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 NLRP6 171389 broad.mit.edu 37 11 281566 281566 + Missense_Mutation SNP A A G TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr11:281566A>G uc010qvs.2 + 3 1832 c.1832A>G c.(1831-1833)gAg>gGg p.E611G NLRP6_uc010qvt.2_Missense_Mutation_p.E611G NM_138329 NP_612202 P59044 NALP6_HUMAN Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA. 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GAGGAGGAGGAGGGAGAGGAG 0.662000 5 198 0 0 1 0 0 CCDC96 257236 broad.mit.edu 37 4 7043726 7043726 + Missense_Mutation SNP G G A TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr4:7043726G>A uc003gjv.2 - 0 1003 c.940C>T c.(940-942)Cgg>Tgg p.R314W LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank NM_153376 NP_699207 Q2M329 CCD96_HUMAN Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA. 314 endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 TGGCACTGCCGCTTCAACTGG 0.617000 4 229 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27024043 27024043 + Silent SNP G G A TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr17:27024043G>A uc010crt.3 + 30 4344 c.4152G>A c.(4150-4152)cgG>cgA p.R1384R SUPT6H_uc002hby.3_Silent_p.R1384R NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA. 1384 SH2. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TGGATGTGCGGGAGGAGGGCA 0.572000 3 118 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52521333 52521333 + Silent SNP G G C TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr15:52521333G>C uc010bff.3 - 24 3366 c.3204C>G c.(3202-3204)gtC>gtG p.V1068V MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN Homo sapiens myosin VC (MYO5C), mRNA. 1068 myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) GCTCTACCTTGACCTGCTTGC 0.532000 80 162 0 0 1 0 0 SCAF11 9169 broad.mit.edu 37 12 46322574 46322574 + Missense_Mutation SNP T T A TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr12:46322574T>A uc001rox.3 - 10 1197 c.910A>T c.(910-912)Aca>Tca p.T304S SCAF11_uc001row.3_5'UTR|SCAF11_uc001roy.1_Missense_Mutation_p.T378S NM_004719 NP_004710 Q99590 SCAFB_HUMAN Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA. 304 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GTATTTGATGTACCAGAAGTT 0.378000 8 135 0 0 1 0 0 SSH3 54961 broad.mit.edu 37 11 67076991 67076991 + Silent SNP G G A rs149398055 by1000genomes TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr11:67076991G>A uc001okj.3 + 10 1363 c.1185G>A c.(1183-1185)acG>acA p.T395T SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Silent_p.T249T NM_017857 NP_060327 Q8TE77 SSH3_HUMAN Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA. 395 Tyrosine-protein phosphatase. regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GGAAGGAGACGCACCGCTTCA 0.637000 3 55 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35700753 35700753 + Missense_Mutation SNP C C T TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr5:35700753C>T uc003jjo.3 + 15 2408 c.2297C>T c.(2296-2298)gCg>gTg p.A766V SPEF2_uc003jjq.4_Missense_Mutation_p.A761V|SPEF2_uc003jjp.1_Missense_Mutation_p.A252V NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 766 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATTGATCCTGCGACTTCCAAA 0.383000 3 68 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34164511 34164511 + Missense_Mutation SNP G G A TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr1:34164511G>A uc001bxm.1 - 23 3944 c.3767C>T c.(3766-3768)aCc>aTc p.T1256I CSMD2_uc001bxn.1_Missense_Mutation_p.T1216I|CSMD2_uc001bxo.1_Missense_Mutation_p.T129I NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1216 Sushi 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AAACTTGGGGGTTCCTGGGTC 0.517000 3 74 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29474098 29474098 + Missense_Mutation SNP G G A TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr2:29474098G>A uc002rmy.3 - 11 3029 c.2077C>T c.(2077-2079)Ccc>Tcc p.P693S NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 693 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity 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) GGGCCATGGGGCCCGCTGGCC 0.642000 """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 3 28 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38591931 38591931 + Missense_Mutation SNP C C G TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr3:38591931C>G uc021wvo.1 - 26 5984 c.5932G>C c.(5932-5934)Gac>Cac p.D1978H SCN5A_uc021wvk.1_Missense_Mutation_p.D1945H|SCN5A_uc021wvl.1_Missense_Mutation_p.D1924H|SCN5A_uc021wvm.1_Missense_Mutation_p.D1960H|SCN5A_uc021wvn.1_Missense_Mutation_p.D1977H|SCN5A_uc021wvp.1_Missense_Mutation_p.D1978H|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1790H|SCN5A_uc021wvi.1_Missense_Mutation_p.D1844H NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1978 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GTGACACTGTCATAGGAGGGT 0.602000 3 68 0 0 1 0 0 LONP1 9361 broad.mit.edu 37 19 5699184 5699184 + Silent SNP G G A TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr19:5699184G>A uc002mcx.3 - 9 1572 c.1539C>T c.(1537-1539)tcC>tcT p.S513S LONP1_uc002mcy.3_Silent_p.S449S|LONP1_uc010duh.3_Silent_p.S254S|LONP1_uc010dui.3_Silent_p.S497S|LONP1_uc002mcz.3_Silent_p.S317S NM_004793 NP_004784 P36776 LONM_HUMAN Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA. 513 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGCCCTGGGTGGAGCCGCGGA 0.647000 3 115 0 0 1 0 0 NCK1 4690 broad.mit.edu 37 3 136646925 136646925 + Missense_Mutation SNP A A G TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr3:136646925A>G uc003erh.3 + 1 212 c.82A>G c.(82-84)Aga>Gga p.R28G NCK1_uc011bme.2_5'Flank NM_006153 NP_006144 P16333 NCK1_HUMAN Homo sapiens NCK adaptor protein 1 (NCK1), transcript variant 1, mRNA. 28 SH3 1. T cell activation|T cell receptor signaling pathway|axon guidance|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of translation|signal complex assembly cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 GAAGAATGAGAGATTATGGCT 0.418000 36 52 0 0 1 0 0 NOX5 79400 broad.mit.edu 37 15 69327795 69327795 + Nonsense_Mutation SNP C C G TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr15:69327795C>G uc002ars.2 + 5 998 c.957C>G c.(955-957)taC>taG p.Y319* MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.Y273*|NOX5_uc002arp.2_Nonsense_Mutation_p.Y301*|NOX5_uc010bid.2_Nonsense_Mutation_p.Y284*|NOX5_uc010bie.2_Nonsense_Mutation_p.Y119*|NOX5_uc002arr.2_Nonsense_Mutation_p.Y291*|NOX5_uc010bif.2_Non-coding_Transcript NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 319 Ferric oxidoreductase. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 TTATGGGCTACGTGGTAGTGG 0.607000 3 90 0 0 1 0 0 DPH1 1801 broad.mit.edu 37 17 1944859 1944859 + Missense_Mutation SNP G G A TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr17:1944859G>A uc010vqs.2 + 9 1222 c.1216G>A c.(1216-1218)Gtg>Atg p.V406M DPH1_uc002fts.3_Missense_Mutation_p.V396M|DPH1_uc002ftt.3_Missense_Mutation_p.V380M|DPH1_uc010cjx.3_Missense_Mutation_p.V256M|DPH1_uc002ftv.3_Missense_Mutation_p.V152M|DPH1_uc002ftw.3_Missense_Mutation_p.V124M|OVCA2_uc002ftx.3_5'Flank NM_001383 NP_001374 Q9BZG8 DPH1_HUMAN Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA. 396 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 GCCCTGGACGGTGAACCACGG 0.731000 3 57 0 0 1 0 0 TMC1 117531 broad.mit.edu 37 9 75445596 75445596 + Missense_Mutation SNP C C T TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr9:75445596C>T uc004aiz.1 + 22 2798 c.2258C>T c.(2257-2259)gCa>gTa p.A753V TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.A607V|TMC1_uc010mpa.1_Intron NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN Homo sapiens transmembrane channel-like 1 (TMC1), mRNA. 753 Poly-Ala. sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 GCTGCACGAGCAGGTTGGAGA 0.323000 8 20 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31327829 31327829 + Missense_Mutation SNP G G A TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr15:31327829G>A uc021sia.1 - 19 2985 c.2671C>T c.(2671-2673)Cgg>Tgg p.R891W TRPM1_uc010azy.3_Missense_Mutation_p.R759W|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R874W|TRPM1_uc001zfm.3_Missense_Mutation_p.R852W NM_001252020 NP_001238949 Q7Z4N2 TRPM1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA. 852 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CCATCCATCCGCACCAGGATG 0.517000 4 116 0 0 1 0 0 IL13 3596 broad.mit.edu 37 5 131995905 131995905 + Silent SNP G G A TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr5:131995905G>A uc003kxj.1 + 3 386 c.372G>A c.(370-372)gaG>gaA p.E124E NM_002188 NP_002179 P35225 IL13_HUMAN Homo sapiens interleukin 13 (IL13), mRNA. 124 cellular component movement|immune response|inflammatory response|signal transduction extracellular space|soluble fraction cytokine activity large_intestine(1)|lung(1)|ovary(1)|skin(3) 6 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCAAAATCGAGGTGGCCCAGT 0.478000 3 56 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27332479 27332479 + Silent SNP C C T TCGA-FK-A3S3-01A-11D-A22D-08 TCGA-FK-A3S3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15abb2a3-10a2-4e04-8eb9-6eadbd976af0 1fe18f38-fe1c-4684-b3a5-2985d577536e g.chr10:27332479C>T uc009xku.1 - 19 2209 c.2037G>A c.(2035-2037)caG>caA p.Q679Q ANKRD26_uc001itg.2_Silent_p.Q365Q|ANKRD26_uc001ith.2_Silent_p.Q678Q NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA. 678 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 CATCCATAGACTGTATTTGGT 0.348000 13 22 0 0 1 0 0