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_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut VSIG8 391123 broad.mit.edu 37 1 159827930 159827930 + Missense_Mutation SNP C C T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr1:159827930C>T uc001fuh.2 - 3 516 c.380G>A c.(379-381)CGG>CAG p.R127Q C1orf204_uc001fug.1_5'Flank NM_001013661 NP_001013683 Q5VU13 VSIG8_HUMAN V-set and immunoglobulin domain containing 8 127 Extracellular (Potential).|Ig-like V-type 1. integral to membrane central_nervous_system(1) 1 all_hematologic(112;0.0597) CTTCTTCACCCGGCACTCATA 0.562 NA 7 34 0 0 0 0 PTPRC 5788 broad.mit.edu 37 1 198723447 198723447 + Nonsense_Mutation SNP G G T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr1:198723447G>T uc001gur.1 + 32 3733 c.3553G>T c.(3553-3555)GAA>TAA p.E1185* PTPRC_uc001gus.1_Nonsense_Mutation_p.E1137*|PTPRC_uc001gut.1_Nonsense_Mutation_p.E1024* NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1185 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 AAATCTCTTAGAAAGTGCGGA 0.383 NA 13 31 0.00136819 0.00151071 1 0 DISP1 84976 broad.mit.edu 37 1 223177009 223177009 + Nonsense_Mutation SNP C C A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr1:223177009C>A uc001hnu.1 + 8 2417 c.2270C>A c.(2269-2271)TCG>TAG p.S757* NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 757 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) GTGTTCCGGTCGTCCCATCCT 0.463 NA 12 67 1.09e-07 1.3e-07 1 0 KIAA1217 56243 broad.mit.edu 37 10 24834796 24834796 + Missense_Mutation SNP C C T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr10:24834796C>T uc001iru.3 + 21 5778 c.5375C>T c.(5374-5376)CCT>CTT p.P1792L KIAA1217_uc001irs.2_Missense_Mutation_p.P1113L|KIAA1217_uc001irt.3_Missense_Mutation_p.P1158L|KIAA1217_uc010qcy.1_Missense_Mutation_p.P1223L|KIAA1217_uc010qcz.1_Missense_Mutation_p.P1198L|KIAA1217_uc001irw.2_3'UTR|KIAA1217_uc001irz.2_3'UTR|KIAA1217_uc001irx.2_3'UTR|KIAA1217_uc001iry.2_3'UTR NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 1792 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 GACTTTAAGCCTACTTCCCCC 0.493 NA 14 107 0 0 0 0 TDRD1 56165 broad.mit.edu 37 10 115962045 115962045 + Silent SNP G G A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr10:115962045G>A uc001lbg.1 + 6 837 c.684G>A c.(682-684)GAG>GAA p.E228E TDRD1_uc001lbf.2_Silent_p.E219E|TDRD1_uc001lbh.1_Silent_p.E219E|TDRD1_uc001lbi.1_Silent_p.E219E|TDRD1_uc010qsc.1_5'Flank|TDRD1_uc001lbj.2_5'Flank NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 228 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) AGGATGTGGAGGTAAACAATA 0.264 NA 11 21 0 0 0 0 IPO7 10527 broad.mit.edu 37 11 9445348 9445348 + Missense_Mutation SNP C C A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr11:9445348C>A uc001mho.2 + 10 1208 c.1066C>A c.(1066-1068)CCA>ACA p.P356T NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 356 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TGTTATTTTTCCATTGATGTG 0.308 NA 13 45 4.38e-07 5.16e-07 1 0 OR5M8 219484 broad.mit.edu 37 11 56258616 56258616 + Silent SNP A A G TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr11:56258616A>G uc001nix.1 - 1 231 c.231T>C c.(229-231)ACT>ACC p.T77T NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 77 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) GCATCTTTGGAGTCACATTGG 0.468 NA 8 89 0 0 0 0 OR5M8 219484 broad.mit.edu 37 11 56258645 56258645 + Missense_Mutation SNP C C G TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr11:56258645C>G uc001nix.1 - 1 202 c.202G>C c.(202-204)GTG>CTG p.V68L NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) CACAGATCCACGAAGGATAAG 0.493 NA 8 100 0 0 0 0 PRB4 5545 broad.mit.edu 37 12 11461743 11461743 + Silent SNP T T C TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr12:11461743T>C uc001qzf.1 - 3 208 c.174A>G c.(172-174)CAA>CAG p.Q58Q PRB4_uc001qzt.2_Silent_p.Q58Q NM_002723 NP_002714 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 58 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|2. extracellular region ovary(1) 1 GGGGTGGTCCTTGTGGCTTTC 0.622 NA HNSCC(22;0.051) 94 290 0 0 0 0 GRIP1 23426 broad.mit.edu 37 12 66786267 66786267 + Missense_Mutation SNP C C A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr12:66786267C>A uc001stk.2 - 18 2370 c.2129G>T c.(2128-2130)AGC>ATC p.S710I GRIP1_uc010sta.1_Missense_Mutation_p.S654I|GRIP1_uc001stj.2_Missense_Mutation_p.S492I|GRIP1_uc001stl.1_Missense_Mutation_p.S602I|GRIP1_uc001stm.2_Missense_Mutation_p.S710I NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 762 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CTTCTTGGGGCTCGATGCTGA 0.453 NA 13 99 9.31e-06 1.07e-05 1 0 POLE 5426 broad.mit.edu 37 12 133215740 133215740 + Silent SNP G G A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr12:133215740G>A uc001uks.1 - 40 5567 c.5523C>T c.(5521-5523)CTC>CTT p.L1841L POLE_uc001ukq.1_Silent_p.L51L|POLE_uc001ukr.1_Silent_p.L645L|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1841 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TCATGTTGTGGAGTGTGCGGT 0.582 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage OREG0022269 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 35 0 0 0 0 DIAPH3 81624 broad.mit.edu 37 13 60384961 60384961 + Missense_Mutation SNP G G A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr13:60384961G>A uc001vht.2 - 25 3343 c.3124C>T c.(3124-3126)CGC>TGC p.R1042C DIAPH3_uc001vhu.2_Missense_Mutation_p.R779C NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 1042 Potential. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TTTTGTTGGCGTTCGAGTCTT 0.323 NA 3 33 0 0 0 0 NALCN 259232 broad.mit.edu 37 13 101714441 101714441 + Missense_Mutation SNP C C T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr13:101714441C>T uc001vox.1 - 41 4823 c.4634G>A c.(4633-4635)CGG>CAG p.R1545Q NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1545 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity p.R1545W(1) ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CAAGCTCTTCCGGATGTCCAC 0.542 NA 13 43 0 0 0 0 TP53BP1 7158 broad.mit.edu 37 15 43705366 43705366 + Silent SNP G G A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr15:43705366G>A uc001zrs.2 - 24 5389 c.5241C>T c.(5239-5241)AGC>AGT p.S1747S TP53BP1_uc010udp.1_Silent_p.S1745S|TP53BP1_uc001zrq.3_Silent_p.S1750S|TP53BP1_uc001zrr.3_Silent_p.S1752S|TP53BP1_uc001zrp.2_Silent_p.S164S NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 1747 BRCT 1. double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GTTTGGAGCGGCTGGCCAACT 0.537 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 3 64 0 0 0 0 MAP1A 4130 broad.mit.edu 37 15 43815758 43815758 + Missense_Mutation SNP G G T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr15:43815758G>T uc001zrt.2 + 4 2554 c.2087G>T c.(2086-2088)CGG>CTG p.R696L NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 696 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CCAAGGAGCCGGGAGGCTTTT 0.547 NA 7 24 8.13e-05 9.23e-05 1 0 DUOX1 53905 broad.mit.edu 37 15 45439652 45439652 + Missense_Mutation SNP G G A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr15:45439652G>A uc001zus.1 + 20 2690 c.2344G>A c.(2344-2346)GAC>AAC p.D782N DUOX1_uc001zut.1_Missense_Mutation_p.D782N|DUOX1_uc010bee.1_Missense_Mutation_p.D162N|DUOX1_uc001zuu.2_5'Flank NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 782 Cytoplasmic (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CAACCAGGCCGACGCAGGGAC 0.637 NA 3 19 0 0 0 0 UNC13C 440279 broad.mit.edu 37 15 54542506 54542506 + Silent SNP G G A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr15:54542506G>A uc002ack.2 + 6 3312 c.3312G>A c.(3310-3312)ACG>ACA p.T1104T NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1104 Phorbol-ester/DAG-type. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGGTCTGGACGGCTACCACAC 0.493 NA 17 37 0 0 0 0 POLG 5428 broad.mit.edu 37 15 89871966 89871966 + Nonsense_Mutation SNP G G A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr15:89871966G>A uc002bns.3 - 5 1402 c.1120C>T c.(1120-1122)CGA>TGA p.R374* POLG_uc002bnr.3_Nonsense_Mutation_p.R374* NM_002693 NP_002684 P54098 DPOG1_HUMAN DNA-directed DNA polymerase gamma 374 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) AACAGTTCTCGAGGCTCCTTC 0.567 NA DNA_polymerases_(catalytic_subunits) 8 187 0 0 0 0 SEC14L5 9717 broad.mit.edu 37 16 5058627 5058627 + Missense_Mutation SNP G G T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr16:5058627G>T uc002cye.2 + 14 1958 c.1778G>T c.(1777-1779)TGC>TTC p.C593F NM_014692 NP_055507 O43304 S14L5_HUMAN SEC14-like 5 593 GOLD. integral to membrane|intracellular transporter activity 0 CCCCTTGTCTGCCGGGAGGGG 0.468 NA 22 83 1.97e-08 2.39e-08 1 0 CNOT1 23019 broad.mit.edu 37 16 58633241 58633241 + Missense_Mutation SNP T T C TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr16:58633241T>C uc002env.2 - 2 294 c.1A>G c.(1-3)ATG>GTG p.M1V CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.M1V|CNOT1_uc002enx.2_Missense_Mutation_p.M1V|CNOT1_uc002enz.1_5'UTR NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TCAAGATTCATTGCTGGTTGG 0.498 NA 20 56 0 0 0 0 AP1G1 164 broad.mit.edu 37 16 71784153 71784153 + Missense_Mutation SNP A A G TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr16:71784153A>G uc010cgg.2 - 14 1681 c.1367T>C c.(1366-1368)GTC>GCC p.V456A AP1G1_uc002fba.2_Missense_Mutation_p.V459A|AP1G1_uc002fbb.2_Missense_Mutation_p.V479A|AP1G1_uc002faz.2_5'Flank NM_001128 NP_001119 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 456 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity ovary(2) 2 Ovarian(137;0.125) CAGGCGCTGGACAGTATAGGC 0.378 NA 19 157 0 0 0 0 DSC2 1824 broad.mit.edu 37 18 28651727 28651727 + Missense_Mutation SNP C C T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr18:28651727C>T uc002kwl.3 - 13 2423 c.1969G>A c.(1969-1971)GGC>AGC p.G657S DSC2_uc002kwk.3_Missense_Mutation_p.G657S NM_024422 NP_077740 Q02487 DSC2_HUMAN desmocollin 2 isoform Dsc2a preproprotein 657 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion desmosome|integral to membrane calcium ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CTAGACATGCCAAGTCTATCT 0.408 NA 9 16 0 0 0 0 DTNA 1837 broad.mit.edu 37 18 32443990 32443990 + Silent SNP A A G TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr18:32443990A>G uc010dmn.1 + 16 1627 c.1626A>G c.(1624-1626)CTA>CTG p.L542L DTNA_uc010xbx.1_Silent_p.L292L|DTNA_uc002kxv.3_Silent_p.L485L|DTNA_uc002kxw.2_Silent_p.L485L|DTNA_uc010dmj.2_Silent_p.L482L|DTNA_uc002kxz.2_Silent_p.L482L|DTNA_uc002kxy.2_Silent_p.L482L|DTNA_uc010dml.2_Silent_p.L482L|DTNA_uc002kyb.3_Silent_p.L539L|DTNA_uc010dmm.2_Silent_p.L542L|DTNA_uc010xby.1_Silent_p.L232L|DTNA_uc010dmo.2_Silent_p.*163*|DTNA_uc002kyd.3_Silent_p.L164L|DTNA_uc010xbz.1_Silent_p.L251L|DTNA_uc010xca.1_Silent_p.L194L|DTNA_uc002kye.2_Silent_p.L190L NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 542 Potential. neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 GGAGAGAGCTAATGGTCCAGT 0.458 NA 7 8 0 0 0 0 ATP8B3 148229 broad.mit.edu 37 19 1784856 1784856 + Nonsense_Mutation SNP G G A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr19:1784856G>A uc002ltw.2 - 28 3856 c.3622C>T c.(3622-3624)CGA>TGA p.R1208* ATP8B3_uc002ltv.2_Nonsense_Mutation_p.R1171*|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 1208 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AAGATGACTCGGAGGGCCAGG 0.622 NA 3 23 0 0 0 0 ZNF792 126375 broad.mit.edu 37 19 35450296 35450296 + Missense_Mutation SNP G G T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr19:35450296G>T uc002nxh.1 - 4 850 c.463C>A c.(463-465)CCC>ACC p.P155T NM_175872 NP_787068 Q3KQV3 ZN792_HUMAN zinc finger protein 792 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TTCTGCCTGGGATGTGTTGTC 0.507 NA 76 112 3e-28 3.79e-28 1 0 CLIP3 25999 broad.mit.edu 37 19 36515479 36515479 + Missense_Mutation SNP A A G TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr19:36515479A>G uc010eeq.1 - 6 1019 c.737T>C c.(736-738)CTG>CCG p.L246P uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.L246P NM_015526 NP_056341 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 246 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TGCCTTGTCCAGGGACATGTC 0.612 NA 3 59 0 0 0 0 CIC 23152 broad.mit.edu 37 19 42793503 42793503 + Silent SNP G G A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr19:42793503G>A uc002otf.1 + 8 1345 c.1305G>A c.(1303-1305)ACG>ACA p.T435T NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 435 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) AGGACATGACGAGTGATGAGG 0.642 NA T DUX4 soft tissue sarcoma 9 22 0 0 0 0 ZFP112 7771 broad.mit.edu 37 19 44832521 44832521 + Missense_Mutation SNP G G T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr19:44832521G>T uc010ejj.2 - 5 1920 c.1807C>A c.(1807-1809)CAC>AAC p.H603N ZFP112_uc002ozc.3_Missense_Mutation_p.H597N|ZFP112_uc010xwy.1_Missense_Mutation_p.H620N|ZFP112_uc010xwz.1_Missense_Mutation_p.H602N NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 603 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 TCTCCAGTGTGAACTCTCTGA 0.478 NA 25 111 2.8e-10 3.45e-10 1 0 ZNF473 25888 broad.mit.edu 37 19 50549981 50549981 + Nonsense_Mutation SNP C C T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr19:50549981C>T uc002prn.2 + 5 2518 c.2281C>T c.(2281-2283)CAG>TAG p.Q761* ZNF473_uc002prm.2_Nonsense_Mutation_p.Q761*|ZNF473_uc010ybo.1_Nonsense_Mutation_p.Q749* NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 761 C2H2-type 17. 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 ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) TTATGTTTGTCAGGAATGCGG 0.522 NA OREG0025632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 84 0 0 0 0 SFRS7 6432 broad.mit.edu 37 2 38976812 38976812 + Missense_Mutation SNP G G A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr2:38976812G>A uc002rqz.2 - 3 483 c.245C>T c.(244-246)TCG>TTG p.S82L SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.S82L|GEMIN6_uc002rrb.2_5'Flank NM_001031684 NP_001026854 Q16629 SRSF7_HUMAN splicing factor, arginine/serine-rich 7 82 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding|zinc ion binding 0 all_hematologic(82;0.248) CATGCCTGTCGATAGTTCAAC 0.393 NA 19 41 0 0 0 0 BUB1 699 broad.mit.edu 37 2 111399701 111399701 + Missense_Mutation SNP A A C TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr2:111399701A>C uc002tgc.2 - 20 2570 c.2458T>G c.(2458-2460)TTA>GTA p.L820V BUB1_uc010yxh.1_Missense_Mutation_p.L800V|BUB1_uc010fkb.2_Missense_Mutation_p.L820V NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 820 Protein kinase. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TTTACCTTTAAAACAAATTTC 0.353 NA 3 17 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141081499 141081499 + Missense_Mutation SNP T T G TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr2:141081499T>G uc002tvj.1 - 81 13449 c.12477A>C c.(12475-12477)AAA>AAC p.K4159N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4159 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCAAAACACCTTTTGTTTTAT 0.269 NA TSP Lung(27;0.18) 15 27 0 0 0 0 KIF1A 547 broad.mit.edu 37 2 241737138 241737138 + Missense_Mutation SNP C C T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr2:241737138C>T uc002vzy.2 - 2 178 c.32G>A c.(31-33)CGG>CAG p.R11Q KIF1A_uc010fzk.2_Missense_Mutation_p.R11Q|KIF1A_uc002vzz.1_Missense_Mutation_p.R11Q NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 11 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGGGCGGACCCGCACCGCCAC 0.602 NA 6 15 0 0 0 0 SLC5A1 6523 broad.mit.edu 37 22 32498104 32498104 + Missense_Mutation SNP C C A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr22:32498104C>A uc003amc.2 + 13 1777 c.1545C>A c.(1543-1545)AGC>AGA p.S515R SLC5A1_uc011alz.1_Missense_Mutation_p.S388R NM_000343 NP_000334 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose 515 Extracellular (Potential). carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding skin(1) 1 TGGAGCCCAGCAACTGTCCCA 0.498 NA 15 130 2.32e-09 2.84e-09 1 0 ALS2CL 259173 broad.mit.edu 37 3 46728524 46728524 + Silent SNP G G A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr3:46728524G>A uc003cqa.1 - 5 673 c.483C>T c.(481-483)CAC>CAT p.H161H ALS2CL_uc003cqb.1_Silent_p.H161H|ALS2CL_uc003cqc.1_RNA NM_147129 NP_667340 Q60I27 AL2CL_HUMAN ALS2 C-terminal like isoform 1 161 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) ACTGTTGCACGTGATGGGCGA 0.677 NA 11 15 0 0 0 0 ALCAM 214 broad.mit.edu 37 3 105260531 105260531 + Missense_Mutation SNP C C T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr3:105260531C>T uc003dvx.2 + 8 1453 c.913C>T c.(913-915)CGC>TGC p.R305C ALCAM_uc003dvw.1_Missense_Mutation_p.R305C|ALCAM_uc003dvy.2_Missense_Mutation_p.R305C|ALCAM_uc011bhh.1_Missense_Mutation_p.R254C|ALCAM_uc010hpp.2_Intron|ALCAM_uc003dvz.2_5'Flank NM_001627 NP_001618 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 305 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|signal transduction integral to membrane receptor binding ovary(2)|breast(1) 3 GGATGTGAGGCGCAATGCAAC 0.423 NA 6 43 0 0 0 0 GTF2E1 2960 broad.mit.edu 37 3 120469828 120469828 + Missense_Mutation SNP G G T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr3:120469828G>T uc003edz.3 + 2 543 c.429G>T c.(427-429)CAG>CAT p.Q143H GTF2E1_uc003edy.2_Missense_Mutation_p.Q143H NM_005513 NP_005504 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, 143 C4-type (Potential). interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.159) AAGCTAATCAGCTCTTTGATC 0.353 NA 10 45 4.69e-08 5.65e-08 1 0 PLXND1 23129 broad.mit.edu 37 3 129284253 129284253 + Missense_Mutation SNP C C T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr3:129284253C>T uc003emx.2 - 25 4551 c.4451G>A c.(4450-4452)CGG>CAG p.R1484Q PLXND1_uc011blb.1_Missense_Mutation_p.R152Q NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1484 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 CTCTGTGCGCCGCAGCATGAG 0.602 NA 14 103 0 0 0 0 CAMK2D 817 broad.mit.edu 37 4 114469879 114469879 + Silent SNP A A G TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr4:114469879A>G uc003ibi.2 - 6 1207 c.348T>C c.(346-348)TGT>TGC p.C116C CAMK2D_uc003ibj.2_Silent_p.C116C|CAMK2D_uc003ibk.2_Silent_p.C116C|CAMK2D_uc003ibo.3_Intron|CAMK2D_uc003ibm.2_Silent_p.C116C|CAMK2D_uc003ibn.2_Silent_p.C116C|CAMK2D_uc003ibl.2_Silent_p.C116C NM_001221 NP_001212 Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II 116 Protein kinase. interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1) 1 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) TCTGCTGTATACAATGACTGC 0.358 NA 6 14 0 0 0 0 CDC23 8697 broad.mit.edu 37 5 137548688 137548688 + Missense_Mutation SNP T T A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr5:137548688T>A uc003lcl.2 - 2 257 c.226A>T c.(226-228)ATT>TTT p.I76F CDC23_uc003lcm.1_Missense_Mutation_p.I76F NM_004661 NP_004652 Q9UJX2 CDC23_HUMAN cell division cycle protein 23 76 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ACCTCTGTAATAGGCGGAGGC 0.438 NA 13 81 0 0 0 0 HS3ST5 222537 broad.mit.edu 37 6 114379098 114379098 + Nonsense_Mutation SNP C C A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr6:114379098C>A uc003pwg.3 - 2 396 c.364G>T c.(364-366)GAA>TAA p.E122* uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Nonsense_Mutation_p.E122* NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 122 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) AAGTGGATTTCTTGAGAGGCT 0.443 NA 16 72 1.36e-06 1.58e-06 1 0 PRKAR1B 5575 broad.mit.edu 37 7 635848 635848 + Missense_Mutation SNP C C T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr7:635848C>T uc003siu.1 - 8 749 c.643G>A c.(643-645)GTG>ATG p.V215M PRKAR1B_uc003siv.2_Missense_Mutation_p.V215M|PRKAR1B_uc003siw.1_Missense_Mutation_p.V215M|PRKAR1B_uc003six.1_RNA NM_002735 NP_002726 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type 215 cAMP 1. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity 0 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) TTGGCTTTCACGGTCGCAGCC 0.622 NA 19 63 0 0 0 0 TNRC18 84629 broad.mit.edu 37 7 5410483 5410484 + Missense_Mutation DNP GC GC TT TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr7:5410483_5410484GC>TT uc003soi.3 - 11 4090_4091 c.3741_3742GC>AA c.(3739-3744)GTGCAG>GTAAAG p.Q1248K NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 1248 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GGTGTCAGCTGCACCCCCAGGT 0.693 NA 11 31 0 0 0 0 OGDH 4967 broad.mit.edu 37 7 44737087 44737087 + Missense_Mutation SNP G G A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr7:44737087G>A uc003tln.2 + 16 2279 c.2170G>A c.(2170-2172)GGC>AGC p.G724S OGDH_uc011kbx.1_Missense_Mutation_p.G720S|OGDH_uc011kby.1_Missense_Mutation_p.G574S|OGDH_uc003tlp.2_Missense_Mutation_p.G735S|OGDH_uc011kbz.1_Missense_Mutation_p.G519S|OGDH_uc003tlo.1_Missense_Mutation_p.G557S NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 724 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) GTCTGAGTACGGCGTGCTGGG 0.597 NA 12 74 0 0 0 0 STEAP4 79689 broad.mit.edu 37 7 87913465 87913465 + Missense_Mutation SNP C C A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr7:87913465C>A uc003ujs.2 - 2 225 c.120G>T c.(118-120)CAG>CAT p.Q40H STEAP4_uc010lek.2_Missense_Mutation_p.Q40H|STEAP4_uc003ujt.2_Missense_Mutation_p.Q40H NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 40 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) AATAACCACACTGGAGCATTT 0.428 NA 9 58 7.48e-07 8.75e-07 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121691548 121691548 + Nonsense_Mutation SNP A A T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr7:121691548A>T uc003vjy.2 + 24 6546 c.6151A>T c.(6151-6153)AAG>TAG p.K2051* PTPRZ1_uc003vjz.2_Nonsense_Mutation_p.K1184*|PTPRZ1_uc011knt.1_Nonsense_Mutation_p.K641* NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 2051 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 CAACAGGGAAAAGAATCGAAC 0.348 NA 28 60 0 0 0 0 ZFHX4 79776 broad.mit.edu 37 8 77690483 77690483 + Missense_Mutation SNP T T C TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr8:77690483T>C uc003yav.2 + 4 3442 c.3055T>C c.(3055-3057)TGC>CGC p.C1019R ZFHX4_uc003yau.1_Missense_Mutation_p.C1045R|ZFHX4_uc003yaw.1_Missense_Mutation_p.C1019R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1019 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCCCGAATCCTGCTATTACTA 0.488 NA HNSCC(33;0.089) 21 151 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110477209 110477209 + Silent SNP G G T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr8:110477209G>T uc003yne.2 + 49 8252 c.8148G>T c.(8146-8148)CTG>CTT p.L2716L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2716 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTGATGAACTGGGAATGGGGT 0.473 NA HNSCC(38;0.096) 44 113 8.21e-20 1.03e-19 1 0 CSMD3 114788 broad.mit.edu 37 8 113649178 113649178 + Missense_Mutation SNP C C T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr8:113649178C>T uc003ynu.2 - 22 3742 c.3583G>A c.(3583-3585)GGG>AGG p.G1195R CSMD3_uc003yns.2_Missense_Mutation_p.G467R|CSMD3_uc003ynt.2_Missense_Mutation_p.G1155R|CSMD3_uc011lhx.1_Missense_Mutation_p.G1091R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1195 Sushi 6.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AAGTTGAACCCGATTCGACTA 0.473 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 60 0 0 0 0 KCNK9 51305 broad.mit.edu 37 8 140630972 140630972 + Silent SNP C C T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr8:140630972C>T uc003yvf.1 - 2 718 c.654G>A c.(652-654)CCG>CCA p.P218P KCNK9_uc003yvg.1_Silent_p.P218P|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 218 Extracellular (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CCACGTAGAGCGGCTTCTTCT 0.557 NA 20 99 0 0 0 0 PTPN3 5774 broad.mit.edu 37 9 112200446 112200446 + Missense_Mutation SNP C C T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr9:112200446C>T uc004bed.2 - 8 647 c.535G>A c.(535-537)GAT>AAT p.D179N PTPN3_uc004beb.2_Missense_Mutation_p.D48N|PTPN3_uc004bec.2_Missense_Mutation_p.D48N|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.D179N|PTPN3_uc011lwh.1_Missense_Mutation_p.D70N NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 179 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 TCATTTTGATCGGGTATAAAG 0.433 NA 13 49 0 0 0 0 TTLL11 158135 broad.mit.edu 37 9 124751527 124751527 + Missense_Mutation SNP C C T TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr9:124751527C>T uc004blt.1 - 4 1674 c.1486G>A c.(1486-1488)GTC>ATC p.V496I TTLL11_uc011lyl.1_Missense_Mutation_p.V496I|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Missense_Mutation_p.V173I|TTLL11_uc004blu.1_3'UTR NM_194252 NP_919228 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 496 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity 0 TGGTAGAAGACTTTGAGCTCT 0.562 NA 14 77 0 0 0 0 DMD 1756 broad.mit.edu 37 X 31200900 31200900 + Missense_Mutation SNP T T C TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chrX:31200900T>C uc004dda.1 - 68 10173 c.9929A>G c.(9928-9930)CAG>CGG p.Q3310R DMD_uc004dcq.1_Missense_Mutation_p.Q581R|DMD_uc004dcr.1_Missense_Mutation_p.Q850R|DMD_uc004dcs.1_Missense_Mutation_p.Q850R|DMD_uc004dct.1_Missense_Mutation_p.Q850R|DMD_uc004dcu.1_Missense_Mutation_p.Q850R|DMD_uc004dcv.1_Missense_Mutation_p.Q850R|DMD_uc004dcw.2_Missense_Mutation_p.Q1966R|DMD_uc004dcx.2_Missense_Mutation_p.Q1969R|DMD_uc004dcz.2_Missense_Mutation_p.Q3187R|DMD_uc004dcy.1_Missense_Mutation_p.Q3306R|DMD_uc004ddb.1_Missense_Mutation_p.Q3302R|DMD_uc004dcm.1_Missense_Mutation_p.Q242R|DMD_uc004dcn.1_Missense_Mutation_p.Q242R|DMD_uc004dco.1_Missense_Mutation_p.Q242R|DMD_uc004dcp.1_Missense_Mutation_p.Q242R|DMD_uc011mkb.1_Missense_Mutation_p.Q242R|DMD_uc010ngm.2_Missense_Mutation_p.Q242R NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 3310 Interaction with SYNM (By similarity).|ZZ-type. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ACATTTGGCCTGATGCTTGGC 0.458 NA 3 57 0 0 0 0 PPTC7 160760 broad.mit.edu 37 12 111020740 111020742 + In_Frame_Del DEL CGC CGC - TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr12:111020740_111020742delCGC uc001trh.1 - 1 323_325 c.95_97delGCG c.(94-99)GGCGAC>GAC p.G32del NM_139283 NP_644812 Q8NI37 PPTC7_HUMAN T-cell activation protein phosphatase 2C 32 Gly-rich. metal ion binding|phosphoprotein phosphatase activity 0 AGTCCGTAGTcgccgccgccgcc 0.611 NA 3 4 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7579450 7579451 + Frame_Shift_Ins INS - - G TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr17:7579450_7579451insG uc002gim.2 - 4 430_431 c.236_237insC c.(235-237)GCTfs p.A79fs TP53_uc002gig.1_Frame_Shift_Ins_p.A79fs|TP53_uc002gih.2_Frame_Shift_Ins_p.A79fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Ins_p.A79fs|TP53_uc010cni.1_Frame_Shift_Ins_p.A79fs|TP53_uc002gij.2_Frame_Shift_Ins_p.A79fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Ins_p.A40fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.A94fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 79 Interaction with WWOX.|Interaction with HRMT1L2. A -> G (in a sporadic cancer; somatic mutation).|A -> T (in a sporadic cancer; somatic mutation).|A -> V (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.A79V(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 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) CCGGTGTAGGAGCTGCTGGTGC 0.624 111 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 Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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) 80 81 --- --- --- --- NA NA NA NA HIST1H1E 3008 broad.mit.edu 37 6 26156805 26156807 + In_Frame_Del DEL AAG AAG - TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr6:26156805_26156807delAAG uc003ngq.2 + 1 247_249 c.187_189delAAG c.(187-189)AAGdel p.K64del HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN histone cluster 1, H1e 64 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding large_intestine(1)|ovary(1) 2 GGCCGCTCTCAAGAAAGCGCTGG 0.616 NA 15 49 --- --- --- --- NA NA NA NA MTO1 25821 broad.mit.edu 37 6 74176036 74176037 + Frame_Shift_Ins INS - - GT TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chr6:74176036_74176037insGT uc003pgy.3 + 2 446_447 c.322_323insGT c.(322-324)GGTfs p.G108fs MTO1_uc010kav.2_Frame_Shift_Ins_p.G108fs|MTO1_uc003pgz.3_Frame_Shift_Ins_p.G108fs|MTO1_uc003pha.3_5'UTR|MTO1_uc003phb.3_Frame_Shift_Ins_p.G34fs|MTO1_uc003phc.1_Frame_Shift_Ins_p.G34fs NM_133645 NP_598400 Q9Y2Z2 MTO1_HUMAN mitochondrial translation optimization 1 homolog 108 tRNA processing mitochondrion flavin adenine dinucleotide binding ovary(3)|skin(2)|pancreas(1) 6 TGACCAGTCTGGTGTACATTAT 0.455 NA 25 86 --- --- --- --- NA NA NA NA PPP1R3F 89801 broad.mit.edu 37 X 49137917 49137919 + In_Frame_Del DEL TGC TGC - TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9032c525-9bed-47f9-b9f2-ecce4593ea37 067eb6e6-2211-467d-993f-f16368e1da5d g.chrX:49137917_49137919delTGC uc004dnh.1 + 2 1069_1071 c.1053_1055delTGC c.(1051-1056)TTTGCC>TTC p.A352del PPP1R3F_uc011mnd.1_In_Frame_Del_p.A24del|PPP1R3F_uc004dni.2_In_Frame_Del_p.A7del|PPP1R3F_uc004dnj.1_In_Frame_Del_p.A7del NM_033215 NP_149992 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory (inhibitor) 352 Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 Ovarian(276;0.236) ATAACACCTTTGCCATGGGTAAG 0.404 NA 7 10 --- --- --- --- NA NA NA NA