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 MTMR8 55613 broad.mit.edu 37 X 63444272 63444272 + Silent SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chrX:63444272G>A ENST00000453546.1 - 11 2114 c.2025C>T c.(2023-2025)gcC>gcT p.A675A ASB12_ENST00000396130.2_Silent_p.A291A|ASB12_ENST00000362002.2_Silent_p.A300A Q96EF0 MTMR8_HUMAN myotubularin related protein 8 0 nuclear envelope protein tyrosine phosphatase activity p.0?(2) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 GCTGGTTGATGGCTTGTGGCT 0.507000 4 36 0 0 0.001168 0 0 CDHR2 54825 broad.mit.edu 37 5 176018404 176018404 + Splice_Site SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr5:176018404G>A ENST00000510636.1 + 30 3927 c.e30-1 CDHR2_ENST00000261944.5_Splice_Site|CDHR2_ENST00000506348.1_Splice_Site NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 TTTCTCTCCAGAGCCAACCCC 0.577000 11 53 0 0 0.008291 0 0 HERC2 8924 broad.mit.edu 37 15 28538128 28538128 + Silent SNP C C T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr15:28538128C>T ENST00000261609.7 - 4 336 c.228G>A c.(226-228)ctG>ctA p.L76L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 76 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTTTGTCATTCAGATCTTCTT 0.393000 8 71 0 0 0.003080 0 0 NPY5R 4889 broad.mit.edu 37 4 164272135 164272135 + Missense_Mutation SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr4:164272135G>A ENST00000515560.1 + 4 2232 c.710G>A c.(709-711)aGt>aAt p.S237N NPY5R_ENST00000338566.3_Missense_Mutation_p.S237N|NPY5R_ENST00000506953.1_Missense_Mutation_p.S237N Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 237 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) GTCTGCAGAAGTATAAGCTGT 0.368000 19 61 0 0 0.007413 0 0 GSE1 23199 broad.mit.edu 37 16 85699645 85699645 + Missense_Mutation SNP C C T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr16:85699645C>T ENST00000253458.7 + 13 2998 c.2822C>T c.(2821-2823)tCt>tTt p.S941F GSE1_ENST00000405402.2_Missense_Mutation_p.S837F|GSE1_ENST00000393243.1_Missense_Mutation_p.S868F NM_014615.2 NP_055430.1 Gse1 coiled-coil protein GCTTCCTTGTCTGACATCCCA 0.567000 3 44 0 0 0.000248 0 0 SERPINB4 6318 broad.mit.edu 37 18 61309020 61309020 + Missense_Mutation SNP C C T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr18:61309020C>T ENST00000341074.5 - 4 440 c.325G>A c.(325-327)Gga>Aga p.G109R SERPINB4_ENST00000356424.6_Missense_Mutation_p.G109R NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 p.G109*(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 GTCTTTTCTCCGAAGAGCTTG 0.413000 11 80 0 0 0.001368 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319866 21319866 + Silent SNP C C T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr17:21319866C>T ENST00000583088.1 + 3 2107 c.1212C>T c.(1210-1212)ctC>ctT p.L404L KCNJ12_ENST00000331718.5_Silent_p.L404L NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) GGGACGGCCTCAGCCCCCAGG 0.662000 Prostate(3;0.18) 5 75 0 0 0.000602 0 0 PIWIL1 9271 broad.mit.edu 37 12 130840124 130840124 + Missense_Mutation SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr12:130840124G>A ENST00000245255.3 + 12 1588 c.1316G>A c.(1315-1317)cGa>cAa p.R439Q NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 439 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) AGGGAGCTTCGAGACTGGGGT 0.393000 15 158 0 0 0.004007 0 0 GLI2 2736 broad.mit.edu 37 2 121729595 121729595 + Missense_Mutation SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr2:121729595G>A ENST00000452319.1 + 8 1198 c.1138G>A c.(1138-1140)Gag>Aag p.E380K GLI2_ENST00000314490.11_Missense_Mutation_p.E52K|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.E380K P10070 GLI2_HUMAN GLI family zinc finger 2 380 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GGTCAAGACCGAGCCTGAGGG 0.647000 9 62 0 0 0.006214 0 0 SMARCC2 6601 broad.mit.edu 37 12 56572620 56572620 + Missense_Mutation SNP C C T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr12:56572620C>T ENST00000394023.3 - 13 1258 c.1153G>A c.(1153-1155)Gat>Aat p.D385N SMARCC2_ENST00000347471.4_Missense_Mutation_p.D385N|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.D385N|SMARCC2_ENST00000267064.4_Missense_Mutation_p.D385N NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 385 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) ATGCTTTCATCTTCCTGTTCA 0.483000 4 46 0 0 0.000248 0 0 COL8A1 1295 broad.mit.edu 37 3 99509630 99509630 + Missense_Mutation SNP C C T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr3:99509630C>T ENST00000261037.3 + 4 484 c.104C>T c.(103-105)cCg>cTg p.P35L COL8A1_ENST00000273342.4_Missense_Mutation_p.P35L NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 35 Nonhelical region (NC2). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 GGGATCAAGCCGCTGCCACCT 0.557000 4 95 0 0 0.000602 0 0 PTK7 5754 broad.mit.edu 37 6 43113061 43113061 + Missense_Mutation SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr6:43113061G>A ENST00000230419.4 + 16 2752 c.2531G>A c.(2530-2532)cGg>cAg p.R844Q PTK7_ENST00000481273.1_Missense_Mutation_p.R852Q|PTK7_ENST00000352931.2_Missense_Mutation_p.R788Q|PTK7_ENST00000349241.2_Missense_Mutation_p.R714Q|PTK7_ENST00000345201.2_Missense_Mutation_p.R804Q NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 844 Interaction with CTNNB1.|Protein kinase; inactive. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CTGGACTTCCGGAGGGAGTTG 0.602000 13 52 0 0 0.001855 0 0 OR2L13 284521 broad.mit.edu 37 1 248263541 248263541 + Silent SNP C C A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr1:248263541C>A ENST00000366478.2 + 3 1201 c.864C>A c.(862-864)atC>atA p.I288I OR2L13_ENST00000358120.2_Silent_p.I288I NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) ATCCCATTATCTACAGCCTGA 0.493000 8 59 0.00448238 0.00563693 0.004482 1 0 ZNF208 7757 broad.mit.edu 37 19 22154658 22154658 + Missense_Mutation SNP C C T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr19:22154658C>T ENST00000397126.4 - 4 3326 c.3178G>A c.(3178-3180)Gaa>Aaa p.E1060K ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CCACATTCTTCACATTTGTAG 0.463000 8 145 0 0 0.004482 0 0 PODXL 5420 broad.mit.edu 37 7 131195709 131195709 + Missense_Mutation SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr7:131195709G>A ENST00000541194.1 - 2 847 c.590C>T c.(589-591)aCg>aTg p.T197M PODXL_ENST00000378555.3_Missense_Mutation_p.T195M|PODXL_ENST00000322985.9_Missense_Mutation_p.T195M|PODXL_ENST00000537928.1_Missense_Mutation_p.T195M NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 195 Thr-rich. cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.T195M(1) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) CACAGGATGCGTCGAAGTGGG 0.537000 6 81 0 0 0.001168 0 0 FAM86DP 692099 broad.mit.edu 37 3 75475709 75475709 + RNA SNP T T C TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr3:75475709T>C ENST00000459803.1 - 0 820 NR_024241.1 p.I261V(1) CTCCGCAGGATCCCGACCAGC 0.562000 5 53 0 0 0.000602 0 0 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr17:7577539G>A ENST00000420246.2 - 7 874 c.742C>T c.(742-744)Cgg>Tgg p.R248W TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGGCCTCCGGTTCATGCCG 0.577000 R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 13 50 0 0 0.003163 0 0 VWA7 80737 broad.mit.edu 37 6 31736952 31736952 + Nonsense_Mutation SNP G G C TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr6:31736952G>C ENST00000375686.3 - 10 1583 c.1346C>G c.(1345-1347)tCa>tGa p.S449* VWA7_ENST00000375688.4_Nonsense_Mutation_p.S449*|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Nonsense_Mutation_p.S449* NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 449 extracellular region CTGAACCCTTGATGTATCTTC 0.522000 4 66 0 0 0.000248 0 0 TRPV1 7442 broad.mit.edu 37 17 3470183 3470183 + Nonsense_Mutation SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr17:3470183G>A ENST00000174621.6 - 15 2729 c.2440C>T c.(2440-2442)Cga>Tga p.R814* TRPV1_ENST00000571088.1_Nonsense_Mutation_p.R816*|SHPK_ENST00000572705.1_Nonsense_Mutation_p.R816*|TRPV1_ENST00000425167.2_Nonsense_Mutation_p.R827*|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.R756*|TRPV1_ENST00000399756.4_Nonsense_Mutation_p.R816*|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.R806*|TRPV1_ENST00000399759.3_Nonsense_Mutation_p.R816* Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, subfamily V, member 1 816 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) GAAAACTGTCGCAGATAAACT 0.547000 5 39 0 0 0.000602 0 0 EML5 161436 broad.mit.edu 37 14 89130941 89130941 + Missense_Mutation SNP G G C TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr14:89130941G>C ENST00000554922.1 - 23 3553 c.3305C>G c.(3304-3306)tCc>tGc p.S1102C EML5_ENST00000380664.5_Missense_Mutation_p.S1102C|EML5_ENST00000352093.5_Missense_Mutation_p.S1064C NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1102 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GCTGTCATGGGATGCTACAGC 0.328000 4 65 0 0 0.000248 0 0 EEFSEC 60678 broad.mit.edu 37 3 127983609 127983609 + Silent SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr3:127983609G>A ENST00000254730.6 + 4 825 c.771G>A c.(769-771)gaG>gaA p.E257E EEFSEC_ENST00000483457.1_Intron NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 257 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 ACAGTGTGGAGATCCCTGCCC 0.567000 7 58 0 0 0.001984 0 0 AUTS2 26053 broad.mit.edu 37 7 70236612 70236612 + Silent SNP A A G TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr7:70236612A>G ENST00000342771.4 + 11 2133 c.1812A>G c.(1810-1812)caA>caG p.Q604Q AUTS2_ENST00000406775.2_Silent_p.Q604Q NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 604 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GTTCACTACAAGGAGCATTTC 0.567000 8 99 0 0 0.004482 0 0 NCK2 8440 broad.mit.edu 37 2 106497876 106497876 + Missense_Mutation SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr2:106497876G>A ENST00000233154.4 + 4 761 c.319G>A c.(319-321)Gac>Aac p.D107N NCK2_ENST00000393349.2_Missense_Mutation_p.D107N|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 107 axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 CAGCGGCGCCGACCGCATCTA 0.682000 9 56 0 0 0.004482 0 0 SMARCC2 6601 broad.mit.edu 37 12 56575490 56575490 + Nonsense_Mutation SNP C C A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr12:56575490C>A ENST00000394023.3 - 9 943 c.838G>T c.(838-840)Gag>Tag p.E280* SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.E280*|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.E280*|SMARCC2_ENST00000267064.4_Nonsense_Mutation_p.E280* NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 280 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TTTGTCACCTCATCTGTCAGT 0.433000 9 113 0.00621372 0.00769759 0.006214 1 0 ZBTB18 10472 broad.mit.edu 37 1 244218372 244218372 + Silent SNP C C T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr1:244218372C>T ENST00000358704.4 + 2 1445 c.1296C>T c.(1294-1296)taC>taT p.Y432Y NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 CTTGCATGTACACCCTCAAGC 0.627000 7 76 0 0 0.003080 0 0 CADPS2 93664 broad.mit.edu 37 7 122194724 122194724 + Missense_Mutation SNP G G C TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr7:122194724G>C ENST00000334010.7 - 8 1776 c.1355C>G c.(1354-1356)tCt>tGt p.S452C CADPS2_ENST00000449022.2_Missense_Mutation_p.S452C|CADPS2_ENST00000412584.2_Missense_Mutation_p.S452C|CADPS2_ENST00000476131.1_5'UTR|CADPS2_ENST00000313070.7_Missense_Mutation_p.S452C NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 452 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 GGAGCTATTAGAAGTTGGGTA 0.358000 4 31 0 0 0.000248 0 0 GPR25 2848 broad.mit.edu 37 1 200842880 200842880 + Missense_Mutation SNP C C T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr1:200842880C>T ENST00000304244.2 + 1 798 c.715C>T c.(715-717)Cgg>Tgg p.R239W NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 239 integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 GGGTCGGGCCCGGAGGAACTC 0.692000 5 58 0 0 0.000602 0 0 NAA11 84779 broad.mit.edu 37 4 80246805 80246805 + Missense_Mutation SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr4:80246805G>A ENST00000286794.4 - 1 399 c.227C>T c.(226-228)gCc>gTc p.A76V NM_032693.2 NP_116082.1 Q9BSU3 NAA11_HUMAN N(alpha)-acetyltransferase 11, NatA catalytic subunit 76 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 ACGCTTCACGGCCAGTGAGGT 0.562000 10 96 0 0 0.006214 0 0 ADARB2 105 broad.mit.edu 37 10 1284215 1284215 + Missense_Mutation SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr10:1284215G>A ENST00000381312.1 - 5 1665 c.1340C>T c.(1339-1341)aCg>aTg p.T447M NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 447 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) CTCCAGCTGCGTGTAGAGGAA 0.701000 4 19 0 0 0.001168 0 0 IQCD 115811 broad.mit.edu 37 12 113633454 113633454 + Missense_Mutation SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr12:113633454G>A ENST00000416617.2 - 5 1466 c.1276C>T c.(1276-1278)Cgg>Tgg p.R426W IQCD_ENST00000299732.2_Missense_Mutation_p.R324W Q96DY2 IQCD_HUMAN IQ motif containing D 426 IQ. endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 cccttgccccgcttcttctTG 0.607000 22 103 0 0 0.003330 0 0 PTCH1 5727 broad.mit.edu 37 9 98220448 98220448 + Silent SNP C C A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr9:98220448C>A ENST00000430669.2 - 18 3402 c.2817G>T c.(2815-2817)ggG>ggT p.G939G PTCH1_ENST00000331920.6_Silent_p.G1005G|PTCH1_ENST00000418258.1_Silent_p.G854G|PTCH1_ENST00000429896.2_Silent_p.G854G|PTCH1_ENST00000421141.1_Silent_p.G854G|PTCH1_ENST00000375274.2_Silent_p.G1004G|PTCH1_ENST00000437951.1_Silent_p.G939G Q13635 PTC1_HUMAN patched 1 1005 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.I963fs*2(1) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) AACTGGACAGCCCCAGGCTCG 0.567000 22 68 0.000295444 0.000377259 0.002299 1 0 H3F3C 440093 broad.mit.edu 37 12 31944914 31944914 + Missense_Mutation SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr12:31944914G>A ENST00000340398.3 - 1 261 c.187C>T c.(187-189)Cgg>Tgg p.R63W NM_001013699.2 NP_001013721.2 Q6NXT2 H3C_HUMAN H3 histone, family 3C 63 nucleosome assembly nucleosome|nucleus DNA binding p.R63R(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 18 GGCAGCTTCCGGATGAGCAGC 0.612000 HNSCC(67;0.2) 3 85 0 0 0.004672 0 0 FAM13A 10144 broad.mit.edu 37 4 89950619 89950619 + Translation_Start_Site SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr4:89950619G>A ENST00000511976.1 - 0 404 FAM13A_ENST00000515600.1_Missense_Mutation_p.T70M|FAM13A_ENST00000264344.5_Missense_Mutation_p.T70M|FAM13A_ENST00000509094.1_Missense_Mutation_p.T70M|FAM13A_ENST00000502459.1_5'UTR O94988 FA13A_HUMAN family with sequence similarity 13, member A 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 ACCATGCTGCGTCAAATATTC 0.393000 4 152 0 0 0.000248 0 0 INPP1 3628 broad.mit.edu 37 2 191235874 191235874 + Missense_Mutation SNP G G T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr2:191235874G>T ENST00000392329.2 + 7 1646 c.946G>T c.(946-948)Gac>Tac p.D316Y INPP1_ENST00000541441.1_Missense_Mutation_p.D316Y|INPP1_ENST00000322522.4_Missense_Mutation_p.D316Y NM_001128928.1 NP_001122400.1 P49441 INPP_HUMAN inositol polyphosphate-1-phosphatase 316 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) ATTCAAATGGGACTCTTGTGC 0.463000 5 94 5.9392e-07 7.7024e-07 0.001168 1 0 SGIP1 84251 broad.mit.edu 37 1 67195004 67195004 + Silent SNP A A G TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr1:67195004A>G ENST00000371037.4 + 20 1877 c.1800A>G c.(1798-1800)agA>agG p.R600R SGIP1_ENST00000371036.3_Silent_p.R402R|SGIP1_ENST00000371039.1_Silent_p.R403R|SGIP1_ENST00000237247.6_Silent_p.R631R|SGIP1_ENST00000371035.3_Silent_p.R390R|SGIP1_ENST00000435165.2_Silent_p.R105R NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 600 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 GCATCACCAGACACTTTGCCA 0.468000 7 86 0 0 0.001984 0 0 ZNF675 171392 broad.mit.edu 37 19 23836193 23836193 + Silent SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr19:23836193G>A ENST00000359788.4 - 4 1710 c.1542C>T c.(1540-1542)ggC>ggT p.G514G ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 514 G -> S (in Ref. 1; AAK95822). bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TAAAAGCTTTGCCACATTCTT 0.368000 7 35 0 0 0.001984 0 0 VCAN 1462 broad.mit.edu 37 5 82817997 82817997 + Missense_Mutation SNP C C G TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr5:82817997C>G ENST00000265077.3 + 7 4437 c.3872C>G c.(3871-3873)aCa>aGa p.T1291R VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.T1291R|VCAN_ENST00000512590.2_Missense_Mutation_p.T1243R NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1291 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACACAGCCAACAAGACCACCC 0.478000 13 86 0 0 0.001368 0 0 DNAJB2 3300 broad.mit.edu 37 2 220144591 220144591 + Silent SNP A A T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr2:220144591A>T ENST00000336576.5 + 2 324 c.36A>T c.(34-36)cgA>cgT p.R12R DNAJB2_ENST00000392086.4_Silent_p.R12R NM_006736.5 NP_006727.2 P25686 DNJB2_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 2 12 J. ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein inclusion body heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 Renal(207;0.0474) Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACGTGCCGCGAAGTGCGTCCG 0.592000 15 60 0 0 0.004990 0 0 MUTYH 4595 broad.mit.edu 37 1 45799087 45799087 + Missense_Mutation SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr1:45799087G>A ENST00000450313.1 - 3 561 c.346C>T c.(346-348)Cgg>Tgg p.R116W MUTYH_ENST00000355498.2_Missense_Mutation_p.R88W|MUTYH_ENST00000448481.1_Missense_Mutation_p.R99W|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000354383.6_Missense_Mutation_p.R89W|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000372104.1_Missense_Mutation_p.R88W|MUTYH_ENST00000456914.2_Missense_Mutation_p.R88W|MUTYH_ENST00000372110.3_Missense_Mutation_p.R103W|MUTYH_ENST00000372098.3_Missense_Mutation_p.R113W|MUTYH_ENST00000372100.5_Missense_Mutation_p.R99W|MUTYH_ENST00000372115.3_Missense_Mutation_p.R102W NM_001128425.1|NM_012222.2 NP_001121897.1|NP_036354.1 Q9UIF7 MUTYH_HUMAN mutY homolog 113 depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) CTGCCTACCCGTCTTCTCCAT 0.582000 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis 8 80 0 0 0.004482 0 0 AFAP1 60312 broad.mit.edu 37 4 7840316 7840316 + Missense_Mutation SNP G G C TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr4:7840316G>C ENST00000420658.1 - 6 933 c.661C>G c.(661-663)Cag>Gag p.Q221E AFAP1_ENST00000382543.3_Missense_Mutation_p.Q221E|AFAP1_ENST00000358461.2_Missense_Mutation_p.Q221E|AFAP1_ENST00000360265.4_Missense_Mutation_p.Q221E NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 221 PH 1. actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 GTGCCCTGCTGAGTAATCTTC 0.532000 3 77 0 0 0.004672 0 0 PSMD3 5709 broad.mit.edu 37 17 38142872 38142872 + Silent SNP A A G TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr17:38142872A>G ENST00000264639.4 + 3 630 c.456A>G c.(454-456)ggA>ggG p.G152G PSMD3_ENST00000541736.1_Silent_p.G14G NM_002809.3 NP_002800.2 O43242 PSMD3_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 152 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(19;0.000442) CCCGCACGGGAAAAGCTGCGT 0.512000 3 184 0 0 0.004672 0 0 STAM2 10254 broad.mit.edu 37 2 153000432 153000432 + Missense_Mutation SNP G G A rs137997902 TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr2:153000432G>A ENST00000263904.4 - 7 962 c.613C>T c.(613-615)Cgg>Tgg p.R205W STAM2_ENST00000465460.1_5'UTR NM_005843.4 NP_005834.4 O75886 STAM2_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 205 SH3. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding endometrium(3)|large_intestine(4)|lung(8)|ovary(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.22) CTCACTTTCCGTGCAACCTTA 0.333000 6 47 0 0 0.001984 0 0 AOC1 26 broad.mit.edu 37 7 150553561 150553561 + Translation_Start_Site SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr7:150553561G>A ENST00000493429.1 + 4 587 c.3G>A c.(1-3)atG>atA p.M1I AOC1_ENST00000360937.4_Start_Codon_SNP_p.M1I|AOC1_ENST00000416793.2_Start_Codon_SNP_p.M1I|AOC1_ENST00000467291.1_Start_Codon_SNP_p.M1I amine oxidase, copper containing 1 AGCGAGAGATGCCGGCCCTGG 0.607000 6 48 0 0 0.001984 0 0 FAM45B 55855 broad.mit.edu 37 X 129629115 129629115 + RNA SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chrX:129629115G>A ENST00000458525.1 - 0 1080 FAM45B_ENST00000592932.1_RNA TTAGAGCTGCGCGCCGCGGCG 0.537000 3 23 0 0 0.004672 0 0 TRPM2 7226 broad.mit.edu 37 21 45837846 45837846 + Missense_Mutation SNP G G C TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr21:45837846G>C ENST00000397928.1 + 21 3628 c.3183G>C c.(3181-3183)caG>caC p.Q1061H TRPM2_ENST00000300482.5_Missense_Mutation_p.Q1061H|TRPM2_ENST00000397932.2_Missense_Mutation_p.Q1061H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.Q1041H NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1061 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 ACACGGACCAGATTTGGAAGT 0.612000 4 66 0 0 0.000248 0 0 KIAA0556 23247 broad.mit.edu 37 16 27751578 27751578 + Missense_Mutation SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr16:27751578G>A ENST00000261588.4 + 15 1979 c.1960G>A c.(1960-1962)Gag>Aag p.E654K NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 654 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 CGGGGACAAGGAGCTTGGTCT 0.507000 6 68 0 0 0.001984 0 0 FCGBP 8857 broad.mit.edu 37 19 40368837 40368837 + Missense_Mutation SNP C C T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr19:40368837C>T ENST00000221347.6 - 28 12518 c.12511G>A c.(12511-12513)Gac>Aac p.D4171N NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4171 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ATCCGCCCGTCGGCCACGGAG 0.617000 6 433 0 0 0.001984 0 0 NKAP 79576 broad.mit.edu 37 X 119077227 119077227 + Nonsense_Mutation SNP C C T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chrX:119077227C>T ENST00000371410.3 - 1 508 c.342G>A c.(340-342)tgG>tgA p.W114* NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 114 negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 GGAGGCTAGGCCAAGGCTTGT 0.637000 8 39 0 0 0.003080 0 0 NTRK1 4914 broad.mit.edu 37 1 156837972 156837972 + Missense_Mutation SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr1:156837972G>A ENST00000368196.3 + 5 625 c.505G>A c.(505-507)Gga>Aga p.G169R NTRK1_ENST00000524377.1_Missense_Mutation_p.G169R|NTRK1_ENST00000358660.3_Missense_Mutation_p.G169R|NTRK1_ENST00000392302.2_Missense_Mutation_p.G139R NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 169 LRRCT. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GGGACTGGGCGGAGTGCCTGA 0.657000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 7 64 0 0 0.003080 0 0 KDM3B 51780 broad.mit.edu 37 5 137727716 137727716 + Silent SNP C C T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr5:137727716C>T ENST00000314358.5 + 8 2595 c.2395C>T c.(2395-2397)Ctg>Ttg p.L799L KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Silent_p.L455L NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 799 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AAGGTTCTCACTGGATGAACG 0.512000 29 207 0 0 0.007291 0 0 RINL 126432 broad.mit.edu 37 19 39361610 39361610 + Silent SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr19:39361610G>A ENST00000340740.3 - 8 669 c.282C>T c.(280-282)caC>caT p.H94H RINL_ENST00000591812.1_Silent_p.H208H|RINL_ENST00000598904.1_Silent_p.H94H|CTC-360G5.6_ENST00000593830.1_RNA NM_001195833.1|NM_198445.3 NP_001182762.1|NP_940847.1 Q6ZS11 RINL_HUMAN Ras and Rab interactor-like 94 GTPase activator activity endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2) 17 AGGAGACCCCGTGAGGCGCAG 0.672000 13 96 0 0 0.001368 0 0 WDR48 57599 broad.mit.edu 37 3 39116272 39116272 + Missense_Mutation SNP G G C TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr3:39116272G>C ENST00000302313.5 + 8 756 c.728G>C c.(727-729)aGa>aCa p.R243T WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.R161T|WDR48_ENST00000544962.1_Missense_Mutation_p.R35T NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 243 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GGCCAGCAGAGATGTATAGCA 0.478000 14 54 0 0 0.004007 0 0 KCTD8 386617 broad.mit.edu 37 4 44450256 44450256 + Silent SNP C C T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr4:44450256C>T ENST00000360029.3 - 1 568 c.285G>A c.(283-285)gcG>gcA p.A95A NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 95 BTB. cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 TGAAGAAGCGCGCCCGGCTGT 0.667000 HNSCC(17;0.042) 4 24 0 0 0.000248 0 0 TMEM216 51259 broad.mit.edu 37 11 61165278 61165278 + Missense_Mutation SNP C C T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr11:61165278C>T ENST00000515837.2 + 4 1207 c.262C>T c.(262-264)Ccg>Tcg p.P88S TMEM216_ENST00000334888.5_Missense_Mutation_p.P88S|TMEM216_ENST00000398979.3_Missense_Mutation_p.P27S Q9P0N5 TM216_HUMAN transmembrane protein 216 81 integral to membrane endometrium(1)|large_intestine(2)|lung(1)|prostate(2) 6 GCGAAAGATGCCGCTCAGTAT 0.552000 4 124 0 0 0.000248 0 0 ZNF473 25888 broad.mit.edu 37 19 50548556 50548556 + Missense_Mutation SNP C C G TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr19:50548556C>G ENST00000595661.1 + 6 1351 c.856C>G c.(856-858)Cac>Gac p.H286D ZNF473_ENST00000445728.3_Missense_Mutation_p.H274D|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.H286D|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.H286D Q8WTR7 ZN473_HUMAN zinc finger protein 473 286 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) TCAGAAAACTCACACTGGAGA 0.428000 8 94 0 0 0.003080 0 0 TXLNB 167838 broad.mit.edu 37 6 139609822 139609822 + Missense_Mutation SNP G G C TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr6:139609822G>C ENST00000358430.3 - 2 447 c.215C>G c.(214-216)tCt>tGt p.S72C NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 72 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) GCTGGCAGCAGACCCATAAGT 0.542000 14 118 0 0 0.003163 0 0 AP5M1 55745 broad.mit.edu 37 14 57746958 57746958 + Missense_Mutation SNP C C T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr14:57746958C>T ENST00000261558.3 + 3 1172 c.766C>T c.(766-768)Ctc>Ttc p.L256F AP5M1_ENST00000556723.1_3'UTR|AP5M1_ENST00000431972.2_Missense_Mutation_p.L270F NM_018229.3 NP_060699.3 Q9H0R1 MUDEN_HUMAN adaptor-related protein complex 5, mu 1 subunit 256 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex CAGCTTGAGTCTCCCCACCAA 0.398000 10 172 0 0 0.000978 0 0 FAM66B 100128890 broad.mit.edu 37 8 7196263 7196264 + RNA DEL AC AC - TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr8:7196263_7196264delAC ENST00000606573.1 - 0 703 ACTGAGGGGTacacacacacac 0.500 3 2 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 3 6 --- --- --- --- KRT17P1 147228 broad.mit.edu 37 17 16748911 16748913 + RNA DEL GCT GCT - TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr17:16748911_16748913delGCT ENST00000580363.1 - 0 282_284 lung(4) 4 CGCCCTCAAAGCTGCTGCTGCCA 0.650 3 3 --- --- --- --- FRG1BP 284802 broad.mit.edu 37 20 29628226 29628226 + Splice_Site DEL G G - rs78710112 by1000genomes TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b93863c2-4657-4ca2-8fce-094fe5df163a acce94e0-e7f7-45af-adb3-fc1611312cbd g.chr20:29628226delG ENST00000278882.3 + 6 608 c.e6-1 FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTTCACTTAGGGGAAAATGG 0.358 7 67 --- --- --- ---