edu	37	2	220502412	220502413	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:220502412_220502413insC	ENST00000358055.3	+	17	3157_3158	c.2645_2646insC	c.(2644-2646)gccfs	p.A882fs	SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.A909fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.A882fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.A909fs|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.A882fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	882	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCACCGAGGGCCCCCCCAGCC	0.644													8	33	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-939)tccfs	p.S313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.																TCAGTGCCATGCCCCCCCAAGG	0.619													9	110	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													11	352	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					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)	AATCACCAGGTGGGGGGGCAGG	0.535													22	434	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													9	328	---	---	---	---					
COL6A6	131873	broad.mit.edu	37	3	130285632	130285633	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:130285632_130285633insC	ENST00000358511.6	+	4	1400_1401	c.1369_1370insC	c.(1369-1371)gttfs	p.V457fs	COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.V457fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	457	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAAATGAAGACGTTCCTGTCA	0.500													31	179	---	---	---	---					
PIK3CB	5291	broad.mit.edu	37	3	138413709	138413710	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:138413709_138413710insG	ENST00000477593.1	-	13	1883_1884	c.1810_1811insC	c.(1810-1812)ggafs	p.G604fs	PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.G604fs|PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.G50fs			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	604	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAGGGCCTCCCGGGGGGGCAGT	0.465													8	96	---	---	---	---					
CLSTN2	64084	broad.mit.edu	37	3	140281113	140281113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:140281113delG	ENST00000458420.3	+	13	2365	c.2175delG	c.(2173-2175)ctfs	p.L725fs		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	725					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AACGACACCTGGATGCCACTA	0.527										HNSCC(16;0.037)			30	116	---	---	---	---					
COMMD2	51122	broad.mit.edu	37	3	149470067	149470068	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:149470067_149470068insA	ENST00000473414.1	-	2	128_129	c.74_75insT	c.(73-75)ggafs	p.G25fs		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	25							protein binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCCAAACTCGGCGACCACTGC	0.619													40	236	---	---	---	---					
SLC51A	200931	broad.mit.edu	37	3	195955037	195955038	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:195955037_195955038insG	ENST00000296327.5	+	5	623_624	c.414_415insG	c.(412-417)ttggggfs	p.LG138fs		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		TGGAAGGCTTTGGGGGGAAGGA	0.614													9	647	---	---	---	---					
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:79238582_79238583insC	ENST00000264895.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1881)accfs	p.T627fs	FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	627					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						ACAGCCTGCAGCCCCCCCAAGG	0.574													9	188	---	---	---	---					
HELQ	113510	broad.mit.edu	37	4	84376684	84376698	+	In_Frame_Del	DEL	TTTTCCGCCTCCTGT	TTTTCCGCCTCCTGT	-	rs150006112	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:84376684_84376698delTTTTCCGCCTCCTGT	ENST00000295488.3	-	1	311_325	c.149_163delACAGGAGGCGGAAAA	c.(148-165)acc>a	p.NRRRKT50del	HELQ_ENST00000440639.2_5'UTR|HELQ_ENST00000510985.1_In_Frame_Del_p.NRRRKT50del	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	50							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ACGCCCGCGGTTTTCCGCCTCCTGTTCTCAGCCAC	0.600								Other identified genes with known or suspected DNA repair function			OREG0016254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	130	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													9	405	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799540	31799541	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:31799540_31799541insC	ENST00000438447.1	+	2	573_574	c.185_186insC	c.(184-186)accfs	p.T62fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T62fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	62					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.E65fs*34(1)|p.E65fs*21(1)		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						CCTGATCACAGCCCCCCCGAAA	0.589													10	278	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)gggfs	p.G101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1.				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						TGAAAAGCGCAGGGGGGGCAAG	0.574													7	204	---	---	---	---					
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:32789822_32789823delGT	ENST00000326958.1	+	1	878_879	c.315_316delGT	c.(313-318)gggtfs	p.GC105fs	NPR3_ENST00000265074.8_3'UTR																							CTGATTTTGGGTGTGTGTGTGT	0.421													9	442	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36608557	36608558	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:36608557_36608558insG	ENST00000265113.4	+	2	508_509	c.32_33insG	c.(31-33)aggfs	p.R11fs	SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.R11fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	11					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GAGCCCAAGATGGGGGGCAGGA	0.455													7	250	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													15	906	---	---	---	---					
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:38407191_38407192insG	ENST00000322350.5	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)gggfs	p.G364fs	EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.S367fs*12(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACTACACCTGGGGGGGCTCG	0.545													8	152	---	---	---	---					
FYB	2533	broad.mit.edu	37	5	39203039	39203040	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:39203039_39203040insC	ENST00000351578.6	-	2	213_214	c.23_24insG	c.(22-24)gaafs	p.E8fs	FYB_ENST00000512982.1_Frame_Shift_Ins_p.E8fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.E8fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.E18fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.E8fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	8					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)			CTGTCGGGTTGCCCCCCGTGTT	0.446													7	300	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													7	238	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													10	783	---	---	---	---					
RAPGEF6	51735	broad.mit.edu	37	5	130782331	130782332	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:130782331_130782332insT	ENST00000509018.1	-	22	3470_3471	c.3265_3266insA	c.(3265-3267)ggcfs	p.G1089fs	RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.G1089fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.G1097fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.G1097fs|FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.G1139fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Ins_p.G812fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.G1102fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1089					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)		GCGGCGTGCCCTTTTTTTGTGA	0.450													7	157	---	---	---	---					
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:131722730_131722731insC	ENST00000245407.3	+	5	1059_1060	c.838_839insC	c.(838-840)cccfs	p.P280fs	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	280					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CATCCCTGAGTCCCCCCGATGG	0.545											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	565	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(307-312)ctccccfs	p.LP103fs	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	237						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCTGCTACTGCCCCCCAAAAA	0.584													10	227	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													10	282	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													24	1608	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30569333	30569334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:30569333_30569334insG	ENST00000376511.2	-	20	3367_3368	c.2815_2816insC	c.(2815-2817)gccfs	p.A939fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	939					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCCCTAGGGCAGGGGGGGCCCA	0.569													7	170	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30571392	30571393	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:30571392_30571393insC	ENST00000376511.2	-	16	2175_2176	c.1623_1624insG	c.(1621-1626)ggcaggfs	p.R542fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	542	Gly-rich.|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GAGCCACCTGACCCCCCAGGTT	0.530													7	687	---	---	---	---					
ATAT1	79969	broad.mit.edu	37	6	30610756	30610757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:30610756_30610757insG	ENST00000376483.4	+	10	946_947	c.936_937insG	c.(934-939)ccggggfs	p.PG312fs	ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000376485.4_Frame_Shift_Ins_p.PG312fs|ATAT1_ENST00000319027.5_Frame_Shift_Ins_p.PG289fs|ATAT1_ENST00000376478.2_Frame_Shift_Ins_p.PG289fs|ATAT1_ENST00000329992.8_Frame_Shift_Ins_p.PG312fs|ATAT1_ENST00000330083.5_Frame_Shift_Ins_p.PG300fs|ATAT1_ENST00000318999.7_Frame_Shift_Ins_p.PG289fs			Q5SQI0	ATAT_HUMAN	alpha tubulin acetyltransferase 1	312							tubulin N-acetyltransferase activity	p.S315fs*>10(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CTGCTGACCCTGGGGGCAGCCC	0.604													9	785	---	---	---	---					
HLA-DRB1	3123	broad.mit.edu	37	6	32557568	32557569	+	Translation_Start_Site	INS	-	-	AT	rs17204758		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:32557568_32557569insAT	ENST00000360004.5	-	0	56_57					NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCAAGTCTCACTCAGGGAGAAC	0.540										Multiple Myeloma(14;0.17)			19	40	---	---	---	---					
HLA-DOA	3111	broad.mit.edu	37	6	32975278	32975279	+	Frame_Shift_Ins	INS	-	-	G	rs115076830	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:32975278_32975279insG	ENST00000229829.5	-	3	497_498	c.422_423insC	c.(421-423)cgtfs	p.R141fs	HLA-DOA_ENST00000495532.1_5'UTR|HLA-DOA_ENST00000450833.2_Frame_Shift_Ins_p.R111fs	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	141	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						TATTGATCACAGGGGGGAAGAT	0.584													7	578	---	---	---	---					
VPS52	6293	broad.mit.edu	37	6	33219719	33219720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:33219719_33219720insG	ENST00000445902.2	-	18	2041_2042	c.1823_1824insC	c.(1822-1824)cttfs	p.L608fs	HCG25_ENST00000427196.1_RNA|VPS52_ENST00000436044.2_Frame_Shift_Ins_p.L483fs|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|HCG25_ENST00000450514.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	608					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						AACCCCCAAAAGGGGGAGACAG	0.480													8	199	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)cccfs	p.P308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.540			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				20	310	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													10	233	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55113573	55113574	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:55113573_55113574insT	ENST00000370862.3	+	2	696_697	c.360_361insT	c.(358-363)tgttttfs	p.CF120fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	120					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAGACCTGGTTTTTTGGACA	0.431													7	1027	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													9	473	---	---	---	---					
FNDC1	84624	broad.mit.edu	37	6	159677570	159677571	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:159677570_159677571delGT	ENST00000297267.9	+	18	5281_5282	c.5081_5082delGT	c.(5080-5082)afs	p.S1694fs	FNDC1_ENST00000340366.6_Frame_Shift_Del_p.S1631fs	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1694	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TTGGTTTACAGTGCATCCTATG	0.460													115	266	---	---	---	---					
PPP1R17	10842	broad.mit.edu	37	7	31735178	31735179	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:31735178_31735179insA	ENST00000342032.3	+	3	806_807	c.178_179insA	c.(178-180)aaafs	p.K60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	60					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											TGAGTCAGACCAAAAAAAACCA	0.436													9	363	---	---	---	---					
SRRT	51593	broad.mit.edu	37	7	100479331	100479332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:100479331_100479332insG	ENST00000388793.4	+	4	523_524	c.303_304insG	c.(301-306)gcggggfs	p.AG101fs	SRRT_ENST00000432932.1_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000457580.2_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000347433.4_Frame_Shift_Ins_p.AG101fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	101					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104fs*45(1)		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						TGCCCTATGCTGGGGGGGGTGG	0.609													10	85	---	---	---	---					
EPHB6	2051	broad.mit.edu	37	7	142562308	142562309	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:142562308_142562309insG	ENST00000392957.2	+	7	1537_1538	c.750_751insG	c.(748-753)gcggggfs	p.AG250fs	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.AG250fs	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	250	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCAGTGGGGCTGGGGGGGCCTC	0.683													7	65	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													7	753	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:18413784_18413785insG	ENST00000440756.2	-	15	2970_2971	c.2868_2869insC	c.(2866-2871)ccacaafs	p.Q957fs	PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.480													7	483	---	---	---	---					
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)cccfs	p.P13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		13						integral to membrane	ATP binding|protein kinase activity										GAGAGGCCTCGCCCCCCGAGAG	0.540													8	335	---	---	---	---					
ZHX1	11244	broad.mit.edu	37	8	124265850	124265867	+	In_Frame_Del	DEL	TTTAAATTTTATGAGTGA	TTTAAATTTTATGAGTGA	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:124265850_124265867delTTTAAATTTTATGAGTGA	ENST00000395571.3	-	3	2937_2954	c.2320_2337delTCACTCATAAAATTTAAA	c.(2320-2337)del	p.SLIKFK774del	ZHX1_ENST00000297857.2_In_Frame_Del_p.SLIKFK774del|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_In_Frame_Del_p.SLIKFK774del	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	774					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I776K(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CAGTTCCAGTTTTAAATTTTATGAGTGATGGTCCCCTG	0.440													7	266	---	---	---	---					
ZNF623	9831	broad.mit.edu	37	8	144732931	144732931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:144732931delG	ENST00000501748.2	+	1	978	c.889delG	c.(889-891)ggfs	p.G297fs	ZNF623_ENST00000526926.1_Frame_Shift_Del_p.G257fs|ZNF623_ENST00000458270.2_Frame_Shift_Del_p.G257fs	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAAAGAATGTGGGAAGGCATT	0.453													78	395	---	---	---	---					
TEK	7010	broad.mit.edu	37	9	27204925	27204926	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:27204925_27204926insG	ENST00000380036.4	+	14	2668_2669	c.2226_2227insG	c.(2224-2229)ggggggfs	p.GG742fs	TEK_ENST00000406359.4_Frame_Shift_Ins_p.GG699fs|TEK_ENST00000519097.1_Frame_Shift_Ins_p.GG595fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	742					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)		CGGACCTCGGAGGGGGGAAGAT	0.510													8	154	---	---	---	---					
ANKRD19P	138649	broad.mit.edu	37	9	95647320	95647320	+	RNA	DEL	G	G	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:95647320delG	ENST00000473204.1	+	0	2259				RP11-526D8.7_ENST00000446878.1_RNA																							TAGCTTCCCCGGATCCTTGAA	0.592													64	256	---	---	---	---					
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:95649123_95649124insC	ENST00000473204.1	+	0	2259																											GCAATCTAGCACCCCCCAAAAG	0.540													9	175	---	---	---	---					
CCDC180	100499483	broad.mit.edu	37	9	100082417	100082418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:100082417_100082418insC	ENST00000375202.2	+	25	2573_2574	c.1221_1222insC	c.(1219-1224)ctccccfs	p.LP407fs	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.LP404fs|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.LP506fs|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.LP407fs|CCDC180_ENST00000357054.1_Frame_Shift_Ins_p.LP546fs					coiled-coil domain containing 180																		GTGACCTCCTGCCCCCCAGTTA	0.505													7	330	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					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						TGTTGCCCTCGCCCCCCAAGTT	0.574													13	436	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139396481	139396482	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:139396481_139396482insC	ENST00000277541.6	-	29	5518_5519	c.5443_5444insG	c.(5443-5445)cgafs	p.R1815fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1815					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGGTCCTCGTCCCCCCACTCA	0.673			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			25	14	---	---	---	---					
CCDC3	83643	broad.mit.edu	37	10	12940430	12940431	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:12940430_12940431insG	ENST00000378839.1	-	7	1375_1376	c.423_424insC	c.(421-426)ccacctfs	p.P142fs	CCDC3_ENST00000378825.3_Frame_Shift_Ins_p.P267fs			Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	267						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CCCCGCAGGTAGGGGGGGCGCA	0.644													3	6	---	---	---	---					
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:21962451_21962452insG	ENST00000377072.3	+	11	1572_1573	c.1224_1225insG	c.(1222-1227)gaggggfs	p.EG408fs	MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	408	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL								11	570	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					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			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)					TTCCCACAGTTCCCCCCCAGTA	0.510													19	351	---	---	---	---					
PIK3AP1	118788	broad.mit.edu	37	10	98362108	98362109	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:98362108_98362109insG	ENST00000339364.5	-	16	2407_2408	c.2288_2289insC	c.(2287-2289)ccafs	p.P763fs	PIK3AP1_ENST00000371109.3_Frame_Shift_Ins_p.P362fs|PIK3AP1_ENST00000371110.2_Frame_Shift_Ins_p.P585fs	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	763	Pro-rich.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CATCCACTTGTGGGGGGCCTGG	0.505													7	261	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)cctfs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7.				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)		AGGTAAAAAGTGGGGGGCTGTT	0.604													10	300	---	---	---	---					
ARNTL	406	broad.mit.edu	37	11	13378593	13378594	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:13378593_13378594insC	ENST00000403482.3	+	1	169_170	c.165_166insC	c.(163-168)ccccccfs	p.PP55fs	ARNTL_ENST00000396441.3_Intron|ARNTL_ENST00000403510.3_Intron|ARNTL_ENST00000403290.1_Intron|ARNTL_ENST00000389708.3_Intron|ARNTL_ENST00000401424.1_Intron|ARNTL_ENST00000361003.4_Intron|ARNTL_ENST00000389707.4_Intron			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	57					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TGCTTTTTCCTCCCCCCAGGTT	0.396													7	154	---	---	---	---					
PIK3C2A	5286	broad.mit.edu	37	11	17190382	17190386	+	Frame_Shift_Del	DEL	GATCC	GATCC	-	rs66844599		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:17190382_17190386delGATCC	ENST00000265970.7	-	1	902_906	c.903_907delGGATC	c.(901-909)aactfs	p.KDP301fs	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	301					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)	GCATCCCAAGGATCCTTTGCTAGCA	0.405													10	197	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)ccactafs	p.L220fs	SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564													7	323	---	---	---	---					
RASGRP2	10235	broad.mit.edu	37	11	64507637	64507638	+	Splice_Site	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:64507637_64507638insG	ENST00000377494.1	-	5	1294		c.e5-2		RASGRP2_ENST00000377497.3_Splice_Site|RASGRP2_ENST00000354024.3_Splice_Site|RASGRP2_ENST00000394432.3_Splice_Site			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)						platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGGTAGGGCTGGGGGGGCAGG	0.569													7	54	---	---	---	---					
SLC22A20	440044	broad.mit.edu	37	11	64981745	64981746	+	RNA	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:64981745_64981746insG	ENST00000525437.1	+	0	414							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GCTGGGTGTGTGGGGGGGCTGC	0.663													2	4	---	---	---	---					
SF3B2	10992	broad.mit.edu	37	11	65820560	65820560	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:65820560delT	ENST00000528302.1	+	3	297	c.243delT	c.(241-243)ccfs	p.P82fs	SF3B2_ENST00000322535.6_Frame_Shift_Del_p.P82fs			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	82					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCGCTCCACCTCCCATGTCGG	0.483													11	166	---	---	---	---					
ARRB1	408	broad.mit.edu	37	11	74988494	74988495	+	Splice_Site	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:74988494_74988495insG	ENST00000420843.2	-	9	716		c.e9-2		ARRB1_ENST00000393505.4_Splice_Site|ARRB1_ENST00000360025.3_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTAATAGATCTGGGGGGCATAA	0.550													8	217	---	---	---	---					
LOC643733	643733	broad.mit.edu	37	11	104778247	104778248	+	RNA	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:104778247_104778248insC	ENST00000532510.1	-	0	1184_1185																											TTCCACACATTCCCCCCAGGAT	0.505													8	221	---	---	---	---					
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cccfs	p.P471fs	RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431													13	484	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				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)		AATCCTGGCACGGGGGGAGATC	0.495													17	1244	---	---	---	---					
NLRX1	79671	broad.mit.edu	37	11	119050610	119050611	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:119050610_119050611insG	ENST00000409109.1	+	7	2467_2468	c.1880_1881insG	c.(1879-1881)aggfs	p.R627fs	NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.R627fs			Q86UT6	NLRX1_HUMAN	NLR family member X1	627	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCATGTTCATGGGGGGGCTTC	0.624													8	124	---	---	---	---					
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cggfs	p.R200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569													13	197	---	---	---	---					
PRDM10	56980	broad.mit.edu	37	11	129827737	129827738	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:129827737_129827738insG	ENST00000358825.5	-	3	368_369	c.137_138insC	c.(136-138)ccafs	p.P46fs	PRDM10_ENST00000528746.1_Frame_Shift_Ins_p.P46fs|PRDM10_ENST00000360871.3_Frame_Shift_Ins_p.P46fs	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCACCTGCTGTGGGGGGCGAAC	0.545													12	1061	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)gtafs	p.V147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574													9	91	---	---	---	---					
KDM5A	5927	broad.mit.edu	37	12	442810	442811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:442810_442811insC	ENST00000399788.2	-	12	1857_1858	c.1495_1496insG	c.(1495-1497)gccfs	p.A499fs	KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.A499fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	499	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTCTTTGGCTCCCCCCTAGCA	0.465			T	NUP98	AML								7	530	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	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	164	Ig-like C2-type 1.				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)				AAAAACATACAGGGGGGGAAGA	0.564													12	259	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													19	815	---	---	---	---					
SLCO1B1	10599	broad.mit.edu	37	12	21349964	21349964	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:21349964delT	ENST00000256958.2	+	8	908	c.812delT	c.(811-813)atfs	p.I271fs		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	271					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTCTCCATTATTTCTTCCATA	0.373													7	422	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)cccfs	p.P647fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATACCTCAGGTGGGGGGGACAT	0.634													9	157	---	---	---	---					
LACRT	90070	broad.mit.edu	37	12	55026970	55027002	+	In_Frame_Del	DEL	CAGCTTCCTGGGCAGGATCAGCACCCGTCGAGT	CAGCTTCCTGGGCAGGATCAGCACCCGTCGAGT	-	rs138455492	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:55026970_55027002delCAGCTTCCTGGGCAGGATCAGCACCCGTCGAGT	ENST00000257867.4	-	2	127_159	c.74_106delACTCGACGGGTGCTGATCCTGCCCAGGAAGCTG	c.(73-108)ggg>g	p.DSTGADPAQEAG25del	LACRT_ENST00000547511.1_In_Frame_Del_p.DSTGADPAQEAG25del	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	25					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding	p.S26L(1)|p.P31R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						TCACAGGTCCCAGCTTCCTGGGCAGGATCAGCACCCGTCGAGTCAGAGGAGGC	0.588													12	542	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)gggfs	p.G272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					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)			CGTGTGCCACTGGGGGGGCTGC	0.599													19	471	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										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						GTGTTCTAACTGGGGGGGTCTC	0.371													7	171	---	---	---	---					
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(325-330)gaccccfs	p.DP109fs	USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	109					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCAGAAGGAGCCCCCCTCACA	0.485													7	948	---	---	---	---					
ZNF268	10795	broad.mit.edu	37	12	133780602	133780602	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:133780602delA	ENST00000536435.2	+	6	2660	c.2330delA	c.(2329-2331)gafs	p.E777fs	ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.E777fs|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.E616fs|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	777						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CATGCAGGGGAAAAGCCTTAT	0.408													7	17	---	---	---	---					
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:25262563_25262564insG	ENST00000218548.6	+	4	668_669	c.335_336insG	c.(334-336)gggfs	p.G112fs	ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTCT	0.584													36	943	---	---	---	---					
RASA3	22821	broad.mit.edu	37	13	114817623	114817623	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:114817623delA	ENST00000334062.7	-	3	302	c.181delT	c.(181-183)acfs	p.Y61fs	RASA3_ENST00000389544.4_Frame_Shift_Del_p.Y29fs|RASA3_ENST00000542651.1_Frame_Shift_Del_p.Y61fs	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	61	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCTTCTCCGTAAAACGGGCTA	0.493													2	4	---	---	---	---					
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)cccfs	p.P57fs		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.460													9	778	---	---	---	---					
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)cggfs	p.R529fs	SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	529							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCACTCCCTGGGGGGGTGTT	0.530													12	116	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72165808	72165809	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:72165808_72165809insG	ENST00000555818.1	+	11	3833_3834	c.3485_3486insG	c.(3484-3486)gggfs	p.G1162fs	SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.G637fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.G1162fs	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1162					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)		ACTGGTTCTGTGGGGGGCACTT	0.495													9	251	---	---	---	---					
IGHG2	3501	broad.mit.edu	37	14	106110246	106110247	+	RNA	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:106110246_106110247insG	ENST00000390545.2	-	0	370_371																											CCTTGGGTTTTGGGGGGAAGAG	0.619													7	331	---	---	---	---					
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs113800876		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226																											CCCAGTAGTAACTACTACTGCTG	0.596													21	107	---	---	---	---					
OR4N4	283694	broad.mit.edu	37	15	22382641	22382642	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:22382641_22382642insC	ENST00000328795.4	+	1	260_261	c.169_170insC	c.(169-171)cccfs	p.P57fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGGCTCACAGCCCCCCTCTAT	0.460													8	552	---	---	---	---					
GTF2A2	2958	broad.mit.edu	37	15	59942953	59942954	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:59942953_59942954insG	ENST00000396060.2	-	3	272_273	c.91_92insC	c.(91-93)actfs	p.T31fs	GTF2A2_ENST00000396061.1_Frame_Shift_Ins_p.T31fs|GTF2A2_ENST00000396063.1_Frame_Shift_Ins_p.T31fs|GTF2A2_ENST00000267869.4_Intron|GTF2A2_ENST00000396064.3_Frame_Shift_Ins_p.T31fs|GTF2A2_ENST00000484743.1_Intron|AC092755.4_ENST00000441746.1_RNA	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	31					interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity			central_nervous_system(2)|kidney(2)|lung(1)	5						AAGGGCAAGTTGGGGGGTGATC	0.376													7	162	---	---	---	---					
SEZ6L2	26470	broad.mit.edu	37	16	29891248	29891249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:29891248_29891249insG	ENST00000308713.5	-	9	2036_2037	c.1509_1510insC	c.(1507-1512)ccatgcfs	p.C504fs	SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs|SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	504	Sushi 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						TCGATGGCATTGGGGGGCCCAG	0.604													8	670	---	---	---	---					
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:30100077_30100078insC	ENST00000553607.1	-	4	1397_1398	c.704_705insG	c.(703-705)gatfs	p.D235fs	TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs			O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629													17	219	---	---	---	---					
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070545	32070545	+	RNA	DEL	C	C	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:32070545delC	ENST00000566806.1	-	0	499																											GTGCCCACTTCCTGGTGCAGC	0.582													9	143	---	---	---	---					
KCTD19	146212	broad.mit.edu	37	16	67325657	67325658	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:67325657_67325658insG	ENST00000304372.5	-	13	2356_2357	c.2301_2302insC	c.(2299-2304)cctggtfs	p.G768fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	768						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGAG	0.574													9	98	---	---	---	---					
SNTB2	6645	broad.mit.edu	37	16	69279579	69279580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:69279579_69279580insC	ENST00000336278.4	+	2	693_694	c.655_656insC	c.(655-657)cccfs	p.P219fs	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	219	PH 1.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		GGAAGGTGCAGCCCCCCAGTCA	0.450													10	491	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tac>ta	p.YP359del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	359					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453													21	524	---	---	---	---					
TLDC1	57707	broad.mit.edu	37	16	84514302	84514303	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:84514302_84514303insC	ENST00000343629.6	-	7	1271_1272	c.1089_1090insG	c.(1087-1092)ggagcafs	p.A364fs	TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.A337fs	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		TAATTGTGCTGCCCCCCCATAC	0.550													11	187	---	---	---	---					
ARHGEF15	22899	broad.mit.edu	37	17	8222137	8222138	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:8222137_8222138insG	ENST00000361926.3	+	12	2052_2053	c.1942_1943insG	c.(1942-1944)gggfs	p.G648fs	ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.G648fs|ARHGEF15_ENST00000582060.1_3'UTR	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	648					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGGGTGCCGGAGGGGGGGCGTG	0.634													7	150	---	---	---	---					
UBBP4	23666	broad.mit.edu	37	17	21731033	21731034	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:21731033_21731034insC	ENST00000584755.1	+	2	732_733	c.335_336insC	c.(334-336)accfs	p.T112fs	UBBP4_ENST00000578713.1_Frame_Shift_Ins_p.T112fs|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAAGAAGGCATCCCCCCCGACC	0.540													7	91	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					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						ATGAATGTTCTGGGGGGGCTTC	0.480													19	514	---	---	---	---					
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)gggfs	p.G76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579													10	148	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35487100	35487101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:35487100_35487101insC	ENST00000353139.5	-	46	6204_6205	c.5723_5724insG	c.(5722-5724)gatfs	p.D1908fs	ACACA_ENST00000335166.5_Frame_Shift_Ins_p.D1793fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.D1813fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.D1871fs|ACACA_ENST00000361253.5_5'UTR	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1871	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAATCTGGATGCCCCCCAGCTG	0.495													10	545	---	---	---	---					
MLLT6	4302	broad.mit.edu	37	17	36868997	36868998	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:36868997_36868998insC	ENST00000325718.7	+	8	865_866	c.774_775insC	c.(772-777)tcccccfs	p.SP258fs	MLLT6_ENST00000378137.5_Frame_Shift_Ins_p.SP258fs	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	258					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGCCTGAGTCGCCCCCCAGCAT	0.614			T	MLL	AL								10	342	---	---	---	---					
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)ggctcgfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	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)		AGGCAGCGAGACCCCCCCACGG	0.604													15	322	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													11	1405	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000580032.1_5'UTR	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													9	242	---	---	---	---					
MYOM1	8736	broad.mit.edu	37	18	3142039	3142040	+	Frame_Shift_Ins	INS	-	-	G	rs138431527	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:3142039_3142040insG	ENST00000356443.4	-	14	2255_2256	c.1922_1923insC	c.(1921-1923)cacfs	p.H641fs	MYOM1_ENST00000400569.3_Frame_Shift_Ins_p.H641fs|MYOM1_ENST00000261606.7_Frame_Shift_Ins_p.H641fs	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	641	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle	p.P641Q(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAGGTCTGTCGGGGGGCCAGG	0.545													8	348	---	---	---	---					
ALPK2	115701	broad.mit.edu	37	18	56246441	56246442	+	Frame_Shift_Ins	INS	-	-	C	rs12606191	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:56246441_56246442insC	ENST00000361673.3	-	4	1779_1780	c.1566_1567insG	c.(1564-1569)ggaggafs	p.G523fs	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	523							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						CATAAGTCCTTTCCCCCCACTC	0.520											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	332	---	---	---	---					
SALL3	27164	broad.mit.edu	37	18	76753500	76753501	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:76753500_76753501insC	ENST00000536229.3	+	1	1819_1820	c.1110_1111insC	c.(1108-1113)ctccccfs	p.LP370fs	SALL3_ENST00000537592.2_Frame_Shift_Ins_p.LP503fs|SALL3_ENST00000575389.2_Frame_Shift_Ins_p.LP503fs			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	503					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)		GCATGTCGCTGCCCCCCGAGAA	0.673													3	6	---	---	---	---					
IL12RB1	3594	broad.mit.edu	37	19	18194265	18194265	+	Frame_Shift_Del	DEL	G	G	-	rs113524129	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:18194265delG	ENST00000600835.1	-	3	404	c.101delC	c.(100-102)cgfs	p.P35fs	IL12RB1_ENST00000593993.1_Frame_Shift_Del_p.P35fs|IL12RB1_ENST00000322153.6_Frame_Shift_Del_p.P35fs|IL12RB1_ENST00000430026.2_Frame_Shift_Del_p.P35fs			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	35					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CGGATATGGCGGGTCCTGAAA	0.562													24	61	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)ggttgafs	p.*520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					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)					AGGATATCAAGCCCCCCCTTGG	0.500													8	172	---	---	---	---					
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)cccfs	p.P599fs	CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.					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)		CCCCATCATTTCCCCCCCAGAC	0.545													15	262	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													9	187	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)caafs	p.Q583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583							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)		CCCCCTGTTTTGGGGGGGTTCC	0.545													10	232	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													14	173	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													16	370	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554													14	393	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													11	241	---	---	---	---					
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)ccccctfs	p.PP464fs	SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs	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	464						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.P464P(1)		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)	ACAGCCAGGGCGGGGGGCACAT	0.604													7	668	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					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)			GGGAGGCTTTTGGGGGGGCTGG	0.545													32	737	---	---	---	---					
NFATC2	4773	broad.mit.edu	37	20	50139819	50139820	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:50139819_50139820insG	ENST00000371564.3	-	2	1179_1180	c.960_961insC	c.(958-963)ccagatfs	p.D321fs	NFATC2_ENST00000414705.1_Frame_Shift_Ins_p.D301fs|NFATC2_ENST00000396009.3_Frame_Shift_Ins_p.D321fs	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	321					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTCCACATCTTGGGGGGGATCC	0.693													9	64	---	---	---	---					
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)ccafs	p.P552fs	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673													9	73	---	---	---	---					
PMEPA1	56937	broad.mit.edu	37	20	56227348	56227349	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:56227348_56227349insG	ENST00000341744.3	-	4	943_944	c.624_625insC	c.(622-627)ccgcagfs	p.Q209fs	PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.Q174fs|PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.Q159fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	209					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAGG	0.683													9	85	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													11	572	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022443	18022444	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:18022443_18022444insG	ENST00000262608.8	+	15	2548_2549	c.2548_2549insG	c.(2548-2550)gggfs	p.G850fs	CECR2_ENST00000400585.2_Frame_Shift_Ins_p.G708fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.G849fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	891					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCAGGCTCTTCGGGGGGTGCAG	0.634													11	104	---	---	---	---					
TUBA8	51807	broad.mit.edu	37	22	18609265	18609266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:18609265_18609266insC	ENST00000330423.3	+	4	593_594	c.520_521insC	c.(520-522)cccfs	p.P174fs	TUBA8_ENST00000316027.6_Frame_Shift_Ins_p.P108fs	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	174					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						CATCTACCCAGCCCCCCAGGTC	0.545													7	270	---	---	---	---					
RTDR1	27156	broad.mit.edu	37	22	23482595	23482595	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:23482595delG	ENST00000216036.4	-	2	209	c.13delC	c.(13-15)agfs	p.Q5fs	RTDR1_ENST00000406876.1_Frame_Shift_Del_p.Q5fs	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	5							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		AAGGAGTTCTGGGAATGGGCC	0.488													8	58	---	---	---	---					
ASPHD2	57168	broad.mit.edu	37	22	26838458	26838459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:26838458_26838459insG	ENST00000215906.5	+	3	1358_1359	c.920_921insG	c.(919-921)gggfs	p.G307fs		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	307					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GAGCTGGTGGTGGGGGGAGAGC	0.559													10	364	---	---	---	---					
PRR14L	253143	broad.mit.edu	37	22	32099548	32099549	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:32099548_32099549insG	ENST00000327423.6	-	6	6176_6177	c.5987_5988insC	c.(5986-5988)cgafs	p.R1996fs	PRR14L_ENST00000397493.2_Frame_Shift_Ins_p.R1996fs|PRR14L_ENST00000434485.1_Frame_Shift_Ins_p.R1996fs	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1996										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CTTTCTGTTCTGGGGGGCTGCT	0.535													11	730	---	---	---	---					
SLC5A1	6523	broad.mit.edu	37	22	32439304	32439304	+	Frame_Shift_Del	DEL	G	G	-	rs148720069	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:32439304delG	ENST00000266088.4	+	1	286	c.36delG	c.(34-36)gcfs	p.A12fs		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	12					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AGACCACCGCGGTCACCCGGC	0.597													24	53	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381													12	241	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)cccfs	p.P1234fs	TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCAGTTTATTTCCCCCCAGGTA	0.450													7	421	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													18	487	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000472791.1_3'UTR	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569													30	695	---	---	---	---					
PIR	8544	broad.mit.edu	37	X	15474016	15474016	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:15474016delA	ENST00000380421.3	-	5	895	c.435delT	c.(433-435)gafs	p.D145fs	PIR_ENST00000380420.5_Frame_Shift_Del_p.D145fs|PIR_ENST00000476381.1_5'UTR	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	145					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					CTGTCACACCATCCTTACTGG	0.468													8	141	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:40982956_40982957insC	ENST00000324545.7	+	2	708_709	c.75_76insC	c.(73-78)caccccfs	p.HP25fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	25				Q -> L (in Ref. 1; CAA66942).	BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.540													20	403	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													7	202	---	---	---	---					
OPHN1	4983	broad.mit.edu	37	X	67283757	67283757	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:67283757delG	ENST00000355520.5	-	21	2738	c.2097delC	c.(2095-2097)acfs	p.T699fs	OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	699	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						AGGGGGTCTTGGTGGGCCCAG	0.617													8	3	---	---	---	---					
SLC25A43	203427	broad.mit.edu	37	X	118586060	118586061	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:118586060_118586061insG	ENST00000217909.7	+	4	1123_1124	c.779_780insG	c.(778-780)cggfs	p.R260fs	SLC25A43_ENST00000336249.7_Frame_Shift_Ins_p.PG202fs|SLC25A43_ENST00000488158.1_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	260					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						GTGAAGGCCCAGGGGGTCCTGG	0.569													10	495	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													8	452	---	---	---	---					
FAM71A	149647	broad.mit.edu	37	1	212799845	212799845	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:212799845delG	ENST00000294829.3	+	1	2057	c.1626delG	c.(1624-1626)gtfs	p.V542fs	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	542										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)		CAAAAGTAGTGGGCACACCAC	0.582													77	125	---	---	---	---					
REG1B	5968	broad.mit.edu	37	2	79314038	79314040	+	In_Frame_Del	DEL	TCT	TCT	-	rs139007123	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:79314038_79314040delTCT	ENST00000305089.3	-	3	161_163	c.81_83delAGA	c.(79-84)acg>ac	p.TE27del		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	27					cell proliferation	extracellular region	sugar binding	p.E28Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						ATTAGGCAGCTCTGTCTGGGACT	0.493													61	248	---	---	---	---					
COL6A6	131873	broad.mit.edu	37	3	130285632	130285633	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:130285632_130285633insC	ENST00000358511.6	+	4	1400_1401	c.1369_1370insC	c.(1369-1371)gttfs	p.V457fs	COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.V457fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	457	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAAATGAAGACGTTCCTGTCA	0.500													28	133	---	---	---	---					
CLSTN2	64084	broad.mit.edu	37	3	140281113	140281113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:140281113delG	ENST00000458420.3	+	13	2365	c.2175delG	c.(2173-2175)ctfs	p.L725fs		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	725					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AACGACACCTGGATGCCACTA	0.527										HNSCC(16;0.037)			19	103	---	---	---	---					
COMMD2	51122	broad.mit.edu	37	3	149470067	149470068	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:149470067_149470068insA	ENST00000473414.1	-	2	128_129	c.74_75insT	c.(73-75)ggafs	p.G25fs		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	25							protein binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCCAAACTCGGCGACCACTGC	0.619													35	168	---	---	---	---					
ZNF623	9831	broad.mit.edu	37	8	144732931	144732931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:144732931delG	ENST00000501748.2	+	1	978	c.889delG	c.(889-891)ggfs	p.G297fs	ZNF623_ENST00000526926.1_Frame_Shift_Del_p.G257fs|ZNF623_ENST00000458270.2_Frame_Shift_Del_p.G257fs	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAAAGAATGTGGGAAGGCATT	0.453													33	121	---	---	---	---					
ANKRD19P	138649	broad.mit.edu	37	9	95647320	95647320	+	RNA	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:95647320delG	ENST00000473204.1	+	0	2259				RP11-526D8.7_ENST00000446878.1_RNA																							TAGCTTCCCCGGATCCTTGAA	0.592													65	238	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139396481	139396482	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:139396481_139396482insC	ENST00000277541.6	-	29	5518_5519	c.5443_5444insG	c.(5443-5445)cgafs	p.R1815fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1815					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGGTCCTCGTCCCCCCACTCA	0.673			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			70	69	---	---	---	---					
LINC01515	101928913	broad.mit.edu	37	10	67425380	67425380	+	RNA	DEL	A	A	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:67425380delA	ENST00000433152.3	+	0	720																											acttacttagaaaaactttaa	0.264													3	6	---	---	---	---					
CNTN5	53942	broad.mit.edu	37	11	99690425	99690425	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:99690425delG	ENST00000524871.1	+	4	496	c.206delG	c.(205-207)tgfs	p.W69fs	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Frame_Shift_Del_p.W69fs|CNTN5_ENST00000527185.1_Frame_Shift_Del_p.W69fs|CNTN5_ENST00000528682.1_Frame_Shift_Del_p.W69fs	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	69					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCACCCAGCTGGCTAGGGGCA	0.433													8	94	---	---	---	---					
KCNA6	3742	broad.mit.edu	37	12	4920328	4920328	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:4920328delG	ENST00000433855.1	+	1	1987	c.1121delG	c.(1120-1122)agfs	p.R374fs	KCNA6_ENST00000280684.3_Frame_Shift_Del_p.R374fs	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	374						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GCCTCCATGAGGGAGCTGGGG	0.597										HNSCC(72;0.22)			16	48	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25475908	25475908	+	RNA	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:25475908delG	ENST00000453082.2	+	0	1503					NR_003343.1																						AGCCCTTCCTGGCGCCCTGGA	0.597													16	108	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gag>g	p.EGQGQGQGQ178del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	178					Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													3	5	---	---	---	---					
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)ggg>g	p.DG57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532													11	817	---	---	---	---					
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070545	32070545	+	RNA	DEL	C	C	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:32070545delC	ENST00000566806.1	-	0	499																											GTGCCCACTTCCTGGTGCAGC	0.582													10	101	---	---	---	---					
IL12RB1	3594	broad.mit.edu	37	19	18194265	18194265	+	Frame_Shift_Del	DEL	G	G	-	rs113524129	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:18194265delG	ENST00000600835.1	-	3	404	c.101delC	c.(100-102)cgfs	p.P35fs	IL12RB1_ENST00000593993.1_Frame_Shift_Del_p.P35fs|IL12RB1_ENST00000430026.2_Frame_Shift_Del_p.P35fs|IL12RB1_ENST00000322153.6_Frame_Shift_Del_p.P35fs			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	35					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CGGATATGGCGGGTCCTGAAA	0.562													47	125	---	---	---	---					
RTDR1	27156	broad.mit.edu	37	22	23482595	23482595	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:23482595delG	ENST00000216036.4	-	2	209	c.13delC	c.(13-15)agfs	p.Q5fs	RTDR1_ENST00000406876.1_Frame_Shift_Del_p.Q5fs	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	5							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		AAGGAGTTCTGGGAATGGGCC	0.488													7	77	---	---	---	---					
SLC5A1	6523	broad.mit.edu	37	22	32439304	32439304	+	Frame_Shift_Del	DEL	G	G	-	rs148720069	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:32439304delG	ENST00000266088.4	+	1	286	c.36delG	c.(34-36)gcfs	p.A12fs		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	12					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AGACCACCGCGGTCACCCGGC	0.597													20	50	---	---	---	---					
OPHN1	4983	broad.mit.edu	37	X	67283757	67283757	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:67283757delG	ENST00000355520.5	-	21	2738	c.2097delC	c.(2095-2097)acfs	p.T699fs	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	699	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						AGGGGGTCTTGGTGGGCCCAG	0.617													9	11	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975813	152975836	+	In_Frame_Del	DEL	ACACCAAGGTCCCTGAACCAGGCA	ACACCAAGGTCCCTGAACCAGGCA	-	rs1970328	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:152975813_152975836delACACCAAGGTCCCTGAACCAGGCA	ENST00000331860.3	+	3	467_490	c.317_340delACACCAAGGTCCCTGAACCAGGCA	c.(316-342)tgc>t	p.YTKVPEPGS106del	SPRR3_ENST00000542696.1_In_Frame_Del_p.YTKVPEPGS98del|SPRR3_ENST00000295367.4_In_Frame_Del_p.YTKVPEPGS106del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	106	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCATCAAGGT	0.567													8	274	---	---	---	---					
FAM71A	149647	broad.mit.edu	37	1	212799845	212799845	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:212799845delG	ENST00000294829.3	+	1	2057	c.1626delG	c.(1624-1626)gtfs	p.V542fs	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	542										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)		CAAAAGTAGTGGGCACACCAC	0.582													77	113	---	---	---	---					
REG1B	5968	broad.mit.edu	37	2	79314038	79314040	+	In_Frame_Del	DEL	TCT	TCT	-	rs139007123	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:79314038_79314040delTCT	ENST00000305089.3	-	3	161_163	c.81_83delAGA	c.(79-84)acg>ac	p.TE27del		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	27					cell proliferation	extracellular region	sugar binding	p.E28Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						ATTAGGCAGCTCTGTCTGGGACT	0.493													56	273	---	---	---	---					
SLC4A10	57282	broad.mit.edu	37	2	162728850	162728850	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:162728850delA	ENST00000375514.5	+	8	1134	c.847delA	c.(847-849)aafs	p.K283fs	SLC4A10_ENST00000535165.1_Frame_Shift_Del_p.K272fs|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Frame_Shift_Del_p.K272fs|SLC4A10_ENST00000272716.5_Frame_Shift_Del_p.K272fs|SLC4A10_ENST00000421911.1_Frame_Shift_Del_p.K272fs|SLC4A10_ENST00000415876.2_Frame_Shift_Del_p.K272fs	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	272					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						TGTTGAAAATAAAAATGATGT	0.368											OREG0004894	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	16	250	---	---	---	---					
INHA	3623	broad.mit.edu	37	2	220437222	220437223	+	Frame_Shift_Ins	INS	-	-	C	rs12720060	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:220437222_220437223insC	ENST00000243786.2	+	1	306_307	c.126_127insC	c.(124-129)ggccccfs	p.GP42fs	INHA_ENST00000489456.1_Intron	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	42					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		ATGCCTTGGGGCCCCCCGCGGT	0.688											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2	4	---	---	---	---					
KCNH8	131096	broad.mit.edu	37	3	19575320	19575331	+	In_Frame_Del	DEL	CTACGTTGACGC	CTACGTTGACGC	-	rs141789900	by1000genomes	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:19575320_19575331delCTACGTTGACGC	ENST00000328405.2	+	16	3319_3330	c.3053_3064delCTACGTTGACGC	c.(3052-3066)tct>t	p.STLTP1018del		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1018	Ser-rich.					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						CATTCAGATTCTACGTTGACGCCTCTGCAGTC	0.458													43	719	---	---	---	---					
CD96	10225	broad.mit.edu	37	3	111317000	111317000	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:111317000delC	ENST00000352690.4	+	6	1081	c.841delC	c.(841-843)ccfs	p.P281fs	CD96_ENST00000283285.5_Frame_Shift_Del_p.P297fs|CD96_ENST00000438817.2_Frame_Shift_Del_p.P281fs	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	297	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GAATGTATTTCCCAAAGCAAA	0.323									Opitz Trigonocephaly syndrome				39	89	---	---	---	---					
CLSTN2	64084	broad.mit.edu	37	3	140281113	140281113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:140281113delG	ENST00000458420.3	+	13	2365	c.2175delG	c.(2173-2175)ctfs	p.L725fs		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	725					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AACGACACCTGGATGCCACTA	0.527										HNSCC(16;0.037)			30	116	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													4	5	---	---	---	---					
HELQ	113510	broad.mit.edu	37	4	84376684	84376698	+	In_Frame_Del	DEL	TTTTCCGCCTCCTGT	TTTTCCGCCTCCTGT	-	rs150006112	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr4:84376684_84376698delTTTTCCGCCTCCTGT	ENST00000295488.3	-	1	311_325	c.149_163delACAGGAGGCGGAAAA	c.(148-165)acc>a	p.NRRRKT50del	HELQ_ENST00000510985.1_In_Frame_Del_p.NRRRKT50del|HELQ_ENST00000440639.2_5'UTR	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	50							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ACGCCCGCGGTTTTCCGCCTCCTGTTCTCAGCCAC	0.600								Other identified genes with known or suspected DNA repair function			OREG0016254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	130	---	---	---	---					
FNDC1	84624	broad.mit.edu	37	6	159677570	159677571	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr6:159677570_159677571delGT	ENST00000297267.9	+	18	5281_5282	c.5081_5082delGT	c.(5080-5082)afs	p.S1694fs	FNDC1_ENST00000340366.6_Frame_Shift_Del_p.S1631fs	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1694	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TTGGTTTACAGTGCATCCTATG	0.460													115	266	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481923	142481925	+	RNA	DEL	CAA	CAA	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:142481923_142481925delCAA	ENST00000603901.1	+	0	591					NR_001296.3																						GTGATTAGACCAACCCTTCCCAT	0.537													12	95	---	---	---	---					
ZHX1	11244	broad.mit.edu	37	8	124265850	124265867	+	In_Frame_Del	DEL	TTTAAATTTTATGAGTGA	TTTAAATTTTATGAGTGA	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr8:124265850_124265867delTTTAAATTTTATGAGTGA	ENST00000395571.3	-	3	2937_2954	c.2320_2337delTCACTCATAAAATTTAAA	c.(2320-2337)del	p.SLIKFK774del	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_In_Frame_Del_p.SLIKFK774del|ZHX1_ENST00000297857.2_In_Frame_Del_p.SLIKFK774del	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	774					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I776K(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CAGTTCCAGTTTTAAATTTTATGAGTGATGGTCCCCTG	0.440													7	266	---	---	---	---					
LOC100506834	100506834	broad.mit.edu	37	9	89588158	89588159	+	RNA	DEL	CA	CA	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:89588158_89588159delCA	ENST00000415801.1	+	0	428					NR_049794.1																						TCCTCCTCCTCACACACACACA	0.455													2	4	---	---	---	---					
ANKRD19P	138649	broad.mit.edu	37	9	95647320	95647320	+	RNA	DEL	G	G	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:95647320delG	ENST00000473204.1	+	0	2259				RP11-526D8.7_ENST00000446878.1_RNA																							TAGCTTCCCCGGATCCTTGAA	0.592													64	256	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139396481	139396482	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:139396481_139396482insC	ENST00000277541.6	-	29	5518_5519	c.5443_5444insG	c.(5443-5445)cgafs	p.R1815fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1815					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGGTCCTCGTCCCCCCACTCA	0.673			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			25	14	---	---	---	---					
CCDC3	83643	broad.mit.edu	37	10	12940430	12940431	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr10:12940430_12940431insG	ENST00000378839.1	-	7	1375_1376	c.423_424insC	c.(421-426)ccacctfs	p.P142fs	CCDC3_ENST00000378825.3_Frame_Shift_Ins_p.P267fs			Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	267						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CCCCGCAGGTAGGGGGGGCGCA	0.644													3	6	---	---	---	---					
ARNTL	406	broad.mit.edu	37	11	13378593	13378594	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:13378593_13378594insC	ENST00000403482.3	+	1	169_170	c.165_166insC	c.(163-168)ccccccfs	p.PP55fs	ARNTL_ENST00000401424.1_Intron|ARNTL_ENST00000389708.3_Intron|ARNTL_ENST00000403290.1_Intron|ARNTL_ENST00000403510.3_Intron|ARNTL_ENST00000389707.4_Intron|ARNTL_ENST00000396441.3_Intron|ARNTL_ENST00000361003.4_Intron			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	57					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TGCTTTTTCCTCCCCCCAGGTT	0.396													7	154	---	---	---	---					
PIK3C2A	5286	broad.mit.edu	37	11	17190382	17190386	+	Frame_Shift_Del	DEL	GATCC	GATCC	-	rs66844599		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:17190382_17190386delGATCC	ENST00000265970.7	-	1	902_906	c.903_907delGGATC	c.(901-909)aactfs	p.KDP301fs	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	301					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)	GCATCCCAAGGATCCTTTGCTAGCA	0.405													10	197	---	---	---	---					
RASGRP2	10235	broad.mit.edu	37	11	64507637	64507638	+	Splice_Site	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:64507637_64507638insG	ENST00000377494.1	-	5	1294		c.e5-2		RASGRP2_ENST00000394432.3_Splice_Site|RASGRP2_ENST00000377497.3_Splice_Site|RASGRP2_ENST00000354024.3_Splice_Site			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)						platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGGTAGGGCTGGGGGGGCAGG	0.569													7	54	---	---	---	---					
SLC22A20	440044	broad.mit.edu	37	11	64981745	64981746	+	RNA	INS	-	-	G			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:64981745_64981746insG	ENST00000525437.1	+	0	414							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GCTGGGTGTGTGGGGGGGCTGC	0.663													2	4	---	---	---	---					
SF3B2	10992	broad.mit.edu	37	11	65820560	65820560	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr11:65820560delT	ENST00000528302.1	+	3	297	c.243delT	c.(241-243)ccfs	p.P82fs	SF3B2_ENST00000322535.6_Frame_Shift_Del_p.P82fs			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	82					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCGCTCCACCTCCCATGTCGG	0.483													11	166	---	---	---	---					
SLCO1B1	10599	broad.mit.edu	37	12	21349964	21349964	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:21349964delT	ENST00000256958.2	+	8	908	c.812delT	c.(811-813)atfs	p.I271fs		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	271					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTCTCCATTATTTCTTCCATA	0.373													7	422	---	---	---	---					
PRPF40B	25766	broad.mit.edu	37	12	50025257	50025258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:50025257_50025258insC	ENST00000261897.1	+	2	625_626	c.74_75insC	c.(73-75)accfs	p.T25fs	PRPF40B_ENST00000548825.2_Frame_Shift_Ins_p.T53fs|PRPF40B_ENST00000380281.1_Frame_Shift_Ins_p.T31fs			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	31	Pro-rich.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCACCAGCTATCCCCCCCATGC	0.604													7	141	---	---	---	---					
LACRT	90070	broad.mit.edu	37	12	55026970	55027002	+	In_Frame_Del	DEL	CAGCTTCCTGGGCAGGATCAGCACCCGTCGAGT	CAGCTTCCTGGGCAGGATCAGCACCCGTCGAGT	-	rs138455492	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:55026970_55027002delCAGCTTCCTGGGCAGGATCAGCACCCGTCGAGT	ENST00000257867.4	-	2	127_159	c.74_106delACTCGACGGGTGCTGATCCTGCCCAGGAAGCTG	c.(73-108)ggg>g	p.DSTGADPAQEAG25del	LACRT_ENST00000547511.1_In_Frame_Del_p.DSTGADPAQEAG25del	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	25					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding	p.S26L(1)|p.P31R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						TCACAGGTCCCAGCTTCCTGGGCAGGATCAGCACCCGTCGAGTCAGAGGAGGC	0.588													12	542	---	---	---	---					
ZNF268	10795	broad.mit.edu	37	12	133780602	133780602	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:133780602delA	ENST00000536435.2	+	6	2660	c.2330delA	c.(2329-2331)gafs	p.E777fs	ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.E777fs|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.E616fs	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	777						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CATGCAGGGGAAAAGCCTTAT	0.408													7	17	---	---	---	---					
RASA3	22821	broad.mit.edu	37	13	114817623	114817623	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:114817623delA	ENST00000334062.7	-	3	302	c.181delT	c.(181-183)acfs	p.Y61fs	RASA3_ENST00000542651.1_Frame_Shift_Del_p.Y61fs|RASA3_ENST00000389544.4_Frame_Shift_Del_p.Y29fs	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	61	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCTTCTCCGTAAAACGGGCTA	0.493													2	4	---	---	---	---					
GNG2	54331	broad.mit.edu	37	14	52417413	52417413	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:52417413delC	ENST00000335281.4	+	2	423	c.17delC	c.(16-18)acfs	p.T6fs	GNG2_ENST00000555472.1_Frame_Shift_Del_p.T6fs|GNG2_ENST00000554875.1_Frame_Shift_Del_p.T35fs|GNG2_ENST00000553432.1_Frame_Shift_Del_p.T37fs|GNG2_ENST00000556752.1_Frame_Shift_Del_p.T6fs|GNG2_ENST00000557376.1_Frame_Shift_Del_p.T45fs|GNG2_ENST00000554736.1_Frame_Shift_Del_p.T6fs|GNG2_ENST00000556766.1_Frame_Shift_Del_p.T6fs|GNG2_ENST00000553299.1_3'UTR	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	6					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	AGCAACAACACCGCCAGCATA	0.453													210	473	---	---	---	---					
BCL7C	9274	broad.mit.edu	37	16	30899222	30899223	+	Frame_Shift_Ins	INS	-	-	G	rs150838242		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:30899222_30899223insG	ENST00000215115.4	-	6	1632_1633	c.617_618insC	c.(616-618)cctfs	p.P206fs	BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000570025.1_RNA|AC106782.20_ENST00000572471.1_RNA|MIR4519_ENST00000564901.1_RNA|MIR4519_ENST00000565573.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	206	Pro-rich.				apoptosis					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			TGCGCTTGAGTGGGGGGGCACC	0.619													7	84	---	---	---	---					
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070545	32070545	+	RNA	DEL	C	C	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:32070545delC	ENST00000566806.1	-	0	499																											GTGCCCACTTCCTGGTGCAGC	0.582													9	143	---	---	---	---					
SALL3	27164	broad.mit.edu	37	18	76753500	76753501	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr18:76753500_76753501insC	ENST00000536229.3	+	1	1819_1820	c.1110_1111insC	c.(1108-1113)ctccccfs	p.LP370fs	SALL3_ENST00000537592.2_Frame_Shift_Ins_p.LP503fs|SALL3_ENST00000575389.2_Frame_Shift_Ins_p.LP503fs			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	503					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)		GCATGTCGCTGCCCCCCGAGAA	0.673													3	6	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29595759	29595759	+	RNA	DEL	G	G	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:29595759delG	ENST00000432067.1	-	0	74																											ggtggctcttgcctgtcatcc	0.537													4	2	---	---	---	---					
SNX21	90203	broad.mit.edu	37	20	44469907	44469908	+	Frame_Shift_Ins	INS	-	-	C	rs11477383		TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:44469907_44469908insC	ENST00000372542.1	+	3	1362_1363	c.1050_1051insC	c.(1048-1053)ccccccfs	p.PP350fs	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000491381.1_Frame_Shift_Ins_p.PP359fs|SNX21_ENST00000342644.5_Intron			Q969T3	SNX21_HUMAN	sorting nexin family member 21	359					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CCCCCACACCACCCCCCAGTCT	0.614													10	130	---	---	---	---					
ITGB2	3689	broad.mit.edu	37	21	46306809	46306809	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr21:46306809delC	ENST00000397850.2	-	16	2541	c.2089delG	c.(2089-2091)cafs	p.A697fs	ITGB2_ENST00000397852.1_Frame_Shift_Del_p.A697fs|ITGB2_ENST00000302347.5_Frame_Shift_Del_p.A697fs|ITGB2_ENST00000397857.1_Frame_Shift_Del_p.A697fs|ITGB2_ENST00000355153.4_Frame_Shift_Del_p.A697fs|ITGB2_ENST00000397854.3_Frame_Shift_Del_p.A640fs			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	697					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TTGGGGCCTGCCACACACTCT	0.627													12	24	---	---	---	---					
RTDR1	27156	broad.mit.edu	37	22	23482595	23482595	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:23482595delG	ENST00000216036.4	-	2	209	c.13delC	c.(13-15)agfs	p.Q5fs	RTDR1_ENST00000406876.1_Frame_Shift_Del_p.Q5fs	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	5							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		AAGGAGTTCTGGGAATGGGCC	0.488													8	58	---	---	---	---					
SLC5A1	6523	broad.mit.edu	37	22	32439304	32439304	+	Frame_Shift_Del	DEL	G	G	-	rs148720069	byFrequency	TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:32439304delG	ENST00000266088.4	+	1	286	c.36delG	c.(34-36)gcfs	p.A12fs		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	12					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AGACCACCGCGGTCACCCGGC	0.597													24	53	---	---	---	---					
PIR	8544	broad.mit.edu	37	X	15474016	15474016	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:15474016delA	ENST00000380421.3	-	5	895	c.435delT	c.(433-435)gafs	p.D145fs	PIR_ENST00000380420.5_Frame_Shift_Del_p.D145fs|PIR_ENST00000476381.1_5'UTR	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	145					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					CTGTCACACCATCCTTACTGG	0.468													8	141	---	---	---	---					
OPHN1	4983	broad.mit.edu	37	X	67283757	67283757	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01W-0928-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbaad26c-c0a7-4159-bced-693fc457de02	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:67283757delG	ENST00000355520.5	-	21	2738	c.2097delC	c.(2095-2097)acfs	p.T699fs	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	699	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						AGGGGGTCTTGGTGGGCCCAG	0.617													8	3	---	---	---	---					
FAM71A	149647	broad.mit.edu	37	1	212799845	212799845	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr1:212799845delG	ENST00000294829.3	+	1	2057	c.1626delG	c.(1624-1626)gtfs	p.V542fs	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	542										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)		CAAAAGTAGTGGGCACACCAC	0.582													77	125	---	---	---	---					
REG1B	5968	broad.mit.edu	37	2	79314038	79314040	+	In_Frame_Del	DEL	TCT	TCT	-	rs139007123	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:79314038_79314040delTCT	ENST00000305089.3	-	3	161_163	c.81_83delAGA	c.(79-84)acg>ac	p.TE27del		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	27					cell proliferation	extracellular region	sugar binding	p.E28Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						ATTAGGCAGCTCTGTCTGGGACT	0.493													61	248	---	---	---	---					
RP11-13J8.1	0	broad.mit.edu	37	2	201967217	201967218	+	RNA	DEL	AG	AG	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr2:201967217_201967218delAG	ENST00000448256.1	+	0	627_628																											aaaaaaaaaaagaaTTTGTTCT	0.460													3	5	---	---	---	---					
KCNH8	131096	broad.mit.edu	37	3	19575320	19575331	+	In_Frame_Del	DEL	CTACGTTGACGC	CTACGTTGACGC	-	rs141789900	by1000genomes	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:19575320_19575331delCTACGTTGACGC	ENST00000328405.2	+	16	3319_3330	c.3053_3064delCTACGTTGACGC	c.(3052-3066)tct>t	p.STLTP1018del		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1018	Ser-rich.					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						CATTCAGATTCTACGTTGACGCCTCTGCAGTC	0.458													30	321	---	---	---	---					
CD96	10225	broad.mit.edu	37	3	111317000	111317000	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:111317000delC	ENST00000352690.4	+	6	1081	c.841delC	c.(841-843)ccfs	p.P281fs	CD96_ENST00000283285.5_Frame_Shift_Del_p.P297fs|CD96_ENST00000438817.2_Frame_Shift_Del_p.P281fs	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	297	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GAATGTATTTCCCAAAGCAAA	0.323									Opitz Trigonocephaly syndrome				109	117	---	---	---	---					
CLSTN2	64084	broad.mit.edu	37	3	140281113	140281113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr3:140281113delG	ENST00000458420.3	+	13	2365	c.2175delG	c.(2173-2175)ctfs	p.L725fs		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	725					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AACGACACCTGGATGCCACTA	0.527										HNSCC(16;0.037)			19	103	---	---	---	---					
FAM53C	51307	broad.mit.edu	37	5	137680780	137680781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr5:137680780_137680781insG	ENST00000239906.5	+	4	831_832	c.403_404insG	c.(403-405)gccfs	p.A135fs	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Frame_Shift_Ins_p.A135fs	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	135										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGTGTGGCGGCCCGCCCCC	0.683													8	155	---	---	---	---					
LOC646762	646762	broad.mit.edu	37	7	29720482	29720483	+	RNA	INS	-	-	G	rs70980562		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:29720482_29720483insG	ENST00000426767.1	-	0	366					NR_024278.1																						CTCTCAGATCAGTGATGCCCTG	0.485													11	33	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481923	142481925	+	RNA	DEL	CAA	CAA	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr7:142481923_142481925delCAA	ENST00000603901.1	+	0	591					NR_001296.3																						GTGATTAGACCAACCCTTCCCAT	0.537													7	52	---	---	---	---					
LOC642943	642943	broad.mit.edu	37	9	95647320	95647320	+	RNA	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:95647320delG	ENST00000446878.1	+	0	599				ANKRD19P_ENST00000473204.1_RNA																							TAGCTTCCCCGGATCCTTGAA	0.592													65	238	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139396481	139396482	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr9:139396481_139396482insC	ENST00000277541.6	-	29	5518_5519	c.5443_5444insG	c.(5443-5445)cgafs	p.R1815fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1815					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGGTCCTCGTCCCCCCACTCA	0.673			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			70	69	---	---	---	---					
KCNA6	3742	broad.mit.edu	37	12	4920328	4920328	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr12:4920328delG	ENST00000433855.1	+	1	1987	c.1121delG	c.(1120-1122)agfs	p.R374fs	KCNA6_ENST00000280684.3_Frame_Shift_Del_p.R374fs	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	374						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GCCTCCATGAGGGAGCTGGGG	0.597										HNSCC(72;0.22)			16	48	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													4	7	---	---	---	---					
EEF1DP3	196549	broad.mit.edu	37	13	32527564	32527565	+	RNA	DEL	AA	AA	-	rs3038111		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr13:32527564_32527565delAA	ENST00000428783.1	+	0	1264_1265																											TGAGACCGGCaaaaaaaaaaaa	0.391													10	12	---	---	---	---					
GEMIN2	8487	broad.mit.edu	37	14	39601187	39601188	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:39601187_39601188insT	ENST00000308317.6	+	8	742_743	c.659_660insT	c.(658-660)gtgfs	p.V220fs	GEMIN2_ENST00000396249.2_Frame_Shift_Ins_p.V220fs|GEMIN2_ENST00000250379.8_Frame_Shift_Ins_p.V205fs	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	220					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding										GCTTTATTGGCTTGTCTTGAAA	0.351													7	262	---	---	---	---					
GNG2	54331	broad.mit.edu	37	14	52417413	52417413	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr14:52417413delC	ENST00000335281.4	+	2	423	c.17delC	c.(16-18)acfs	p.T6fs	GNG2_ENST00000556752.1_Frame_Shift_Del_p.T6fs|GNG2_ENST00000556766.1_Frame_Shift_Del_p.T6fs|GNG2_ENST00000554875.1_Frame_Shift_Del_p.T35fs|GNG2_ENST00000554736.1_Frame_Shift_Del_p.T6fs|GNG2_ENST00000555472.1_Frame_Shift_Del_p.T6fs|GNG2_ENST00000553432.1_Frame_Shift_Del_p.T37fs|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000557376.1_Frame_Shift_Del_p.T45fs	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	6					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	AGCAACAACACCGCCAGCATA	0.453													35	92	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25475908	25475908	+	RNA	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr15:25475908delG	ENST00000453082.2	+	0	1503					NR_003343.1																						AGCCCTTCCTGGCGCCCTGGA	0.597													16	108	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													18	395	---	---	---	---					
NPIPB5	100132247	broad.mit.edu	37	16	22546050	22546051	+	In_Frame_Ins	INS	-	-	ATA			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:22546050_22546051insATA	ENST00000424340.1	+	7	2025_2026	c.1746_1747insATA	c.(1744-1749)attctc>atATAtctc	p.582_583IL>IYL	NPIPB5_ENST00000517539.1_In_Frame_Ins_p.582_583IL>IYL|NPIPB5_ENST00000415654.1_3'UTR	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		CTCAGCGGATGATCTCAAGACA	0.550													8	68	---	---	---	---					
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)ggg>g	p.DG57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532													11	817	---	---	---	---					
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070545	32070545	+	RNA	DEL	C	C	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr16:32070545delC	ENST00000566806.1	-	0	499																											GTGCCCACTTCCTGGTGCAGC	0.582													10	101	---	---	---	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cgg>cg	p.RK211del	ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	211					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													8	193	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)ggc>g	p.EG711del	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557													15	235	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29595710	29595710	+	RNA	DEL	G	G	-	rs76738718	by1000genomes	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr20:29595710delG	ENST00000432067.1	-	0	74																											AAGACCAGCCGAAACACACAA	0.507													2	4	---	---	---	---					
ITGB2	3689	broad.mit.edu	37	21	46306809	46306809	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr21:46306809delC	ENST00000397850.2	-	16	2541	c.2089delG	c.(2089-2091)cafs	p.A697fs	ITGB2_ENST00000302347.5_Frame_Shift_Del_p.A697fs|ITGB2_ENST00000397857.1_Frame_Shift_Del_p.A697fs|ITGB2_ENST00000397852.1_Frame_Shift_Del_p.A697fs|ITGB2_ENST00000355153.4_Frame_Shift_Del_p.A697fs|ITGB2_ENST00000397854.3_Frame_Shift_Del_p.A640fs			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	697					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TTGGGGCCTGCCACACACTCT	0.627													23	26	---	---	---	---					
RTDR1	27156	broad.mit.edu	37	22	23482595	23482595	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:23482595delG	ENST00000216036.4	-	2	209	c.13delC	c.(13-15)agfs	p.Q5fs	RTDR1_ENST00000406876.1_Frame_Shift_Del_p.Q5fs	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	5							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		AAGGAGTTCTGGGAATGGGCC	0.488													7	77	---	---	---	---					
SLC5A1	6523	broad.mit.edu	37	22	32439304	32439304	+	Frame_Shift_Del	DEL	G	G	-	rs148720069	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chr22:32439304delG	ENST00000266088.4	+	1	286	c.36delG	c.(34-36)gcfs	p.A12fs		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	12					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AGACCACCGCGGTCACCCGGC	0.597													20	50	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													8	65	---	---	---	---					
OPHN1	4983	broad.mit.edu	37	X	67283757	67283757	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	f8cd79f0-abae-49d8-b1fe-0153171e5ee0	g.chrX:67283757delG	ENST00000355520.5	-	21	2738	c.2097delC	c.(2095-2097)acfs	p.T699fs	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	699	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						AGGGGGTCTTGGTGGGCCCAG	0.617													9	11	---	---	---	---					
