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 CASZ1 54897 broad.mit.edu 37 1 10709155 10709155 + Missense_Mutation SNP T T G TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr1:10709155T>G ENST00000377022.3 - 15 3447 c.3130A>C c.(3130-3132)Acc>Ccc p.T1044P RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.T1044P NM_001079843.2 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 1044 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CCGTCCAAGGTGCTGAAGAGC 0.622 4 29 --- --- --- --- PDE4DIP 9659 broad.mit.edu 37 1 144930736 144930736 + Missense_Mutation SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr1:144930736C>T ENST00000529945.1 - 1 1412 c.973G>A c.(973-975)Ggc>Agc p.G325S PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G325S|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATGCTAGGGCCAGGCTTGGCT 0.498 T PDGFRB MPD 7 103 --- --- --- --- ITLN1 55600 broad.mit.edu 37 1 160851965 160851965 + Missense_Mutation SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr1:160851965C>T ENST00000326245.3 - 4 302 c.187G>A c.(187-189)Ggt>Agt p.G63S NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 63 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TAGATAACACCATTCTCAGTG 0.557 17 40 --- --- --- --- MDM4 4194 broad.mit.edu 37 1 204513776 204513776 + Missense_Mutation SNP A A C TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr1:204513776A>C ENST00000367182.3 + 9 948 c.786A>C c.(784-786)caA>caC p.Q262H MDM4_ENST00000454264.2_Intron|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000507825.2_Intron NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4 NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2 O15151 MDM4_HUMAN Mdm4 p53 binding protein homolog (mouse) 262 Asp/Glu-rich (acidic).|Region II. apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) ATACTGAACAAACAAGTGAAG 0.363 A """GBM, bladder, retinoblastoma""" 15 31 --- --- --- --- USH2A 7399 broad.mit.edu 37 1 215963438 215963438 + Missense_Mutation SNP A A T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr1:215963438A>T ENST00000366943.2 - 51 10531 c.10145T>A c.(10144-10146)gTt>gAt p.V3382D USH2A_ENST00000307340.3_Missense_Mutation_p.V3382D O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3382 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTCAGAGCAAACATATTTCAA 0.378 HNSCC(13;0.011) 13 47 --- --- --- --- RNF144A 9781 broad.mit.edu 37 2 7160686 7160686 + Silent SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr2:7160686G>A ENST00000320892.6 + 6 826 c.384G>A c.(382-384)caG>caA p.Q128Q RNF144A_ENST00000467276.1_3'UTR NM_014746.3 NP_055561.2 P50876 R144A_HUMAN ring finger protein 144A 128 Golgi apparatus|integral to membrane ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1) 25 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) TGGGGCTGCAGACCCCCCAGC 0.627 14 70 --- --- --- --- ACTR3 10096 broad.mit.edu 37 2 114714958 114714958 + Missense_Mutation SNP C C G TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr2:114714958C>G ENST00000263238.2 + 12 1503 c.1183C>G c.(1183-1185)Cac>Gac p.H395D ACTR3_ENST00000536059.1_Missense_Mutation_p.H333D|ACTR3_ENST00000535589.2_Missense_Mutation_p.H344D NM_001277140.1|NM_005721.3 NP_001264069.1|NP_005712.1 P61158 ARP3_HUMAN ARP3 actin-related protein 3 homolog (yeast) 395 cellular component movement|cilium morphogenesis Arp2/3 protein complex actin binding|ATP binding autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2) 15 CCAAGTATGCCACACCAAAAA 0.338 6 47 --- --- --- --- ANKRD28 23243 broad.mit.edu 37 3 15721039 15721039 + Missense_Mutation SNP T T G TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr3:15721039T>G ENST00000399451.2 - 22 2698 c.2331A>C c.(2329-2331)gaA>gaC p.E777D ANKRD28_ENST00000383777.1_Missense_Mutation_p.E810D|ANKRD28_ENST00000497037.1_5'UTR NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 777 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 AAACTTCCTGTTCTAAAAGCA 0.368 2 13 --- --- --- --- CTNNB1 1499 broad.mit.edu 37 3 41266097 41266097 + Missense_Mutation SNP G G T rs28931588 TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr3:41266097G>T ENST00000349496.5 + 3 374 c.94G>T c.(94-96)Gac>Tac p.D32Y CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32Y|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32Y NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 32 D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GTCTTACCTGGACTCTGGAAT 0.478 D32N(KE39_STOMACH) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 5 28 --- --- --- --- PARP14 54625 broad.mit.edu 37 3 122447397 122447397 + Missense_Mutation SNP T T G TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr3:122447397T>G ENST00000474629.2 + 17 5625 c.5359T>G c.(5359-5361)Tat>Gat p.Y1787D NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1787 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) TGTGGCATTTTATGACTACCA 0.363 28 77 --- --- --- --- PCDH18 54510 broad.mit.edu 37 4 138442613 138442613 + Missense_Mutation SNP T T A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr4:138442613T>A ENST00000344876.4 - 4 3364 c.2978A>T c.(2977-2979)gAt>gTt p.D993V PCDH18_ENST00000510305.1_Missense_Mutation_p.D204V|PCDH18_ENST00000511115.1_Missense_Mutation_p.D173V|PCDH18_ENST00000412923.2_Missense_Mutation_p.D992V|PCDH18_ENST00000507846.1_Missense_Mutation_p.D772V NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 993 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AGTGTCCTCATCGTTTGGGGA 0.512 17 48 --- --- --- --- ANKH 56172 broad.mit.edu 37 5 14711384 14711384 + Silent SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr5:14711384C>T ENST00000284268.6 - 12 1731 c.1401G>A c.(1399-1401)ggG>ggA p.G467G ANKH_ENST00000535119.1_Silent_p.G269G NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 467 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 CAGAGTCTTCCCCCTCCGTGG 0.542 44 133 --- --- --- --- BEND3 57673 broad.mit.edu 37 6 107390917 107390917 + Missense_Mutation SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr6:107390917G>A ENST00000429433.2 - 5 2127 c.1478C>T c.(1477-1479)cCc>cTc p.P493L BEND3_ENST00000369042.1_Missense_Mutation_p.P493L NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 493 central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 ATCACGCGGGGGGTCGCCTTC 0.682 12 18 --- --- --- --- MTUS1 57509 broad.mit.edu 37 8 17611561 17611561 + Nonsense_Mutation SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr8:17611561G>A ENST00000381869.3 - 2 2229 c.1756C>T c.(1756-1758)Cag>Tag p.Q586* MTUS1_ENST00000262102.6_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000381862.3_Nonsense_Mutation_p.Q586* NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 586 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) TGCACAGCCTGGCTAGTAATG 0.398 8 118 --- --- --- --- ZNF782 158431 broad.mit.edu 37 9 99581089 99581089 + Nonsense_Mutation SNP T T A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr9:99581089T>A ENST00000481138.1 - 6 1877 c.1216A>T c.(1216-1218)Aag>Tag p.K406* ZNF782_ENST00000535338.1_Nonsense_Mutation_p.K274* NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) AGGCGTGACTTCTCACTGAAG 0.443 4 81 --- --- --- --- STXBP1 6812 broad.mit.edu 37 9 130438178 130438178 + Silent SNP T T C TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr9:130438178T>C ENST00000373302.3 + 14 1345 c.1206T>C c.(1204-1206)taT>taC p.Y402Y STXBP1_ENST00000373299.1_Silent_p.Y402Y|STXBP1_ENST00000481942.1_3'UTR NM_003165.3 NP_003156.1 P61764 STXB1_HUMAN syntaxin binding protein 1 402 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2) 23 TCAGCACTTATGACAAAATCC 0.512 3 28 --- --- --- --- ANAPC2 29882 broad.mit.edu 37 9 140070252 140070252 + Missense_Mutation SNP A A G TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr9:140070252A>G ENST00000323927.2 - 11 1932 c.1928T>C c.(1927-1929)cTg>cCg p.L643P ANAPC2_ENST00000487917.1_5'UTR NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 643 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) CATGGTCACCAGGCCCAGGGT 0.662 2 11 --- --- --- --- OR5M8 219484 broad.mit.edu 37 11 56258763 56258763 + Silent SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr11:56258763C>T ENST00000327216.2 - 1 108 c.84G>A c.(82-84)acG>acA p.T28T NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) CCAGAAACAGCGTGAAGAGGA 0.507 36 91 --- --- --- --- ABCC9 10060 broad.mit.edu 37 12 22012551 22012551 + Missense_Mutation SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr12:22012551G>A ENST00000261200.4 - 20 2473 c.2474C>T c.(2473-2475)gCg>gTg p.A825V ABCC9_ENST00000261201.4_Missense_Mutation_p.A825V|ABCC9_ENST00000345162.2_Missense_Mutation_p.A789V|RP11-729I10.2_ENST00000539874.1_RNA NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 825 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTGATACAGCGCTCGTGCCAC 0.403 3 80 --- --- --- --- TRIM9 114088 broad.mit.edu 37 14 51489667 51489667 + Missense_Mutation SNP A A C TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr14:51489667A>C ENST00000298355.3 - 3 2048 c.927T>G c.(925-927)agT>agG p.S309R TRIM9_ENST00000338969.5_Missense_Mutation_p.S309R|TRIM9_ENST00000360392.4_Missense_Mutation_p.S309R NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 309 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) CAAACTCCACACTGTTCTCCT 0.552 11 42 --- --- --- --- BNC1 646 broad.mit.edu 37 15 83932046 83932046 + Missense_Mutation SNP C C G TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr15:83932046C>G ENST00000345382.2 - 4 2042 c.1957G>C c.(1957-1959)Ggc>Cgc p.G653R BNC1_ENST00000569704.1_Missense_Mutation_p.G646R|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 653 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 TGTTCATGGCCACCATCCTCG 0.557 17 54 --- --- --- --- COG7 91949 broad.mit.edu 37 16 23444927 23444927 + Missense_Mutation SNP A A G TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr16:23444927A>G ENST00000307149.5 - 6 934 c.749T>C c.(748-750)cTt>cCt p.L250P NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 250 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) GAGTCCGGTAAGCTGCCGGTC 0.507 9 43 --- --- --- --- ZZEF1 23140 broad.mit.edu 37 17 3979978 3979978 + Nonsense_Mutation SNP C C A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr17:3979978C>A ENST00000381638.2 - 21 3311 c.3187G>T c.(3187-3189)Gaa>Taa p.E1063* ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1063 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 TTCAGGAGTTCTGTGAGGACG 0.532 9 16 --- --- --- --- PHF23 79142 broad.mit.edu 37 17 7140001 7140001 + Missense_Mutation SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr17:7140001G>A ENST00000320316.3 - 4 471 c.245C>T c.(244-246)tCa>tTa p.S82L PHF23_ENST00000571362.1_Intron|PHF23_ENST00000570753.1_5'UTR|PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000454255.2_Missense_Mutation_p.S78L NM_001284518.1|NM_024297.2 NP_001271447.1|NP_077273.2 Q9BUL5 PHF23_HUMAN PHD finger protein 23 82 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 TCGAAGATCTGAGGGGGCCGA 0.572 24 98 --- --- --- --- ZNF236 7776 broad.mit.edu 37 18 74592173 74592173 + Silent SNP C C A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr18:74592173C>A ENST00000253159.8 + 8 1281 c.1083C>A c.(1081-1083)ctC>ctA p.L361L ZNF236_ENST00000320610.9_Silent_p.L363L NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 361 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TCCAGCAGCTCCTGGAGCTCT 0.627 8 26 --- --- --- --- CRYBB2 1415 broad.mit.edu 37 22 25627721 25627721 + Silent SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr22:25627721C>T ENST00000398215.2 + 6 771 c.600C>T c.(598-600)gcC>gcT p.A200A NM_000496.2 NP_000487.1 P43320 CRBB2_HUMAN crystallin, beta B2 200 C-terminal arm. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 AACGTGGTGCCTTCCACCCCT 0.622 17 50 --- --- --- --- DDX26B 203522 broad.mit.edu 37 X 134709032 134709032 + Missense_Mutation SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chrX:134709032G>A ENST00000370752.4 + 13 1988 c.1654G>A c.(1654-1656)Gca>Aca p.A552T DDX26B_ENST00000481908.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 552 large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) TGTTCCAGTTGCACAAATGGG 0.413 3 58 --- --- --- --- MAGEA6 4105 broad.mit.edu 37 X 151869832 151869832 + Silent SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chrX:151869832C>T ENST00000329342.5 + 3 747 c.522C>T c.(520-522)caC>caT p.H174H NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 174 MAGE. protein binding p.H174H(1) breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CCATCGGCCACGTGTACATCT 0.532 3 60 --- --- --- ---