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 EFTUD2 9343 broad.mit.edu 37 17 42941049 42941049 + Missense_Mutation SNP C C T TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 05324ee2-6eb5-4fa0-9c09-b78c3b257c10 g.chr17:42941049C>T uc002ihn.2 - 14 1648 c.1387G>A c.(1387-1389)Gag>Aag p.E463K EFTUD2_uc010wje.1_Missense_Mutation_p.E428K|EFTUD2_uc010wjf.1_Missense_Mutation_p.E453K NM_004247 NP_001136077 Q15029 U5S1_HUMAN Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA. 463 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) CTCATAGCCTCGCCGAGGTCG 0.552000 5 57 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116436137 116436137 + Missense_Mutation SNP G G C TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 05324ee2-6eb5-4fa0-9c09-b78c3b257c10 g.chr7:116436137G>C uc010lkh.3 + 20 4373 c.4186G>C c.(4186-4188)Gag>Cag p.E1396Q MET_uc003vij.3_Missense_Mutation_p.E1378Q|MET_uc011knj.2_Missense_Mutation_p.E948Q NM_001127500 NP_001120972 P08581 MET_HUMAN Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 1, mRNA. 1378 axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CGCTGATGATGAGGTGGACAC 0.463000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 11 133 0 0 1 0 0 BTBD2 55643 broad.mit.edu 37 19 1987243 1987243 + Silent SNP G G A TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 05324ee2-6eb5-4fa0-9c09-b78c3b257c10 g.chr19:1987243G>A uc002lup.1 - 6 1191 c.1191C>T c.(1189-1191)gtC>gtT p.V397V BTBD2_uc002luo.1_Silent_p.V76V NM_017797 NP_060267 Q9BX70 BTBD2_HUMAN Homo sapiens BTB (POZ) domain containing 2 (BTBD2), mRNA. 397 cytoplasmic mRNA processing body protein binding endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGCGCTTGTTGACTGAGAACC 0.617000 4 28 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158618337 158618337 + Missense_Mutation SNP C C T TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 05324ee2-6eb5-4fa0-9c09-b78c3b257c10 g.chr1:158618337C>T uc001fst.1 - 25 3875 c.3676G>A c.(3676-3678)Gag>Aag p.E1226K NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1226 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCAAAGCCCTCATGCCGTCGC 0.498000 8 75 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042337 75042337 + Silent SNP G G A TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 05324ee2-6eb5-4fa0-9c09-b78c3b257c10 g.chr15:75042337G>A uc002ayr.1 + 1 322 c.258G>A c.(256-258)ctG>ctA p.L86L NM_000761 NP_000752 P05177 CP1A2_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA. 86 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CGCCCGTGCTGGTGCTGAGCC 0.652000 5 55 0 0 1 0 0 CAPN9 10753 broad.mit.edu 37 1 230898481 230898481 + Missense_Mutation SNP C C T TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 05324ee2-6eb5-4fa0-9c09-b78c3b257c10 g.chr1:230898481C>T uc001htz.1 + 3 598 c.485C>T c.(484-486)tCt>tTt p.S162F CAPN9_uc009xfg.1_Missense_Mutation_p.S99F|CAPN9_uc001hua.1_Missense_Mutation_p.S162F NM_006615 NP_006606 O14815 CAN9_HUMAN Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA. 162 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) TTCCTCCACTCTGCCGACCAC 0.587000 4 29 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 05324ee2-6eb5-4fa0-9c09-b78c3b257c10 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 24 41 0 0 1 0 0 ULBP1 80329 broad.mit.edu 37 6 150290338 150290338 + Missense_Mutation SNP G G A TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 05324ee2-6eb5-4fa0-9c09-b78c3b257c10 g.chr6:150290338G>A uc003qnp.3 + 2 510 c.467G>A c.(466-468)aGa>aAa p.R156K NM_025218 NP_079494 Q9BZM6 N2DL1_HUMAN Homo sapiens UL16 binding protein 1 (ULBP1), mRNA. 156 MHC class I alpha-2 like. antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response MHC class I protein complex|anchored to membrane|endoplasmic reticulum MHC class I receptor activity large_intestine(3)|lung(5)|pancreas(1)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.14e-11) TCAAACAACAGAAAGTGGACA 0.493000 5 65 0 0 1 0 0 SRBD1 55133 broad.mit.edu 37 2 45801777 45801777 + Silent SNP G G A TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 05324ee2-6eb5-4fa0-9c09-b78c3b257c10 g.chr2:45801777G>A uc002rus.3 - 7 1234 c.1158C>T c.(1156-1158)ttC>ttT p.F386F NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA. 386 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process RNA binding|hydrolase activity, acting on ester bonds 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) AGTTCCGAATGAAGTCAAGCG 0.388000 4 60 0 0 1 0 0 LPP 4026 broad.mit.edu 37 3 188426115 188426115 + Missense_Mutation SNP G G C TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 05324ee2-6eb5-4fa0-9c09-b78c3b257c10 g.chr3:188426115G>C uc003frs.2 + 6 1420 c.1174G>C c.(1174-1176)Gag>Cag p.E392Q LPP_uc011bsg.2_Missense_Mutation_p.E245Q|LPP_uc011bsi.2_Missense_Mutation_p.E392Q|LPP_uc003frt.3_Missense_Mutation_p.E392Q|LPP_uc011bsj.2_Missense_Mutation_p.E229Q NM_005578 NP_005569 Q93052 LPP_HUMAN Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA. 392 cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding 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) CCCAGAGGATGAGCTTGAGCA 0.512000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 8 67 0 0 1 0 0 CHRNA10 57053 broad.mit.edu 37 11 3687763 3687763 + Silent SNP G G A TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 05324ee2-6eb5-4fa0-9c09-b78c3b257c10 g.chr11:3687763G>A uc001lyf.3 - 4 999 c.927C>T c.(925-927)gtC>gtT p.V309V CHRNA10_uc010qxt.2_Silent_p.V103V|CHRNA10_uc010qxu.2_Silent_p.V103V NM_020402 NP_065135 Q9GZZ6 ACH10_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA. 309 elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding breast(1)|endometrium(2)|lung(3)|ovary(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) TTGAGAATGTGACCATGGTCA 0.537000 3 28 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56344739 56344739 + Silent SNP G G A TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 05324ee2-6eb5-4fa0-9c09-b78c3b257c10 g.chr11:56344739G>A uc001niz.1 - 0 459 c.459C>T c.(457-459)ttC>ttT p.F153F OR8U8_uc001nit.2_Intron NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA. 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 GCCCATTAAGGAAGCCATACA 0.458000 4 70 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61438933 61438933 + Silent SNP G G A TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 05324ee2-6eb5-4fa0-9c09-b78c3b257c10 g.chr2:61438933G>A uc002sbe.3 - 68 8836 c.8814C>T c.(8812-8814)ggC>ggT p.G2938G NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA. 2938 Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) AGCAGGAGCGGCCATCTAAGC 0.343000 3 21 0 0 1 0 0 GLE1 2733 broad.mit.edu 37 9 131296128 131296128 + Missense_Mutation SNP G G C TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 05324ee2-6eb5-4fa0-9c09-b78c3b257c10 g.chr9:131296128G>C uc004bvj.3 + 10 1658 c.1544G>C c.(1543-1545)aGa>aCa p.R515T GLE1_uc004bvi.3_Missense_Mutation_p.R515T|GLE1_uc010myd.3_Missense_Mutation_p.R261T NM_001003722 NP_001003722 Q53GS7 GLE1_HUMAN Homo sapiens GLE1 RNA export mediator homolog (yeast) (GLE1), transcript variant 1, mRNA. 515 poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear pore protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 16 CTCCACCCCAGAGTGGGGGAC 0.507000 7 90 0 0 1 0 0 EFTUD2 9343 broad.mit.edu 37 17 42941049 42941049 + Missense_Mutation SNP C C T TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 85f7f6d9-9498-409c-99fc-d0853b075689 g.chr17:42941049C>T uc002ihn.2 - 14 1648 c.1387G>A c.(1387-1389)Gag>Aag p.E463K EFTUD2_uc010wje.1_Missense_Mutation_p.E428K|EFTUD2_uc010wjf.1_Missense_Mutation_p.E453K NM_004247 NP_001136077 Q15029 U5S1_HUMAN Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA. 463 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) CTCATAGCCTCGCCGAGGTCG 0.552000 5 57 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116436137 116436137 + Missense_Mutation SNP G G C TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 85f7f6d9-9498-409c-99fc-d0853b075689 g.chr7:116436137G>C uc010lkh.3 + 20 4373 c.4186G>C c.(4186-4188)Gag>Cag p.E1396Q MET_uc003vij.3_Missense_Mutation_p.E1378Q|MET_uc011knj.2_Missense_Mutation_p.E948Q NM_001127500 NP_001120972 P08581 MET_HUMAN Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 1, mRNA. 1378 axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CGCTGATGATGAGGTGGACAC 0.463000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 11 133 0 0 1 0 0 BTBD2 55643 broad.mit.edu 37 19 1987243 1987243 + Silent SNP G G A TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 85f7f6d9-9498-409c-99fc-d0853b075689 g.chr19:1987243G>A uc002lup.1 - 6 1191 c.1191C>T c.(1189-1191)gtC>gtT p.V397V BTBD2_uc002luo.1_Silent_p.V76V NM_017797 NP_060267 Q9BX70 BTBD2_HUMAN Homo sapiens BTB (POZ) domain containing 2 (BTBD2), mRNA. 397 cytoplasmic mRNA processing body protein binding endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGCGCTTGTTGACTGAGAACC 0.617000 4 28 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158618337 158618337 + Missense_Mutation SNP C C T TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 85f7f6d9-9498-409c-99fc-d0853b075689 g.chr1:158618337C>T uc001fst.1 - 25 3875 c.3676G>A c.(3676-3678)Gag>Aag p.E1226K NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1226 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCAAAGCCCTCATGCCGTCGC 0.498000 8 75 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042337 75042337 + Silent SNP G G A TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 85f7f6d9-9498-409c-99fc-d0853b075689 g.chr15:75042337G>A uc002ayr.1 + 1 322 c.258G>A c.(256-258)ctG>ctA p.L86L NM_000761 NP_000752 P05177 CP1A2_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA. 86 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CGCCCGTGCTGGTGCTGAGCC 0.652000 5 55 0 0 1 0 0 CAPN9 10753 broad.mit.edu 37 1 230898481 230898481 + Missense_Mutation SNP C C T TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 85f7f6d9-9498-409c-99fc-d0853b075689 g.chr1:230898481C>T uc001htz.1 + 3 598 c.485C>T c.(484-486)tCt>tTt p.S162F CAPN9_uc009xfg.1_Missense_Mutation_p.S99F|CAPN9_uc001hua.1_Missense_Mutation_p.S162F NM_006615 NP_006606 O14815 CAN9_HUMAN Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA. 162 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) TTCCTCCACTCTGCCGACCAC 0.587000 4 29 0 0 1 0 0 C9orf172 389813 broad.mit.edu 37 9 139740266 139740266 + Missense_Mutation SNP G G A TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 85f7f6d9-9498-409c-99fc-d0853b075689 g.chr9:139740266G>A uc011meh.2 + 0 1400 c.1400G>A c.(1399-1401)cGc>cAc p.R467H PHPT1_uc011mei.2_5'Flank|PHPT1_uc004cjq.4_5'Flank NM_001080482 NP_001073951 C9J069 CI172_HUMAN Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA. 467 endometrium(2)|large_intestine(1)|lung(6) 9 GGCCGCGGCCGCAGCTACGAG 0.746000 2 1 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 85f7f6d9-9498-409c-99fc-d0853b075689 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 24 41 0 0 1 0 0 ULBP1 80329 broad.mit.edu 37 6 150290338 150290338 + Missense_Mutation SNP G G A TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 85f7f6d9-9498-409c-99fc-d0853b075689 g.chr6:150290338G>A uc003qnp.3 + 2 510 c.467G>A c.(466-468)aGa>aAa p.R156K NM_025218 NP_079494 Q9BZM6 N2DL1_HUMAN Homo sapiens UL16 binding protein 1 (ULBP1), mRNA. 156 MHC class I alpha-2 like. antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response MHC class I protein complex|anchored to membrane|endoplasmic reticulum MHC class I receptor activity large_intestine(3)|lung(5)|pancreas(1)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.14e-11) TCAAACAACAGAAAGTGGACA 0.493000 5 65 0 0 1 0 0 SRBD1 55133 broad.mit.edu 37 2 45801777 45801777 + Silent SNP G G A TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 85f7f6d9-9498-409c-99fc-d0853b075689 g.chr2:45801777G>A uc002rus.3 - 7 1234 c.1158C>T c.(1156-1158)ttC>ttT p.F386F NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA. 386 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process RNA binding|hydrolase activity, acting on ester bonds 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) AGTTCCGAATGAAGTCAAGCG 0.388000 4 60 0 0 1 0 0 LPP 4026 broad.mit.edu 37 3 188426115 188426115 + Missense_Mutation SNP G G C TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 85f7f6d9-9498-409c-99fc-d0853b075689 g.chr3:188426115G>C uc003frs.2 + 6 1420 c.1174G>C c.(1174-1176)Gag>Cag p.E392Q LPP_uc011bsg.2_Missense_Mutation_p.E245Q|LPP_uc011bsi.2_Missense_Mutation_p.E392Q|LPP_uc003frt.3_Missense_Mutation_p.E392Q|LPP_uc011bsj.2_Missense_Mutation_p.E229Q NM_005578 NP_005569 Q93052 LPP_HUMAN Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA. 392 cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding 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) CCCAGAGGATGAGCTTGAGCA 0.512000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 8 67 0 0 1 0 0 CHRNA10 57053 broad.mit.edu 37 11 3687763 3687763 + Silent SNP G G A TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 85f7f6d9-9498-409c-99fc-d0853b075689 g.chr11:3687763G>A uc001lyf.3 - 4 999 c.927C>T c.(925-927)gtC>gtT p.V309V CHRNA10_uc010qxt.2_Silent_p.V103V|CHRNA10_uc010qxu.2_Silent_p.V103V NM_020402 NP_065135 Q9GZZ6 ACH10_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA. 309 elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding breast(1)|endometrium(2)|lung(3)|ovary(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) TTGAGAATGTGACCATGGTCA 0.537000 3 28 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56344739 56344739 + Silent SNP G G A TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 85f7f6d9-9498-409c-99fc-d0853b075689 g.chr11:56344739G>A uc001niz.1 - 0 459 c.459C>T c.(457-459)ttC>ttT p.F153F OR8U8_uc001nit.2_Intron NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA. 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 GCCCATTAAGGAAGCCATACA 0.458000 4 70 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61438933 61438933 + Silent SNP G G A TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 85f7f6d9-9498-409c-99fc-d0853b075689 g.chr2:61438933G>A uc002sbe.3 - 68 8836 c.8814C>T c.(8812-8814)ggC>ggT p.G2938G NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA. 2938 Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) AGCAGGAGCGGCCATCTAAGC 0.343000 3 21 0 0 1 0 0 GLE1 2733 broad.mit.edu 37 9 131296128 131296128 + Missense_Mutation SNP G G C TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 85f7f6d9-9498-409c-99fc-d0853b075689 g.chr9:131296128G>C uc004bvj.3 + 10 1658 c.1544G>C c.(1543-1545)aGa>aCa p.R515T GLE1_uc004bvi.3_Missense_Mutation_p.R515T|GLE1_uc010myd.3_Missense_Mutation_p.R261T NM_001003722 NP_001003722 Q53GS7 GLE1_HUMAN Homo sapiens GLE1 RNA export mediator homolog (yeast) (GLE1), transcript variant 1, mRNA. 515 poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear pore protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 16 CTCCACCCCAGAGTGGGGGAC 0.507000 7 90 0 0 1 0 0 PDF 64146 broad.mit.edu 37 16 69364026 69364028 + In_Frame_Del DEL GGG GGG - TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 05324ee2-6eb5-4fa0-9c09-b78c3b257c10 g.chr16:69364026_69364028delGGG uc002ewx.1 - 0 471_473 c.446_448delCCC c.(445-450)cccctg>ctg p.P149del COG8_uc002ewy.2_Intron NM_022341 NP_071736 Q9HBH1 DEFM_HUMAN Homo sapiens peptide deformylase (mitochondrial) (PDF), nuclear gene encoding mitochondrial protein, mRNA. 149 N-terminal protein amino acid modification|peptidyl-methionine modification|positive regulation of cell proliferation|translation mitochondrion iron ion binding|peptide deformylase activity p.F148F(1) NS(1)|prostate(1) 2 AACACGCGCAGGGGGAAGGGCTC 0.734 3 4 --- --- --- --- PDF 64146 broad.mit.edu 37 16 69364026 69364028 + In_Frame_Del DEL GGG GGG - TCGA-BJ-A45J-01A-11D-A23U-08 TCGA-BJ-A45J-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b17eaad-3496-4bdc-8eac-abe6cec00111 85f7f6d9-9498-409c-99fc-d0853b075689 g.chr16:69364026_69364028delGGG uc002ewx.1 - 0 471_473 c.446_448delCCC c.(445-450)cccctg>ctg p.P149del COG8_uc002ewy.2_Intron NM_022341 NP_071736 Q9HBH1 DEFM_HUMAN Homo sapiens peptide deformylase (mitochondrial) (PDF), nuclear gene encoding mitochondrial protein, mRNA. 149 N-terminal protein amino acid modification|peptidyl-methionine modification|positive regulation of cell proliferation|translation mitochondrion iron ion binding|peptide deformylase activity p.F148F(1) NS(1)|prostate(1) 2 AACACGCGCAGGGGGAAGGGCTC 0.734 3 4 --- --- --- ---