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 ENST00000534750.1 + 4 2037 c.1832A>G c.(1831-1833)gAg>gGg p.E611G NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 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 ENST00000310085.4 - 1 1002 c.940C>T c.(940-942)Cgg>Tgg p.R314W RP11-367J11.2_ENST00000500031.1_RNA NM_153376.2 NP_699207.1 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 314 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 SYNM 23336 broad.mit.edu 37 15 99673013 99673013 + Missense_Mutation SNP G G 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.chr15:99673013G>T ENST00000336292.6 + 5 4565 c.4445G>T c.(4444-4446)gGt>gTt p.G1482V SYNM_ENST00000560674.1_Missense_Mutation_p.G885V|SYNM_ENST00000328642.7_Missense_Mutation_p.G1170V|SYNM_ENST00000561323.1_3'UTR NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 1483 Interaction with DMD and UTRN.|Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 GGAGCTCTCGGTGTGTCTGAC 0.572000 5 247 0.0381472 0.0381472 1 1 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 ENST00000261839.7 - 25 3365 c.3204C>G c.(3202-3204)gtC>gtG p.V1068V NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1068 myosin complex actin binding|ATP 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 ENST00000369367.3 - 11 1143 c.910A>T c.(910-912)Aca>Tca p.T304S SCAF11_ENST00000465950.1_5'UTR|SCAF11_ENST00000549162.1_Missense_Mutation_p.T112S|SCAF11_ENST00000419565.2_Missense_Mutation_p.T304S NM_004719.2 NP_004710.2 Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 304 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 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site 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.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 3 53 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 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.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 39 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 ENST00000308127.4 + 11 1363 c.1185G>A c.(1183-1185)acG>acA p.T395T SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Silent_p.T395T NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 395 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 ENST00000440995.2 + 16 2282 c.2282C>T c.(2281-2283)gCg>gTg p.A761V SPEF2_ENST00000356031.3_Missense_Mutation_p.A766V|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.A761V Q9C093 SPEF2_HUMAN sperm flagellar 2 766 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 SPZ1 84654 broad.mit.edu 37 5 79616461 79616461 + Missense_Mutation 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.chr5:79616461G>C ENST00000296739.4 + 1 672 c.427G>C c.(427-429)Gag>Cag p.E143Q NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) AAAGAAACAGGAGATGATATT 0.358000 3 92 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 ENST00000373381.4 - 24 3943 c.3767C>T c.(3766-3768)aCc>aTc p.T1256I CSMD2_ENST00000373380.1_Missense_Mutation_p.T129I|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 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 RP11-14N7.2 0 broad.mit.edu 37 1 148933289 148933289 + RNA SNP A A G rs9729175 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.chr1:148933289A>G ENST00000539543.1 + 0 176 NR_027355.1 TGCTGCCCGCAGGATATTGTG 0.562000 4 16 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 ENST00000389048.3 - 12 2983 c.2077C>T c.(2077-2079)Ccc>Tcc p.P693S ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 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 ENST00000413689.1 - 28 6125 c.5932G>C c.(5932-5934)Gac>Cac p.D1978H SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1978H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 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 ENST00000360614.3 - 10 1696 c.1539C>T c.(1537-1539)tcC>tcT p.S513S LONP1_ENST00000593119.1_Silent_p.S449S|LONP1_ENST00000590729.1_Silent_p.S383S|LONP1_ENST00000540670.2_Silent_p.S317S|LONP1_ENST00000585374.1_Silent_p.S399S NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 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 ENST00000481752.1 + 2 246 c.82A>G c.(82-84)Aga>Gga p.R28G NCK1_ENST00000288986.2_Missense_Mutation_p.R28G P16333 NCK1_HUMAN NCK adaptor protein 1 28 SH3 1. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway 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 APOBEC3D 140564 broad.mit.edu 37 22 39421296 39421296 + 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.chr22:39421296G>A ENST00000216099.7 + 3 839 c.432G>A c.(430-432)cgG>cgA p.R144R APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.R144R NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D 144 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) GAGATTGGCGGTGGGTGCTCC 0.587000 3 74 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 ENST00000260364.5 + 7 1204 c.903C>G c.(901-903)taC>taG p.Y301* NOX5_ENST00000455873.3_Nonsense_Mutation_p.Y284*|NOX5_ENST00000388866.3_Nonsense_Mutation_p.Y319*|NOX5_ENST00000530406.2_Nonsense_Mutation_p.Y291*|NOX5_ENST00000448182.3_Nonsense_Mutation_p.Y273* Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 319 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 calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 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 ENST00000263083.6 + 11 1231 c.1186G>A c.(1186-1188)Gtg>Atg p.V396M DPH1_ENST00000570477.1_Missense_Mutation_p.V316M NM_001383.3 NP_001374.3 Q9BZG8 DPH1_HUMAN diphthamide biosynthesis 1 396 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 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 ENST00000314616.6 + 30 4435 c.4152G>A c.(4150-4152)cgG>cgA p.R1384R SUPT6H_ENST00000347486.4_Silent_p.R1384R NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1384 SH2. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|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 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 ENST00000297784.5 + 23 2798 c.2258C>T c.(2257-2259)gCa>gTa p.A753V TMC1_ENST00000340019.3_Missense_Mutation_p.A753V|TMC1_ENST00000396237.3_Missense_Mutation_p.A753V|TMC1_ENST00000486417.1_3'UTR NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 753 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 UBB 7314 broad.mit.edu 37 17 16285491 16285491 + Silent SNP C C T rs16962973 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.chr17:16285491C>T ENST00000302182.3 + 2 662 c.270C>T c.(268-270)acC>acT p.T90T UBB_ENST00000395837.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 90 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AGACCATCACCCTGGAAGTGG 0.552000 3 109 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 ENST00000542188.1 - 20 2984 c.2671C>T c.(2671-2673)Cgg>Tgg p.R891W RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R852W|TRPM1_ENST00000256552.6_Missense_Mutation_p.R874W|RP11-348B17.1_ENST00000561299.1_RNA NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 852 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 ENST00000304506.3 + 4 386 c.372G>A c.(370-372)gaG>gaA p.E124E IL13_ENST00000468334.1_3'UTR|AC004041.2_ENST00000435042.1_RNA NM_002188.2 NP_002179.2 P35225 IL13_HUMAN interleukin 13 124 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 ENST00000376087.4 - 20 2202 c.2037G>A c.(2035-2037)caG>caA p.Q679Q ANKRD26_ENST00000436985.2_Silent_p.Q695Q|ANKRD26_ENST00000376070.3_Silent_p.Q236Q NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 678 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 EPRS 2058 broad.mit.edu 37 1 220153563 220153567 + Frame_Shift_Del DEL AAGTC AAGTC - 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.chr1:220153563_220153567delAAGTC ENST00000366923.3 - 26 3840_3844 c.3571_3575delGACTT c.(3571-3576)afs p.DL1191fs NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 1191 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding p.D1191H(1) breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) CTGAGCATATAAGTCAAGTATCTGC 0.322 11 55 --- --- --- --- AC019118.2 0 broad.mit.edu 37 2 2910879 2910880 + RNA INS - - C rs11453385 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.chr2:2910879_2910880insC ENST00000457478.1 - 0 594 acagccacccaccctacacctc 0.698 2 4 --- --- --- --- FAM86DP 0 broad.mit.edu 37 3 75471435 75471435 + RNA DEL C 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.chr3:75471435delC ENST00000459803.1 - 0 1706 NR_024241.1 TGGTGAATGACCCGGGAAGCT 0.552 4 8 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72159820 72159821 + RNA INS - - 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.chr7:72159820_72159821insT ENST00000438125.1 - 0 984 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity TTCCTTAGTAATTTTTTTTTTT 0.386 7 48 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100373941 100373948 + RNA DEL AGGGAGGG AGGGAGGG - rs3991185 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.chr7:100373941_100373948delAGGGAGGG ENST00000542585.1 + 0 6337 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) actTGAaggaagggagggagggagggag 0.553 2 4 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1824298 1824300 + In_Frame_Del DEL TGC TGC - 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.chr16:1824298_1824300delTGC ENST00000307394.7 + 3 422_424 c.422_424delTGC c.(421-426)ttg>t p.LL143del EME2_ENST00000568449.1_In_Frame_Del_p.LL143del A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 143 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 GAACAGGAATTGCTGCTGCTGCT 0.655 Direct reversal of damage;Homologous recombination 7 196 --- --- --- ---