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 SPAG17 200162 broad.mit.edu 37 1 118565931 118565931 + Missense_Mutation SNP C C G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr1:118565931C>G uc001ehk.2 - 27 4133 c.4065G>C c.(4063-4065)aaG>aaC p.K1355N NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 1355 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TGTTACCTTTCTTTGTGTTGG 0.363000 23 25 0 0 1 0 0 ATP1B4 23439 broad.mit.edu 37 X 119500552 119500552 + Missense_Mutation SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chrX:119500552G>A uc004esr.3 + 1 320 c.236G>A c.(235-237)gGc>gAc p.G79D ATP1B4_uc004esq.3_Missense_Mutation_p.G79D|ATP1B4_uc011mtx.2_Intron|ATP1B4_uc011mty.2_Missense_Mutation_p.G79D NM_001142447 NP_001135919 Q9UN42 AT1B4_HUMAN Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA. 79 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity 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 CAGCCAACAGGCAATGCCTGG 0.527000 42 48 0 0 1 0 0 FAM13A 10144 broad.mit.edu 37 4 89702434 89702434 + Missense_Mutation SNP T T A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr4:89702434T>A uc003hse.1 - 10 1548 c.1340A>T c.(1339-1341)cAg>cTg p.Q447L FAM13A_uc003hsb.1_Missense_Mutation_p.Q121L|FAM13A_uc003hsd.1_Missense_Mutation_p.Q121L|FAM13A_uc003hsc.1_Missense_Mutation_p.Q107L|FAM13A_uc011cdq.1_Missense_Mutation_p.Q93L|FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsg.1_5'UTR|FAM13A_uc003hsh.1_Missense_Mutation_p.Q261L|FAM13A_uc010ikr.1_5'UTR NM_014883 NP_055698 O94988 FA13A_HUMAN Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA. 447 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 TTCGACTTCCTGAGTATTCAA 0.358000 38 78 0 0 1 0 0 DCAF13 25879 broad.mit.edu 37 8 104444914 104444914 + Missense_Mutation SNP A A G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr8:104444914A>G uc003yln.3 + 6 1463 c.1186A>G c.(1186-1188)Atc>Gtc p.I396V DCAF13_uc003ylm.1_Missense_Mutation_p.I129V NM_015420 NP_056235 Q9NV06 DCA13_HUMAN Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA. 244 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 AACAAATACAATCTGTTGGAA 0.323000 27 34 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51092971 51092971 + Silent SNP C C T TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr7:51092971C>T uc003tpr.4 - 11 3788 c.3603G>A c.(3601-3603)ctG>ctA p.L1201L COBL_uc003tps.3_Intron|COBL_uc011kcl.2_Intron|COBL_uc003tpp.4_Silent_p.L987L|COBL_uc003tpq.4_Intron|COBL_uc003tpo.4_Silent_p.L743L NM_015198 NP_056013 O75128 COBL_HUMAN Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA. 1201 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CTGGTGGGGACAGAAGACCAA 0.627000 25 48 0 0 1 0 0 ZNF507 22847 broad.mit.edu 37 19 32844893 32844893 + Missense_Mutation SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr19:32844893G>A uc002nte.3 + 2 1429 c.1157G>A c.(1156-1158)aGc>aAc p.S386N ZNF507_uc002ntc.2_Missense_Mutation_p.S386N|ZNF507_uc010xrn.1_Missense_Mutation_p.S386N|ZNF507_uc002ntd.3_Missense_Mutation_p.S386N NM_001136156 NP_055725 Q8TCN5 ZN507_HUMAN Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA. 386 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) AAAATCATCAGCAGCAGCCCC 0.458000 3 46 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72667128 72667128 + Silent SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr12:72667128G>A uc001sxa.3 + 0 600 c.570G>A c.(568-570)gaG>gaA p.E190E LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 190 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TGGCGGTGGAGAAAGTGCAGC 0.612000 4 105 0 0 1 0 0 OTUD6A 139562 broad.mit.edu 37 X 69283005 69283005 + Missense_Mutation SNP G G T TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chrX:69283005G>T uc004dxu.1 + 0 665 c.631G>T c.(631-633)Gtg>Ttg p.V211L NM_207320 NP_997203 Q7L8S5 OTU6A_HUMAN Homo sapiens OTU domain containing 6A (OTUD6A), mRNA. 211 OTU. p.V211M(2) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 CGACAACATCGTGCGCACCAC 0.612000 37 55 0 0 1 0 0 MARCH1 55016 broad.mit.edu 37 4 164506962 164506962 + Missense_Mutation SNP C C T TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr4:164506962C>T uc003iqs.2 - 5 544 c.362G>A c.(361-363)cGc>cAc p.R121H MARCH1_uc003iqr.2_Missense_Mutation_p.R104H NM_001166373 NP_001159845 Q8TCQ1 MARH1_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA. 121 antigen processing and presentation of peptide antigen via MHC class II|immune response Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CTCACAGCAGCGTGTATCTGA 0.527000 40 118 0 0 1 0 0 KIAA1522 57648 broad.mit.edu 37 1 33233411 33233411 + Missense_Mutation SNP A A G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr1:33233411A>G uc001bvu.1 + 1 303 c.259A>G c.(259-261)Aaa>Gaa p.K87E KIAA1522_uc010ohm.1_Missense_Mutation_p.K39E|KIAA1522_uc001bvv.2_Missense_Mutation_p.K28E|KIAA1522_uc010ohn.1_Missense_Mutation_p.K28E NM_020888 NP_065939 Q9P206 K1522_HUMAN Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA. 28 breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TGAGAATGACAAACATCTAAG 0.602000 6 167 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10249155 10249155 + Missense_Mutation SNP C C T TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr19:10249155C>T uc010xlc.2 - 34 4255 c.4075G>A c.(4075-4077)Gtg>Atg p.V1359M DNMT1_uc002mnf.3_Missense_Mutation_p.V267M|DNMT1_uc002mng.3_Missense_Mutation_p.V1343M|DNMT1_uc002mnh.3_Missense_Mutation_p.V1238M|DNMT1_uc010xld.2_Missense_Mutation_p.V1343M NM_001130823 NP_001124295 P26358 DNMT1_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 1, mRNA. 1343 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TCCACCACCACGCTCAGCTGG 0.642000 5 175 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109087511 109087511 + Missense_Mutation SNP A A T TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr2:109087511A>T uc002tec.3 + 5 1880 c.1726A>T c.(1726-1728)Agt>Tgt p.S576C GCC2_uc002ted.3_Missense_Mutation_p.S475C NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA. 576 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTTAGTCTCAGTCAAAGAGA 0.289000 14 15 0 0 1 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112705375 112705375 + Silent SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr9:112705375G>A uc004bei.2 + 6 1098 c.906G>A c.(904-906)ccG>ccA p.P302P PALM2-AKAP2_uc004beg.3_Silent_p.P270P|PALM2-AKAP2_uc004beh.4_Silent_p.P302P|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA. 558 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 CTGCAGGGCCGGAGGCAAACT 0.502000 3 58 0 0 1 0 0 AMBN 258 broad.mit.edu 37 4 71465351 71465351 + Missense_Mutation SNP T T A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr4:71465351T>A uc003hfl.3 + 4 383 c.282T>A c.(280-282)caT>caA p.H94Q NM_016519 NP_057603 Q9NP70 AMBN_HUMAN Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA. 94 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) CAAGAGAACATGAAACTCAAC 0.383000 5 79 0 0 1 0 0 AKT1 207 broad.mit.edu 37 14 105242100 105242100 + Silent SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr14:105242100G>A uc001ypk.3 - 4 878 c.324C>T c.(322-324)gaC>gaT p.D108D AKT1_uc001ypl.3_Silent_p.D108D|AKT1_uc010axa.3_Silent_p.D108D|AKT1_uc001ypm.3_Silent_p.D108D|AKT1_uc001ypn.3_Silent_p.D108D|AKT1_uc010tyk.2_Silent_p.D46D NM_005163 NP_005154 P31749 AKT1_HUMAN Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA. 108 PH. G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) TCTTGAGGCCGTCAGCCACAG 0.617000 1 Mis """breast, colorectal, ovarian, NSCLC""" 4 117 0 0 1 0 0 ZNF211 10520 broad.mit.edu 37 19 58153415 58153415 + Missense_Mutation SNP A A G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr19:58153415A>G uc002qpr.2 + 5 2056 c.1753A>G c.(1753-1755)Agt>Ggt p.S585G ZNF211_uc010yhb.1_Missense_Mutation_p.S525G|ZNF211_uc002qpp.2_Missense_Mutation_p.S534G|ZNF211_uc002qpq.2_Missense_Mutation_p.S521G|ZNF211_uc002qpt.2_Missense_Mutation_p.S533G|ZNF211_uc010yhc.1_Missense_Mutation_p.S533G|ZNF211_uc010yhe.1_Missense_Mutation_p.S512G|ZNF211_uc010yhd.1_Missense_Mutation_p.S460G NM_006385 NP_006376 Q13398 ZN211_HUMAN Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA. 521 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTTTAGCCAAAGTTCTAGCCT 0.438000 6 156 0 0 1 0 0 MID2 11043 broad.mit.edu 37 X 107167660 107167660 + Missense_Mutation SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chrX:107167660G>A uc004enl.3 + 7 2096 c.1523G>A c.(1522-1524)cGc>cAc p.R508H MID2_uc004enk.3_Missense_Mutation_p.R478H NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN Homo sapiens midline 2 (MID2), transcript variant 1, mRNA. 508 Fibronectin type-III. centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 AGCGGGACTCGCTACATCTTC 0.458000 6 112 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176636938 176636938 + Missense_Mutation SNP A A G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr5:176636938A>G uc003mfr.4 + 4 1676 c.1538A>G c.(1537-1539)aAg>aGg p.K513R NSD1_uc003mft.4_Missense_Mutation_p.K244R|NSD1_uc003mfs.1_Missense_Mutation_p.K410R|NSD1_uc011dfx.2_Missense_Mutation_p.K161R NM_022455 NP_071900 Q96L73 NSD1_HUMAN Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA. 513 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AGTGTGAAAAAGGGCCACATA 0.423000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 3 87 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27420862 27420862 + Missense_Mutation SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr10:27420862G>A uc001iti.3 - 8 1165 c.955C>T c.(955-957)Cgg>Tgg p.R319W YME1L1_uc001itj.3_Missense_Mutation_p.R262W|YME1L1_uc010qdl.2_Missense_Mutation_p.R229W NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 319 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity p.R319L(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 GTTGTTGTCCGGAAGCGGACT 0.368000 3 85 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533875 533875 + Missense_Mutation SNP G G T rs28933406 TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr11:533875G>T uc001lpv.3 - 2 369 c.181C>A c.(181-183)Cag>Aag p.Q61K HRAS_uc010qvw.2_Missense_Mutation_p.Q61K|HRAS_uc010qvx.2_Missense_Mutation_p.Q61K|HRAS_uc010qvy.2_Non-coding_Transcript NM_005343 NP_005334 P01112 RASH_HUMAN Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA. 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission Golgi membrane|cytosol|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(130)|p.Q61K(120)|p.Q61L(113)|p.Q61H(20)|p.Q61P(3)|p.Q61E(2)|p.Q61?(1)|p.Q61Q(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TACTCCTCCTGGCCGGCGGTA 0.597000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 73 118 0 0 1 0 0 CREB3L3 84699 broad.mit.edu 37 19 4157169 4157169 + Missense_Mutation SNP G G A rs145839480 byFrequency TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr19:4157169G>A uc002lzl.3 + 2 450 c.334G>A c.(334-336)Ggc>Agc p.G112S CREB3L3_uc002lzm.3_Missense_Mutation_p.G102S|CREB3L3_uc010xib.2_Missense_Mutation_p.G103S|CREB3L3_uc010xic.2_Missense_Mutation_p.G103S NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA. 112 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCCCCGCCGGCTGCCATCC 0.657000 6 124 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39512314 39512314 + Silent SNP C C G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr6:39512314C>G uc010jxb.1 - 11 1538 c.1443G>C c.(1441-1443)gtG>gtC p.V481V KIF6_uc010jxa.1_Intron|KIF6_uc003oot.2_Intron|KIF6_uc011dua.1_Intron NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN Homo sapiens kinesin family member 6 (KIF6), mRNA. 481 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 GTTTCTTCATCACTTCAGAAA 0.408000 4 49 0 0 1 0 0 ZNF33B 7582 broad.mit.edu 37 10 43089114 43089114 + Silent SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr10:43089114G>A uc001jaf.1 - 4 1399 c.1284C>T c.(1282-1284)ctC>ctT p.L428L ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.L316L|ZNF33B_uc001jad.3_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN Homo sapiens zinc finger protein 33B (ZNF33B), mRNA. 428 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 GATGTTTAGTGAGGTCAGATT 0.418000 65 96 0 0 1 0 0 ZNF692 55657 broad.mit.edu 37 1 249151529 249151529 + Missense_Mutation SNP T T G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr1:249151529T>G uc010pzr.2 - 3 806 c.394A>C c.(394-396)Agc>Cgc p.S132R ZNF692_uc001iez.2_5'Flank|ZNF692_uc001ifb.2_5'UTR|ZNF692_uc001ifc.2_Missense_Mutation_p.S127R|ZNF692_uc001iff.2_Missense_Mutation_p.S127R NM_001136036 NP_060335 Q9BU19 ZN692_HUMAN Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 1, mRNA. 127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(6)|lung(7)|stomach(1) 17 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) GGTGTAGGGCTCAAAGAGGGT 0.637000 54 81 0 0 1 0 0 KLHL35 283212 broad.mit.edu 37 11 75134897 75134897 + Missense_Mutation SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr11:75134897G>A uc001owm.2 - 4 1402 c.1402C>T c.(1402-1404)Cgg>Tgg p.R468W NM_001039548 NP_001034637 Q6PF15 KLH35_HUMAN Homo sapiens kelch-like 35 (Drosophila) (KLHL35), mRNA. 248 lung(2)|stomach(1) 3 AGGCTCCACCGGTCCTCCTTG 0.612000 3 28 0 0 1 0 0 FAM76B 143684 broad.mit.edu 37 11 95522617 95522617 + Missense_Mutation SNP C C G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr11:95522617C>G uc001pfn.2 - 0 338 c.26G>C c.(25-27)tGc>tCc p.C9S CEP57_uc001pfo.2_5'Flank|CEP57_uc009ywn.2_5'Flank|CEP57_uc010ruh.2_5'Flank|CEP57_uc001pfp.2_5'Flank|CEP57_uc001pfq.2_5'Flank|CEP57_uc001pfr.2_5'Flank|FAM76B_uc001pfm.2_Non-coding_Transcript NM_144664 NP_653265 Q5HYJ3 FA76B_HUMAN Homo sapiens family with sequence similarity 76, member B (FAM76B), mRNA. 9 breast(1)|kidney(1)|lung(1) 3 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ACACTTGGTGCAGGCGTACAG 0.711000 5 24 0 0 1 0 0 PDLIM7 9260 broad.mit.edu 37 5 176919616 176919616 + Silent SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr5:176919616G>A uc003mhc.1 - 2 244 c.159C>T c.(157-159)atC>atT p.I53I PDLIM7_uc003mha.1_5'Flank|PDLIM7_uc003mhd.1_5'UTR|PDLIM7_uc003mhe.1_Non-coding_Transcript|PDLIM7_uc003mhb.1_Silent_p.I53I|PDLIM7_uc003mhf.3_Silent_p.I53I|PDLIM7_uc003mhg.1_Silent_p.I53I NM_005451 NP_005442 Q9NR12 PDLI7_HUMAN Homo sapiens PDZ and LIM domain 7 (enigma) (PDLIM7), transcript variant 1, mRNA. 53 PDZ. cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis cytoplasm|focal adhesion protein binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 10 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTCGCCATCGATGCTCAGCA 0.652000 4 141 0 0 1 0 0 ZNF839 55778 broad.mit.edu 37 14 102807889 102807890 + Frame_Shift_Del DEL GG GG - TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr14:102807889_102807890delGG uc010awk.1 + 7 2164_2165 c.2157_2158delGG c.(2155-2160)caggtgfs p.Q719fs ZNF839_uc001ylo.2_Frame_Shift_Del_p.Q603fs|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Intron|ZNF839_uc001ylr.2_Frame_Shift_Del_p.Q528fs|ZNF839_uc001yls.2_Frame_Shift_Del_p.Q220fs|ZNF839_uc001ylt.2_Frame_Shift_Del_p.Q193fs NM_018335 NP_060805 A8K0R7 ZN839_HUMAN Homo sapiens zinc finger protein 839 (ZNF839), mRNA. 603 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CCCAGGCACAGGTGGCAGCGTT 0.589 7 11 --- --- --- --- TMEM62 80021 broad.mit.edu 37 15 43446993 43446995 + In_Frame_Del DEL CAG CAG - TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr15:43446993_43446995delCAG uc001zqr.3 + 8 1425_1427 c.1146_1148delCAG c.(1144-1149)tacagt>tat p.S384del TMEM62_uc010bda.3_In_Frame_Del_p.S254del NM_024956 NP_079232 Q0P6H9 TMM62_HUMAN Homo sapiens transmembrane protein 62 (TMEM62), mRNA. 384 integral to membrane breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) CTAGAAACTACAGTAGTGGGACA 0.379 15 29 --- --- --- --- HERC1 8925 broad.mit.edu 37 15 63901361 63901361 + Frame_Shift_Del DEL G G - TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr15:63901361delG uc002amp.3 - 77 14653 c.14505delC c.(14503-14505)aacfs p.N4835fs HERC1_uc002amo.3_Non-coding_Transcript NM_003922 NP_003913 Q15751 HERC1_HUMAN Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA. 4835 HECT. protein modification process|transport Golgi apparatus|cytosol|membrane ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 AGCGGCAGTTGTTGATGGCAT 0.602 20 24 --- --- --- ---