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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample ARHGEF16 27237 broad.mit.edu 37 1 3394482 3394482 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:3394482G>C uc001akg.3 + 11 1765 c.1517G>C c.(1516-1518)GGA>GCA p.G506A ARHGEF16_uc001aki.2_Missense_Mutation_p.G218A|ARHGEF16_uc001akj.2_Missense_Mutation_p.G218A|ARHGEF16_uc010nzh.1_Missense_Mutation_p.G210A NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Rho guanine exchange factor 16 506 PH. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) CTGAAGCGCGGAGAGCTGTTC 0.592 NaN 0 0 0 1 0 25 46 ERRFI1 54206 broad.mit.edu 37 1 8073944 8073944 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:8073944G>C uc001aoz.2 - 4 964 c.715C>G c.(715-717)CCA>GCA p.P239A ERRFI1_uc001apa.1_Missense_Mutation_p.P164A NM_018948 NP_061821 Q9UJM3 ERRFI_HUMAN mitogen-inducible gene 6 protein 239 lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis cytoplasm|extrinsic to internal side of plasma membrane|nucleus protein kinase binding|Rho GTPase activator activity ovary(1) 1 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) GTCTGAGGTGGAGGAGGATTT 0.468 NaN 0 0 0 1 0 6 44 RERE 473 broad.mit.edu 37 1 8617577 8617577 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:8617577C>G uc001ape.2 - 6 1338 c.528G>C c.(526-528)AAG>AAC p.K176N RERE_uc001apf.2_Missense_Mutation_p.K176N|RERE_uc001aph.1_Missense_Mutation_p.K176N NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 176 BAH. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GATGGTCCCTCTTACTCTGAA 0.438 NaN 0 0 0 1 0 23 59 CTNNBIP1 56998 broad.mit.edu 37 1 9931317 9931317 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:9931317C>G uc001aqk.1 - 5 422 c.115G>C c.(115-117)GAG>CAG p.E39Q CTNNBIP1_uc001aql.1_Missense_Mutation_p.E39Q NM_020248 NP_064633 Q9NSA3 CNBP1_HUMAN catenin, beta interacting protein 1 39 anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus armadillo repeat domain binding|beta-catenin binding 0 all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) CGCAGGAACTCCTCCTCGCTG 0.652 NaN 0 0 0 1 0 2 2 C1orf127 148345 broad.mit.edu 37 1 11008292 11008292 + Missense_Mutation SNP T T C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:11008292T>C uc010oao.1 - 8 1458 c.1453A>G c.(1453-1455)AGG>GGG p.R485G C1orf127_uc001arr.1_Missense_Mutation_p.R467G|C1orf127_uc001ars.1_Missense_Mutation_p.R459G NM_173507 NP_775778 B7ZLG7 B7ZLG7_HUMAN hypothetical protein LOC148345 485 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) GCCCCCTCCCTGGGGAGACCA 0.637 NaN 0 0 0 1 0 21 76 TARDBP 23435 broad.mit.edu 37 1 11082329 11082329 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:11082329G>A uc001art.2 + 6 997 c.863G>A c.(862-864)GGA>GAA p.G288E TARDBP_uc010oap.1_Missense_Mutation_p.G172E NM_007375 NP_031401 Q13148 TADBP_HUMAN TAR DNA binding protein 288 Gly-rich. 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) AATCAGGGTGGATTTGGTAAT 0.453 NaN 0 0 0 1 0 14 73 TARDBP 23435 broad.mit.edu 37 1 11082344 11082344 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:11082344G>C uc001art.2 + 6 1012 c.878G>C c.(877-879)AGA>ACA p.R293T TARDBP_uc010oap.1_Missense_Mutation_p.R177T NM_007375 NP_031401 Q13148 TADBP_HUMAN TAR DNA binding protein 293 Gly-rich. 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) GGTAATAGCAGAGGGGGTGGA 0.483 NaN 0 0 0 1 0 11 71 CLCN6 1185 broad.mit.edu 37 1 11900229 11900229 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:11900229C>T uc001ate.3 + 23 2672 c.2559C>T c.(2557-2559)CTC>CTT p.L853L CLCN6_uc010oat.1_Silent_p.L569L|CLCN6_uc010oau.1_Silent_p.L831L|CLCN6_uc010oav.1_5'Flank|CLCN6_uc010oaw.1_5'Flank|CLCN6_uc010oax.1_5'Flank|CLCN6_uc010oay.1_5'Flank|CLCN6_uc010oaz.1_5'Flank|CLCN6_uc010oba.1_5'Flank NM_001286 NP_001277 P51797 CLCN6_HUMAN chloride channel 6 isoform ClC-6a 853 CBS 2.|Cytoplasmic (By similarity). cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GGCACAACCTCACCTATGAAT 0.587 NaN 0 0 0 1 0 39 88 VPS13D 55187 broad.mit.edu 37 1 12446370 12446370 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:12446370G>A uc001atv.2 + 60 11752 c.11611G>A c.(11611-11613)GAA>AAA p.E3871K VPS13D_uc001atw.2_Missense_Mutation_p.E3846K|VPS13D_uc001atx.2_Missense_Mutation_p.E3058K|VPS13D_uc009vnl.2_RNA NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3870 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TCACATGCTTGAACTCAGCAT 0.428 NaN 0 0 0 1 0 46 93 PRAMEF12 390999 broad.mit.edu 37 1 12836179 12836179 + Nonsense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:12836179C>T uc001aui.2 + 2 808 c.781C>T c.(781-783)CAG>TAG p.Q261* NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 261 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTTCACCTCTCAGTTCCTCAA 0.507 NaN 0 0 0 1 0 51 127 PRAMEF11 440560 broad.mit.edu 37 1 12885303 12885303 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:12885303C>T uc001auk.2 - 4 1004 c.808G>A c.(808-810)GAC>AAC p.D270N NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 270 LRR 3. 0 TGCTTCAAGTCTGATTCCAAA 0.468 NaN 0 0 0 1 0 114 300 EPHA2 1969 broad.mit.edu 37 1 16459790 16459790 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:16459790C>G uc001aya.1 - 11 2075 c.1938G>C c.(1936-1938)AAG>AAC p.K646N NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 646 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential). ATP (By similarity). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) CTTTCAGCGTCTTGATGGCCA 0.607 NaN 0 0 0 1 0 9 84 FBXO42 54455 broad.mit.edu 37 1 16641900 16641900 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:16641900G>A uc001ayg.2 - 2 230 c.14C>T c.(13-15)TCA>TTA p.S5L FBXO42_uc001ayf.2_5'UTR|FBXO42_uc001ayh.2_Missense_Mutation_p.S5L NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN F-box protein 42 5 upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) TTCACTGTCCGAGGAGCTGGC 0.458 NaN 0 0 0 1 0 8 55 KLHDC7A 127707 broad.mit.edu 37 1 18808297 18808297 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:18808297C>T uc001bax.2 + 1 874 c.822C>T c.(820-822)TTC>TTT p.F274F KLHDC7A_uc009vpg.2_Silent_p.F56F NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 274 integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) AGGAGCATTTCATACAGAAGG 0.592 NaN 0 0 0 1 0 21 133 SH2D5 400745 broad.mit.edu 37 1 21048338 21048338 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:21048338G>A uc001bdt.1 - 9 1592 c.967C>T c.(967-969)CTC>TTC p.L323F SH2D5_uc009vpy.1_Missense_Mutation_p.L407F|SH2D5_uc001bdu.1_RNA NM_001103160 NP_001096630 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 isoform 2 323 0 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AGGGGCCGGAGAGTCCGGGGC 0.701 NaN 0 0 0 1 0 5 22 HSPG2 3339 broad.mit.edu 37 1 22157765 22157765 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:22157765G>A uc001bfj.2 - 84 11545 c.11505C>T c.(11503-11505)CTC>CTT p.L3835L HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Silent_p.L3836L NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 3835 Laminin G-like 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCGTGAGGTTGAGGTCATGGA 0.687 NaN 0 0 0 1 0 11 73 CELA3A 10136 broad.mit.edu 37 1 22333440 22333440 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:22333440C>A uc001bfl.2 + 5 451 c.432C>A c.(430-432)CTC>CTA p.L144L NM_005747 NP_005738 P09093 CEL3A_HUMAN elastase 3A, pancreatic preproprotein 144 Peptidase S1. cholesterol metabolic process|digestion|proteolysis serine-type endopeptidase activity haematopoietic_and_lymphoid_tissue(1) 1 TCGCCTCACTCCCTCCCGCTG 0.617 NaN 1 0 0.00185496 1 0.00189251 14 95 LUZP1 7798 broad.mit.edu 37 1 23418777 23418777 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:23418777C>T uc001bgk.2 - 4 2362 c.1978G>A c.(1978-1980)GAT>AAT p.D660N LUZP1_uc010odv.1_Missense_Mutation_p.D660N|LUZP1_uc001bgl.2_Missense_Mutation_p.D660N|LUZP1_uc001bgm.1_Missense_Mutation_p.D660N NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 660 nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) AAGTCATCATCTGAGTCTGGC 0.478 NaN 0 0 0 1 0 79 157 CNR2 1269 broad.mit.edu 37 1 24201129 24201129 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:24201129C>A uc001bif.2 - 2 1106 c.979G>T c.(979-981)GAG>TAG p.E327* NM_001841 NP_001832 P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 327 Cytoplasmic (Potential). behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity skin(2)|central_nervous_system(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) TCTTTTGCCTCTGACCCAAGG 0.552 NaN 1 0 0.000308642 1 0.0003185 9 105 RHCE 6006 broad.mit.edu 37 1 25717274 25717274 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:25717274G>A uc001bkf.2 - 5 853 c.767C>T c.(766-768)TCA>TTA p.S256L RHCE_uc001bkg.2_Missense_Mutation_p.S256L|RHCE_uc001bkh.2_Intron|RHCE_uc001bki.2_Intron|RHCE_uc001bkj.2_Missense_Mutation_p.S240L NM_020485 NP_065231 P18577 RHCE_HUMAN Rhesus blood group, CcEe antigens isoform 1 256 Helical; (Potential). integral to plasma membrane 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) AGCCAAGGATGACCCTGAGAT 0.527 NaN 0 0 0 1 0 21 141 MAN1C1 57134 broad.mit.edu 37 1 25944772 25944772 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:25944772G>A uc001bkm.2 + 1 814 c.484G>A c.(484-486)GAT>AAT p.D162N MAN1C1_uc009vry.1_5'UTR NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 162 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(1) 1 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) AACGAGGGCCGATGAGAGTCA 0.652 NaN 0 0 0 1 0 5 15 CNKSR1 10256 broad.mit.edu 37 1 26507029 26507029 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:26507029C>T uc001bln.3 + 2 196 c.138C>T c.(136-138)CTC>CTT p.L46L CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Silent_p.L46L|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR NM_006314 NP_006305 Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 46 SAM. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging lung(1)|kidney(1) 2 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CCCAAAGCCTCGAGGCTCTGG 0.622 NaN 0 0 0 1 0 28 66 AIM1L 55057 broad.mit.edu 37 1 26650797 26650797 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:26650797C>A uc001bmd.3 - 17 1878 c.1448G>T c.(1447-1449)CGG>CTG p.R483L NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 483 sugar binding pancreas(1) 1 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) GAAATAAACCCGGCGCTGGTG 0.637 NaN 1 0 0.00909568 1 0.00919788 4 25 PTAFR 5724 broad.mit.edu 37 1 28477356 28477356 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:28477356G>A uc001bpl.2 - 2 304 c.177C>T c.(175-177)CTC>CTT p.L59L PTAFR_uc001bpm.3_Silent_p.L59L|PTAFR_uc009vte.2_Silent_p.L59L NM_000952 NP_000943 P25105 PTAFR_HUMAN platelet-activating factor receptor 59 Helical; Name=2; (Potential). chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) CCGCCATGGTGAGGTTCACCA 0.498 NaN 0 0 0 1 0 5 59 MECR 51102 broad.mit.edu 37 1 29528545 29528545 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:29528545C>A uc001brq.1 - 6 702 c.666G>T c.(664-666)CAG>CAT p.Q222H MECR_uc001brp.1_Missense_Mutation_p.Q146H|MECR_uc001brr.1_Missense_Mutation_p.Q146H|MECR_uc001brs.1_RNA|MECR_uc001brt.1_Missense_Mutation_p.Q146H|MECR_uc010ofz.1_Missense_Mutation_p.Q222H NM_016011 NP_057095 Q9BV79 MECR_HUMAN trans-2-enoyl-CoA reductase, mitochondrial 222 fatty acid biosynthetic process mitochondrion trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding ovary(1) 1 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) CACTCAGCTTCTGGATATCAG 0.512 NaN 1 0 3.66258e-25 1 4.23381e-25 78 217 TXLNA 200081 broad.mit.edu 37 1 32660659 32660659 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:32660659G>A uc001bui.2 + 11 1569 c.1504G>A c.(1504-1506)GAG>AAG p.E502K TXLNA_uc001buj.2_Missense_Mutation_p.E502K NM_175852 NP_787048 P40222 TXLNA_HUMAN taxilin 502 cell proliferation|exocytosis cytoplasm|extracellular region cytokine activity|high molecular weight B cell growth factor receptor binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CAGTGGCCCTGAGAGGAGGCC 0.642 NaN 0 0 0 1 0 23 26 YARS 8565 broad.mit.edu 37 1 33245727 33245727 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:33245727C>A uc001bvy.1 - 11 2081 c.1293G>T c.(1291-1293)ATG>ATT p.M431I YARS_uc001bvw.1_Missense_Mutation_p.M91I|YARS_uc001bvx.1_Missense_Mutation_p.M82I NM_003680 NP_003671 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 431 tRNA-binding. apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) CGACTCCTCTCATCTTCTGGG 0.577 NaN 1 0 0.00152264 1 0.00155472 22 140 CSMD2 114784 broad.mit.edu 37 1 34034982 34034982 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:34034982C>G uc001bxn.1 - 53 8158 c.8129G>C c.(8128-8130)CGC>CCC p.R2710P CSMD2_uc001bxm.1_Missense_Mutation_p.R2708P NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2710 Sushi 17.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACCAAGGCAGCGGACTTCAGA 0.522 NaN 0 0 0 1 0 11 44 ZMYM1 79830 broad.mit.edu 37 1 35579630 35579630 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:35579630C>G uc001bym.2 + 11 2347 c.2199C>G c.(2197-2199)TTC>TTG p.F733L ZMYM1_uc001byn.2_Missense_Mutation_p.F733L|ZMYM1_uc010ohu.1_Missense_Mutation_p.F714L|ZMYM1_uc001byo.2_Missense_Mutation_p.F373L|ZMYM1_uc009vut.2_Missense_Mutation_p.F658L NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 733 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CAGCAGAATTCAAGAAAGAAG 0.318 NaN 0 0 0 1 0 15 51 TEKT2 27285 broad.mit.edu 37 1 36550615 36550615 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:36550615G>C uc001bzr.2 + 2 220 c.93G>C c.(91-93)CAG>CAC p.Q31H TEKT2_uc001bzs.2_5'UTR NM_014466 NP_055281 Q9UIF3 TEKT2_HUMAN tektin 2 31 cell projection organization|microtubule cytoskeleton organization actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCCAGCTGCAGCGAGATGCTT 0.617 NaN 0 0 0 1 0 9 64 THRAP3 9967 broad.mit.edu 37 1 36766618 36766618 + Nonsense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:36766618C>G uc001cae.3 + 10 2659 c.2435C>G c.(2434-2436)TCA>TGA p.S812* THRAP3_uc001caf.3_Nonsense_Mutation_p.S812* NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 812 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(5)|lung(3)|breast(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TTTGACAAATCAAGACTGGGG 0.517 NaN T USP6 aneurysmal bone cysts 0 0 0 1 0 5 46 CSF3R 1441 broad.mit.edu 37 1 36933439 36933439 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:36933439C>T uc001caw.1 - 14 2026 c.1848G>A c.(1846-1848)CTG>CTA p.L616L CSF3R_uc001cat.1_Silent_p.L179L|CSF3R_uc009vvc.1_Silent_p.L145L|CSF3R_uc001cau.1_Silent_p.L16L|CSF3R_uc001cav.1_Silent_p.L616L|CSF3R_uc001cax.1_Silent_p.L616L|CSF3R_uc001cay.1_Silent_p.L616L NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 616 Fibronectin type-III 5.|Extracellular (Potential). cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TCAAGGTCATCAGGGTGAGGA 0.602 NaN 0 0 0 1 0 20 81 GNL2 29889 broad.mit.edu 37 1 38040350 38040350 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:38040350G>T uc001cbk.2 - 11 1381 c.1218C>A c.(1216-1218)ATC>ATA p.I406I NM_013285 NP_037417 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 406 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(586;0.0393) ATGTTTTGCTGATATATTCTG 0.413 NaN 1 0 0.000673444 1 0.000690993 9 46 GNL2 29889 broad.mit.edu 37 1 38040358 38040358 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:38040358C>A uc001cbk.2 - 11 1373 c.1210G>T c.(1210-1212)GAA>TAA p.E404* NM_013285 NP_037417 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 404 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(586;0.0393) CTGATATATTCTGGCTTTGCT 0.403 NaN 1 0 1.58986e-06 1 1.6848e-06 9 51 RHBDL2 54933 broad.mit.edu 37 1 39384788 39384788 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:39384788C>T uc001ccu.1 - 2 325 c.97G>A c.(97-99)GAT>AAT p.D33N RHBDL2_uc010oin.1_Missense_Mutation_p.D33N|RHBDL2_uc010oio.1_Missense_Mutation_p.D113N|RHBDL2_uc001ccv.2_Missense_Mutation_p.D33N NM_017821 NP_060291 Q9NX52 RHBL2_HUMAN rhomboid protease 2 33 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) CCTCCCCCATCCTCTCTCATT 0.483 NaN 0 0 0 1 0 26 109 KIAA0754 643314 broad.mit.edu 37 1 39876688 39876688 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:39876688G>A uc009vvt.1 + 1 1513 c.751G>A c.(751-753)GAA>AAA p.E251K MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 115 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGTAATGCAGGAATCCAGATT 0.502 NaN OREG0013393 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 11 37 HPCAL4 51440 broad.mit.edu 37 1 40149690 40149690 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:40149690C>T uc001cdr.2 - 3 417 c.297G>A c.(295-297)CAG>CAA p.Q99Q HPCAL4_uc010oix.1_Intron NM_016257 NP_057341 Q9UM19 HPCL4_HUMAN hippocalcin-like protein 4 99 EF-hand 3. central nervous system development intracellular calcium ion binding central_nervous_system(1) 1 all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AGTTGAGCTTCTGCTCGAAGC 0.657 NaN 0 0 0 1 0 13 47 TRIT1 54802 broad.mit.edu 37 1 40323037 40323037 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:40323037C>G uc010oiz.1 - 2 241 c.227G>C c.(226-228)AGA>ACA p.R76T TRIT1_uc001ceq.2_Intron|TRIT1_uc001cek.2_Intron|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Intron|TRIT1_uc001cen.2_Intron|TRIT1_uc001ceo.2_Intron|TRIT1_uc001cep.2_Intron NM_017646 NP_060116 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 precursor 76 tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity ovary(1) 1 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CCGGCAGATTCTCTGCTCTTG 0.448 NaN 0 0 0 1 0 6 28 PPCS 79717 broad.mit.edu 37 1 42922574 42922574 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:42922574C>T uc001chl.2 + 1 402 c.338C>T c.(337-339)TCG>TTG p.S113L ZMYND12_uc001chj.2_5'Flank|ZMYND12_uc010ojt.1_5'Flank|PPCS_uc001chk.2_Intron NM_024664 NP_078940 Q9HAB8 PPCS_HUMAN phosphopantothenoylcysteine synthetase isoform 113 coenzyme biosynthetic process|pantothenate metabolic process cytosol phosphopantothenate--cysteine ligase activity 0 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCAGCCCTTTCGGGCTTGCTG 0.647 NaN 0 0 0 1 0 20 87 KIAA0467 23334 broad.mit.edu 37 1 43908528 43908528 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:43908528G>C uc001cjk.1 + 44 5955 c.5493G>C c.(5491-5493)GAG>GAC p.E1831D NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2730 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGGAAGTGGAGACCCTCATCC 0.612 NaN 0 0 0 1 0 25 112 TMEM53 79639 broad.mit.edu 37 1 45140082 45140082 + Translation_Start_Site SNP G G T rs114472931 by1000genomes TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:45140082G>T uc001cmc.2 - 1 18 c.-18C>A c.(-20--16)CTCTG>CTATG TMEM53_uc001cmb.1_Translation_Start_Site|TMEM53_uc001cmd.2_Translation_Start_Site|TMEM53_uc009vxh.1_5'Flank|C1orf228_uc001cmf.2_5'Flank NM_024587 NP_078863 Q6P2H8 TMM53_HUMAN transmembrane protein 53 integral to membrane ovary(2) 2 Acute lymphoblastic leukemia(166;0.155) CGCCGGCCCAGAGCACGGGTC 0.682 NaN 1 0 0.00909568 1 0.00919788 4 20 TMEM69 51249 broad.mit.edu 37 1 46159475 46159475 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:46159475G>T uc001cor.1 + 3 838 c.642G>T c.(640-642)CTG>CTT p.L214L NM_016486 NP_057570 Q5SWH9 TMM69_HUMAN transmembrane protein 69 214 integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TTAAAGCCCTGAGGATAGTAG 0.368 NaN 1 0 3.51602e-12 1 3.95199e-12 20 71 C1orf190 541468 broad.mit.edu 37 1 46669164 46669164 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:46669164G>C uc010oma.1 + 1 159 c.66G>C c.(64-66)AAG>AAC p.K22N POMGNT1_uc001cpg.2_Intron|POMGNT1_uc001cpf.2_Intron NM_001013615 NP_001013633 Q96LR2 CA190_HUMAN hypothetical protein LOC541468 22 positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(166;0.155) TGGGCAGGAAGACCCCTGAAG 0.692 NaN 0 0 0 1 0 7 46 LRRC41 10489 broad.mit.edu 37 1 46768814 46768814 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:46768814G>A uc001cpn.2 - 1 225 c.181C>T c.(181-183)CTG>TTG p.L61L LRRC41_uc010omb.1_Silent_p.L61L|LRRC41_uc001cpo.1_Silent_p.L61L|UQCRH_uc001cpp.2_5'Flank|UQCRH_uc001cpq.2_5'Flank NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 61 ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) CCGCTCTCCAGAACCCCCATA 0.567 NaN 0 0 0 1 0 3 3 CYP4B1 1580 broad.mit.edu 37 1 47284418 47284418 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:47284418C>T uc001cqm.3 + 12 1552 c.1468C>T c.(1468-1470)CTT>TTT p.L490F CYP4B1_uc001cqn.3_Missense_Mutation_p.L491F|CYP4B1_uc009vym.2_Missense_Mutation_p.L476F|CYP4B1_uc010omk.1_Missense_Mutation_p.L327F NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 490 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) GATGCCCCAGCTTGTCCTGCG 0.577 NaN 0 0 0 1 0 27 96 EPS15 2060 broad.mit.edu 37 1 51934202 51934202 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:51934202C>T uc001csq.1 - 5 344 c.252G>A c.(250-252)CAG>CAA p.Q84Q EPS15_uc009vyz.1_Silent_p.Q84Q NM_001981 NP_001972 P42566 EPS15_HUMAN epidermal growth factor receptor pathway 84 EH 1. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding lung(1)|kidney(1) 2 CCAATCCATTCTGGGCACATG 0.358 NaN T MLL ALL 0 0 0 1 0 9 53 ZCCHC11 23318 broad.mit.edu 37 1 52940569 52940569 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:52940569C>A uc001ctx.2 - 13 2896 c.2662G>T c.(2662-2664)GAT>TAT p.D888Y ZCCHC11_uc001cty.2_Missense_Mutation_p.D888Y|ZCCHC11_uc001ctz.2_Missense_Mutation_p.D888Y|ZCCHC11_uc009vze.1_Missense_Mutation_p.D888Y|ZCCHC11_uc009vzf.1_Missense_Mutation_p.D647Y|ZCCHC11_uc001cub.2_Missense_Mutation_p.D888Y NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 888 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 AGGTTATCATCATCATTAAGG 0.378 NaN 1 0 1.7881e-09 1 1.96769e-09 29 45 ZCCHC11 23318 broad.mit.edu 37 1 52940929 52940929 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:52940929C>T uc001ctx.2 - 13 2536 c.2302G>A c.(2302-2304)GAA>AAA p.E768K ZCCHC11_uc001cty.2_Missense_Mutation_p.E768K|ZCCHC11_uc001ctz.2_Missense_Mutation_p.E768K|ZCCHC11_uc009vze.1_Missense_Mutation_p.E768K|ZCCHC11_uc009vzf.1_Missense_Mutation_p.E527K|ZCCHC11_uc001cub.2_Missense_Mutation_p.E768K NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 768 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 CAGTCCATTTCATCACATTGA 0.388 NaN 0 0 0 1 0 45 102 ZCCHC11 23318 broad.mit.edu 37 1 52941053 52941053 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:52941053C>G uc001ctx.2 - 13 2412 c.2178G>C c.(2176-2178)GAG>GAC p.E726D ZCCHC11_uc001cty.2_Missense_Mutation_p.E726D|ZCCHC11_uc001ctz.2_Missense_Mutation_p.E726D|ZCCHC11_uc009vze.1_Missense_Mutation_p.E726D|ZCCHC11_uc009vzf.1_Missense_Mutation_p.E485D|ZCCHC11_uc001cub.2_Missense_Mutation_p.E726D NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 726 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 TTTTCCCCTTCTCTCTTTTCT 0.398 NaN 0 0 0 1 0 40 116 ZCCHC11 23318 broad.mit.edu 37 1 52941062 52941062 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:52941062C>T uc001ctx.2 - 13 2403 c.2169G>A c.(2167-2169)AAG>AAA p.K723K ZCCHC11_uc001cty.2_Silent_p.K723K|ZCCHC11_uc001ctz.2_Silent_p.K723K|ZCCHC11_uc009vze.1_Silent_p.K723K|ZCCHC11_uc009vzf.1_Silent_p.K482K|ZCCHC11_uc001cub.2_Silent_p.K723K NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 723 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 TCTCTCTTTTCTTGAAATCCA 0.403 NaN 0 0 0 1 0 39 110 YIPF1 54432 broad.mit.edu 37 1 54348950 54348950 + Splice_Site SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:54348950C>T uc001cvu.2 - 4 369 c.32_splice c.e4-1 p.E11_splice YIPF1_uc001cvv.2_Splice_Site|YIPF1_uc001cvw.2_Intron|YIPF1_uc001cvx.2_Splice_Site|YIPF1_uc001cvy.2_Splice_Site NM_018982 NP_061855 Q9Y548 YIPF1_HUMAN Yip1 domain family, member 1 integral to membrane|transport vesicle large_intestine(1)|ovary(1) 2 TTGCCAAATTCTGAAATCAAT 0.453 NaN 0 0 0 1 0 7 34 DIO1 1733 broad.mit.edu 37 1 54359913 54359913 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:54359913G>A uc010onx.1 + 1 53 c.30G>A c.(28-30)CTG>CTA p.L10L DIO1_uc010onw.1_Silent_p.L10L|DIO1_uc009vzl.2_Silent_p.L10L|DIO1_uc001cwb.2_Silent_p.L10L|DIO1_uc010ony.1_Silent_p.L10L|DIO1_uc001cwd.2_RNA|DIO1_uc001cwe.2_RNA|DIO1_uc001cwf.2_RNA|DIO1_uc001cwg.2_RNA NM_000792 NP_000783 P49895 IOD1_HUMAN deiodinase, iodothyronine, type I isoform a 10 hormone biosynthetic process|thyroid hormone generation endoplasmic reticulum membrane|integral to membrane|plasma membrane selenium binding|thyroxine 5'-deiodinase activity 0 GGCTGTGGCTGAAGAGGCTCT 0.587 NaN 0 0 0 1 0 12 48 TTC22 55001 broad.mit.edu 37 1 55266753 55266753 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:55266753C>T uc009vzt.1 - 1 189 c.84G>A c.(82-84)GAG>GAA p.E28E TTC22_uc001cxz.3_Silent_p.E28E NM_001114108 NP_001107580 Q5TAA0 TTC22_HUMAN tetratricopeptide repeat domain 22 isoform 1 28 binding 0 TCAACTGCATCTCCAGGTGAA 0.687 NaN 0 0 0 1 0 9 25 JUN 3725 broad.mit.edu 37 1 59248200 59248200 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:59248200C>T uc001cze.2 - 1 1586 c.543G>A c.(541-543)CTG>CTA p.L181L uc001czf.2_5'Flank|uc010oop.1_5'Flank NM_002228 NP_002219 P05412 JUN_HUMAN jun oncogene 181 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding 0 all_cancers(7;8.55e-07) Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570) CGCCGCTGCTCAGCGCGCCTG 0.746 NaN A sarcoma 0 0 0 1 0 3 5 DOCK7 85440 broad.mit.edu 37 1 63003725 63003725 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:63003725G>A uc001daq.2 - 28 3342 c.3308C>T c.(3307-3309)TCA>TTA p.S1103L DOCK7_uc001dan.2_Missense_Mutation_p.S964L|DOCK7_uc001dao.2_Missense_Mutation_p.S964L|DOCK7_uc001dap.2_Missense_Mutation_p.S1072L|DOCK7_uc001dam.2_Missense_Mutation_p.S283L|DOCK7_uc010oov.1_5'Flank NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1103 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 GTAAAGCTTTGAAGACACCTT 0.348 NaN 0 0 0 1 0 11 83 DEPDC1 55635 broad.mit.edu 37 1 68948008 68948008 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:68948008C>T uc001dem.3 - 8 1600 c.1483G>A c.(1483-1485)GAG>AAG p.E495K DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron NM_001114120 NP_001107592 Q5TB30 DEP1A_HUMAN DEP domain containing 1 isoform a 495 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) CACAACTCCTCTTGGTCTTGA 0.368 NaN 0 0 0 1 0 19 74 LRRIQ3 127255 broad.mit.edu 37 1 74492542 74492542 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:74492542C>T uc001dfy.3 - 8 2022 c.1830G>A c.(1828-1830)GTG>GTA p.V610V LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 610 Potential. ovary(2) 2 AATTTGTTTTCACAATTGCTA 0.284 NaN 0 0 0 1 0 6 41 C1orf173 127254 broad.mit.edu 37 1 75065508 75065508 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:75065508C>T uc001dgg.2 - 11 1816 c.1597G>A c.(1597-1599)GAT>AAT p.D533N uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.D327N NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 533 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TCTTTTTTATCATCCAAAGGT 0.398 NaN 0 0 0 1 0 58 115 TYW3 127253 broad.mit.edu 37 1 75198988 75198988 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:75198988C>T uc001dgn.2 + 1 149 c.60C>T c.(58-60)CTC>CTT p.L20L CRYZ_uc001dgk.2_5'UTR|CRYZ_uc001dgj.2_5'UTR|CRYZ_uc001dgl.2_5'UTR|CRYZ_uc001dgm.2_5'UTR|TYW3_uc010oqw.1_Silent_p.L20L|TYW3_uc010oqx.1_Silent_p.L20L|TYW3_uc010oqy.1_RNA NM_138467 NP_612476 Q6IPR3 TYW3_HUMAN tRNA-yW synthesizing protein 3 homolog isoform 20 tRNA processing methyltransferase activity ovary(2) 2 AAGCGGACCTCAGCCGGAAGG 0.572 NaN 0 0 0 1 0 11 27 DDAH1 23576 broad.mit.edu 37 1 85787136 85787136 + Nonstop_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:85787136C>G uc001dlb.2 - 6 1018 c.857G>C c.(856-858)TGA>TCA p.*286S DDAH1_uc001dlc.2_Nonstop_Mutation_p.*183S|uc001dla.1_Intron|DDAH1_uc010osb.1_Nonstop_Mutation_p.*186S|DDAH1_uc009wco.2_Nonstop_Mutation_p.*183S NM_012137 NP_036269 O94760 DDAH1_HUMAN dimethylarginine dimethylaminohydrolase 1 286 arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction dimethylargininase activity|metal ion binding 0 all cancers(265;0.0318)|Epithelial(280;0.0657) L-Citrulline(DB00155) CTCTGCAGCTCAGGAGTCTAC 0.532 NaN 0 0 0 1 0 12 43 LMO4 8543 broad.mit.edu 37 1 87797934 87797934 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:87797934G>C uc001dmi.2 + 2 1016 c.236G>C c.(235-237)AGG>ACG p.R79T LMO4_uc001dmj.2_Missense_Mutation_p.R79T NM_006769 NP_006760 P61968 LMO4_HUMAN LIM domain only 4 79 LIM zinc-binding 1. neural tube closure|transcription from RNA polymerase II promoter transcription factor complex sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding 0 Lung NSC(277;0.179) all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153) GACTACATTAGGTAAGACTTT 0.537 NaN 0 0 0 1 0 18 19 ABCA4 24 broad.mit.edu 37 1 94496677 94496677 + Splice_Site SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:94496677C>G uc001dqh.2 - 28 4233 c.4129_splice c.e28-1 p.I1377_splice NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGAGCACGATCTGTGGGAGAA 0.473 NaN 0 0 0 1 0 9 25 HIAT1 64645 broad.mit.edu 37 1 100533744 100533744 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:100533744C>G uc001dst.2 + 6 698 c.698C>G c.(697-699)CCT>CGT p.P233R NM_033055 NP_149044 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 233 Extracellular (Potential). transmembrane transport integral to membrane|plasma membrane transporter activity 0 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) CAAGCTGACCCTTTTGCGGTA 0.413 NaN 0 0 0 1 0 6 34 COL11A1 1301 broad.mit.edu 37 1 103540254 103540254 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:103540254C>T uc001dul.2 - 4 889 c.571G>A c.(571-573)GAT>AAT p.D191N COL11A1_uc001dum.2_Missense_Mutation_p.D191N|COL11A1_uc001dun.2_Missense_Mutation_p.D191N|COL11A1_uc009weh.2_Missense_Mutation_p.D191N NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 191 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCACTTCTATCAAGTGGTTTC 0.368 NaN 0 0 0 1 0 21 37 FAM102B 284611 broad.mit.edu 37 1 109103119 109103119 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:109103119C>T uc010ouy.1 + 1 149 c.69C>T c.(67-69)TTC>TTT p.F23F NM_001010883 NP_001010883 Q5T8I3 F102B_HUMAN hypothetical protein LOC284611 23 large_intestine(1) 1 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) CAGTGCCCTTCGTCAATGGGG 0.607 NaN 0 0 0 1 0 8 33 TAF13 6884 broad.mit.edu 37 1 109617651 109617651 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:109617651C>A uc001dwm.1 - 2 119 c.64G>T c.(64-66)GAA>TAA p.E22* NM_005645 NP_005636 Q15543 TAF13_HUMAN TBP-associated factor 13 22 transcription elongation from RNA polymerase II promoter|viral reproduction transcription factor TFIID complex protein C-terminus binding|sequence-specific DNA binding transcription factor activity 0 all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228) TGTCCACCTTCTGCACCTCCT 0.294 NaN 1 0 9.39024e-22 1 1.08151e-21 41 239 MAGI3 260425 broad.mit.edu 37 1 114226264 114226264 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:114226264C>G uc001edk.2 + 21 4255 c.4074C>G c.(4072-4074)ATC>ATG p.I1358M MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 1383 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGAAAAAAATCAAAAGAATGG 0.368 NaN 0 0 0 1 0 4 22 DCLRE1B 64858 broad.mit.edu 37 1 114454730 114454730 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:114454730C>T uc001eeg.2 + 4 1687 c.1516C>T c.(1516-1518)CTG>TTG p.L506L DCLRE1B_uc001eeh.2_Intron|DCLRE1B_uc001eei.2_Silent_p.L380L NM_022836 NP_073747 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B (PSO2 homolog, S. 506 TBM. L->A: Abolishes interaction with TERF2. cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding 0 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAAATATCTTCTGACTCCAGT 0.498 NaN Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 1 0 26 129 CASQ2 845 broad.mit.edu 37 1 116260464 116260464 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:116260464G>A uc001efx.3 - 8 1099 c.835C>T c.(835-837)CCA>TCA p.P279S CASQ2_uc010owu.1_Missense_Mutation_p.P208S NM_001232 NP_001223 O14958 CASQ2_HUMAN cardiac calsequestrin 2 precursor 279 heart development|striated muscle contraction sarcoplasmic reticulum lumen calcium ion binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TTCCTACCTGGATCACTCTTC 0.453 NaN 0 0 0 1 0 18 110 CD101 9398 broad.mit.edu 37 1 117564240 117564240 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:117564240C>A uc010oxb.1 + 7 2121 c.2063C>A c.(2062-2064)TCC>TAC p.S688Y CD101_uc009whd.2_Missense_Mutation_p.S688Y|CD101_uc010oxc.1_Missense_Mutation_p.S688Y|CD101_uc010oxd.1_Missense_Mutation_p.S626Y NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 688 Ig-like C2-type 6.|Extracellular (Potential). cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 CAAGAGCTCTCCATCAACTCC 0.343 NaN 1 0 0.184627 1 0.184921 5 32 HSD3B1 3283 broad.mit.edu 37 1 120054248 120054248 + Missense_Mutation SNP G G A rs6684974 byFrequency TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:120054248G>A uc001ehv.1 + 3 413 c.268G>A c.(268-270)GGT>AGT p.G90S HSD3B1_uc001ehw.2_Missense_Mutation_p.G92S NM_000862 NP_000853 P14060 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase 1 90 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) TGATGTCTTCGGTGTCACTCA 0.502 NaN 0 0 0 1 0 20 95 PDE4DIP 9659 broad.mit.edu 37 1 144882612 144882612 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:144882612G>A uc001elw.3 - 24 3698 c.3407C>T c.(3406-3408)CCA>CTA p.P1136L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.P143L NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1136 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AAGGAGCTCTGGAGTAAGTTT 0.463 NaN T PDGFRB MPD 0 0 0 1 0 53 312 BOLA1 51027 broad.mit.edu 37 1 149871751 149871751 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:149871751G>T uc001etf.2 + 2 260 c.139G>T c.(139-141)GAG>TAG p.E47* NM_016074 NP_057158 Q9Y3E2 BOLA1_HUMAN bolA-like 1 47 extracellular region protein binding ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CCTGAGCCCCGAGGTGCTAGA 0.677 NaN 1 0 1.12685e-05 1 1.18122e-05 8 59 C1orf51 148523 broad.mit.edu 37 1 150259019 150259019 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:150259019C>T uc001euh.2 + 6 947 c.811C>T c.(811-813)CTC>TTC p.L271F C1orf51_uc001eui.2_Missense_Mutation_p.L183F|C1orf51_uc001euj.2_Missense_Mutation_p.L271F NM_144697 NP_653298 Q8N365 CA051_HUMAN hypothetical protein LOC148523 271 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CAACCCCCCTCTCAGCTCCCC 0.522 NaN 0 0 0 1 0 21 180 C1orf51 148523 broad.mit.edu 37 1 150259021 150259021 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:150259021C>T uc001euh.2 + 6 949 c.813C>T c.(811-813)CTC>CTT p.L271L C1orf51_uc001eui.2_Silent_p.L183L|C1orf51_uc001euj.2_Silent_p.L271L NM_144697 NP_653298 Q8N365 CA051_HUMAN hypothetical protein LOC148523 271 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) ACCCCCCTCTCAGCTCCCCAG 0.527 NaN 0 0 0 1 0 16 185 TARS2 80222 broad.mit.edu 37 1 150463082 150463082 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:150463082C>G uc001euq.2 + 4 400 c.393C>G c.(391-393)TTC>TTG p.F131L TARS2_uc010pcd.1_Intron|TARS2_uc001eur.2_Missense_Mutation_p.F131L|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Missense_Mutation_p.F131L NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 131 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CCCAGGTGTTCTGGCACTCCA 0.488 NaN 0 0 0 1 0 22 125 HORMAD1 84072 broad.mit.edu 37 1 150676602 150676602 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:150676602G>C uc001evk.1 - 12 1046 c.940C>G c.(940-942)CAT>GAT p.H314D HORMAD1_uc001evl.1_Missense_Mutation_p.H307D|HORMAD1_uc001evm.1_Missense_Mutation_p.H234D NM_032132 NP_115508 Q86X24 HORM1_HUMAN HORMA domain containing 1 314 blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) ACCTGAGAATGAGAAATAGAA 0.308 NaN 0 0 0 1 0 13 10 SETDB1 9869 broad.mit.edu 37 1 150936790 150936790 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:150936790G>C uc001evu.2 + 22 4016 c.3826G>C c.(3826-3828)GAG>CAG p.E1276Q SETDB1_uc001evv.2_Missense_Mutation_p.E1275Q NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 1276 Post-SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GGAAGGCAAGGAGCTACTCTG 0.507 NaN 0 0 0 1 0 10 60 PIP5K1A 8394 broad.mit.edu 37 1 151214948 151214948 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:151214948G>C uc001exj.2 + 14 1997 c.1545G>C c.(1543-1545)CAG>CAC p.Q515H PIP5K1A_uc001exi.2_Missense_Mutation_p.Q502H|PIP5K1A_uc010pcu.1_Missense_Mutation_p.Q475H|PIP5K1A_uc001exk.2_Missense_Mutation_p.Q453H|PIP5K1A_uc010pcv.1_Intron NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 515 phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) TTTTACCTCAGACTCCACCTT 0.458 NaN 0 0 0 1 0 37 132 ZNF687 57592 broad.mit.edu 37 1 151259814 151259814 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:151259814C>T uc001exq.2 + 2 1145 c.1047C>T c.(1045-1047)GTC>GTT p.V349V ZNF687_uc001exp.1_Silent_p.V358V|ZNF687_uc009wmo.2_Silent_p.V349V|ZNF687_uc009wmp.2_Silent_p.V349V NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TAACTCAGGTCCCCTCAGATC 0.562 NaN 0 0 0 1 0 39 60 LINGO4 339398 broad.mit.edu 37 1 151773919 151773919 + Missense_Mutation SNP C C T rs143154971 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:151773919C>T uc001ezf.1 - 2 1452 c.1262G>A c.(1261-1263)CGA>CAA p.R421Q NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 421 Extracellular (Potential).|Ig-like C2-type. integral to membrane large_intestine(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AATGACCCATCGAGGCCCCGA 0.607 NaN 0 0 0 1 0 13 126 TCHH 7062 broad.mit.edu 37 1 152083292 152083292 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:152083292C>A uc001ezp.2 - 2 2401 c.2401G>T c.(2401-2403)GAG>TAG p.E801* TCHH_uc009wne.1_Nonsense_Mutation_p.E801* NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 801 keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGCGCTCCTCGGCCCTCAGC 0.682 NaN 1 0 2.23348e-06 1 2.36288e-06 16 95 FLG 2312 broad.mit.edu 37 1 152279889 152279889 + Missense_Mutation SNP A A C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:152279889A>C uc001ezu.1 - 3 7509 c.7473T>G c.(7471-7473)CAT>CAG p.H2491Q NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2491 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGGCTGTGATGAGACCCTG 0.542 NaN Ichthyosis 0 0 0 1 0 186 609 NUP210L 91181 broad.mit.edu 37 1 154076593 154076593 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:154076593G>A uc001fdw.2 - 13 1786 c.1714C>T c.(1714-1716)CAC>TAC p.H572Y NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.H572Y NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 572 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TTATTTATGTGATACATTGCA 0.388 NaN 0 0 0 1 0 20 126 ADAR 103 broad.mit.edu 37 1 154573729 154573729 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:154573729C>T uc001ffh.2 - 2 1589 c.1389G>A c.(1387-1389)TTG>TTA p.L463L ADAR_uc001ffj.2_Silent_p.L463L|ADAR_uc001ffi.2_Silent_p.L463L|ADAR_uc001ffk.2_Silent_p.L168L|ADAR_uc001ffl.1_Silent_p.L168L NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 463 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) GGATACTATTCAAGTCATCTG 0.498 NaN 0 0 0 1 0 8 68 TRIM46 80128 broad.mit.edu 37 1 155149435 155149435 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:155149435G>A uc001fhs.1 + 4 780 c.697G>A c.(697-699)GAG>AAG p.E233K RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.E220K|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.E233K|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.E107K|TRIM46_uc001fhu.1_Missense_Mutation_p.E210K|TRIM46_uc009wpg.1_Missense_Mutation_p.E220K|TRIM46_uc001fhv.3_Missense_Mutation_p.E220K|TRIM46_uc001fhw.1_RNA NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN tripartite motif-containing 46 233 B box-type. intracellular zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCACAAGGAAGAGGTGACCCA 0.557 NaN OREG0013855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 50 93 RUSC1 23623 broad.mit.edu 37 1 155294700 155294700 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:155294700G>A uc001fkj.2 + 3 1651 c.1422G>A c.(1420-1422)CAG>CAA p.Q474Q RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Silent_p.Q474Q|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Silent_p.Q5Q|RUSC1_uc001fkl.2_Silent_p.Q64Q|RUSC1_uc001fkp.2_Silent_p.Q5Q|RUSC1_uc001fkq.2_Silent_p.Q5Q|RUSC1_uc010pgb.1_Silent_p.Q5Q|RUSC1_uc009wqp.1_5'UTR|RUSC1_uc001fkn.2_Intron|RUSC1_uc001fko.2_Intron|RUSC1_uc001fkr.2_Silent_p.Q5Q|RUSC1_uc001fks.2_5'Flank NM_001105203 NP_001098673 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 isoform a 474 cytoplasm|nucleolus SH3/SH2 adaptor activity ovary(2) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) CAGAAGCCCAGAGTGGGACTG 0.642 NaN OREG0013860 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 34 122 FCRL2 79368 broad.mit.edu 37 1 157738293 157738293 + Missense_Mutation SNP A A G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:157738293A>G uc001fre.2 - 5 853 c.794T>C c.(793-795)GTG>GCG p.V265A FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.V265A|FCRL2_uc009wsp.2_Intron NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 265 Ig-like C2-type 3.|Extracellular (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ACTCTCTTTCACAGCTGGGAT 0.507 NaN 0 0 0 1 0 56 247 CD1B 910 broad.mit.edu 37 1 158299235 158299235 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:158299235C>A uc001frx.2 - 4 919 c.811G>T c.(811-813)GAT>TAT p.D271Y CD1B_uc001frw.2_Intron NM_001764 NP_001755 P29016 CD1B_HUMAN CD1B antigen precursor 271 Extracellular (Potential).|Ig-like. antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding ovary(2) 2 all_hematologic(112;0.0378) GCCTCCCCATCTGCCACATCC 0.592 NaN 1 0 3.27435e-08 1 3.53832e-08 12 235 SPTA1 6708 broad.mit.edu 37 1 158607885 158607885 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:158607885C>G uc001fst.1 - 36 5326 c.5127G>C c.(5125-5127)TTG>TTC p.L1709F NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1709 Spectrin 16. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AGGCCTCTTTCAATTTTTCGT 0.423 NaN 0 0 0 1 0 16 186 OR6N2 81442 broad.mit.edu 37 1 158746673 158746673 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:158746673G>A uc010pir.1 - 1 753 c.753C>T c.(751-753)TTC>TTT p.F251F NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 251 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) TGCTCCCAAAGAAGATGAGGA 0.458 NaN 0 0 0 1 0 9 115 KCNJ9 3765 broad.mit.edu 37 1 160054012 160054012 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:160054012C>T uc001fuy.1 + 2 434 c.192C>T c.(190-192)TTC>TTT p.F64F NM_004983 NP_004974 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel subfamily 64 Helical; Name=M1; (By similarity). synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding ovary(1)|skin(1) 2 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGTTGTTCTTCGTCCTGGCCT 0.657 NaN 0 0 0 1 0 7 46 PPOX 5498 broad.mit.edu 37 1 161138284 161138284 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:161138284C>T uc001fyj.2 + 6 824 c.534C>T c.(532-534)CTC>CTT p.L178L PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Silent_p.L178L|PPOX_uc001fyl.2_Silent_p.L144L|PPOX_uc001fym.2_Intron|PPOX_uc001fyk.2_Silent_p.L16L|PPOX_uc001fyh.2_Silent_p.L16L|PPOX_uc010pkg.1_Silent_p.L16L|PPOX_uc009wuc.1_Silent_p.L16L|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Silent_p.L16L NM_001122764 NP_001116236 P50336 PPOX_HUMAN protoporphyrinogen oxidase 178 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity ovary(1) 1 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GCCGTGAGCTCAGCATCAGGT 0.542 NaN Porphyria_Variegata 0 0 0 1 0 17 232 PPOX 5498 broad.mit.edu 37 1 161139803 161139803 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:161139803C>G uc001fyj.2 + 9 1266 c.976C>G c.(976-978)CTG>GTG p.L326V PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Missense_Mutation_p.L326V|PPOX_uc001fyl.2_Missense_Mutation_p.L292V|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Missense_Mutation_p.L164V|PPOX_uc001fyh.2_Missense_Mutation_p.L164V|PPOX_uc010pkg.1_Missense_Mutation_p.L164V|PPOX_uc009wuc.1_Missense_Mutation_p.L164V|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Missense_Mutation_p.L164V NM_001122764 NP_001116236 P50336 PPOX_HUMAN protoporphyrinogen oxidase 326 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity ovary(1) 1 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AGGAGCCCATCTGCCTGTCCA 0.383 NaN Porphyria_Variegata 0 0 0 1 0 10 58 PPOX 5498 broad.mit.edu 37 1 161140823 161140823 + Splice_Site SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:161140823G>C uc001fyj.2 + 13 1582 c.1292_splice c.e13-1 p.E431_splice PPOX_uc001fyn.2_Splice_Site_p.E139_splice|PPOX_uc001fyg.2_Splice_Site_p.E431_splice|PPOX_uc001fyl.2_Splice_Site_p.E397_splice|PPOX_uc001fym.2_Splice_Site|PPOX_uc001fyk.2_Splice_Site_p.E269_splice|PPOX_uc001fyh.2_Splice_Site_p.E269_splice|PPOX_uc010pkg.1_Splice_Site_p.E269_splice|PPOX_uc009wuc.1_Splice_Site_p.E232_splice|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron NM_001122764 NP_001116236 P50336 PPOX_HUMAN protoporphyrinogen oxidase heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity ovary(1) 1 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TTTCCTTCCAGAGTCAGCTAG 0.517 NaN Porphyria_Variegata 0 0 0 1 0 35 350 SDHC 6391 broad.mit.edu 37 1 161298268 161298268 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:161298268C>A uc001gag.2 + 3 190 c.160C>A c.(160-162)CCC>ACC p.P54T SDHC_uc001gai.2_Missense_Mutation_p.P54T|SDHC_uc001gaj.2_Intron|SDHC_uc001gak.2_Intron|SDHC_uc001gah.2_Intron NM_003001 NP_002992 Q99643 C560_HUMAN succinate dehydrogenase complex, subunit C 54 Mitochondrial matrix (By similarity). respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex electron carrier activity|heme binding|succinate dehydrogenase activity 0 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Succinic acid(DB00139) TCCTCTGTCTCCCCACATTAC 0.443 NaN Mis|N|F paraganglioma|pheochromocytoma Familial_Paragangliomas|Carney-Stratakis_syndrome 1 0 3.35115e-56 1 3.90244e-56 122 75 ADCY10 55811 broad.mit.edu 37 1 167815465 167815465 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:167815465G>A uc001ger.2 - 20 2772 c.2474C>T c.(2473-2475)TCC>TTC p.S825F ADCY10_uc009wvk.2_Missense_Mutation_p.S733F|ADCY10_uc010plj.1_Missense_Mutation_p.S672F|ADCY10_uc009wvl.2_Missense_Mutation_p.S824F NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 825 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 CATTTGGTGGGAAAGTCTCAT 0.418 NaN 0 0 0 1 0 32 278 PRDX6 9588 broad.mit.edu 37 1 173454569 173454569 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:173454569C>T uc001giy.1 + 3 373 c.322C>T c.(322-324)CGG>TGG p.R108W NM_004905 NP_004896 P30041 PRDX6_HUMAN peroxiredoxin 6 108 Thioredoxin. cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding central_nervous_system(1) 1 TGATAGGAATCGGGAGCTTGC 0.448 NaN 0 0 0 1 0 25 66 SLC9A11 284525 broad.mit.edu 37 1 173486775 173486775 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:173486775C>A uc001giz.2 - 23 3231 c.2808G>T c.(2806-2808)ATG>ATT p.M936I SLC9A11_uc009wwe.2_Missense_Mutation_p.M494I NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 936 cNMP. sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 ACTCTGTAAACATGTCTCTGG 0.403 NaN 1 0 3.27435e-08 1 3.53832e-08 15 123 CEP350 9857 broad.mit.edu 37 1 179989239 179989239 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:179989239C>G uc001gnt.2 + 12 2713 c.2330C>G c.(2329-2331)TCT>TGT p.S777C CEP350_uc009wxl.2_Missense_Mutation_p.S776C|CEP350_uc001gnu.2_Missense_Mutation_p.S611C NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 777 centrosome|nucleus|spindle ovary(4) 4 GATTTTGAATCTATTTTACCA 0.408 NaN 0 0 0 1 0 12 109 CEP350 9857 broad.mit.edu 37 1 179989832 179989832 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:179989832C>G uc001gnt.2 + 12 3306 c.2923C>G c.(2923-2925)CTT>GTT p.L975V CEP350_uc009wxl.2_Missense_Mutation_p.L974V|CEP350_uc001gnu.2_Missense_Mutation_p.L809V NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 975 centrosome|nucleus|spindle ovary(4) 4 CAAAATATCTCTTGGTTCCAG 0.473 NaN 0 0 0 1 0 23 145 RGS16 6004 broad.mit.edu 37 1 182572430 182572430 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:182572430G>A uc001gpl.3 - 2 243 c.89C>T c.(88-90)TCA>TTA p.S30L RGS16_uc010pnv.1_Missense_Mutation_p.S30L NM_002928 NP_002919 O15492 RGS16_HUMAN regulator of G-protein signalling 16 30 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity ovary(1) 1 GCCCAGCTCTGATTTGTGAAG 0.488 NaN 0 0 0 1 0 49 63 LAMC1 3915 broad.mit.edu 37 1 183086694 183086694 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:183086694G>C uc001gpy.3 + 10 1970 c.1713G>C c.(1711-1713)TTG>TTC p.L571F NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 571 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGCAGGTGTTGAGTTATGGTC 0.502 NaN 0 0 0 1 0 12 68 HMCN1 83872 broad.mit.edu 37 1 186151338 186151338 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:186151338G>A uc001grq.1 + 105 16562 c.16333G>A c.(16333-16335)GAG>AAG p.E5445K HMCN1_uc001grs.1_Missense_Mutation_p.E897K NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5445 EGF-like 7; calcium-binding (Potential). response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CTGCCAGCATGAGTGTAAGAA 0.423 NaN 0 0 0 1 0 41 81 CFHR1 3078 broad.mit.edu 37 1 196797300 196797300 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:196797300G>A uc001gtn.2 + 4 645 c.531G>A c.(529-531)AGG>AGA p.R177R CFHR1_uc001gtm.2_Silent_p.R81R NM_002113 NP_002104 Q03591 FHR1_HUMAN complement factor H-related 1 precursor 177 Sushi 3. complement activation extracellular space 0 ATGAATGTAGGAGCCCTTATG 0.393 NaN 0 0 0 1 0 19 31 CFHR4 10877 broad.mit.edu 37 1 196883726 196883726 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:196883726G>T uc001gto.2 + 4 610 c.541G>T c.(541-543)GAA>TAA p.E181* CFHR4_uc009wyy.2_Nonsense_Mutation_p.E427*|CFHR4_uc001gtp.2_Nonsense_Mutation_p.E428* NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 181 Sushi 3. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 CGATGGATATGAAATCAGTTA 0.388 NaN 1 0 1.02788e-11 1 1.15021e-11 16 60 KIF14 9928 broad.mit.edu 37 1 200587334 200587334 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:200587334G>C uc010ppk.1 - 2 957 c.518C>G c.(517-519)TCT>TGT p.S173C KIF14_uc010ppj.1_5'UTR NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 173 Required for PRC1-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 GGCAACAAAAGAGTTTTTAGC 0.358 NaN 0 0 0 1 0 37 75 KIF14 9928 broad.mit.edu 37 1 200587382 200587382 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:200587382G>C uc010ppk.1 - 2 909 c.470C>G c.(469-471)TCT>TGT p.S157C KIF14_uc010ppj.1_5'UTR NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 157 Required for PRC1-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 ACTTTCCTTAGAAACACCATT 0.353 NaN 0 0 0 1 0 24 61 CAMSAP1L1 23271 broad.mit.edu 37 1 200819297 200819297 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:200819297G>A uc001gvl.2 + 12 3703 c.3433G>A c.(3433-3435)GAT>AAT p.D1145N CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.D1134N|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.D1118N NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 1145 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 TGAAAAATATGATGGAGAAAG 0.373 NaN 0 0 0 1 0 26 110 KIF21B 23046 broad.mit.edu 37 1 200954093 200954093 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:200954093C>T uc001gvs.1 - 27 4014 c.3697G>A c.(3697-3699)GAT>AAT p.D1233N KIF21B_uc001gvr.1_Missense_Mutation_p.D1233N|KIF21B_uc009wzl.1_Missense_Mutation_p.D1233N|KIF21B_uc010ppn.1_Missense_Mutation_p.D1233N NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1233 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 AATCCCACATCTGTGGACCTG 0.612 NaN 0 0 0 1 0 8 40 CACNA1S 779 broad.mit.edu 37 1 201030512 201030512 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:201030512G>A uc001gvv.2 - 25 3365 c.3138C>T c.(3136-3138)ATC>ATT p.I1046I NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1046 III.|Helical; Name=S6 of repeat III; (Potential).|Dihydropyridine binding (By similarity). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGATGTAGATGATGAAGAAGA 0.517 NaN 0 0 0 1 0 13 54 CACNA1S 779 broad.mit.edu 37 1 201035414 201035414 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:201035414C>T uc001gvv.2 - 21 2915 c.2688G>A c.(2686-2688)CTG>CTA p.L896L NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 896 III.|Helical; Name=S4 of repeat III; (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCAGCACCCTCAGGATCTTCA 0.662 NaN 0 0 0 1 0 12 65 LGR6 59352 broad.mit.edu 37 1 202272426 202272426 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:202272426G>T uc001gxu.2 + 10 949 c.949G>T c.(949-951)GAC>TAC p.D317Y LGR6_uc001gxv.2_Missense_Mutation_p.D265Y|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.D178Y|LGR6_uc009xac.1_RNA NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 317 LRR 10.|Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 TGGTGCCATGGACATCCAGGA 0.502 NaN 1 0 5.35267e-07 1 5.71072e-07 17 62 LGR6 59352 broad.mit.edu 37 1 202273726 202273726 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:202273726G>C uc001gxu.2 + 11 1038 c.1038G>C c.(1036-1038)GGG>GGC p.G346G LGR6_uc001gxv.2_Silent_p.G294G|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.G207G|LGR6_uc009xac.1_RNA NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 346 LRR 11.|Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 TCCCATCGGGGATGTGCCAAC 0.632 NaN 0 0 0 1 0 6 40 LGR6 59352 broad.mit.edu 37 1 202278242 202278242 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:202278242G>A uc001gxu.2 + 15 1344 c.1344G>A c.(1342-1344)CTG>CTA p.L448L LGR6_uc001gxv.2_Silent_p.L396L|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.L309L NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 448 Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 TGATGCATCTGAAGCTCAAAG 0.567 NaN 0 0 0 1 0 5 51 LGR6 59352 broad.mit.edu 37 1 202283965 202283965 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:202283965G>T uc001gxu.2 + 17 1603 c.1603G>T c.(1603-1605)GAG>TAG p.E535* LGR6_uc001gxv.2_Nonsense_Mutation_p.E483*|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Nonsense_Mutation_p.E396* NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 535 Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 GCTGGAGATGGAGGACTCAAA 0.572 NaN 1 0 0.00198382 1 0.0020207 7 30 CDK18 5129 broad.mit.edu 37 1 205492313 205492313 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:205492313G>T uc001hcr.2 + 2 237 c.18G>T c.(16-18)ATG>ATT p.M6I CDK18_uc009xbk.1_Intron|CDK18_uc009xbl.1_Intron|CDK18_uc010pri.1_5'UTR|CDK18_uc001hcp.2_Missense_Mutation_p.M6I|CDK18_uc001hcq.2_Missense_Mutation_p.M6I|CDK18_uc010prj.1_5'UTR|CDK18_uc001hcs.2_5'UTR|CDK18_uc009xbm.1_5'Flank NM_212503 NP_997668 Q07002 CDK18_HUMAN PCTAIRE protein kinase 3 isoform a 4 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity stomach(2) 2 TGAACAAGATGAAGAACTTTA 0.517 NaN 1 0 0.0477658 1 0.0481479 8 53 CD46 4179 broad.mit.edu 37 1 207940986 207940986 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:207940986G>C uc001hgc.2 + 7 1047 c.891G>C c.(889-891)TTG>TTC p.L297F CD46_uc001hgd.2_Intron|CD46_uc001hge.2_Intron|CD46_uc001hgf.2_Intron|CD46_uc001hgg.2_Intron|CD46_uc001hgh.2_Intron|CD46_uc001hgi.2_Intron|CD46_uc001hgj.2_Missense_Mutation_p.L297F|CD46_uc001hgk.2_Missense_Mutation_p.L297F|CD46_uc001hgl.2_Intron|CD46_uc001hgm.2_Intron|CD46_uc001hgn.2_Intron|CD46_uc001hgo.2_Missense_Mutation_p.L297F|CD46_uc001hgp.2_Intron NM_002389 NP_002380 P15529 MCP_HUMAN CD46 antigen, complement regulatory protein 297 Extracellular (Potential). complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity large_intestine(2)|lung(1)|central_nervous_system(1) 4 CTCCAGCTTTGAGTCATTCAG 0.368 NaN 0 0 0 1 0 21 102 IRF6 3664 broad.mit.edu 37 1 209964141 209964141 + Silent SNP A A G rs41303263 byFrequency TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:209964141A>G uc001hhq.1 - 7 1022 c.759T>C c.(757-759)TAT>TAC p.Y253Y IRF6_uc010psm.1_Silent_p.Y158Y|IRF6_uc009xct.1_Silent_p.Y253Y NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 253 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) CCAGGTCCCCATAGAAGAGTC 0.567 NaN HNSCC(57;0.16) 0 0 0 1 0 6 74 TATDN3 128387 broad.mit.edu 37 1 212965324 212965324 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:212965324G>C uc001hjo.2 + 1 155 c.61G>C c.(61-63)GAC>CAC p.D21H NSL1_uc001hjm.2_5'Flank|NSL1_uc001hjn.2_5'Flank|NSL1_uc010pti.1_5'Flank|TATDN3_uc010ptj.1_Missense_Mutation_p.D21H|TATDN3_uc010ptk.1_Missense_Mutation_p.D21H|TATDN3_uc001hjp.2_Missense_Mutation_p.D21H|TATDN3_uc010ptl.1_Missense_Mutation_p.D21H NM_001042552 NP_001036017 Q17R31 TATD3_HUMAN TatD DNase domain containing 3 isoform 1 21 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104) CCCGGACTTTGACCGCGTATG 0.657 NaN 0 0 0 1 0 6 18 CENPF 1063 broad.mit.edu 37 1 214813365 214813365 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:214813365G>C uc001hkm.2 + 12 1858 c.1684G>C c.(1684-1686)GAT>CAT p.D562H NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 562 Potential. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TGCTGTGGCTGATCTGGAAAA 0.363 NaN 0 0 0 1 0 39 146 CENPF 1063 broad.mit.edu 37 1 214826227 214826227 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:214826227C>A uc001hkm.2 + 16 8391 c.8217C>A c.(8215-8217)CTC>CTA p.L2739L NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 2835 Potential.|Sufficient for self-association.|Sufficient for centromere localization. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AAGAATGTCTCAGTTCACAGA 0.328 NaN 1 0 8.00594e-06 1 8.41325e-06 17 72 TP53BP2 7159 broad.mit.edu 37 1 223983917 223983917 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:223983917G>T uc010pvb.1 - 13 2616 c.2324C>A c.(2323-2325)TCA>TAA p.S775* TP53BP2_uc001hod.2_Nonsense_Mutation_p.S646*|TP53BP2_uc010puz.1_Nonsense_Mutation_p.S8*|TP53BP2_uc010pva.1_Nonsense_Mutation_p.S414* NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 769 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) GGATGGGTATGATGGGACAGA 0.478 NaN 1 0 6.12954e-19 1 7.0211e-19 25 126 TP53BP2 7159 broad.mit.edu 37 1 223983926 223983926 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:223983926G>C uc010pvb.1 - 13 2607 c.2315C>G c.(2314-2316)TCT>TGT p.S772C TP53BP2_uc001hod.2_Missense_Mutation_p.S643C|TP53BP2_uc010puz.1_Missense_Mutation_p.S5C|TP53BP2_uc010pva.1_Missense_Mutation_p.S411C NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 766 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) TGATGGGACAGAGATGGTCTC 0.468 NaN 0 0 0 1 0 25 115 OBSCN 84033 broad.mit.edu 37 1 228495976 228495976 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:228495976G>T uc009xez.1 + 47 12675 c.12631G>T c.(12631-12633)GAT>TAT p.D4211Y OBSCN_uc001hsn.2_Missense_Mutation_p.D4211Y NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4211 Ig-like 43. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGCTGTGCGGGATGGCCGCAT 0.632 NaN 1 0 4.36969e-10 1 4.83815e-10 13 16 EXOC8 149371 broad.mit.edu 37 1 231472148 231472148 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:231472148G>A uc001huq.2 - 1 1431 c.1344C>T c.(1342-1344)ATC>ATT p.I448I NM_175876 NP_787072 Q8IYI6 EXOC8_HUMAN exocyst complex 84-kDa subunit 448 exocytosis|protein transport growth cone|nucleus protein binding skin(1) 1 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) TGGCACCTTCGATGCGAAGCT 0.488 NaN 0 0 0 1 0 15 67 EXOC8 149371 broad.mit.edu 37 1 231473029 231473029 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:231473029C>T uc001huq.2 - 1 550 c.463G>A c.(463-465)GAG>AAG p.E155K NM_175876 NP_787072 Q8IYI6 EXOC8_HUMAN exocyst complex 84-kDa subunit 155 exocytosis|protein transport growth cone|nucleus protein binding skin(1) 1 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) TTTCCTTCCTCGCCTGGACCG 0.677 NaN 0 0 0 1 0 12 19 HEATR1 55127 broad.mit.edu 37 1 236744562 236744562 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:236744562C>T uc001hyd.1 - 20 2840 c.2715G>A c.(2713-2715)AAG>AAA p.K905K HEATR1_uc009xgh.1_Silent_p.K148K NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 905 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TACACTGTGTCTTCTGAGAAG 0.408 NaN 0 0 0 1 0 25 107 RYR2 6262 broad.mit.edu 37 1 237872849 237872849 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr1:237872849C>T uc001hyl.1 + 70 10332 c.10212C>T c.(10210-10212)ATC>ATT p.I3404I RYR2_uc010pxz.1_Silent_p.I359I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3404 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAGTGTTTATCTACTGGTCGA 0.453 NaN 0 0 0 1 0 5 13 AKR1E2 83592 broad.mit.edu 37 10 4877927 4877927 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:4877927C>G uc001ihi.2 + 4 500 c.385C>G c.(385-387)CGA>GGA p.R129G AKR1E2_uc001ihl.1_RNA|AKR1E2_uc010qam.1_Missense_Mutation_p.R90G|AKR1E2_uc001ihh.1_Missense_Mutation_p.R129G|AKR1E2_uc009xhw.2_Missense_Mutation_p.R129G|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Missense_Mutation_p.R129G NM_001040177 NP_001035267 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 129 cytoplasm 1,5-anhydro-D-fructose reductase activity 0 CTCACATCCTCGAGTGCAGGA 0.517 NaN 0 0 0 1 0 18 59 PRKCQ 5588 broad.mit.edu 37 10 6540507 6540507 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:6540507C>A uc001ijj.1 - 5 468 c.393G>T c.(391-393)ATG>ATT p.M131I PRKCQ_uc009xim.1_Missense_Mutation_p.M131I|PRKCQ_uc001iji.1_Missense_Mutation_p.M164I|PRKCQ_uc009xin.1_Missense_Mutation_p.M95I|PRKCQ_uc010qax.1_Missense_Mutation_p.M6I NM_006257 NP_006248 Q04759 KPCT_HUMAN protein kinase C, theta 131 axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity ovary(3)|lung(2)|large_intestine(1) 6 CAAATTCATTCATGTCCTTTG 0.527 NaN 1 0 3.52763e-06 1 3.72263e-06 18 30 BEND7 222389 broad.mit.edu 37 10 13534731 13534731 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:13534731C>G uc001imm.2 - 5 858 c.561G>C c.(559-561)GAG>GAC p.E187D BEND7_uc001imo.3_Missense_Mutation_p.E200D NM_152751 NP_689964 Q8N7W2 BEND7_HUMAN BEN domain containing 7 isoform 1 239 protein binding ovary(1)|breast(1) 2 TTTTCTCCATCTCTGACCCAC 0.532 NaN 0 0 0 1 0 24 186 CACNB2 783 broad.mit.edu 37 10 18690931 18690931 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:18690931G>C uc001ipr.2 + 3 352 c.292G>C c.(292-294)GAA>CAA p.E98Q CACNB2_uc009xjz.1_Missense_Mutation_p.E98Q|CACNB2_uc001ips.2_Missense_Mutation_p.E98Q|CACNB2_uc001ipt.2_Missense_Mutation_p.E98Q|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.E70Q|CACNB2_uc001ipv.2_Missense_Mutation_p.E70Q|CACNB2_uc009xka.1_Missense_Mutation_p.E70Q|CACNB2_uc001ipw.2_Missense_Mutation_p.E43Q|CACNB2_uc001ipx.2_Missense_Mutation_p.E43Q|CACNB2_uc009xkb.1_Missense_Mutation_p.E44Q|CACNB2_uc010qcm.1_Missense_Mutation_p.E44Q|CACNB2_uc001ipz.2_Missense_Mutation_p.E44Q|CACNB2_uc001ipy.2_Missense_Mutation_p.E44Q|CACNB2_uc010qcn.1_Missense_Mutation_p.E50Q|CACNB2_uc010qco.1_Missense_Mutation_p.E50Q|CACNB2_uc001iqa.2_Missense_Mutation_p.E50Q NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 98 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGTGCGCAGAGAAGCGGAGCG 0.542 NaN 0 0 0 1 0 6 71 ANKRD26 22852 broad.mit.edu 37 10 27318254 27318254 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:27318254G>C uc001ith.2 - 26 4008 c.3836C>G c.(3835-3837)GCT>GGT p.A1279G ANKRD26_uc001itg.2_Missense_Mutation_p.A966G|ANKRD26_uc009xku.1_Missense_Mutation_p.A1280G NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1279 Potential. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 ACATCTGACAGCTTCTGTATG 0.308 NaN 0 0 0 1 0 10 27 SYT15 83849 broad.mit.edu 37 10 46963916 46963916 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:46963916G>A uc001jea.2 - 7 1200 c.1047C>T c.(1045-1047)TTC>TTT p.F349F SYT15_uc001jdz.2_Silent_p.F349F|SYT15_uc001jeb.2_Silent_p.F227F|SYT15_uc010qfp.1_RNA NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN synaptotagmin XV isoform a 349 Cytoplasmic (Potential).|C2 2. integral to membrane|plasma membrane 0 CCTTGAAGCTGAAGGTCTCAT 0.532 NaN 0 0 0 1 0 6 48 GDF10 2662 broad.mit.edu 37 10 48429210 48429210 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:48429210C>A uc001jfb.2 - 2 1132 c.676G>T c.(676-678)GAT>TAT p.D226Y GDF10_uc009xnp.2_Missense_Mutation_p.D225Y|GDF10_uc009xnq.1_Missense_Mutation_p.D226Y NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 226 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 TCCTCAGAATCCAGCTGGGCG 0.697 NaN 1 0 1 1 1 3 12 JMJD1C 221037 broad.mit.edu 37 10 64937590 64937590 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:64937590C>T uc001jmn.2 - 23 7411 c.7111G>A c.(7111-7113)GAT>AAT p.D2371N JMJD1C_uc001jml.2_Missense_Mutation_p.D2134N|JMJD1C_uc001jmm.2_Missense_Mutation_p.D2083N|JMJD1C_uc010qiq.1_Missense_Mutation_p.D2189N|JMJD1C_uc009xpi.2_Missense_Mutation_p.D2189N|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmk.2_5'Flank|JMJD1C_uc001jmo.2_Missense_Mutation_p.D278N NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 2371 JmjC. blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TCATCCAAATCTTCTTCCTCA 0.363 NaN 0 0 0 1 0 5 16 SIRT1 23411 broad.mit.edu 37 10 69672284 69672284 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:69672284C>T uc001jnd.2 + 8 1464 c.1411C>T c.(1411-1413)CAT>TAT p.H471Y SIRT1_uc010qis.1_Missense_Mutation_p.H176Y|SIRT1_uc009xpp.2_Missense_Mutation_p.H279Y|SIRT1_uc001jne.2_Missense_Mutation_p.H168Y NM_012238 NP_036370 Q96EB6 SIRT1_HUMAN sirtuin 1 isoform a 471 Deacetylase sirtuin-type. apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding 0 ACCTTTGCCTCATCTGCATTT 0.378 NaN 0 0 0 1 0 30 33 DDX50 79009 broad.mit.edu 37 10 70670973 70670973 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:70670973G>C uc001jou.2 + 4 717 c.610G>C c.(610-612)GAA>CAA p.E204Q DDX50_uc001jot.2_Missense_Mutation_p.E204Q|DDX50_uc010qjc.1_Missense_Mutation_p.E204Q NM_024045 NP_076950 Q9BQ39 DDX50_HUMAN nucleolar protein GU2 204 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 AAGAAATCAAGAAACAATTAA 0.368 NaN 0 0 0 1 0 17 83 PPP3CB 5532 broad.mit.edu 37 10 75239090 75239090 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:75239090C>G uc001jue.2 - 2 406 c.271G>C c.(271-273)GAA>CAA p.E91Q PPP3CB_uc001juf.2_Missense_Mutation_p.E91Q|PPP3CB_uc001jug.2_Missense_Mutation_p.E91Q|PPP3CB_uc001jui.2_Missense_Mutation_p.E91Q|PPP3CB_uc001juh.2_Missense_Mutation_p.E5Q NM_021132 NP_066955 P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta 91 Catalytic. skin(1) 1 Prostate(51;0.0119) ATTGGAGCTTCTACTTCTATC 0.368 NaN 0 0 0 1 0 40 134 POLR3A 11128 broad.mit.edu 37 10 79781696 79781696 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:79781696C>G uc001jzn.2 - 7 1064 c.970G>C c.(970-972)GAG>CAG p.E324Q NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 324 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CCCGAGAGCTCACTGTTAATG 0.542 NaN 0 0 0 1 0 5 47 LIPJ 142910 broad.mit.edu 37 10 90356673 90356673 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:90356673G>T uc001kff.2 + 8 1017 c.703G>T c.(703-705)GAC>TAC p.D235Y NM_001010939 NP_001010939 Q5W064 LIPJ_HUMAN lipase, family member J 235 lipid catabolic process hydrolase activity ovary(1) 1 all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222) Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05) GTTTGGATATGACCCAAAAAA 0.274 NaN 1 0 1.15088e-07 1 1.23835e-07 17 81 PANK1 53354 broad.mit.edu 37 10 91353615 91353615 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:91353615C>T uc001kgp.1 - 4 1598 c.1442G>A c.(1441-1443)GGA>GAA p.G481E PANK1_uc001kgn.1_Missense_Mutation_p.G256E|PANK1_uc001kgo.1_Intron|PANK1_uc009xtu.1_Missense_Mutation_p.G283E|uc001kgq.1_5'Flank|MIR107_hsa-mir-107|MI0000114_5'Flank NM_148977 NP_683878 Q8TE04 PANK1_HUMAN pantothenate kinase 1 isoform alpha 481 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity 0 Bezafibrate(DB01393) TTCATAGTCTCCTCCGTAAAT 0.463 NaN 0 0 0 1 0 72 159 CEP55 55165 broad.mit.edu 37 10 95266787 95266787 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:95266787C>G uc009xug.2 + 4 684 c.502C>G c.(502-504)CAT>GAT p.H168D CEP55_uc001kiq.3_Missense_Mutation_p.H168D NM_001127182 NP_001120654 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 168 Interaction with PDCD6IP.|Potential.|Interaction with TSG101. cell division|mitosis centriole|cleavage furrow|midbody 0 Colorectal(252;0.207) AAATAATATTCATGAAATGGA 0.318 NaN 0 0 0 1 0 13 46 RRP12 23223 broad.mit.edu 37 10 99125901 99125901 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:99125901C>T uc001knf.2 - 29 3620 c.3481G>A c.(3481-3483)GAC>AAC p.D1161N RRP12_uc001kne.2_Missense_Mutation_p.D176N|RRP12_uc009xvl.2_Missense_Mutation_p.D278N|RRP12_uc009xvm.2_Missense_Mutation_p.D879N|RRP12_uc010qou.1_Missense_Mutation_p.D1100N|RRP12_uc009xvn.2_Missense_Mutation_p.D1061N NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 1161 integral to membrane|nuclear membrane|nucleolus protein binding ovary(2)|central_nervous_system(1) 3 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) TTGTTGCCGTCTGCCTCCTCC 0.597 NaN 0 0 0 1 0 27 74 BLOC1S2 282991 broad.mit.edu 37 10 102045915 102045915 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:102045915G>A uc001kqw.1 - 2 134 c.111C>T c.(109-111)ATC>ATT p.I37I BLOC1S2_uc001kqv.1_5'UTR NM_173809 NP_776170 Q6QNY1 BL1S2_HUMAN biogenesis of lysosome-related organelles 37 melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus gamma-tubulin binding|identical protein binding|protein C-terminus binding ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.44e-10)|all cancers(201;1.97e-08) AGAGCTCAGTGATGTCAGCTT 0.602 NaN 0 0 0 1 0 17 62 GBF1 8729 broad.mit.edu 37 10 104129979 104129979 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:104129979G>C uc001kux.1 + 27 3625 c.3385G>C c.(3385-3387)GAG>CAG p.E1129Q GBF1_uc001kuy.1_Missense_Mutation_p.E1129Q|GBF1_uc001kuz.1_Missense_Mutation_p.E1130Q NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 1129 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CCTCCAGCTGGAGTCACTACA 0.463 NaN 0 0 0 1 0 94 114 CALHM2 51063 broad.mit.edu 37 10 105207100 105207100 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:105207100C>T uc001kwz.2 - 3 1167 c.781G>A c.(781-783)GAG>AAG p.E261K CALHM2_uc001kxa.2_Missense_Mutation_p.E261K|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Missense_Mutation_p.E261K NM_015916 NP_057000 Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 261 integral to membrane skin(1) 1 ATCAGTTCCTCATCATCCTTG 0.607 NaN 0 0 0 1 0 13 67 C10orf82 143379 broad.mit.edu 37 10 118425186 118425186 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:118425186G>C uc001lcr.2 - 3 262 c.207C>G c.(205-207)GTC>GTG p.V69V C10orf82_uc001lcs.1_Silent_p.V69V NM_144661 NP_653262 Q8WW14 CJ082_HUMAN hypothetical protein LOC143379 69 0 all cancers(201;0.0143) CCTCGGAGTTGACAGGTTTCA 0.567 NaN 0 0 0 1 0 9 42 WDR11 55717 broad.mit.edu 37 10 122622425 122622425 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:122622425G>A uc010qtf.1 + 5 943 c.705G>A c.(703-705)GAG>GAA p.E235E WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 235 integral to membrane 0 TCACTCAAGAGAAACCTAGGT 0.368 NaN 0 0 0 1 0 25 39 C10orf90 118611 broad.mit.edu 37 10 128193522 128193522 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:128193522G>T uc001ljq.2 - 3 368 c.247C>A c.(247-249)CAC>AAC p.H83N C10orf90_uc001ljp.2_Missense_Mutation_p.H36N|C10orf90_uc010qum.1_Missense_Mutation_p.H180N|C10orf90_uc009yao.2_Missense_Mutation_p.H180N|C10orf90_uc001ljs.1_Missense_Mutation_p.H36N NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 83 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TGCTTGGCGTGATGTGCACGA 0.517 NaN 1 0 5.60225e-13 1 6.33079e-13 28 81 MKI67 4288 broad.mit.edu 37 10 129913840 129913840 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:129913840C>G uc001lke.2 - 7 1027 c.832G>C c.(832-834)GAT>CAT p.D278H MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 278 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGTAAACCATCAGCACTTTCT 0.448 NaN 0 0 0 1 0 17 32 GPR123 84435 broad.mit.edu 37 10 134942263 134942263 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr10:134942263G>A uc001llx.3 + 7 1367 c.931G>A c.(931-933)GAG>AAG p.E311K GPR123_uc001llw.2_Missense_Mutation_p.E1030K NM_001083909 NP_001077378 Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 311 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CGCCAAGCGTGAGGACGTGTG 0.692 NaN 0 0 0 1 0 9 18 RNH1 6050 broad.mit.edu 37 11 498609 498609 + Silent SNP G G A rs139771148 byFrequency TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:498609G>A uc001lpk.1 - 6 2212 c.804C>T c.(802-804)ATC>ATT p.I268I RNH1_uc001lpl.1_Silent_p.I268I|RNH1_uc001lpm.1_Silent_p.I268I|RNH1_uc001lpn.1_Silent_p.I268I|RNH1_uc001lpo.1_Silent_p.I268I|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Silent_p.I268I|RNH1_uc001lpt.1_Silent_p.I25I|RNH1_uc001lpq.1_Silent_p.I268I|RNH1_uc001lpr.1_Silent_p.I268I|RNH1_uc001lps.1_Silent_p.I268I NM_203389 NP_976323 P13489 RINI_HUMAN ribonuclease/angiogenin inhibitor 268 LRR 9. mRNA catabolic process|regulation of angiogenesis angiogenin-PRI complex|cytoplasm protein binding|ribonuclease inhibitor activity 0 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCTTGGCAGTGATGCCACACT 0.647 NaN 0 0 0 1 0 34 45 MUC6 4588 broad.mit.edu 37 11 1028259 1028259 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:1028259C>G uc001lsw.2 - 14 1771 c.1720G>C c.(1720-1722)GAG>CAG p.E574Q NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 574 VWFD 2. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGGTCAGTCTCACGCTCCAGA 0.662 NaN 0 0 0 1 0 4 7 CTSD 1509 broad.mit.edu 37 11 1775286 1775286 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:1775286G>C uc001luc.1 - 7 1043 c.910C>G c.(910-912)CCG>GCG p.P304A CTSD_uc009yda.1_RNA NM_001909 NP_001900 P07339 CATD_HUMAN cathepsin D preproprotein 304 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity 0 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCATCCACCGGGCCCACCATG 0.602 NaN 0 0 0 1 0 6 22 TNNI2 7136 broad.mit.edu 37 11 1862395 1862395 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:1862395G>C uc010qxe.1 + 5 433 c.411G>C c.(409-411)CTG>CTC p.L137L TNNI2_uc010qxc.1_Silent_p.L135L|TNNI2_uc010qxd.1_Silent_p.L135L NM_001145841 NP_001139313 P48788 TNNI2_HUMAN fast-twitch skeletal muscle troponin I isoform 137 muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding 0 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCATGGACCTGAGGGCCAACC 0.652 NaN 0 0 0 1 0 16 24 TRPM5 29850 broad.mit.edu 37 11 2432724 2432724 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:2432724C>A uc001lwm.3 - 18 2649 c.2640G>T c.(2638-2640)CTG>CTT p.L880L TRPM5_uc010qxl.1_Silent_p.L880L|TRPM5_uc009ydn.2_Silent_p.L882L NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 880 Helical; (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GCCACACGCTCAGAAAGAAGA 0.672 NaN 1 0 0.000566183 1 0.000583312 15 68 OR51V1 283111 broad.mit.edu 37 11 5221178 5221178 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:5221178G>A uc010qyz.1 - 1 753 c.753C>T c.(751-753)ATC>ATT p.I251I NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, 251 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGATGTGGGAGATGCAGGTCT 0.483 NaN 0 0 0 1 0 22 52 ZNF214 7761 broad.mit.edu 37 11 7021665 7021665 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:7021665C>G uc001mfa.2 - 3 1552 c.1249G>C c.(1249-1251)GAA>CAA p.E417Q ZNF214_uc010ray.1_Missense_Mutation_p.E417Q|ZNF214_uc009yfh.1_Missense_Mutation_p.E417Q NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 417 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) CCACAGTCTTCACATTTATAA 0.398 NaN 0 0 0 1 0 54 79 ADM 133 broad.mit.edu 37 11 10327968 10327968 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:10327968G>A uc001mik.1 + 3 955 c.338G>A c.(337-339)GGG>GAG p.G113E ADM_uc001mil.1_Missense_Mutation_p.G113E|ADM_uc001mim.1_Missense_Mutation_p.G66E NM_001124 NP_001115 P35318 ADML_HUMAN adrenomedullin precursor 113 blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding cytoplasm|extracellular space|soluble fraction hormone activity central_nervous_system(1) 1 all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257) TGCCGCTTCGGGACGTGCACG 0.632 NaN 0 0 0 1 0 10 33 PIK3C2A 5286 broad.mit.edu 37 11 17139154 17139154 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:17139154G>C uc001mmq.3 - 18 3166 c.3100C>G c.(3100-3102)CTC>GTC p.L1034V PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.L654V|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 1034 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) ACTGACAGGAGAGCACCCAAA 0.413 NaN 0 0 0 1 0 14 61 ANO3 63982 broad.mit.edu 37 11 26463525 26463525 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:26463525C>T uc001mqt.3 + 2 252 c.107C>T c.(106-108)TCC>TTC p.S36F ANO3_uc010rdr.1_Missense_Mutation_p.S20F NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 36 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TCTCGGAGATCCCTGCCTTGC 0.438 NaN 0 0 0 1 0 29 127 CCDC34 91057 broad.mit.edu 37 11 27378991 27378991 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:27378991C>T uc001mrh.1 - 2 511 c.457G>A c.(457-459)GAA>AAA p.E153K CCDC34_uc001mri.1_Missense_Mutation_p.E153K NM_030771 NP_110398 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 isoform 1 153 Potential. 0 TCTTCTTTTTCTTTGCCAATA 0.433 NaN 0 0 0 1 0 16 92 ABTB2 25841 broad.mit.edu 37 11 34189480 34189480 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:34189480C>A uc001mvl.1 - 6 1295 c.1065G>T c.(1063-1065)CTG>CTT p.L355L NM_145804 NP_665803 Q8N961 ABTB2_HUMAN ankyrin repeat and BTB (POZ) domain containing 355 DNA binding central_nervous_system(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) CAGCATCAATCAACATCTGGA 0.562 NaN 1 0 0.004672 1 0.00473971 3 16 LDLRAD3 143458 broad.mit.edu 37 11 36248961 36248961 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:36248961G>T uc001mwk.1 + 5 818 c.781G>T c.(781-783)GAG>TAG p.E261* LDLRAD3_uc010rey.1_Nonsense_Mutation_p.E212*|LDLRAD3_uc010rez.1_Nonsense_Mutation_p.E140*|LDLRAD3_uc010rfa.1_Intron NM_174902 NP_777562 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain 261 Cytoplasmic (Potential). integral to membrane receptor activity central_nervous_system(1) 1 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) CTCCTACTCCGAGGCCTTGCT 0.577 NaN 1 0 0.000442599 1 0.000456363 10 97 OR4X1 390113 broad.mit.edu 37 11 48285748 48285748 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:48285748C>G uc010rht.1 + 1 336 c.336C>G c.(334-336)CTC>CTG p.L112L NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 AGGCCTTTCTCCTGATGGTGA 0.493 NaN 0 0 0 1 0 9 56 OR5D18 219438 broad.mit.edu 37 11 55587800 55587800 + Missense_Mutation SNP T T C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:55587800T>C uc010rin.1 + 1 695 c.695T>C c.(694-696)GTC>GCC p.V232A NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) ATGCGTTCAGTCAGTGGGCGC 0.498 NaN 0 0 0 1 0 16 105 OR5AS1 219447 broad.mit.edu 37 11 55798344 55798344 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:55798344C>T uc010riw.1 + 1 450 c.450C>T c.(448-450)TTC>TTT p.F150F NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) TGGCATATTTCAGTGGAAGTA 0.453 NaN 0 0 0 1 0 17 235 OR5M10 390167 broad.mit.edu 37 11 56345151 56345152 + Missense_Mutation DNP CC CC TT TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:56345151_56345152CC>TT uc001niz.1 - 1 46_47 c.46_47GG>AA c.(46-48)GGA>AAA p.G16K NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTCTGTCAGTCCTAAGAGAATG 0.455 NaN 0 0 0 1 0 29 74 SSRP1 6749 broad.mit.edu 37 11 57099862 57099862 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:57099862C>T uc001njt.2 - 7 1134 c.867G>A c.(865-867)ATG>ATA p.M289I NM_003146 NP_003137 Q08945 SSRP1_HUMAN structure specific recognition protein 1 289 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding ovary(2) 2 CTCACTCGTTCATGTTCAGAG 0.522 NaN 0 0 0 1 0 26 129 CNTF 1270 broad.mit.edu 37 11 58391557 58391557 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:58391557G>A uc001nna.3 + 2 245 c.165G>A c.(163-165)GGG>GGA p.G55G ZFP91-CNTF_uc010rkm.1_RNA NM_000614 NP_000605 P26441 CNTF_HUMAN ciliary neurotrophic factor 55 ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) CTGCGGATGGGATGCCAGTGG 0.527 NaN 0 0 0 1 0 11 75 CNTF 1270 broad.mit.edu 37 11 58391595 58391595 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:58391595C>A uc001nna.3 + 2 283 c.203C>A c.(202-204)ACC>AAC p.T68N ZFP91-CNTF_uc010rkm.1_RNA NM_000614 NP_000605 P26441 CNTF_HUMAN ciliary neurotrophic factor 68 ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) AGTGAGCTGACCGAGGCAGAG 0.537 NaN 1 0 2.27111e-07 1 2.43748e-07 13 68 OR5AN1 390195 broad.mit.edu 37 11 59132261 59132261 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:59132261G>C uc010rks.1 + 1 330 c.330G>C c.(328-330)CTG>CTC p.L110L NM_001004729 NP_001004729 Q8NGI8 O5AN1_HUMAN olfactory receptor, family 5, subfamily AN, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CGATGGGACTGAGTGAGTCTT 0.443 NaN 0 0 0 1 0 19 194 OR5A1 219982 broad.mit.edu 37 11 59211279 59211279 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:59211279C>T uc001nnx.1 + 1 638 c.638C>T c.(637-639)TCG>TTG p.S213L NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 213 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 GGAGGAACATCGTTCCTCCAA 0.542 NaN 0 0 0 1 0 39 215 PGA5 5222 broad.mit.edu 37 11 61017253 61017253 + Missense_Mutation SNP G G T rs139795742 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:61017253G>T uc001nqz.2 + 7 916 c.886G>T c.(886-888)GAC>TAC p.D296Y NM_014224 NP_055039 P00790 PEPA_HUMAN pepsinogen 5, group I precursor 296 digestion|proteolysis extracellular region aspartic-type endopeptidase activity skin(1) 1 CATCCAGAGCGACATCGGAGC 0.612 NaN 1 0 6.48837e-15 1 7.37181e-15 41 196 C11orf9 745 broad.mit.edu 37 11 61548506 61548506 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:61548506C>G uc001nsc.1 + 20 2657 c.2561C>G c.(2560-2562)TCT>TGT p.S854C C11orf9_uc001nse.1_Missense_Mutation_p.S819C|C11orf9_uc010rll.1_Missense_Mutation_p.S245C NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 854 central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 ATACAGCCCTCTTTGCTGCTG 0.617 NaN 0 0 0 1 0 10 44 FADS2 9415 broad.mit.edu 37 11 61624491 61624491 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:61624491G>C uc001nsl.1 + 6 903 c.753G>C c.(751-753)AAG>AAC p.K251N FADS2_uc001nsj.2_Missense_Mutation_p.K229N|FADS2_uc010rlo.1_Missense_Mutation_p.K220N|FADS2_uc001nsk.2_Missense_Mutation_p.K251N NM_004265 NP_004256 O95864 FADS2_HUMAN fatty acid desaturase 2 251 Cytoplasmic (Potential). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding ovary(1)|pancreas(1) 2 Alpha-Linolenic Acid(DB00132) AGTACGGCAAGAAGAAGCTGA 0.577 NaN 0 0 0 1 0 13 71 FADS3 3995 broad.mit.edu 37 11 61646279 61646279 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:61646279G>C uc001nsm.2 - 4 716 c.563C>G c.(562-564)TCC>TGC p.S188C FADS3_uc001nsn.2_Missense_Mutation_p.S64C NM_021727 NP_068373 Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 188 Cytoplasmic (Potential). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water ovary(1)|pancreas(1) 2 CTTGAAGATGGAGGCATGGCC 0.642 NaN 0 0 0 1 0 7 44 GANAB 23193 broad.mit.edu 37 11 62402467 62402467 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:62402467G>C uc001nub.2 - 5 419 c.386C>G c.(385-387)TCT>TGT p.S129C GANAB_uc001nua.2_Missense_Mutation_p.S129C|GANAB_uc001nuc.2_Missense_Mutation_p.S32C|GANAB_uc010rma.1_Missense_Mutation_p.S15C|GANAB_uc010rmb.1_Missense_Mutation_p.S15C NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 129 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 ACCAGAGACAGAAAGCCTGGG 0.463 NaN 0 0 0 1 0 16 76 SLC22A8 9376 broad.mit.edu 37 11 62763271 62763271 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:62763271C>T uc001nwo.2 - 7 1042 c.906G>A c.(904-906)CAG>CAA p.Q302Q SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Silent_p.Q302Q|SLC22A8_uc009yom.2_Silent_p.Q179Q|SLC22A8_uc010rmm.1_Silent_p.Q211Q|SLC22A8_uc009yon.2_Silent_p.Q302Q NM_004254 NP_004245 Q8TCC7 S22A8_HUMAN solute carrier family 22 member 8 302 Cytoplasmic (Potential). response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity skin(2)|ovary(1) 3 AGATCTCCTTCTGCAGGTTGA 0.587 NaN 0 0 0 1 0 22 84 RTN3 10313 broad.mit.edu 37 11 63520106 63520106 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:63520106G>C uc001nxq.2 + 5 3053 c.2866G>C c.(2866-2868)GAC>CAC p.D956H RTN3_uc001nxo.2_Missense_Mutation_p.D160H|RTN3_uc001nxm.2_Missense_Mutation_p.D179H|RTN3_uc001nxn.2_Missense_Mutation_p.D937H|RTN3_uc001nxp.2_Missense_Mutation_p.D160H|RTN3_uc009yov.2_Missense_Mutation_p.D844H|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 956 Helical; (Potential).|Reticulon. apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane ovary(1) 1 AGATCTGGTTGACTCCTTGAA 0.413 NaN 0 0 0 1 0 36 144 C11orf84 144097 broad.mit.edu 37 11 63594565 63594565 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:63594565C>A uc001nxt.2 + 6 1336 c.1100C>A c.(1099-1101)TCC>TAC p.S367Y C11orf84_uc001nxu.1_RNA NM_138471 NP_612480 Q9BUA3 CK084_HUMAN hypothetical protein LOC144097 367 0 CTGTCAGAATCCAGCACCACT 0.612 NaN 1 0 0.000157383 1 0.00016281 8 33 PLCB3 5331 broad.mit.edu 37 11 64033997 64033997 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:64033997C>T uc001nzb.2 + 29 3387 c.3387C>T c.(3385-3387)ATC>ATT p.I1129I PLCB3_uc009ypg.1_Silent_p.I1129I|PLCB3_uc009yph.1_Silent_p.I1062I|PLCB3_uc009ypi.2_Silent_p.I1129I NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 1129 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 GTCGGCACATCACTGAGTCAG 0.632 NaN 0 0 0 1 0 16 36 MEN1 4221 broad.mit.edu 37 11 64573830 64573830 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:64573830G>A uc001obj.2 - 7 1011 c.938C>T c.(937-939)TCA>TTA p.S313L MEN1_uc001obk.2_Missense_Mutation_p.S313L|MEN1_uc001obl.2_Missense_Mutation_p.S273L|MEN1_uc001obm.2_Missense_Mutation_p.S308L|MEN1_uc001obn.2_Missense_Mutation_p.S313L|MEN1_uc001obo.2_Missense_Mutation_p.S313L|MEN1_uc001obp.2_Missense_Mutation_p.S308L|MEN1_uc001obq.2_Missense_Mutation_p.S313L|MEN1_uc001obr.2_Missense_Mutation_p.S313L NM_130800 NP_570712 O00255 MEN1_HUMAN menin isoform 1 313 Interaction with FANCD2. DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1) 238 GGTCTTGGCTGAGGCAATGCC 0.622 NaN D|Mis|N|F|S parathyroid tumors|Pancreatic neuroendocrine tumors parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1 OREG0004014 type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 1 0 42 78 LTBP3 4054 broad.mit.edu 37 11 65325173 65325173 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:65325173C>G uc001oej.2 - 1 527 c.258G>C c.(256-258)CAG>CAC p.Q86H LTBP3_uc010roi.1_5'UTR|LTBP3_uc001oei.2_Missense_Mutation_p.Q86H|LTBP3_uc010roj.1_Missense_Mutation_p.Q72H|LTBP3_uc010rok.1_5'UTR NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding 86 Gly-rich. extracellular region calcium ion binding|growth factor binding central_nervous_system(2)|lung(1) 3 TGTTGGAGCCCTGCTGACAAC 0.647 NaN 0 0 0 1 0 6 71 PACS1 55690 broad.mit.edu 37 11 65998061 65998061 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:65998061C>G uc001oha.1 + 12 1551 c.1417C>G c.(1417-1419)CTG>GTG p.L473V PACS1_uc010rou.1_Missense_Mutation_p.L9V NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 473 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 CAGCACGAGTCTGGTTGTGCC 0.542 NaN 0 0 0 1 0 9 52 RBM4B 83759 broad.mit.edu 37 11 66444533 66444533 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:66444533G>A uc001oja.2 - 1 687 c.18C>T c.(16-18)ATC>ATT p.I6I RBM4B_uc001ojb.2_Silent_p.I6I NM_031492 NP_113680 Q9BQ04 RBM4B_HUMAN RNA binding motif protein 4B 6 RRM 1. circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing nucleolus nucleotide binding|RNA binding|zinc ion binding 0 GAAGGTTTCCGATGAACAGCT 0.502 NaN 0 0 0 1 0 21 139 SPTBN2 6712 broad.mit.edu 37 11 66466202 66466202 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:66466202C>T uc001ojd.2 - 19 3994 c.3922G>A c.(3922-3924)GAG>AAG p.E1308K NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1308 Spectrin 10. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 TTGCGGGCCTCGTCATAGGAC 0.562 NaN 0 0 0 1 0 12 69 LRFN4 78999 broad.mit.edu 37 11 66627177 66627177 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:66627177C>A uc001ojr.2 + 2 1759 c.1419C>A c.(1417-1419)TGC>TGA p.C473* PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron NM_024036 NP_076941 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III 473 Extracellular (Potential).|Fibronectin type-III. integral to membrane 0 ATGACCTCTGCCTGCTGGCCT 0.687 NaN 1 0 1.12685e-05 1 1.18122e-05 8 20 LRFN4 78999 broad.mit.edu 37 11 66627252 66627252 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:66627252C>A uc001ojr.2 + 2 1834 c.1494C>A c.(1492-1494)TCC>TCA p.S498S PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron NM_024036 NP_076941 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III 498 Extracellular (Potential). integral to membrane 0 CCCATTTCTCCACGCTGCCGG 0.716 NaN 1 0 0.00116845 1 0.00119403 6 12 LRFN4 78999 broad.mit.edu 37 11 66627354 66627354 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:66627354C>G uc001ojr.2 + 2 1936 c.1596C>G c.(1594-1596)GTC>GTG p.V532V PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron NM_024036 NP_076941 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III 532 Helical; (Potential). integral to membrane 0 CCTTACTGGTCTTCACTGTGG 0.721 NaN 0 0 0 1 0 9 25 LRFN4 78999 broad.mit.edu 37 11 66627411 66627411 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:66627411C>G uc001ojr.2 + 2 1993 c.1653C>G c.(1651-1653)CTC>CTG p.L551L PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron NM_024036 NP_076941 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III 551 Cytoplasmic (Potential). integral to membrane 0 GCCTCCCCCTCAAGCTCAGCC 0.587 NaN 0 0 0 1 0 10 19 NDUFV1 4723 broad.mit.edu 37 11 67377958 67377958 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:67377958G>C uc001omj.2 + 5 770 c.617G>C c.(616-618)TGT>TCT p.C206S NDUFV1_uc010rpv.1_Missense_Mutation_p.C105S|NDUFV1_uc001oml.2_Missense_Mutation_p.C199S|NDUFV1_uc001omk.3_Missense_Mutation_p.C197S|NDUFV1_uc009yrz.1_Missense_Mutation_p.C105S|NDUFV1_uc010rpw.1_5'Flank NM_007103 NP_009034 P49821 NDUV1_HUMAN NADH dehydrogenase ubiquinone flavoprotein 1 206 FMN (By similarity). mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity skin(1) 1 NADH(DB00157) GCCTACATCTGTGGAGAGGAG 0.602 NaN 0 0 0 1 0 44 106 KRTAP5-7 440050 broad.mit.edu 37 11 71238672 71238672 + Nonsense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:71238672C>G uc001oqq.1 + 1 360 c.326C>G c.(325-327)TCA>TGA p.S109* NM_001012503 NP_001012521 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 109 7 X 4 AA repeats of C-C-X-P. keratin filament 0 ggctgtgggtcatcctgctgc 0.139 NaN 0 0 0 1 0 71 198 NUMA1 4926 broad.mit.edu 37 11 71726869 71726869 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:71726869C>G uc001orl.1 - 15 1852 c.1680G>C c.(1678-1680)CTG>CTC p.L560L NUMA1_uc009ysw.1_Silent_p.L123L|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.L560L|NUMA1_uc001orn.2_Silent_p.L123L|NUMA1_uc009ysx.1_Silent_p.L560L|NUMA1_uc001oro.1_Silent_p.L560L NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 560 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 CCTTCTGCTTCAGGCTACTGC 0.612 NaN T RARA APL OREG0021187 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 26 150 STARD10 10809 broad.mit.edu 37 11 72466776 72466776 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:72466776C>T uc001osy.2 - 6 891 c.600G>A c.(598-600)GTG>GTA p.V200V ARAP1_uc001osv.2_Intron|STARD10_uc001osz.3_Silent_p.V200V|STARD10_uc001ota.2_Silent_p.V154V|STARD10_uc001otb.2_Silent_p.V200V NM_006645 NP_006636 Q9Y365 PCTL_HUMAN START domain containing 10 200 START. 0 BRCA - Breast invasive adenocarcinoma(5;7.08e-07) AAGATTTATTCACCACCCACT 0.592 NaN 0 0 0 1 0 13 35 UCP2 7351 broad.mit.edu 37 11 73686631 73686631 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:73686631C>T uc001oup.1 - 7 1100 c.720G>A c.(718-720)ACG>ACA p.T240T UCP2_uc001ouq.1_Intron NM_003355 NP_003346 P55851 UCP2_HUMAN uncoupling protein 2 240 Solcar 3. proton transport|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding 0 Breast(11;0.000112) TCATGTATCTCGTCTTGACCA 0.592 NaN 0 0 0 1 0 31 101 CAPN5 726 broad.mit.edu 37 11 76825378 76825378 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:76825378G>C uc001oxx.2 + 5 782 c.597G>C c.(595-597)CTG>CTC p.L199L CAPN5_uc009yup.2_Silent_p.L239L|CAPN5_uc009yuq.2_Silent_p.L235L|CAPN5_uc001oxy.2_Silent_p.L239L NM_004055 NP_004046 O15484 CAN5_HUMAN calpain 5 199 Calpain catalytic. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity 0 CCATCGACCTGACCGAGGGTG 0.582 NaN OREG0021255 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 44 309 MYO7A 4647 broad.mit.edu 37 11 76869381 76869381 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:76869381C>T uc001oyb.2 + 9 1180 c.908C>T c.(907-909)TCC>TTC p.S303F MYO7A_uc010rsl.1_Missense_Mutation_p.S303F|MYO7A_uc010rsm.1_Missense_Mutation_p.S292F|MYO7A_uc001oyc.2_Missense_Mutation_p.S303F NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 303 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 AACATCCGCTCCGCCATGAAG 0.607 NaN 0 0 0 1 0 12 33 AQP11 282679 broad.mit.edu 37 11 77301476 77301476 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:77301476C>T uc001oyj.2 + 1 797 c.439C>T c.(439-441)CAC>TAC p.H147Y AQP11_uc009yuu.2_Intron NM_173039 NP_766627 Q8NBQ7 AQP11_HUMAN aquaporin 11 147 cell surface|integral to membrane transporter activity 0 all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249) Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) GACCCAGTATCACGTCAGCGA 0.592 NaN 0 0 0 1 0 30 54 NARS2 79731 broad.mit.edu 37 11 78270590 78270590 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:78270590G>C uc001ozi.2 - 5 965 c.589C>G c.(589-591)CTT>GTT p.L197V NARS2_uc010rsq.1_5'UTR NM_024678 NP_078954 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial 197 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding ovary(2) 2 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) CTTACTTCAAGTTGAAAAAGT 0.353 NaN 0 0 0 1 0 26 142 ODZ4 26011 broad.mit.edu 37 11 78433937 78433937 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:78433937C>G uc001ozl.3 - 24 4039 c.3576G>C c.(3574-3576)GAG>GAC p.E1192D NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1192 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CAAACTGGTTCTCCCCATTCC 0.552 NaN 0 0 0 1 0 24 33 NAALAD2 10003 broad.mit.edu 37 11 89885637 89885637 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:89885637G>A uc001pdf.3 + 6 890 c.781G>A c.(781-783)GGC>AGC p.G261S NAALAD2_uc009yvx.2_Missense_Mutation_p.G261S|NAALAD2_uc009yvy.2_Missense_Mutation_p.G261S|NAALAD2_uc001pdd.2_Missense_Mutation_p.G261S|NAALAD2_uc001pde.2_Missense_Mutation_p.G261S NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 261 Extracellular (Potential). proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) ACTCACTCCAGGCTATCCAGC 0.448 NaN 0 0 0 1 0 16 33 CCDC67 159989 broad.mit.edu 37 11 93097339 93097339 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:93097339C>G uc001pdq.2 + 5 411 c.311C>G c.(310-312)ACA>AGA p.T104R CCDC67_uc001pdo.1_Missense_Mutation_p.T104R|CCDC67_uc001pdp.2_Missense_Mutation_p.T104R NM_181645 NP_857596 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 104 Potential. ovary(1) 1 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) TCCAAACTAACAAATAACTTT 0.303 NaN 0 0 0 1 0 5 25 PIWIL4 143689 broad.mit.edu 37 11 94328539 94328539 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:94328539C>G uc001pfa.2 + 10 1426 c.1215C>G c.(1213-1215)CTC>CTG p.L405L PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN piwi-like 4 405 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding skin(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AGACACGTCTCAGTCCTTCAG 0.502 NaN 0 0 0 1 0 19 116 JRKL 8690 broad.mit.edu 37 11 96124003 96124003 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:96124003C>G uc009ywu.2 + 2 442 c.190C>G c.(190-192)CTT>GTT p.L64V CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Missense_Mutation_p.L64V NM_003772 NP_003763 Q9Y4A0 JERKL_HUMAN jerky homolog-like 64 central nervous system development|regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) BRCA - Breast invasive adenocarcinoma(274;0.148) TTCCACAAGTCTTTTGGCCAA 0.398 NaN 0 0 0 1 0 18 104 CNTN5 53942 broad.mit.edu 37 11 99827554 99827554 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:99827554G>T uc001pga.2 + 8 1029 c.690G>T c.(688-690)TGG>TGT p.W230C CNTN5_uc009ywv.1_Missense_Mutation_p.W230C|CNTN5_uc001pfz.2_Missense_Mutation_p.W230C|CNTN5_uc001pgb.2_Missense_Mutation_p.W156C NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 230 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TCTATAGCTGGGTATTTAATG 0.393 NaN 1 0 8.00594e-06 1 8.41325e-06 19 48 YAP1 10413 broad.mit.edu 37 11 102100566 102100566 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:102100566G>C uc001pgt.2 + 9 1780 c.1410G>C c.(1408-1410)CTG>CTC p.L470L YAP1_uc001pgs.2_Silent_p.L420L|YAP1_uc001pgu.2_Silent_p.L454L|YAP1_uc001pgv.2_Silent_p.L416L|YAP1_uc010ruo.1_Silent_p.L292L|YAP1_uc001pgw.2_Silent_p.L294L|YAP1_uc010rup.1_Silent_p.L235L NM_001130145 NP_001123617 P46937 YAP1_HUMAN Yes-associated protein 1, 65kDa isoform 1 470 Transactivation domain. cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_cancers(8;0.000575)|all_epithelial(12;0.00564) Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0189) GAGAGGAGCTGATGCCAAGTC 0.463 NaN 0 0 0 1 0 14 104 CUL5 8065 broad.mit.edu 37 11 107959270 107959270 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:107959270C>G uc001pjv.2 + 12 1862 c.1195C>G c.(1195-1197)CAG>GAG p.Q399E CUL5_uc001pju.2_RNA NM_003478 NP_003469 Q93034 CUL5_HUMAN Vasopressin-activated calcium-mobilizing 399 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding ovary(1) 1 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) ATTAAAAACTCAGCCTGAATC 0.338 NaN 0 0 0 1 0 13 76 EXPH5 23086 broad.mit.edu 37 11 108381565 108381565 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:108381565C>G uc001pkk.2 - 6 4780 c.4669G>C c.(4669-4671)GAT>CAT p.D1557H EXPH5_uc010rvy.1_Missense_Mutation_p.D1369H|EXPH5_uc010rvz.1_Missense_Mutation_p.D1401H|EXPH5_uc010rwa.1_Missense_Mutation_p.D1481H NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1557 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TGCATTTCATCTTCAGCCTTC 0.418 NaN 0 0 0 1 0 21 117 RDX 5962 broad.mit.edu 37 11 110134918 110134918 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:110134918G>C uc001pku.2 - 5 544 c.234C>G c.(232-234)TTC>TTG p.F78L RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.F78L|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Missense_Mutation_p.F46L|RDX_uc010rwe.1_Intron NM_002906 NP_002897 P35241 RADI_HUMAN radixin 78 FERM. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding 0 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) CTCTAAACTTGAACTGTAAAG 0.303 NaN 0 0 0 1 0 21 30 ARHGAP20 57569 broad.mit.edu 37 11 110450129 110450129 + Missense_Mutation SNP C C T rs148304862 by1000genomes TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:110450129C>T uc001pkz.1 - 16 3826 c.3541G>A c.(3541-3543)GAC>AAC p.D1181N ARHGAP20_uc001pky.1_Missense_Mutation_p.D1158N|ARHGAP20_uc009yyb.1_Missense_Mutation_p.D1145N|ARHGAP20_uc001pla.1_Missense_Mutation_p.D1145N|ARHGAP20_uc001plb.2_Missense_Mutation_p.D724N NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 1181 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) TCCTCAATGTCGCAGACCACT 0.448 NaN 0 0 0 1 0 23 125 SDHD 6392 broad.mit.edu 37 11 111965691 111965691 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:111965691C>G uc001pmz.2 + 4 538 c.477C>G c.(475-477)CTC>CTG p.L159L NM_003002 NP_002993 O14521 DHSD_HUMAN succinate dehydrogenase complex, subunit D 159 Mitochondrial intermembrane (By similarity). respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding 0 all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515) Succinic acid(DB00139) TGTGGAAGCTCTGACCTTTTT 0.423 NaN Mis|N|F|S paraganglioma|pheochromocytoma Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome 0 0 0 1 0 24 66 PAFAH1B2 5049 broad.mit.edu 37 11 117023231 117023231 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:117023231G>C uc001pqe.1 + 2 170 c.68G>C c.(67-69)CGA>CCA p.R23P PAFAH1B2_uc009yzk.1_Missense_Mutation_p.R23P|PAFAH1B2_uc009yzl.1_Missense_Mutation_p.R23P|PAFAH1B2_uc009yzm.2_RNA|PAFAH1B2_uc009yzn.2_RNA|PAFAH1B2_uc009yzj.1_Intron NM_002572 NP_002563 P68402 PA1B2_HUMAN platelet-activating factor acetylhydrolase, 23 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity kidney(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111) GGAGATGACCGATGGATGTCT 0.353 NaN T IGH@ MLCLS 0 0 0 1 0 6 55 IL10RA 3587 broad.mit.edu 37 11 117859132 117859132 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:117859132G>C uc001prv.2 + 2 180 c.103G>C c.(103-105)GAA>CAA p.E35Q IL10RA_uc010rxl.1_Missense_Mutation_p.E15Q|IL10RA_uc010rxm.1_Missense_Mutation_p.E15Q|IL10RA_uc010rxn.1_5'UTR|IL10RA_uc001prw.2_5'UTR NM_001558 NP_001549 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha precursor 35 Extracellular (Potential). integral to membrane|plasma membrane interleukin-10 receptor activity ovary(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) TGTGTGGTTTGAAGCAGAATT 0.468 NaN 0 0 0 1 0 30 110 CD3G 917 broad.mit.edu 37 11 118221328 118221328 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:118221328C>T uc001psu.2 + 4 449 c.369C>T c.(367-369)ATC>ATT p.I123I CD3G_uc009zaa.1_Silent_p.I63I NM_000073 NP_000064 P09693 CD3G_HUMAN CD3G antigen, gamma polypeptide precursor 123 Helical; (Potential). establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity 0 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) TTGCTGAAATCGTCAGCATTT 0.463 NaN 0 0 0 1 0 27 103 MLL 4297 broad.mit.edu 37 11 118369132 118369132 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:118369132C>T uc001pta.2 + 22 5864 c.5841C>T c.(5839-5841)CTC>CTT p.L1947L MLL_uc001ptb.2_Silent_p.L1950L NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1947 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GTTGCTGTCTCACATCCTGCA 0.423 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 1 0 105 191 MLL 4297 broad.mit.edu 37 11 118375134 118375134 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:118375134G>A uc001pta.2 + 27 8541 c.8518G>A c.(8518-8520)GAC>AAC p.D2840N MLL_uc001ptb.2_Missense_Mutation_p.D2843N NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2840 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CAACAGTGATGACTGTGGGAA 0.443 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 1 0 56 129 MLL 4297 broad.mit.edu 37 11 118390358 118390358 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:118390358G>A uc001pta.2 + 32 11186 c.11163G>A c.(11161-11163)GGG>GGA p.G3721G MLL_uc001ptb.2_Silent_p.G3724G NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3721 FYR C-terminal. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GGATGCTGGGGATTCTCCATG 0.493 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 1 0 22 151 MLL 4297 broad.mit.edu 37 11 118390449 118390449 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 G T G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:118390449G>T uc001pta.2 + 32 11277 c.11254G>T c.(11254-11256)GAG>TAG p.E3752* MLL_uc001ptb.2_Nonsense_Mutation_p.E3755* NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3752 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CAAGCCAGAGGAGGCCAATGA 0.522 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 1 0 3.45872e-05 1 3.61359e-05 16 107 UPK2 7379 broad.mit.edu 37 11 118827612 118827612 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:118827612C>G uc001puh.2 + 2 131 c.96C>G c.(94-96)CTC>CTG p.L32L NM_006760 NP_006751 O00526 UPK2_HUMAN uroplakin 2 precursor 32 cellular membrane organization|epithelial cell differentiation|multicellular organismal development integral to endoplasmic reticulum membrane|integral to plasma membrane skin(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) TCTCAAGCCTCTCTGGTCTGC 0.627 NaN OREG0021391 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 12 68 UPK2 7379 broad.mit.edu 37 11 118827675 118827675 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:118827675C>T uc001puh.2 + 2 194 c.159C>T c.(157-159)CTC>CTT p.L53L NM_006760 NP_006751 O00526 UPK2_HUMAN uroplakin 2 precursor 53 cellular membrane organization|epithelial cell differentiation|multicellular organismal development integral to endoplasmic reticulum membrane|integral to plasma membrane skin(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) CCTGTCACCTCACAGGAGGCA 0.592 NaN OREG0021391 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 10 79 TRAPPC4 51399 broad.mit.edu 37 11 118889918 118889918 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:118889918G>C uc010ryo.1 + 2 506 c.241G>C c.(241-243)GAG>CAG p.E81Q RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.1_Missense_Mutation_p.E81Q|TRAPPC4_uc010ryp.1_Missense_Mutation_p.E81Q|TRAPPC4_uc001pup.2_RNA|TRAPPC4_uc010ryq.1_Missense_Mutation_p.E81Q NM_016146 NP_057230 Q9Y296 TPPC4_HUMAN trafficking protein particle complex 4 81 dendrite development|ER to Golgi vesicle-mediated transport cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) CGACGGGAAAGAGGTGCTGGA 0.562 NaN 0 0 0 1 0 13 62 CBL 867 broad.mit.edu 37 11 119149302 119149302 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:119149302G>T uc001pwe.2 + 9 1448 c.1310G>T c.(1309-1311)AGA>ATA p.R437I NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 437 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TTTGATCCTAGAGGGAGTGGC 0.483 NaN CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome 1 0 1.36615e-20 1 1.57057e-20 36 78 CBL 867 broad.mit.edu 37 11 119149399 119149399 + Missense_Mutation SNP G G A rs138277394 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:119149399G>A uc001pwe.2 + 9 1545 c.1407G>A c.(1405-1407)ATG>ATA p.M469I NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 469 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CTCTCTTCATGATGAAGGAAT 0.463 NaN CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome 0 0 0 1 0 21 55 SORL1 6653 broad.mit.edu 37 11 121384943 121384943 + Nonsense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:121384943C>G uc001pxx.2 + 8 1204 c.1124C>G c.(1123-1125)TCA>TGA p.S375* NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 375 Extracellular (Potential). cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TTATACATCTCAGAGGCAGAG 0.512 NaN 0 0 0 1 0 15 70 SORL1 6653 broad.mit.edu 37 11 121424706 121424706 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:121424706C>T uc001pxx.2 + 17 2407 c.2327C>T c.(2326-2328)TCG>TTG p.S776L NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 776 Extracellular (Potential). cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GACCTGGCCTCGGGAGCCACC 0.567 NaN 0 0 0 1 0 47 134 BSX 390259 broad.mit.edu 37 11 122848503 122848503 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:122848503C>A uc010rzs.1 - 3 556 c.556G>T c.(556-558)GAG>TAG p.E186* NM_001098169 NP_001091639 Q3C1V8 BSH_HUMAN brain specific homeobox 186 0 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) GGGCTGCCCTCGGGGCTTTCT 0.647 NaN 1 0 0.00307968 1 0.00313441 8 32 SLC37A2 219855 broad.mit.edu 37 11 124933296 124933296 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:124933296C>T uc001qbn.2 + 1 284 c.33C>T c.(31-33)TTC>TTT p.F11F SLC37A2_uc010sau.1_Silent_p.F11F NM_001145290 NP_001138762 Q8TED4 SPX2_HUMAN solute carrier family 37 (glycerol-3-phosphate 11 carbohydrate transport|transmembrane transport integral to membrane ovary(2) 2 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) GAGTCTGGTTCTTCCGGGCCT 0.711 NaN 0 0 0 1 0 5 12 NFRKB 4798 broad.mit.edu 37 11 129752028 129752028 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr11:129752028G>A uc001qfi.2 - 11 1345 c.1144C>T c.(1144-1146)CTT>TTT p.L382F NFRKB_uc001qfg.2_Missense_Mutation_p.L407F|NFRKB_uc001qfh.2_Missense_Mutation_p.L405F|NFRKB_uc010sbw.1_Missense_Mutation_p.L394F NM_001143835 NP_001137307 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 382 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding ovary(3) 3 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) TCTAATAGAAGAGAGAAGAAG 0.403 NaN OREG0021512 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 16 16 NINJ2 4815 broad.mit.edu 37 12 674518 674518 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:674518G>A uc001qil.2 - 3 541 c.450C>T c.(448-450)CTC>CTT p.L150L NM_016533 NP_057617 Q9NZG7 NINJ2_HUMAN ninjurin 2 104 Cytoplasmic (Potential). nervous system development|neuron cell-cell adhesion|tissue regeneration integral to plasma membrane ovary(2) 2 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) CTGCGTTGTTGAGCTGGTTGA 0.557 NaN 0 0 0 1 0 18 93 CACNA1C 775 broad.mit.edu 37 12 2797857 2797857 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:2797857G>T uc009zdu.1 + 49 6591 c.6278G>T c.(6277-6279)AGA>ATA p.R2093I CACNA1C_uc009zdv.1_Missense_Mutation_p.R2007I|CACNA1C_uc001qkb.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qkc.2_Missense_Mutation_p.R2029I|CACNA1C_uc001qke.2_Missense_Mutation_p.R1999I|CACNA1C_uc001qkf.2_Missense_Mutation_p.R2018I|CACNA1C_uc001qjz.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qkd.2_Missense_Mutation_p.R2029I|CACNA1C_uc001qkg.2_Missense_Mutation_p.R2016I|CACNA1C_uc009zdw.1_Missense_Mutation_p.R2051I|CACNA1C_uc001qkh.2_Missense_Mutation_p.R2018I|CACNA1C_uc001qkl.2_Missense_Mutation_p.R2058I|CACNA1C_uc001qkn.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qko.2_Missense_Mutation_p.R2030I|CACNA1C_uc001qkp.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qkr.2_Missense_Mutation_p.R2027I|CACNA1C_uc001qku.2_Missense_Mutation_p.R2045I|CACNA1C_uc001qkq.2_Missense_Mutation_p.R2038I|CACNA1C_uc001qks.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qkt.2_Missense_Mutation_p.R2029I|CACNA1C_uc001qki.1_Missense_Mutation_p.R1817I|CACNA1C_uc001qkj.1_Missense_Mutation_p.R1781I|CACNA1C_uc001qkk.1_Missense_Mutation_p.R1746I|CACNA1C_uc001qkm.1_Missense_Mutation_p.R1806I|CACNA1C_uc010sea.1_Missense_Mutation_p.R701I|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.R328I NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 2093 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCCGCCCGGAGAGTCCGGCCC 0.692 NaN 1 0 0.00116845 1 0.00119403 6 33 C12orf4 57102 broad.mit.edu 37 12 4643350 4643350 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:4643350C>T uc001qms.2 - 3 385 c.297G>A c.(295-297)GCG>GCA p.A99A C12orf4_uc001qmt.2_Silent_p.A99A NM_020374 NP_065107 Q9NQ89 CL004_HUMAN hypothetical protein LOC57102 99 0 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) CCCATGTACTCGCCAGCTGAT 0.393 NaN 0 0 0 1 0 32 55 NOP2 4839 broad.mit.edu 37 12 6675398 6675398 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:6675398C>A uc001qpk.1 - 4 387 c.343G>T c.(343-345)GAG>TAG p.E115* NOP2_uc009zeq.1_5'Flank|NOP2_uc001qph.1_Nonsense_Mutation_p.E111*|NOP2_uc001qpi.1_Nonsense_Mutation_p.E111*|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Nonsense_Mutation_p.E115*|NOP2_uc001qpm.1_Nonsense_Mutation_p.E115* P46087 NOP2_HUMAN Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120. 115 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity ovary(2) 2 TCCTCCTCCTCTTCCTCATCA 0.562 NaN 1 0 1.33987e-11 1 1.49799e-11 11 34 C12orf53 196500 broad.mit.edu 37 12 6804697 6804697 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:6804697G>T uc001qqf.1 - 5 802 c.726C>A c.(724-726)TTC>TTA p.F242L C12orf53_uc001qqg.1_Missense_Mutation_p.F242L NM_153685 NP_710152 Q8IYJ0 CL053_HUMAN hypothetical protein LOC196500 precursor 242 Cytoplasmic (Potential). integral to membrane 0 GTGAGTCCCCGAAGGCCCCCA 0.692 NaN 1 0 0.000673444 1 0.000690993 11 45 GNB3 2784 broad.mit.edu 37 12 6954828 6954828 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:6954828G>A uc001qrd.2 + 10 1183 c.778G>A c.(778-780)GAG>AAG p.E260K GNB3_uc001qrc.2_Missense_Mutation_p.E216K|GNB3_uc009zfe.2_Missense_Mutation_p.E259K|CDCA3_uc001qre.2_3'UTR|uc001qrf.1_RNA NM_002075 NP_002066 P16520 GBB3_HUMAN guanine nucleotide-binding protein, beta-3 260 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity 0 GGCAGACCAGGAGCTGATCTG 0.607 NaN 0 0 0 1 0 47 135 ZNF705A 440077 broad.mit.edu 37 12 8329747 8329747 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:8329747C>G uc001qud.1 + 5 543 c.471C>G c.(469-471)TTC>TTG p.F157L NM_001004328 NP_001004328 Q6ZN79 Z705A_HUMAN zinc finger protein 705A 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Kidney(36;0.0877) GTAATCTTTTCTCCCCTAAAC 0.373 NaN 0 0 0 1 0 43 227 PZP 5858 broad.mit.edu 37 12 9305777 9305777 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:9305777C>G uc001qvl.2 - 30 3966 c.3937G>C c.(3937-3939)GAG>CAG p.E1313Q PZP_uc009zgl.2_Missense_Mutation_p.E1099Q NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 CCAGGGAGCTCTGGCAATGAG 0.433 NaN 0 0 0 1 0 60 137 PZP 5858 broad.mit.edu 37 12 9321515 9321515 + Nonsense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:9321515G>C uc001qvl.2 - 17 2086 c.2057C>G c.(2056-2058)TCA>TGA p.S686* PZP_uc009zgl.2_Nonsense_Mutation_p.S555*|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_Nonsense_Mutation_p.S18* NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 AGGGATGACTGAACACGACTT 0.368 NaN 0 0 0 1 0 12 84 DUSP16 80824 broad.mit.edu 37 12 12673996 12673996 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:12673996C>T uc001rao.1 - 2 669 c.37G>A c.(37-39)GAG>AAG p.E13K DUSP16_uc001ran.1_5'UTR NM_030640 NP_085143 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 13 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) ACCAACCTCTCAGTAACAATT 0.438 NaN 0 0 0 1 0 7 31 GSG1 83445 broad.mit.edu 37 12 13238096 13238096 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:13238096G>C uc001rbn.2 - 7 1001 c.828C>G c.(826-828)TTC>TTG p.F276L GSG1_uc001rbj.2_Missense_Mutation_p.F240L|GSG1_uc001rbk.2_Missense_Mutation_p.Q282E|GSG1_uc001rbl.2_Missense_Mutation_p.F212L|GSG1_uc001rbm.2_Missense_Mutation_p.F189L|GSG1_uc001rbo.2_Missense_Mutation_p.Q318E|GSG1_uc001rbp.2_Missense_Mutation_p.F253L|GSG1_uc001rbq.1_Missense_Mutation_p.Q318E NM_001080555 NP_001074024 Q2KHT4 GSG1_HUMAN germ cell associated 1 isoform 4 263 endoplasmic reticulum membrane|integral to membrane 0 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) GCTTGCACTTGAACTCCAGCA 0.557 NaN 0 0 0 1 0 6 58 KIAA0528 9847 broad.mit.edu 37 12 22697070 22697070 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:22697070C>T uc001rfq.2 - 2 243 c.15G>A c.(13-15)CTG>CTA p.L5L KIAA0528_uc010sis.1_Silent_p.L5L|KIAA0528_uc010sit.1_Silent_p.L5L|KIAA0528_uc010siu.1_Silent_p.L5L|KIAA0528_uc001rfr.2_Silent_p.L5L|KIAA0528_uc009ziy.1_Silent_p.L5L NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 5 C2. protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 TTTTCACCTTCAGCTTCCCTG 0.627 NaN 0 0 0 1 0 21 51 ITPR2 3709 broad.mit.edu 37 12 26714780 26714780 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:26714780C>A uc001rhg.2 - 35 5153 c.4736G>T c.(4735-4737)AGA>ATA p.R1579I NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 1579 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) AGCTGATAGTCTCCAACCCAT 0.448 NaN 1 0 3.09899e-07 1 3.31189e-07 9 52 OVCH1 341350 broad.mit.edu 37 12 29604325 29604325 + Nonsense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:29604325G>C uc001rix.1 - 22 2708 c.2708C>G c.(2707-2709)TCA>TGA p.S903* NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 903 CUB 3. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) AATTAGAACTGAGTCTTGACA 0.438 NaN 0 0 0 1 0 6 36 KIF21A 55605 broad.mit.edu 37 12 39726897 39726897 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:39726897G>A uc001rly.2 - 19 2646 c.2500C>T c.(2500-2502)CGT>TGT p.R834C KIF21A_uc001rlv.2_5'Flank|KIF21A_uc001rlw.2_Missense_Mutation_p.R151C|KIF21A_uc001rlx.2_Missense_Mutation_p.R821C|KIF21A_uc001rlz.2_Missense_Mutation_p.R798C|KIF21A_uc010skl.1_Missense_Mutation_p.R821C NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 834 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) ACTTGCCGACGAAGAGCCGTA 0.448 NaN 0 0 0 1 0 49 93 KIF21A 55605 broad.mit.edu 37 12 39751995 39751995 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:39751995G>C uc001rly.2 - 8 1346 c.1200C>G c.(1198-1200)CTC>CTG p.L400L KIF21A_uc001rlx.2_Silent_p.L400L|KIF21A_uc001rlz.2_Silent_p.L400L|KIF21A_uc010skl.1_Silent_p.L400L|KIF21A_uc001rma.1_Silent_p.L408L NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 400 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) TGTACTCCATGAGCTCCATCT 0.398 NaN 0 0 0 1 0 35 206 ABCD2 225 broad.mit.edu 37 12 40001459 40001459 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:40001459C>T uc001rmb.2 - 3 1604 c.1178G>A c.(1177-1179)CGA>CAA p.R393Q NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 393 ABC transmembrane type-1. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 CAGTAAATTTCGAGCAGTGGT 0.323 NaN 0 0 0 1 0 26 71 CNTN1 1272 broad.mit.edu 37 12 41312446 41312446 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:41312446G>A uc001rmm.1 + 4 213 c.100G>A c.(100-102)GAG>AAG p.E34K CNTN1_uc009zjy.1_Missense_Mutation_p.E34K|CNTN1_uc001rmn.1_Missense_Mutation_p.E23K|CNTN1_uc001rmo.2_Missense_Mutation_p.E34K NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 34 axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TGTAGTTTCTGAGGAAGACAA 0.323 NaN 0 0 0 1 0 7 40 PLEKHA9 51054 broad.mit.edu 37 12 45567593 45567593 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:45567593C>T uc001rom.1 - 3 1093 c.556G>A c.(556-558)GAG>AAG p.E186K PLEKHA9_uc009zke.2_Missense_Mutation_p.E186K NM_015899 NP_056983 pleckstrin homology domain containing, family A 0 Lung SC(27;0.192)|Renal(347;0.236) GBM - Glioblastoma multiforme(48;0.173) TTGCCTTCCTCCCAGAGGCAT 0.403 NaN 0 0 0 1 0 79 114 TMEM106C 79022 broad.mit.edu 37 12 48358114 48358114 + Missense_Mutation SNP A A T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:48358114A>T uc001rqp.2 + 2 210 c.95A>T c.(94-96)GAA>GTA p.E32V TMEM106C_uc001rqo.2_Missense_Mutation_p.E32V|TMEM106C_uc001rqr.2_Missense_Mutation_p.E32V|TMEM106C_uc001rqq.2_Missense_Mutation_p.E32V NM_024056 NP_076961 Q9BVX2 T106C_HUMAN transmembrane protein 106C isoform a 32 endoplasmic reticulum membrane|integral to membrane 0 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) CGAGAGCAGGAAGAAGCCATT 0.562 NaN 0 0 0 1 0 8 38 SENP1 29843 broad.mit.edu 37 12 48482603 48482603 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:48482603C>T uc001rqx.2 - 5 807 c.361G>A c.(361-363)GAA>AAA p.E121K SENP1_uc001rqw.2_Missense_Mutation_p.E121K|SENP1_uc001rqy.2_5'UTR|SENP1_uc001rqz.2_5'UTR|SENP1_uc009zkx.2_Missense_Mutation_p.E121K NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN sentrin/SUMO-specific protease 1 121 Ser-rich. activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity pancreas(2)|lung(1) 3 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) TTTCGGGTTTCGAGGTAAAGA 0.403 NaN 0 0 0 1 0 5 9 OR10AD1 121275 broad.mit.edu 37 12 48597027 48597027 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:48597027G>T uc001rrl.1 - 1 49 c.49C>A c.(49-51)CAG>AAG p.Q17K NM_001004134 NP_001004134 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, 17 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GAGCTCTGCTGAAAGCCCACG 0.507 NaN 1 0 0.248553 1 0.24875 6 52 MLL2 8085 broad.mit.edu 37 12 49420241 49420241 + Nonsense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:49420241G>A uc001rta.3 - 48 15508 c.15508C>T c.(15508-15510)CAG>TAG p.Q5170* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5170 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TCTCCCCGCTGAATGATGCTA 0.572 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 1 0 5 43 FMNL3 91010 broad.mit.edu 37 12 50047084 50047084 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:50047084C>G uc001ruv.1 - 13 1482 c.1248G>C c.(1246-1248)GAG>GAC p.E416D FMNL3_uc001ruw.1_Missense_Mutation_p.E365D|FMNL3_uc001rut.1_5'Flank|FMNL3_uc001ruu.1_Missense_Mutation_p.E266D NM_175736 NP_783863 Q8IVF7 FMNL3_HUMAN formin-like 3 isoform 1 416 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding breast(2)|pancreas(2) 4 TGTTTTCATTCTCTAGGTCCA 0.532 NaN 0 0 0 1 0 25 128 LIMA1 51474 broad.mit.edu 37 12 50570907 50570907 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:50570907G>C uc001rwj.3 - 11 2394 c.2220C>G c.(2218-2220)CTC>CTG p.L740L LIMA1_uc001rwg.3_Silent_p.L438L|LIMA1_uc001rwh.3_Silent_p.L579L|LIMA1_uc001rwi.3_Silent_p.L581L|LIMA1_uc001rwk.3_Silent_p.L741L|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 740 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 CTTCCACAGAGAGCTCTTTGA 0.423 NaN 0 0 0 1 0 60 274 KRT6A 3853 broad.mit.edu 37 12 52882123 52882123 + Silent SNP A A G rs1132960 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:52882123A>G uc001sam.2 - 7 1622 c.1413T>C c.(1411-1413)GGT>GGC p.G471G NM_005554 NP_005545 P02538 K2C6A_HUMAN keratin 6A 471 Rod.|Coil 2. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton ovary(4)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.189) TGCACTCCTCACCCTCCAGCA 0.577 NaN 0 0 0 1 0 18 101 KRT5 3852 broad.mit.edu 37 12 52913532 52913532 + Silent SNP G G A rs61726460 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:52913532G>A uc001san.2 - 1 712 c.549C>T c.(547-549)ATC>ATT p.I183I KRT5_uc009zmh.2_Silent_p.I183I NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 183 Coil 1A.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) TCACCTTGTCGATGAAGGAGG 0.468 NaN 0 0 0 1 0 28 100 RARG 5916 broad.mit.edu 37 12 53608346 53608346 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:53608346C>T uc001sce.2 - 6 1005 c.520G>A c.(520-522)GAA>AAA p.E174K RARG_uc001scd.2_Missense_Mutation_p.E163K|RARG_uc010sob.1_Missense_Mutation_p.E152K|RARG_uc001scf.2_Missense_Mutation_p.E174K|RARG_uc001scg.2_Missense_Mutation_p.E102K|RARG_uc010soc.1_Missense_Mutation_p.E53K|RARG_uc010sod.1_Missense_Mutation_p.E211K NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 174 Hinge. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GGTGACCCTTCTTCCTTCACC 0.557 NaN 0 0 0 1 0 11 25 SP7 121340 broad.mit.edu 37 12 53722170 53722170 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:53722170C>T uc001sct.2 - 2 1163 c.1056G>A c.(1054-1056)AAG>AAA p.K352K SP7_uc001scu.2_Silent_p.K334K|SP7_uc001scv.2_Silent_p.K352K NM_152860 NP_690599 Q8TDD2 SP7_HUMAN osterix 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGGTGAACTTCTTCTCCCGGG 0.622 NaN OREG0021867 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 13 49 SP1 6667 broad.mit.edu 37 12 53776785 53776785 + Nonsense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:53776785C>T uc001scw.2 + 3 1151 c.1054C>T c.(1054-1056)CAA>TAA p.Q352* SP1_uc010sog.1_Nonsense_Mutation_p.Q345* NM_138473 NP_612482 P08047 SP1_HUMAN Sp1 transcription factor isoform a 352 Transactivation domain B (Gln-rich).|Ser/Thr-rich. positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(357;0.00527) GACCAACTCTCAAGGCCAGAC 0.502 NaN 0 0 0 1 0 8 49 SP1 6667 broad.mit.edu 37 12 53777068 53777068 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:53777068C>G uc001scw.2 + 3 1434 c.1337C>G c.(1336-1338)TCT>TGT p.S446C SP1_uc010sog.1_Missense_Mutation_p.S439C NM_138473 NP_612482 P08047 SP1_HUMAN Sp1 transcription factor isoform a 446 Transactivation domain B (Gln-rich). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(357;0.00527) GTTCCAAACTCTGGTCCCATC 0.557 NaN 0 0 0 1 0 19 86 AMHR2 269 broad.mit.edu 37 12 53825228 53825228 + Nonsense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:53825228C>T uc001scx.1 + 11 1771 c.1693C>T c.(1693-1695)CAG>TAG p.Q565* AMHR2_uc009zmy.1_3'UTR NM_020547 NP_065434 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II isoform 565 Cytoplasmic (Potential). Mullerian duct regression ATP binding|hormone binding|metal ion binding ovary(1)|skin(1) 2 Adenosine triphosphate(DB00171) CAGGAATCCTCAGCCTGCCTG 0.498 NaN Persistant_Mullerian_Duct_Syndrome_(type_I_and_II) 0 0 0 1 0 32 45 MAP3K12 7786 broad.mit.edu 37 12 53881144 53881144 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:53881144G>A uc001sdm.1 - 2 130 c.32C>T c.(31-33)TCT>TTT p.S11F MAP3K12_uc001sdn.1_Missense_Mutation_p.S11F NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 11 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 AAAGGAAGGAGAGGGTGTTCG 0.597 NaN 0 0 0 1 0 26 47 HOXC8 3224 broad.mit.edu 37 12 54403245 54403245 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:54403245C>G uc001ser.2 + 1 356 c.177C>G c.(175-177)TTC>TTG p.F59L NM_022658 NP_073149 P31273 HXC8_HUMAN homeobox C8 59 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TTCAAGACTTCTTCCACCACG 0.652 NaN 0 0 0 1 0 30 171 NCKAP1L 3071 broad.mit.edu 37 12 54917701 54917701 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:54917701C>G uc001sgc.3 + 20 2196 c.2117C>G c.(2116-2118)TCT>TGT p.S706C NCKAP1L_uc010sox.1_Missense_Mutation_p.S248C|NCKAP1L_uc010soy.1_Missense_Mutation_p.S656C NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 706 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 ATCTTCCCTTCTGAGTACCTC 0.448 NaN 0 0 0 1 0 9 67 DGKA 1606 broad.mit.edu 37 12 56347534 56347534 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:56347534C>A uc001sij.2 + 24 2454 c.2190C>A c.(2188-2190)TTC>TTA p.F730L DGKA_uc001sik.2_Missense_Mutation_p.F730L|DGKA_uc001sil.2_Missense_Mutation_p.F730L|DGKA_uc001sim.2_Missense_Mutation_p.F730L|DGKA_uc001sin.2_Missense_Mutation_p.F730L|DGKA_uc009zof.2_Missense_Mutation_p.F376L|DGKA_uc001sio.2_Missense_Mutation_p.F472L NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 730 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) CCACCAATTTCTTTGGCTTCT 0.582 NaN 1 0 1.02788e-11 1 1.15021e-11 17 47 OBFC2B 79035 broad.mit.edu 37 12 56618691 56618691 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:56618691G>T uc001ski.2 + 2 175 c.51G>T c.(49-51)CTG>CTT p.L17L OBFC2B_uc001skk.2_Silent_p.L42L|OBFC2B_uc001skj.2_Silent_p.L33L|RNF41_uc001ske.1_5'Flank|RNF41_uc001skf.1_5'Flank|RNF41_uc001skg.1_5'Flank|RNF41_uc010sqg.1_5'Flank|RNF41_uc010sqh.1_5'Flank|RNF41_uc001skh.2_5'Flank NM_024068 NP_076973 Q9BQ15 SOSB1_HUMAN oligonucleotide/oligosaccharide-binding fold 17 double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation SOSS complex protein binding|single-stranded DNA binding ovary(1) 1 TCAAGAATCTGAACCTTATCT 0.577 NaN Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function OREG0021922 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 8.12818e-05 1 8.44313e-05 6 52 PAN2 9924 broad.mit.edu 37 12 56715866 56715866 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:56715866C>T uc001skx.2 - 20 3169 c.2796G>A c.(2794-2796)CTG>CTA p.L932L PAN2_uc001skw.2_Silent_p.L80L|PAN2_uc001skz.2_Silent_p.L931L|PAN2_uc001sky.2_Silent_p.L928L NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 932 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 ACTTACTGTTCAGGTTGTATC 0.408 NaN 0 0 0 1 0 53 83 OSBPL8 114882 broad.mit.edu 37 12 76750481 76750481 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:76750481C>A uc001sye.1 - 23 2942 c.2462G>T c.(2461-2463)AGA>ATA p.R821I OSBPL8_uc001syf.1_Missense_Mutation_p.R779I|OSBPL8_uc001syg.1_Missense_Mutation_p.R779I NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 821 lipid transport lipid binding ovary(1) 1 TCCTTTCTTTCTTCTTGTACT 0.289 NaN 1 0 1.3612e-06 1 1.44492e-06 14 34 ATP2B1 490 broad.mit.edu 37 12 89996871 89996871 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:89996871G>A uc001tbh.2 - 17 3190 c.3009C>T c.(3007-3009)ATC>ATT p.I1003I ATP2B1_uc001tbg.2_Silent_p.I1003I|ATP2B1_uc001tbf.2_Silent_p.I673I NM_001682 NP_001673 P20020 AT2B1_HUMAN plasma membrane calcium ATPase 1 isoform 1b 1003 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 CATTGTTAAAGATTCCTTCGA 0.343 NaN 0 0 0 1 0 17 45 ANO4 121601 broad.mit.edu 37 12 101442134 101442134 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:101442134G>A uc010svm.1 + 14 1839 c.1267G>A c.(1267-1269)GAC>AAC p.D423N ANO4_uc001thw.2_Missense_Mutation_p.D388N|ANO4_uc001thx.2_Missense_Mutation_p.D423N|ANO4_uc001thy.2_5'UTR NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 423 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 CCACCTTTTTGACAATGGAGC 0.343 NaN HNSCC(74;0.22) 0 0 0 1 0 15 65 UTP20 27340 broad.mit.edu 37 12 101702091 101702091 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:101702091G>C uc001tia.1 + 18 2280 c.2124G>C c.(2122-2124)CAG>CAC p.Q708H NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 708 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 ATGTGGTACAGACTGCTGTCC 0.383 NaN 0 0 0 1 0 14 52 CMKLR1 1240 broad.mit.edu 37 12 108685927 108685927 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:108685927G>A uc009zuw.2 - 3 1004 c.813C>T c.(811-813)CTC>CTT p.L271L CMKLR1_uc001tmw.2_Silent_p.L271L|CMKLR1_uc001tmv.2_Silent_p.L269L|CMKLR1_uc009zuv.2_Silent_p.L271L NM_001142345 NP_001135817 Q99788 CML1_HUMAN chemokine-like receptor 1 isoform a 271 Helical; Name=6; (Potential). chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity lung(3)|ovary(1)|pancreas(1) 5 GGCACCAGCAGAGGAAGAAGG 0.562 NaN 0 0 0 1 0 8 39 ACACB 32 broad.mit.edu 37 12 109577219 109577219 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:109577219G>A uc001tob.2 + 2 128 c.9G>A c.(7-9)TTG>TTA p.L3L ACACB_uc001toc.2_Silent_p.L3L NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 3 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GAATGGTCTTGCTTCTTTGTC 0.388 NaN 0 0 0 1 0 24 31 ACAD10 80724 broad.mit.edu 37 12 112187122 112187122 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:112187122G>C uc001tsq.2 + 18 2990 c.2790G>C c.(2788-2790)GAG>GAC p.E930D ACAD10_uc009zvx.2_Missense_Mutation_p.E961D|ACAD10_uc001tss.1_Intron NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 930 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 GGTTCTCAGAGAGGGCCCTGG 0.617 NaN 0 0 0 1 0 11 65 OAS1 4938 broad.mit.edu 37 12 113348980 113348980 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:113348980G>A uc001tud.2 + 3 700 c.594G>A c.(592-594)CTG>CTA p.L198L OAS1_uc010syn.1_Silent_p.L197L|OAS1_uc010syo.1_Missense_Mutation_p.E182K|OAS1_uc001tub.2_Silent_p.L198L|OAS1_uc001tuc.2_Silent_p.L198L|OAS1_uc009zwf.2_Silent_p.L197L NM_016816 NP_058132 P00973 OAS1_HUMAN 2',5'-oligoadenylate synthetase 1 isoform 1 198 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(2) 2 GAGACTTCCTGAAGCAGCGCC 0.562 NaN 0 0 0 1 0 12 64 C12orf43 64897 broad.mit.edu 37 12 121454196 121454196 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:121454196C>T uc001tzh.1 - 1 105 c.82G>A c.(82-84)GAG>AAG p.E28K C12orf43_uc009zxa.1_Missense_Mutation_p.E28K|C12orf43_uc010szo.1_5'UTR|C12orf43_uc010szp.1_Missense_Mutation_p.E28K|C12orf43_uc001tzi.1_Missense_Mutation_p.E28K NM_022895 NP_075046 Q96C57 CL043_HUMAN hypothetical protein LOC64897 28 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ATTGCCGCCTCGCGGCACCGC 0.637 NaN 0 0 0 1 0 18 38 CAMKK2 10645 broad.mit.edu 37 12 121711915 121711915 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:121711915G>C uc001tzu.2 - 2 539 c.415C>G c.(415-417)CGG>GGG p.R139G CAMKK2_uc001tzt.2_Missense_Mutation_p.R139G|CAMKK2_uc001tzv.2_Missense_Mutation_p.R139G|CAMKK2_uc001tzw.2_Missense_Mutation_p.R139G|CAMKK2_uc001tzx.2_Missense_Mutation_p.R139G|CAMKK2_uc001tzy.2_Missense_Mutation_p.R139G|CAMKK2_uc001uaa.1_Missense_Mutation_p.R139G|CAMKK2_uc001uab.2_Missense_Mutation_p.R139G|CAMKK2_uc001uac.2_Missense_Mutation_p.R139G|CAMKK2_uc001uad.1_Missense_Mutation_p.R139G NM_006549 NP_006540 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase 139 calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity lung(1)|large_intestine(1)|stomach(1) 3 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CGGGGCAGCCGAGGCGAGGAC 0.697 NaN 0 0 0 1 0 3 6 DNAH10 196385 broad.mit.edu 37 12 124298139 124298139 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:124298139C>A uc001uft.3 + 19 3244 c.3219C>A c.(3217-3219)CTC>CTA p.L1073L DNAH10_uc010tav.1_Silent_p.L615L|DNAH10_uc010taw.1_Silent_p.L558L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1073 Stem (By similarity).|Potential. microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GAAAACTTCTCAATGAGTCAG 0.428 NaN 1 0 1.08611e-07 1 1.16965e-07 12 51 SCARB1 949 broad.mit.edu 37 12 125270804 125270804 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:125270804C>G uc001ugo.3 - 11 1753 c.1500G>C c.(1498-1500)TGG>TGC p.W500C SCARB1_uc001ugn.3_Intron|SCARB1_uc001ugm.3_Intron|SCARB1_uc010tbd.1_Intron|SCARB1_uc010tbe.1_Missense_Mutation_p.W459C|SCARB1_uc001ugp.3_Missense_Mutation_p.W500C NM_005505 NP_005496 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 isoform 1 500 Cytoplasmic (Potential). adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity kidney(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) GAGGTGGGCTCCAGGCTGCGG 0.672 NaN 0 0 0 1 0 8 34 RAN 5901 broad.mit.edu 37 12 131357396 131357396 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:131357396G>T uc001uir.2 + 3 117 c.52G>T c.(52-54)GAT>TAT p.D18Y RAN_uc010tbk.1_5'UTR|RAN_uc010tbl.1_5'UTR|RAN_uc001uis.2_Missense_Mutation_p.D38Y NM_006325 NP_006316 P62826 RAN_HUMAN ras-related nuclear protein 18 GTP (By similarity). androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle cytosol|melanosome|nuclear pore|nucleoplasm androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06) OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40) ATTGGTTGGTGATGGTGGTAC 0.423 NaN 1 0 1.56452e-12 1 1.76009e-12 19 119 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs28513925 by1000genomes TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:132547093A>G uc001ujn.2 + 46 8216 c.8181A>G c.(8179-8181)CAA>CAG p.Q2727Q EP400_uc001ujl.2_Silent_p.Q2726Q|EP400_uc001ujm.2_Silent_p.Q2646Q|EP400_uc001ujp.2_5'UTR NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2763 Poly-Gln.|Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.294 NaN 0 0 0 1 0 15 45 DDX51 317781 broad.mit.edu 37 12 132625003 132625003 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:132625003C>T uc001ujy.3 - 11 1677 c.1638G>A c.(1636-1638)ATG>ATA p.M546I NM_175066 NP_778236 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 546 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding lung(1)|pancreas(1) 2 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) GCTTCAGGATCATCCTCCTCT 0.627 NaN 0 0 0 1 0 25 69 PXMP2 5827 broad.mit.edu 37 12 133277849 133277849 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr12:133277849C>A uc001ukt.2 + 4 478 c.413C>A c.(412-414)TCA>TAA p.S138* PGAM5_uc010tbr.1_RNA NM_018663 NP_061133 Q9NR77 PXMP2_HUMAN peroxisomal membrane protein 2, 22kDa 138 Peroxisomal (Potential). integral to membrane|peroxisomal membrane protein binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06) AAAGACGCCTCAGCCTTCGCC 0.587 NaN 1 0 1.56452e-12 1 1.76009e-12 18 126 EFHA1 221154 broad.mit.edu 37 13 22077089 22077089 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:22077089C>G uc001uof.2 - 9 931 c.909G>C c.(907-909)GTG>GTC p.V303V EFHA1_uc010tct.1_Silent_p.V93V NM_152726 NP_689939 Q8IYU8 EFHA1_HUMAN EF-hand domain family, member A1 303 EF-hand 3. calcium ion binding 0 all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189) ACTTCTCTCTCACATTTTTCC 0.313 NaN 0 0 0 1 0 9 70 SPATA13 221178 broad.mit.edu 37 13 24868970 24868970 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:24868970G>C uc001upg.1 + 9 1706 c.1299G>C c.(1297-1299)AAG>AAC p.K433N SPATA13_uc001upd.1_Missense_Mutation_p.K1058N|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Missense_Mutation_p.K379N|SPATA13_uc010tcz.1_Missense_Mutation_p.K317N|SPATA13_uc010tda.1_Missense_Mutation_p.K377N|SPATA13_uc001uph.2_Missense_Mutation_p.K355N|SPATA13_uc010tdb.1_Missense_Mutation_p.K293N|SPATA13_uc009zzz.1_Intron|SPATA13_uc001upi.1_5'Flank NM_153023 NP_694568 Q96N96 SPT13_HUMAN spermatogenesis associated 13 433 cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity skin(2)|ovary(1) 3 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) GCATCGACAAGATAGCTCGCT 0.547 NaN 0 0 0 1 0 9 57 C1QTNF9 338872 broad.mit.edu 37 13 24890172 24890172 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:24890172G>A uc001upj.2 + 2 92 c.31G>A c.(31-33)GAA>AAA p.E11K C1QTNF9_uc001upe.2_RNA NM_178540 NP_848635 P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 11 collagen hormone activity 0 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) GCTTGCCATTGAAATCTGCAC 0.517 NaN 0 0 0 1 0 12 97 ATP12A 479 broad.mit.edu 37 13 25266996 25266996 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:25266996G>A uc001upp.2 + 10 1526 c.1339G>A c.(1339-1341)GAG>AAG p.E447K ATP12A_uc010aaa.2_Missense_Mutation_p.E453K NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 447 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) TAACCGAGCAGAGTTCAAGCC 0.463 NaN 0 0 0 1 0 38 267 FAM123A 219287 broad.mit.edu 37 13 25744264 25744264 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:25744264G>C uc001uqb.2 - 1 1594 c.1494C>G c.(1492-1494)ATC>ATG p.I498M FAM123A_uc001uqa.2_Missense_Mutation_p.I379M|FAM123A_uc001uqc.2_Missense_Mutation_p.I379M NM_152704 NP_689917 Q8N7J2 F123A_HUMAN hypothetical protein LOC219287 isoform 1 498 ovary(2)|large_intestine(1)|lung(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) GATGGGGCTCGATGGGAATCC 0.647 NaN 0 0 0 1 0 8 62 FRY 10129 broad.mit.edu 37 13 32811880 32811880 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:32811880G>C uc001utx.2 + 44 6671 c.6175G>C c.(6175-6177)GAA>CAA p.E2059Q FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2059 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TTTTGAGTTTGAATACTTAAT 0.498 NaN 0 0 0 1 0 12 63 BRCA2 675 broad.mit.edu 37 13 32915107 32915107 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:32915107G>T uc001uub.1 + 11 6842 c.6615G>T c.(6613-6615)GTG>GTT p.V2205V NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2205 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) ATGTTCCTGTGAAAACAAATA 0.323 NaN D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 1 0 3.67414e-24 1 4.24328e-24 35 80 KL 9365 broad.mit.edu 37 13 33628033 33628033 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:33628033C>G uc001uus.2 + 2 957 c.949C>G c.(949-951)CAA>GAA p.Q317E KL_uc001uur.1_Missense_Mutation_p.Q10E NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 317 Glycosyl hydrolase-1 1.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CAAAGAATGTCAAAAATCTCT 0.453 NaN 0 0 0 1 0 61 125 FREM2 341640 broad.mit.edu 37 13 39433440 39433440 + Missense_Mutation SNP A A G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:39433440A>G uc001uwv.2 + 14 7541 c.7232A>G c.(7231-7233)TAT>TGT p.Y2411C FREM2_uc001uww.2_Missense_Mutation_p.Y497C NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2411 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AACCCCAAATATTCAGACTAC 0.483 NaN 0 0 0 1 0 33 119 MRPS31 10240 broad.mit.edu 37 13 41341064 41341064 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:41341064C>G uc001uxm.3 - 2 333 c.258G>C c.(256-258)GAG>GAC p.E86D NM_005830 NP_005821 Q92665 RT31_HUMAN mitochondrial ribosomal protein S31 precursor 86 mitochondrion|ribosome protein domain specific binding 0 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) TGTCTTGGCTCTCTGAAGTCT 0.373 NaN 0 0 0 1 0 28 75 RB1 5925 broad.mit.edu 37 13 48947603 48947603 + Nonsense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:48947603C>G uc001vcb.2 + 12 1356 c.1190C>G c.(1189-1191)TCA>TGA p.S397* RB1_uc010act.1_Nonsense_Mutation_p.S98* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 397 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7)|p.S397fs*1(2) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GATCAACCTTCAGAAAATCTG 0.289 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 0 0 0 1 0 20 172 KLF5 688 broad.mit.edu 37 13 73636016 73636016 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:73636016G>C uc001vje.2 + 2 603 c.279G>C c.(277-279)GAG>GAC p.E93D KLF5_uc001vjd.2_Missense_Mutation_p.E2D NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 93 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) GTGAAATGGAGAAGTATCTGA 0.408 NaN 0 0 0 1 0 21 132 SCEL 8796 broad.mit.edu 37 13 78130748 78130748 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:78130748C>G uc001vki.2 + 3 231 c.61C>G c.(61-63)CAG>GAG p.Q21E SCEL_uc001vkj.2_Missense_Mutation_p.Q21E|SCEL_uc010thx.1_Missense_Mutation_p.Q21E NM_144777 NP_659001 O95171 SCEL_HUMAN sciellin isoform 1 21 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding ovary(4)|breast(1) 5 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) GAGCACCACTCAGGGAACCAC 0.433 NaN 0 0 0 1 0 42 260 MBNL2 10150 broad.mit.edu 37 13 97986587 97986587 + Nonsense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:97986587C>T uc010aft.2 + 3 1048 c.232C>T c.(232-234)CAA>TAA p.Q78* MBNL2_uc001vmz.2_Nonsense_Mutation_p.Q78*|MBNL2_uc001vna.2_Nonsense_Mutation_p.Q78*|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Nonsense_Mutation_p.Q78* NM_144778 NP_659002 Q5VZF2 MBNL2_HUMAN muscleblind-like 2 isoform 1 78 mRNA processing|regulation of RNA splicing|RNA splicing cytoplasm|nucleus RNA binding|zinc ion binding 0 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.218) CTTAAAAACTCAACTAGAAAT 0.398 NaN 0 0 0 1 0 22 54 TPP2 7174 broad.mit.edu 37 13 103286425 103286425 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:103286425G>A uc001vpi.3 + 11 1473 c.1370G>A c.(1369-1371)GGA>GAA p.G457E NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 457 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AATGCATGTGGAGGCATTGCC 0.453 NaN 0 0 0 1 0 21 73 C13orf39 196541 broad.mit.edu 37 13 103343288 103343288 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:103343288G>A uc001vpj.2 - 2 163 c.157C>T c.(157-159)CAT>TAT p.H53Y C13orf39_uc001vpk.2_Missense_Mutation_p.H53Y NM_001010977 NP_001010977 Q5VZV1 MT21C_HUMAN hypothetical protein LOC196541 53 methyltransferase activity 0 TGGAGGCTATGAAGAGATGGT 0.403 NaN 0 0 0 1 0 22 105 COL4A2 1284 broad.mit.edu 37 13 111156284 111156284 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:111156284G>A uc001vqx.2 + 44 4518 c.4229G>A c.(4228-4230)CGA>CAA p.R1410Q NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 1410 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CAGGGGAGGCGAGGCCCCCCT 0.731 NaN 0 0 0 1 0 11 31 CUL4A 8451 broad.mit.edu 37 13 113887597 113887597 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:113887597G>A uc010tjy.1 + 7 630 c.619G>A c.(619-621)GAG>AAG p.E207K CUL4A_uc010tjx.1_Missense_Mutation_p.E107K|CUL4A_uc010agu.2_Missense_Mutation_p.E68K|CUL4A_uc001vtl.1_5'Flank NM_001008895 NP_001008895 Q13619 CUL4A_HUMAN cullin 4A isoform 1 207 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding central_nervous_system(2)|skin(1) 3 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) GAGGAGCGGCGAGGCCGTGGA 0.542 NaN 0 0 0 1 0 10 57 RASA3 22821 broad.mit.edu 37 13 114765114 114765114 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:114765114C>T uc001vui.2 - 20 2010 c.1879G>A c.(1879-1881)GAG>AAG p.E627K RASA3_uc010tkk.1_Missense_Mutation_p.E595K|RASA3_uc001vuj.2_Missense_Mutation_p.E244K NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 627 PH. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) AGGATGTTCTCGATGGGAATG 0.622 NaN 0 0 0 1 0 5 47 TMEM55B 90809 broad.mit.edu 37 14 20928361 20928361 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:20928361G>T uc001vxl.2 - 3 583 c.430C>A c.(430-432)CGG>AGG p.R144R TMEM55B_uc001vxk.2_Silent_p.R151R NM_144568 NP_653169 Q86T03 TM55B_HUMAN transmembrane protein 55B isoform 2 144 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity 0 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) CAGTAGGGCCGAGGGCATGCA 0.488 NaN 1 0 4.26978e-12 1 4.79067e-12 23 32 METTL3 56339 broad.mit.edu 37 14 21979365 21979365 + Missense_Mutation SNP T T C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:21979365T>C uc001wbc.2 - 1 93 c.1A>G c.(1-3)ATG>GTG p.M1V METTL3_uc010tlw.1_RNA|METTL3_uc010tlx.1_Missense_Mutation_p.M1V|METTL3_uc001wbd.1_Missense_Mutation_p.M1V NM_019852 NP_062826 Q86U44 MTA70_HUMAN methyltransferase like 3 1 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding pancreas(1)|skin(1) 2 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) GTGTCCGACATCCTAGTCTCC 0.632 NaN 0 0 0 1 0 5 12 C14orf106 55320 broad.mit.edu 37 14 45693438 45693438 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:45693438C>T uc001wwf.2 - 11 2811 c.2352G>A c.(2350-2352)AGG>AGA p.R784R NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN chromosome 14 open reading frame 106 784 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding 0 CTTCAGCTTTCCTTTTAATTT 0.358 NaN 0 0 0 1 0 34 48 POLE2 5427 broad.mit.edu 37 14 50117145 50117145 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:50117145G>T uc001wwu.2 - 17 1349 c.1335C>A c.(1333-1335)ATC>ATA p.I445I SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Silent_p.I159I|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_Silent_p.I160I NM_002692 NP_002683 P56282 DPOE2_HUMAN DNA-directed DNA polymerase epsilon 2 445 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 DNA binding|DNA-directed DNA polymerase activity ovary(1)|skin(1) 2 all_epithelial(31;0.0021)|Breast(41;0.0124) CTTGGGATAAGATAGTCTTTA 0.358 NaN 1 0 2.35188e-11 1 2.62477e-11 19 55 PSMC6 5706 broad.mit.edu 37 14 53178177 53178177 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:53178177G>A uc010tqx.1 + 6 418 c.418G>A c.(418-420)GAC>AAC p.D140N PSMC6_uc010tqw.1_Missense_Mutation_p.D106N NM_002806 NP_002797 P62333 PRS10_HUMAN proteasome 26S ATPase subunit 6 126 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|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging lung(1) 1 Breast(41;0.176) GTCTCATGAGGACCCTGGGAA 0.393 NaN 0 0 0 1 0 48 62 C14orf135 64430 broad.mit.edu 37 14 60591695 60591695 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:60591695G>C uc001xer.3 + 8 2626 c.2104G>C c.(2104-2106)GAC>CAC p.D702H C14orf135_uc001xeq.2_Missense_Mutation_p.D702H|C14orf135_uc010apm.2_RNA NM_022495 NP_071940 Q63HM2 CN135_HUMAN hepatitis C virus F protein-binding protein 2 936 integral to membrane ovary(2) 2 Myeloproliferative disorder(585;0.163) OV - Ovarian serous cystadenocarcinoma(108;0.127) ATTTCCAGAAGACTGGTACCA 0.413 NaN 0 0 0 1 0 31 69 C14orf50 145376 broad.mit.edu 37 14 65041219 65041219 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:65041219G>C uc001xhl.1 + 8 676 c.580G>C c.(580-582)GAA>CAA p.E194Q NM_172365 NP_758953 Q96LQ0 CN050_HUMAN hypothetical protein LOC145376 194 skin(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488) AAGTGAATTAGAAGCAGCACA 0.433 NaN 0 0 0 1 0 16 51 SIPA1L1 26037 broad.mit.edu 37 14 72200447 72200447 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:72200447C>T uc001xms.2 + 19 5337 c.4989C>T c.(4987-4989)CCC>CCT p.P1663P SIPA1L1_uc001xmt.2_Silent_p.P1642P|SIPA1L1_uc001xmu.2_Silent_p.P1642P|SIPA1L1_uc001xmv.2_Silent_p.P1663P|SIPA1L1_uc010ttm.1_Silent_p.P1117P|SIPA1L1_uc001xmw.2_Silent_p.P428P NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1663 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) AGCCTATGCCCGACCCTGGCC 0.587 NaN 0 0 0 1 0 13 23 RBM25 58517 broad.mit.edu 37 14 73581010 73581010 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:73581010C>T uc001xno.2 + 18 2616 c.2408C>T c.(2407-2409)TCA>TTA p.S803L RBM25_uc010ttu.1_Missense_Mutation_p.S803L|RBM25_uc001xnp.2_Missense_Mutation_p.S598L NM_021239 NP_067062 P49756 RBM25_HUMAN RNA binding motif protein 25 803 PWI. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) GCTCATAGTTCACCCCAGAGC 0.219 NaN 0 0 0 1 0 42 71 PAPLN 89932 broad.mit.edu 37 14 73712862 73712862 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:73712862C>T uc010ttx.1 + 4 476 c.313C>T c.(313-315)CGG>TGG p.R105W PAPLN_uc001xnw.3_Missense_Mutation_p.R105W|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.R105W|uc001xnx.2_5'Flank NM_173462 NP_775733 O95428 PPN_HUMAN papilin 105 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GCGGCGGTATCGGTGGCTGCC 0.667 NaN 0 0 0 1 0 3 9 ACOT2 10965 broad.mit.edu 37 14 74036029 74036029 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:74036029C>G uc001xon.3 + 1 258 c.85C>G c.(85-87)CGA>GGA p.R29G ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_5'UTR NM_006821 NP_006812 P49753 ACOT2_HUMAN acyl-CoA thioesterase 2 29 acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process mitochondrion carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639) TGCTGTCCTTCGAGCGTCCCG 0.557 NaN 0 0 0 1 0 63 56 DLST 1743 broad.mit.edu 37 14 75359643 75359643 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:75359643G>C uc001xqv.2 + 8 612 c.549G>C c.(547-549)CAG>CAC p.Q183H DLST_uc001xqu.2_Missense_Mutation_p.Q95H|DLST_uc001xqt.2_Missense_Mutation_p.Q99H|DLST_uc010tuw.1_Missense_Mutation_p.Q97H|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.Q183H NM_001933 NP_001924 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 183 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00698) TACCCACTCAGATGCCACCGG 0.587 NaN 0 0 0 1 0 9 61 EIF2B2 8892 broad.mit.edu 37 14 75470262 75470262 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:75470262G>A uc001xrc.1 + 3 375 c.293G>A c.(292-294)GGA>GAA p.G98E NM_014239 NP_055054 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, 98 RLHGRSD -> DSMDAAT (in Ref. 2; AAC42002). cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00661) AGACTCCATGGACGCAGCGAC 0.537 NaN 0 0 0 1 0 44 49 EIF2B2 8892 broad.mit.edu 37 14 75475859 75475859 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:75475859G>A uc001xrc.1 + 8 1106 c.1024G>A c.(1024-1026)GAA>AAA p.E342K NM_014239 NP_055054 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, 342 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00661) CCTGATGAGTGAACTCTACCA 0.473 NaN 0 0 0 1 0 49 291 FLVCR2 55640 broad.mit.edu 37 14 76045894 76045894 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:76045894C>T uc001xrs.2 + 1 955 c.579C>T c.(577-579)TTC>TTT p.F193F NM_017791 NP_060261 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular 193 Helical; (Potential). transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity 0 BRCA - Breast invasive adenocarcinoma(234;0.029) CCCAGGTTTTCATCCTGGGCA 0.602 NaN 0 0 0 1 0 54 63 TMEM63C 57156 broad.mit.edu 37 14 77712285 77712285 + Nonsense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:77712285C>G uc001xtf.2 + 17 1663 c.1451C>G c.(1450-1452)TCA>TGA p.S484* TMEM63C_uc010asq.1_Nonsense_Mutation_p.S484* NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 484 integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) CCTTCTAGATCAAGTCAGAAT 0.418 NaN 0 0 0 1 0 12 160 FAM181A 90050 broad.mit.edu 37 14 94394796 94394796 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:94394796C>A uc001ybz.1 + 3 658 c.351C>A c.(349-351)CTC>CTA p.L117L C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.L55L|FAM181A_uc001yca.1_Silent_p.L55L NM_138344 NP_612353 Q8N9Y4 F181A_HUMAN hypothetical protein LOC90050 117 0 ATTCCCGGCTCCCGCGGGGCC 0.647 NaN 1 0 1.3612e-06 1 1.44492e-06 16 19 GSC 145258 broad.mit.edu 37 14 95234906 95234906 + Nonsense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:95234906C>T uc001ydu.2 - 3 843 c.696G>A c.(694-696)TGG>TGA p.W232* NM_173849 NP_776248 P56915 GSC_HUMAN goosecoid 232 gastrulation|middle ear morphogenesis sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(154;0.0896)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239) ACGTCTTGTTCCACTTCTCCG 0.597 NaN 0 0 0 1 0 24 178 ATG2B 55102 broad.mit.edu 37 14 96792138 96792138 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:96792138C>T uc001yfi.2 - 15 2650 c.2285G>A c.(2284-2286)CGA>CAA p.R762Q NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 762 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TTGATCAGATCGAAGATCAGG 0.383 NaN 0 0 0 1 0 37 118 ATG2B 55102 broad.mit.edu 37 14 96807901 96807901 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:96807901C>T uc001yfi.2 - 6 1247 c.882G>A c.(880-882)TTG>TTA p.L294L NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 294 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) ACGTGAGACTCAACTCCAACC 0.388 NaN 0 0 0 1 0 83 84 AK7 122481 broad.mit.edu 37 14 96944839 96944839 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:96944839G>A uc001yfn.2 + 15 1637 c.1593G>A c.(1591-1593)CTG>CTA p.L531L NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 531 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) ATGAGTTTCTGAAGGAGCGTG 0.542 NaN 0 0 0 1 0 22 164 PAPOLA 10914 broad.mit.edu 37 14 97009217 97009217 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:97009217G>A uc001yfq.2 + 14 1486 c.1276G>A c.(1276-1278)GAA>AAA p.E426K PAPOLA_uc001yfr.2_Missense_Mutation_p.E426K|PAPOLA_uc010twv.1_Missense_Mutation_p.E426K|PAPOLA_uc010avp.2_Missense_Mutation_p.E176K NM_032632 NP_116021 P51003 PAPOA_HUMAN poly(A) polymerase alpha 426 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding 0 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) AGCACCCAAAGAAAATCCCGA 0.358 NaN 0 0 0 1 0 23 194 RTL1 388015 broad.mit.edu 37 14 101348170 101348170 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:101348170C>T uc010txj.1 - 1 3015 c.2956G>A c.(2956-2958)GAA>AAA p.E986K MIR433_hsa-mir-433|MI0001723_5'Flank|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank NM_001134888 NP_001128360 A6NKG5 RTL1_HUMAN retrotransposon-like 1 986 pancreas(1) 1 CCGTCTTGTTCTGGCAGCTCC 0.582 NaN 0 0 0 1 0 22 140 XRCC3 7517 broad.mit.edu 37 14 104165273 104165273 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:104165273G>T uc001yny.3 - 10 1283 c.903C>A c.(901-903)CTC>CTA p.L301L KLC1_uc010tyf.1_Intron|KLC1_uc001yno.2_Intron|KLC1_uc001yns.2_Intron|XRCC3_uc001ynx.3_Silent_p.L301L|XRCC3_uc001ynz.3_Silent_p.L301L|XRCC3_uc001yoa.3_Silent_p.L301L NM_005432 NP_005423 O43542 XRCC3_HUMAN X-ray repair cross complementing protein 3 301 DNA recombination|DNA repair mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 Melanoma(154;0.155)|all_epithelial(191;0.19) Epithelial(152;0.239) CTTCCTCGCGGAGCCGGTCAG 0.657 NaN Direct_reversal_of_damage|Homologous_recombination 1 0 4.68919e-08 1 5.05854e-08 11 12 PPP1R13B 23368 broad.mit.edu 37 14 104201510 104201510 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:104201510C>T uc001yof.1 - 17 3537 c.3254G>A c.(3253-3255)CGA>CAA p.R1085Q PPP1R13B_uc010awv.1_RNA NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 1085 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) TGTTCGCTGTCGGGGTTTGAT 0.577 NaN 0 0 0 1 0 13 78 TDRD9 122402 broad.mit.edu 37 14 104464977 104464977 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:104464977G>C uc001yom.3 + 13 1425 c.1395G>C c.(1393-1395)TTG>TTC p.L465F TDRD9_uc001yon.3_Missense_Mutation_p.L203F NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 465 Helicase C-terminal. cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) ATTTTTGTTTGACTAGAACTT 0.338 NaN 0 0 0 1 0 44 122 MTA1 9112 broad.mit.edu 37 14 105927222 105927222 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr14:105927222G>C uc001yqx.2 + 10 1061 c.874G>C c.(874-876)GAG>CAG p.E292Q MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Missense_Mutation_p.E206Q|MTA1_uc001yra.1_Missense_Mutation_p.E206Q|MTA1_uc001yrb.2_Missense_Mutation_p.E53Q NM_004689 NP_004680 Q13330 MTA1_HUMAN metastasis associated protein 292 SANT. signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1) 2 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) GTCTGCATCAGAGGCCAACCT 0.577 NaN 0 0 0 1 0 17 51 FMN1 342184 broad.mit.edu 37 15 33359341 33359341 + Nonsense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:33359341G>A uc001zhf.3 - 1 745 c.745C>T c.(745-747)CAG>TAG p.Q249* FMN1_uc001zhg.2_Nonsense_Mutation_p.Q249* NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CTCGAATTCTGGTTTGTTACT 0.507 NaN 0 0 0 1 0 37 80 C15orf55 256646 broad.mit.edu 37 15 34649344 34649344 + Silent SNP C C T rs7163178 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:34649344C>T uc001zif.2 + 7 3206 c.3051C>T c.(3049-3051)CTC>CTT p.L1017L C15orf55_uc010ucc.1_Silent_p.L1045L|C15orf55_uc010ucd.1_Silent_p.L1035L NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 1017 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) ATGAGGAACTCTCCAACTTTG 0.502 NaN T BRD3|BRD4 lethal midline carcinoma 0 0 0 1 0 13 50 CASC5 57082 broad.mit.edu 37 15 40913088 40913088 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:40913088C>T uc010bbs.1 + 11 865 c.704C>T c.(703-705)TCA>TTA p.S235L CASC5_uc010ucq.1_Missense_Mutation_p.S59L|CASC5_uc001zme.2_Missense_Mutation_p.S209L|CASC5_uc010bbt.1_Missense_Mutation_p.S209L NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 235 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) AACACTTCTTCAGAAAATAAA 0.308 NaN 0 0 0 1 0 10 49 FAM82A2 55177 broad.mit.edu 37 15 41044242 41044242 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:41044242C>A uc001zmo.1 - 3 466 c.322G>T c.(322-324)GTG>TTG p.V108L FAM82A2_uc001zmp.1_Missense_Mutation_p.V108L|FAM82A2_uc001zmq.1_Missense_Mutation_p.V108L NM_018145 NP_060615 Q96TC7 RMD3_HUMAN family with sequence similarity 82, member A2 108 Potential. apoptosis|cell differentiation integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole protein binding 0 AGCTCCTCCACCTCCCGCCGC 0.632 NaN 1 0 3.09899e-07 1 3.31189e-07 7 81 MGA 23269 broad.mit.edu 37 15 42046702 42046702 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:42046702C>T uc010ucy.1 + 18 7257 c.7076C>T c.(7075-7077)TCA>TTA p.S2359L MGA_uc010ucz.1_Missense_Mutation_p.S2150L|MGA_uc010uda.1_Missense_Mutation_p.S975L NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2320 Basic motif. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GAAGAGCTCTCAGAGGAAATT 0.383 NaN 0 0 0 1 0 3 5 MGA 23269 broad.mit.edu 37 15 42046722 42046722 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:42046722C>T uc010ucy.1 + 18 7277 c.7096C>T c.(7096-7098)CAC>TAC p.H2366Y MGA_uc010ucz.1_Missense_Mutation_p.H2157Y|MGA_uc010uda.1_Missense_Mutation_p.H982Y NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2327 Basic motif. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TAATGTTGCTCACCTGAAGAC 0.398 NaN 0 0 0 1 0 3 4 SPTBN5 51332 broad.mit.edu 37 15 42185575 42185575 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:42185575C>T uc001zos.2 - 2 349 c.16G>A c.(16-18)GAG>AAG p.E6K uc010bcp.1_RNA NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 41 Actin-binding. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TGGCCCGTCTCGTACTGAGAG 0.622 NaN 0 0 0 1 0 7 31 TP53BP1 7158 broad.mit.edu 37 15 43739643 43739643 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:43739643G>A uc001zrs.2 - 13 2890 c.2742C>T c.(2740-2742)ATC>ATT p.I914I TP53BP1_uc010udp.1_Silent_p.I914I|TP53BP1_uc001zrq.3_Silent_p.I919I|TP53BP1_uc001zrr.3_Silent_p.I919I|TP53BP1_uc010udq.1_Silent_p.I919I NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 914 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) ATGGTGGGATGATATCACCTT 0.323 NaN Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 0 0 0 1 0 32 59 MAP1A 4130 broad.mit.edu 37 15 43814035 43814035 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:43814035G>A uc001zrt.2 + 4 831 c.364G>A c.(364-366)GAC>AAC p.D122N NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 122 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) CAGTTACAGCGACTGGGTGAA 0.552 NaN 0 0 0 1 0 22 70 EIF3J 8669 broad.mit.edu 37 15 44849735 44849735 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:44849735G>C uc001ztv.2 + 6 585 c.458G>C c.(457-459)AGA>ACA p.R153T EIF3J_uc010ueg.1_Intron|EIF3J_uc001ztw.2_Missense_Mutation_p.R104T NM_003758 NP_003749 O75822 EIF3J_HUMAN eukaryotic translation initiation factor 3, 153 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity 0 all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758) CCATCTTCAAGAGATGACTTT 0.318 NaN 0 0 0 1 0 14 58 SPG11 80208 broad.mit.edu 37 15 44900791 44900791 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:44900791C>A uc001ztx.2 - 19 3335 c.3304G>T c.(3304-3306)GAA>TAA p.E1102* SPG11_uc010ueh.1_Nonsense_Mutation_p.E1102*|SPG11_uc010uei.1_Nonsense_Mutation_p.E1102* NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1102 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TCATTTTCTTCATTCTGAACA 0.373 NaN 1 0 0.184627 1 0.184921 5 28 DUOX1 53905 broad.mit.edu 37 15 45424173 45424173 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:45424173C>T uc001zus.1 + 3 355 c.9C>T c.(7-9)TTC>TTT p.F3F DUOXA1_uc001zup.2_5'Flank|DUOXA1_uc010bec.2_5'Flank|DUOXA1_uc001zur.1_5'Flank|DUOXA1_uc010bed.1_5'Flank|DUOX1_uc001zut.1_Silent_p.F3F|DUOX1_uc010bee.1_5'UTR NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 3 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) TCATGGGCTTCTGCCTGGCTC 0.507 NaN 0 0 0 1 0 16 66 FBN1 2200 broad.mit.edu 37 15 48720649 48720649 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:48720649C>T uc001zwx.1 - 57 7219 c.6891G>A c.(6889-6891)ACG>ACA p.T2297T FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 2297 EGF-like 40; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TCCCTGGCTTCGTCTGACATT 0.448 NaN 0 0 0 1 0 6 39 FBN1 2200 broad.mit.edu 37 15 48791227 48791227 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:48791227G>C uc001zwx.1 - 18 2450 c.2122C>G c.(2122-2124)CAG>GAG p.Q708E NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 708 TB 3. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CAGAGTGCCTGATATTCCGCT 0.453 NaN 0 0 0 1 0 22 105 ONECUT1 3175 broad.mit.edu 37 15 53081808 53081808 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:53081808C>A uc002aci.1 - 1 402 c.274G>T c.(274-276)GAG>TAG p.E92* NM_004498 NP_004489 Q9UBC0 HNF6_HUMAN one cut homeobox 1 92 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding 0 all cancers(107;0.0708) GGGGGAGTCTCGCAGGCCATG 0.657 NaN 1 0 3.09899e-07 1 3.31189e-07 9 12 IGDCC4 57722 broad.mit.edu 37 15 65687479 65687479 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:65687479C>T uc002aou.1 - 8 1739 c.1529G>A c.(1528-1530)GGA>GAA p.G510E IGDCC4_uc002aot.1_Missense_Mutation_p.G98E NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 510 Extracellular (Potential).|Fibronectin type-III 1. integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 GCGGCTGGCTCCCAGCTGGGA 0.567 NaN 0 0 0 1 0 9 28 ITGA11 22801 broad.mit.edu 37 15 68596209 68596209 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:68596209G>T uc002ari.2 - 29 3483 c.3396C>A c.(3394-3396)ATC>ATA p.I1132I ITGA11_uc010bib.2_Silent_p.I1133I NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 1132 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) CTTGCTTGGAGATCTCAAACA 0.637 NaN 1 0 5.50884e-06 1 5.79878e-06 12 49 TLE3 7090 broad.mit.edu 37 15 70347433 70347433 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:70347433G>T uc002asm.2 - 15 2661 c.1542C>A c.(1540-1542)ATC>ATA p.I514I TLE3_uc002ask.2_Silent_p.I441I|TLE3_uc002asl.2_Silent_p.I514I|TLE3_uc010ukd.1_Silent_p.I504I|TLE3_uc010bik.1_Silent_p.I95I|TLE3_uc010bil.1_Silent_p.I511I|TLE3_uc002asn.2_Silent_p.I502I|TLE3_uc002asp.2_Silent_p.I506I|TLE3_uc002aso.2_Silent_p.I509I NM_005078 NP_005069 Q04726 TLE3_HUMAN transducin-like enhancer protein 3 isoform a 514 WD 1. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|protein binding lung(2) 2 CTGGCTGGCTGATGTCCCAGA 0.632 NaN 1 0 0.00116845 1 0.00119403 6 17 NEO1 4756 broad.mit.edu 37 15 73409170 73409170 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:73409170C>T uc002avm.3 + 2 562 c.420C>T c.(418-420)ATC>ATT p.I140I NEO1_uc010ukx.1_Silent_p.I140I|NEO1_uc010uky.1_Silent_p.I140I|NEO1_uc010ukz.1_5'UTR NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 140 Extracellular (Potential).|Ig-like C2-type 1. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 GAACTATTATCAGTAGAACAG 0.333 NaN 0 0 0 1 0 19 73 UBL7 84993 broad.mit.edu 37 15 74749005 74749005 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:74749005G>T uc002axw.1 - 3 354 c.192C>A c.(190-192)ATC>ATA p.I64I UBL7_uc002axx.1_Silent_p.I104I|UBL7_uc010bjr.1_Intron|UBL7_uc002axy.1_Silent_p.I64I|UBL7_uc002axz.1_Silent_p.I64I NM_032907 NP_116296 Q96S82 UBL7_HUMAN ubiquitin-like 7 64 Ubiquitin-like. protein binding ovary(1) 1 GACCACAGTAGATCAGATCTA 0.418 NaN 1 0 0.000151284 1 0.000156888 12 87 UBL7 84993 broad.mit.edu 37 15 74751198 74751198 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:74751198G>A uc002axw.1 - 2 173 c.11C>T c.(10-12)TCA>TTA p.S4L UBL7_uc002axx.1_Missense_Mutation_p.S44L|UBL7_uc010bjr.1_Intron|UBL7_uc002axy.1_Missense_Mutation_p.S4L|UBL7_uc002axz.1_Missense_Mutation_p.S4L|uc002aya.2_5'Flank|uc002ayb.2_5'Flank NM_032907 NP_116296 Q96S82 UBL7_HUMAN ubiquitin-like 7 4 protein binding ovary(1) 1 GTGCCAGTCTGAGAGAGACAT 0.527 NaN 0 0 0 1 0 23 106 SCAPER 49855 broad.mit.edu 37 15 77057793 77057793 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:77057793G>A uc002bby.2 - 12 1557 c.1498C>T c.(1498-1500)CGT>TGT p.R500C SCAPER_uc002bbx.2_Missense_Mutation_p.R254C|SCAPER_uc002bbz.1_Missense_Mutation_p.R371C|SCAPER_uc002bca.1_Missense_Mutation_p.R365C|SCAPER_uc002bcb.1_Missense_Mutation_p.R506C|SCAPER_uc002bcc.1_Missense_Mutation_p.R500C NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 499 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 CAAGACTCACGAGCTGTTCAG 0.393 NaN 0 0 0 1 0 16 34 SH2D7 646892 broad.mit.edu 37 15 78386496 78386496 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:78386496C>T uc010blb.1 + 2 219 c.219C>T c.(217-219)TTC>TTT p.F73F NM_001101404 NP_001094874 A6NKC9 SH2D7_HUMAN SH2 domain containing 7 73 SH2. 0 TTGGTTCCTTCCTTATCCGCC 0.567 NaN 0 0 0 1 0 3 10 FAH 2184 broad.mit.edu 37 15 80465456 80465456 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:80465456C>T uc002bfj.2 + 10 889 c.807C>T c.(805-807)CTC>CTT p.L269L FAH_uc002bfk.1_Silent_p.L269L|FAH_uc002bfm.1_Silent_p.L269L|FAH_uc002bfn.1_Silent_p.L199L NM_000137 NP_000128 P16930 FAAA_HUMAN fumarylacetoacetase 269 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding 0 TGGATGCTCTCATGCCCTTTG 0.577 NaN Tyrosinemia_type_1 OREG0023354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 37 87 ALPK3 57538 broad.mit.edu 37 15 85400425 85400425 + Missense_Mutation SNP G G A rs116079740 by1000genomes TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:85400425G>A uc002ble.2 + 6 3229 c.3062G>A c.(3061-3063)CGA>CAA p.R1021Q NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1021 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) GAGAGATGCCGAGGGCCACAG 0.647 NaN 0 0 0 1 0 5 46 ACAN 176 broad.mit.edu 37 15 89382250 89382250 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:89382250G>A uc010upo.1 + 3 801 c.427G>A c.(427-429)GAG>AAG p.E143K ACAN_uc002bmx.2_Missense_Mutation_p.E143K|ACAN_uc010upp.1_Missense_Mutation_p.E143K|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 143 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CGAGGACAGCGAGGCCACCCT 0.622 NaN 0 0 0 1 0 22 95 POLG 5428 broad.mit.edu 37 15 89867416 89867416 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:89867416C>A uc002bns.3 - 11 2274 c.1992G>T c.(1990-1992)GGG>GGT p.G664G POLG_uc002bnr.3_Silent_p.G664G NM_002693 NP_002684 P54098 DPOG1_HUMAN DNA-directed DNA polymerase gamma 664 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) GCTGCTGCTTCCCCTGTTCGA 0.502 NaN DNA_polymerases_(catalytic_subunits) 1 0 0.000157383 1 0.00016281 8 52 C15orf42 90381 broad.mit.edu 37 15 90127692 90127692 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:90127692C>G uc002boe.2 + 3 1110 c.1110C>G c.(1108-1110)AGC>AGG p.S370R NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 370 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CAGAGGAGAGCACAGCAACTC 0.502 NaN 0 0 0 1 0 17 63 UNC45A 55898 broad.mit.edu 37 15 91483662 91483662 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:91483662C>T uc002bqg.2 + 6 986 c.646C>T c.(646-648)CTG>TTG p.L216L UNC45A_uc002bqd.2_Silent_p.L201L|UNC45A_uc010uqo.1_Silent_p.L208L|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Silent_p.L216L NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN smooth muscle cell associated protein-1 isoform 216 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding ovary(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GCTGGCGGCTCTGCGTACGCT 0.532 NaN 0 0 0 1 0 16 59 RGMA 56963 broad.mit.edu 37 15 93595352 93595352 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:93595352C>T uc002bss.1 - 3 788 c.516G>A c.(514-516)AGG>AGA p.R172R RGMA_uc002bsq.1_Silent_p.R156R|RGMA_uc010boi.1_Silent_p.R63R|RGMA_uc002bsr.1_Silent_p.R63R|RGMA_uc010urc.1_Silent_p.R180R NM_020211 NP_064596 Q96B86 RGMA_HUMAN RGM domain family, member A precursor 172 axon guidance anchored to membrane|endoplasmic reticulum|plasma membrane 0 Lung NSC(78;0.0542)|all_lung(78;0.0786) BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108) CGGTGAAAGTCCTGAGGTGTG 0.602 NaN 0 0 0 1 0 6 19 SYNM 23336 broad.mit.edu 37 15 99672778 99672778 + Nonsense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr15:99672778C>T uc002bup.2 + 6 4333 c.4213C>T c.(4213-4215)CGA>TGA p.R1405* SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN desmuslin isoform A 1405 Tail.|Interaction with DMD and UTRN.|Interaction with TLN1 and VCL. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding ovary(3)|central_nervous_system(1) 4 TAGGCACATTCGACTAGGTCC 0.517 NaN 0 0 0 1 0 49 172 RHBDF1 64285 broad.mit.edu 37 16 109026 109026 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:109026C>T uc002cfl.3 - 20 2242 c.2094G>A c.(2092-2094)CTG>CTA p.L698L NM_022450 NP_071895 Q96CC6 RHDF1_HUMAN rhomboid family 1 698 Helical; (Potential). cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity ovary(1)|pancreas(1) 2 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) TGACACCACTCAGCAGGTAGA 0.617 NaN 0 0 0 1 0 7 77 RHBDF1 64285 broad.mit.edu 37 16 113674 113674 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:113674C>T uc002cfl.3 - 7 521 c.373G>A c.(373-375)GAC>AAC p.D125N RHBDF1_uc010uty.1_Missense_Mutation_p.D148N|RHBDF1_uc010utz.1_Missense_Mutation_p.D125N|RHBDF1_uc010bqo.1_RNA NM_022450 NP_071895 Q96CC6 RHDF1_HUMAN rhomboid family 1 125 Cytoplasmic (Potential). cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity ovary(1)|pancreas(1) 2 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) CTGGGCAGGTCCAGCTCCCGG 0.647 NaN 0 0 0 1 0 15 45 WDR24 84219 broad.mit.edu 37 16 735939 735939 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:735939G>C uc002ciz.1 - 5 2263 c.1503C>G c.(1501-1503)GAC>GAG p.D501E JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank NM_032259 NP_115635 Q96S15 WDR24_HUMAN WD repeat domain 24 631 ovary(1)|central_nervous_system(1) 2 Hepatocellular(780;0.0218) CTTTGCTGCGGTCCAGCCGCG 0.642 NaN 0 0 0 1 0 16 118 TELO2 9894 broad.mit.edu 37 16 1544331 1544331 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:1544331C>G uc002cly.2 + 2 340 c.49C>G c.(49-51)CAT>GAT p.H17D TELO2_uc010uvg.1_Missense_Mutation_p.H17D NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN TEL2, telomere maintenance 2, homolog 17 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding 0 Hepatocellular(780;0.219) GGAAGCCATTCATGCCCTCTC 0.622 NaN OREG0023547 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 61 120 RPS2 6187 broad.mit.edu 37 16 2012818 2012818 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:2012818G>A uc002cnn.2 - 4 656 c.468C>T c.(466-468)ATC>ATT p.I156I RPS2_uc010bsa.1_RNA|RPS2_uc002cnl.2_Intron|RPS2_uc002cnm.2_Intron|RPS2_uc002cno.2_Silent_p.I156I|SNORA10_uc002cnp.1_5'Flank|SNHG9_uc002cnr.2_5'Flank|SNORA78_uc002cns.1_5'Flank NM_002952 NP_002943 P15880 RS2_HUMAN ribosomal protein S2 156 S5 DRBM. endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleoplasm fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome 0 GCTTGGCCAGGATGATGGCCC 0.607 NaN 0 0 0 1 0 8 38 NTHL1 4913 broad.mit.edu 37 16 2090035 2090035 + Nonsense_Mutation SNP C C A rs71716587 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:2090035C>A uc002col.1 - 6 848 c.829G>T c.(829-831)GAG>TAG p.E277* NTHL1_uc002com.1_Nonsense_Mutation_p.E278* NM_002528 NP_002519 P78549 NTHL1_HUMAN nth endonuclease III-like 1 277 depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion nucleoplasm 4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding lung(1) 1 CCATTGATCTCGTGCCACAGC 0.662 NaN BER_DNA_glycosylases 1 0 1.16021e-09 1 1.28009e-09 28 71 CASKIN1 57524 broad.mit.edu 37 16 2237188 2237188 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:2237188C>A uc010bsg.1 - 8 846 c.814G>T c.(814-816)GAG>TAG p.E272* NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 272 signal transduction cytoplasm skin(2) 2 TGCTTGATCTCCCTGCTGGCC 0.667 NaN 1 0 1.5842e-08 1 1.72077e-08 14 53 DNASE1L2 1775 broad.mit.edu 37 16 2286829 2286829 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:2286829C>T uc002cpo.2 + 1 406 c.12C>T c.(10-12)CCC>CCT p.P4P DNASE1L2_uc002cpn.2_Silent_p.P4P|DNASE1L2_uc002cpp.2_Silent_p.P4P|DNASE1L2_uc002cpq.2_Silent_p.P4P NM_001374 NP_001365 Q92874 DNSL2_HUMAN deoxyribonuclease I-like 2 precursor 4 DNA catabolic process extracellular region calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding 0 TGGGCGGGCCCCGGGCTCTGC 0.706 NaN 0 0 0 1 0 4 9 SRRM2 23524 broad.mit.edu 37 16 2808485 2808485 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:2808485C>G uc002crk.2 + 5 1079 c.530C>G c.(529-531)TCT>TGT p.S177C SRRM2_uc002crj.1_Missense_Mutation_p.S81C|SRRM2_uc002crl.1_Missense_Mutation_p.S177C|SRRM2_uc010bsu.1_Missense_Mutation_p.S81C NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 177 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GTTCGGGAGTCTAGCAGTTCT 0.363 NaN 0 0 0 1 0 22 188 DNAJA3 9093 broad.mit.edu 37 16 4500496 4500496 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:4500496C>G uc002cwk.2 + 10 1362 c.1337C>G c.(1336-1338)TCT>TGT p.S446C DNAJA3_uc002cwl.2_Missense_Mutation_p.S446C|DNAJA3_uc010uxk.1_Missense_Mutation_p.S293C NM_005147 NP_005138 Q96EY1 DNJA3_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 3 446 activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein folding|protein stabilization|response to heat|response to interferon-gamma cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding ovary(2)|breast(2) 4 CTCACCAGCTCTGGTAAGGAG 0.607 NaN 0 0 0 1 0 5 8 PPL 5493 broad.mit.edu 37 16 4933533 4933533 + Nonsense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:4933533G>C uc002cyd.1 - 22 5213 c.5123C>G c.(5122-5124)TCA>TGA p.S1708* NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1708 Plectin 2. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 GTGTATCACTGAGGACTCCCC 0.557 NaN 0 0 0 1 0 20 57 FAM18A 780776 broad.mit.edu 37 16 10911962 10911962 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:10911962G>A uc010buo.1 - 2 358 c.87C>T c.(85-87)ATC>ATT p.I29I FAM18A_uc010uyr.1_RNA|FAM18A_uc010uys.1_RNA|FAM18A_uc010uyt.1_RNA|FAM18A_uc010bun.2_RNA|FAM18A_uc010uyu.1_RNA|FAM18A_uc002dad.3_Intron|FAM18A_uc002daf.1_RNA NM_001079512 NP_001072980 A6NH52 FA18A_HUMAN hypothetical protein LOC780776 29 integral to membrane 0 CAACACACCTGATCTTGGCTT 0.428 NaN 0 0 0 1 0 3 10 CLEC16A 23274 broad.mit.edu 37 16 11145494 11145494 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:11145494G>A uc002dao.2 + 18 2221 c.1991G>A c.(1990-1992)CGG>CAG p.R664Q CLEC16A_uc002dan.3_Missense_Mutation_p.R646Q NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 664 ovary(1)|central_nervous_system(1) 2 GAGAAGACCCGGCGGGTGAGT 0.602 NaN 0 0 0 1 0 17 83 NOMO1 23420 broad.mit.edu 37 16 14958467 14958467 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:14958467G>C uc002dcv.2 + 13 1487 c.1421G>C c.(1420-1422)AGA>ACA p.R474T NM_014287 NP_055102 Q15155 NOMO1_HUMAN nodal modulator 1 precursor 474 Extracellular (Potential). integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding ovary(1) 1 GCAGAAACCAGAGCAGGGCTG 0.532 NaN 0 0 0 1 0 74 212 ABCC1 4363 broad.mit.edu 37 16 16103752 16103752 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:16103752C>G uc010bvi.2 + 3 520 c.345C>G c.(343-345)ATC>ATG p.I115M ABCC1_uc010bvj.2_Missense_Mutation_p.I115M|ABCC1_uc010bvk.2_Missense_Mutation_p.I115M|ABCC1_uc010bvl.2_Missense_Mutation_p.I115M|ABCC1_uc010bvm.2_Missense_Mutation_p.I115M|ABCC1_uc002del.3_Translation_Start_Site NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 115 Helical; Name=3. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TCTTGGGCATCACCATGGTAA 0.507 NaN 0 0 0 1 0 19 75 DNAH3 55567 broad.mit.edu 37 16 20976008 20976008 + Missense_Mutation SNP G G C rs61746919 byFrequency TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:20976008G>C uc010vbe.1 - 53 9198 c.9198C>G c.(9196-9198)ATC>ATG p.I3066M DNAH3_uc010vbd.1_Missense_Mutation_p.I501M NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3066 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TGCCATTGTCGATGGAGAAGG 0.502 NaN 0 0 0 1 0 16 70 DNAH3 55567 broad.mit.edu 37 16 20996973 20996973 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:20996973C>T uc010vbe.1 - 48 7091 c.7091G>A c.(7090-7092)GGA>GAA p.G2364E DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2364 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GAAATAATCTCCAAAGAAGAG 0.433 NaN 0 0 0 1 0 42 112 DNAH3 55567 broad.mit.edu 37 16 21115865 21115865 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:21115865C>A uc010vbe.1 - 16 2293 c.2293G>T c.(2293-2295)GAA>TAA p.E765* DNAH3_uc002die.2_Nonsense_Mutation_p.E719* NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 765 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AAGATATCTTCAATCTGGTCT 0.478 NaN 1 0 6.68952e-21 1 7.69753e-21 48 117 EEF2K 29904 broad.mit.edu 37 16 22291646 22291646 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:22291646G>A uc002dki.2 + 17 2502 c.2017G>A c.(2017-2019)GAG>AAG p.E673K EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 673 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) CAGGGAGGCCGAGATGCTGTT 0.637 NaN 0 0 0 1 0 9 44 USP31 57478 broad.mit.edu 37 16 23119406 23119406 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:23119406G>C uc002dll.2 - 2 732 c.732C>G c.(730-732)CTC>CTG p.L244L NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 244 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) CTGAATGGTTGAGGTCTTCAT 0.512 NaN 0 0 0 1 0 20 46 UBFD1 56061 broad.mit.edu 37 16 23581875 23581875 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:23581875C>G uc002dlv.2 + 7 1096 c.894C>G c.(892-894)ATC>ATG p.I298M NM_019116 NP_061989 O14562 UBFD1_HUMAN ubiquitin-binding protein homolog 298 0 GBM - Glioblastoma multiforme(48;0.0331) TGGATGCAATCAAAGACACTG 0.512 NaN 0 0 0 1 0 20 120 RBBP6 5930 broad.mit.edu 37 16 24566966 24566966 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:24566966G>A uc002dmh.2 + 5 1419 c.379G>A c.(379-381)GAA>AAA p.E127K RBBP6_uc010vcb.1_5'UTR|RBBP6_uc002dmi.2_Missense_Mutation_p.E127K|RBBP6_uc010bxr.2_Missense_Mutation_p.E127K|RBBP6_uc002dmk.2_5'UTR NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 127 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) CAATGCTTCTGAAGAAGATAA 0.363 NaN 0 0 0 1 0 21 120 ZKSCAN2 342357 broad.mit.edu 37 16 25251684 25251684 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:25251684C>T uc002dod.3 - 7 2764 c.2357G>A c.(2356-2358)AGA>AAA p.R786K ZKSCAN2_uc010vcl.1_Missense_Mutation_p.R582K NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 786 C2H2-type 1. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|breast(1) 4 GBM - Glioblastoma multiforme(48;0.0378) GCTCCTGCTTCTACCAAAGCA 0.453 NaN 0 0 0 1 0 15 68 IL21R 50615 broad.mit.edu 37 16 27456503 27456503 + Missense_Mutation SNP A A G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:27456503A>G uc002doq.1 + 7 924 c.691A>G c.(691-693)AAG>GAG p.K231E IL21R_uc002dor.1_Missense_Mutation_p.K231E|IL21R_uc002dos.1_Missense_Mutation_p.K231E NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 231 Extracellular (Potential). natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 CCCAGAGTTAAAGGAAGGCTG 0.532 NaN T BCL6 NHL 0 0 0 1 0 11 31 SBK1 388228 broad.mit.edu 37 16 28331409 28331409 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:28331409G>T uc002dpd.2 + 4 1231 c.442G>T c.(442-444)GAG>TAG p.E148* NM_001024401 NP_001019572 Q52WX2 SBK1_HUMAN SH3-binding kinase 1 148 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|kidney(1) 2 GGGGCTCCCTGAGGACACGGT 0.711 NaN 1 0 0.184627 1 0.184921 4 12 MVP 9961 broad.mit.edu 37 16 29852916 29852916 + Splice_Site SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:29852916G>A uc002dui.2 + 9 1276 c.1192_splice c.e9-1 p.V398_splice uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_Splice_Site|MVP_uc002duj.2_Splice_Site_p.V398_splice|MVP_uc010vea.1_Splice_Site NM_005115 NP_005106 Q14764 MVP_HUMAN major vault protein mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 CTCGTCCCAAGGTGCGCGCTG 0.637 NaN 0 0 0 1 0 9 28 ALDOA 226 broad.mit.edu 37 16 30078815 30078815 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:30078815G>A uc002dvw.2 + 6 1285 c.157G>A c.(157-159)GAG>AAG p.E53K uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.2_Missense_Mutation_p.E53K|ALDOA_uc002dvy.2_Missense_Mutation_p.E53K|ALDOA_uc002dvz.2_Missense_Mutation_p.E53K|ALDOA_uc002dwa.3_Missense_Mutation_p.E53K|ALDOA_uc002dwb.1_Missense_Mutation_p.E53K|ALDOA_uc002dwc.2_Missense_Mutation_p.E53K|ALDOA_uc010veg.1_Missense_Mutation_p.E107K|ALDOA_uc002dwd.2_Missense_Mutation_p.E53K NM_184043 NP_908932 P04075 ALDOA_HUMAN fructose-bisphosphate aldolase A 53 actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding lung(1) 1 CGAGAACACCGAGGAGAACCG 0.607 NaN 0 0 0 1 0 9 48 ZNF688 146542 broad.mit.edu 37 16 30581606 30581606 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:30581606G>C uc002dyt.2 - 3 1240 c.462C>G c.(460-462)CCC>CCG p.P154P ZNF688_uc002dys.2_Silent_p.P140P|uc002dyu.2_5'Flank NM_145271 NP_660314 P0C7X2 ZN688_HUMAN zinc finger protein 688 isoform a 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAGCATTTTTGGGTGGCTGTG 0.647 NaN 0 0 0 1 0 9 29 ZNF688 146542 broad.mit.edu 37 16 30581750 30581750 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:30581750G>T uc002dyt.2 - 3 1096 c.318C>A c.(316-318)GTC>GTA p.V106V ZNF688_uc002dys.2_Silent_p.V92V|uc002dyu.2_5'Flank NM_145271 NP_660314 P0C7X2 ZN688_HUMAN zinc finger protein 688 isoform a 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCCTGTTTGGGACATCTCCTG 0.488 NaN 1 0 6.53275e-17 1 7.46262e-17 13 57 SRCAP 10847 broad.mit.edu 37 16 30732788 30732788 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:30732788C>T uc002dze.1 + 21 3917 c.3532C>T c.(3532-3534)CGC>TGC p.R1178C SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.R1035C|SRCAP_uc010bzz.1_Missense_Mutation_p.R748C NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 1178 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) TATGCAGGCTCGCCTGCCCTG 0.552 NaN 0 0 0 1 0 8 51 ZNF629 23361 broad.mit.edu 37 16 30795476 30795476 + Nonsense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:30795476G>C uc002dzs.1 - 3 381 c.173C>G c.(172-174)TCA>TGA p.S58* NM_001080417 NP_001073886 Q9UEG4 ZN629_HUMAN zinc finger protein 629 58 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) CATCTCTGTTGAGTCCTTGGA 0.597 NaN 0 0 0 1 0 4 15 FBXL19 54620 broad.mit.edu 37 16 30953717 30953717 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:30953717C>G uc002eab.2 + 9 1705 c.1547C>G c.(1546-1548)TCT>TGT p.S516C FBXL19_uc002dzz.1_Missense_Mutation_p.S204C|FBXL19_uc002eaa.1_Missense_Mutation_p.S415C NM_001099784 NP_001093254 Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 516 LRR 1. DNA binding|zinc ion binding p.E516K(1) ovary(2)|lung(1)|breast(1) 4 CTGGTGCTCTCTGGCTGCTCC 0.662 NaN OREG0023741 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 3 16 TRIM72 493829 broad.mit.edu 37 16 31235662 31235662 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:31235662C>G uc002ebn.1 + 7 1249 c.1020C>G c.(1018-1020)CTC>CTG p.L340L uc002ebp.1_5'Flank NM_001008274 NP_001008275 Q6ZMU5 TRI72_HUMAN tripartite motif-containing 72 340 B30.2/SPRY. exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding 0 ACCAGCAGCTCTCCGAGGGCG 0.622 NaN 0 0 0 1 0 5 11 LONP2 83752 broad.mit.edu 37 16 48286111 48286111 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:48286111G>A uc002efi.1 + 2 392 c.303G>A c.(301-303)TTG>TTA p.L101L LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Silent_p.L101L NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 101 Lon. misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 ACACTCTGTTGATTACAGGCC 0.488 NaN 0 0 0 1 0 7 54 CHD9 80205 broad.mit.edu 37 16 53288467 53288467 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:53288467G>A uc002ehb.2 + 17 4143 c.3979G>A c.(3979-3981)GAT>AAT p.D1327N CHD9_uc002egy.2_Missense_Mutation_p.D1327N|CHD9_uc002ehc.2_Missense_Mutation_p.D1327N|CHD9_uc002ehf.2_Missense_Mutation_p.D441N|CHD9_uc002ehd.2_Missense_Mutation_p.D853N NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1327 Helicase C-terminal. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) ACTGGGCCTAGATAAAGCTGT 0.388 NaN 0 0 0 1 0 34 258 GPR114 221188 broad.mit.edu 37 16 57608778 57608778 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:57608778C>T uc002elx.3 + 11 1345 c.1260C>T c.(1258-1260)GGC>GGT p.G420G GPR114_uc010vhr.1_Missense_Mutation_p.A381V|GPR114_uc002ely.2_Silent_p.G420G NM_153837 NP_722579 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 precursor 420 Helical; Name=5; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1) 1 TGGGCTACGGCGGCCTCACGT 0.701 NaN 0 0 0 1 0 8 57 KATNB1 10300 broad.mit.edu 37 16 57787356 57787356 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:57787356G>A uc002eml.1 + 12 1476 c.1102G>A c.(1102-1104)GAC>AAC p.D368N NM_005886 NP_005877 Q9BVA0 KTNB1_HUMAN katanin p80 subunit B 1 368 Interaction with PAFAH1B1 (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity 0 all_neural(199;0.223) GGATGACCGGGACGAGCGCGA 0.667 NaN 0 0 0 1 0 21 42 CNOT1 23019 broad.mit.edu 37 16 58592477 58592477 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:58592477G>C uc002env.2 - 18 2525 c.2232C>G c.(2230-2232)TTC>TTG p.F744L CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.F744L|CNOT1_uc002enx.2_Missense_Mutation_p.F744L|CNOT1_uc002enz.1_Missense_Mutation_p.F173L NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 744 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) GAGGGGTACTGAATGCAGAAC 0.493 NaN 0 0 0 1 0 10 54 CNOT1 23019 broad.mit.edu 37 16 58608559 58608559 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:58608559G>T uc002env.2 - 16 2226 c.1933C>A c.(1933-1935)CCA>ACA p.P645T CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.P645T|CNOT1_uc002enx.2_Missense_Mutation_p.P645T|CNOT1_uc002enz.1_Missense_Mutation_p.P74T NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 645 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) AAAGTTTCTGGAGGAAGTTGA 0.408 NaN 1 0 2.32078e-09 1 2.5472e-09 15 115 CNOT1 23019 broad.mit.edu 37 16 58608568 58608568 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:58608568G>C uc002env.2 - 16 2217 c.1924C>G c.(1924-1926)CAA>GAA p.Q642E CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.Q642E|CNOT1_uc002enx.2_Missense_Mutation_p.Q642E|CNOT1_uc002enz.1_Missense_Mutation_p.Q71E NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 642 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) GGAGGAAGTTGAGCACTTTTG 0.433 NaN 0 0 0 1 0 14 108 TRADD 8717 broad.mit.edu 37 16 67190499 67190499 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:67190499G>A uc002eri.1 - 2 145 c.65C>T c.(64-66)TCG>TTG p.S22L TRADD_uc002erh.1_5'Flank|TRADD_uc010vjb.1_Missense_Mutation_p.S22L NM_003789 NP_003780 Q15628 TRADD_HUMAN TNFRSF1A-associated via death domain 22 activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway cytoskeleton|cytosol|receptor complex binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity lung(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) CTTGTCCAGCGAGGACTCCAC 0.617 NaN OREG0023872 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 22 136 HSF4 3299 broad.mit.edu 37 16 67201421 67201421 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:67201421G>A uc002erl.1 + 10 1738 c.773G>A c.(772-774)AGG>AAG p.R258K HSF4_uc002erm.1_Missense_Mutation_p.G263R|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_Intron NM_001040667 NP_001035757 Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 isoform b 258 Interactions with DUSP26, MAPK1 and MAPK2. response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) CACAGGGCCAGGGGCCCCATC 0.607 NaN 0 0 0 1 0 38 98 FHOD1 29109 broad.mit.edu 37 16 67265987 67265987 + Silent SNP A A C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:67265987A>C uc002esl.2 - 14 2269 c.2157T>G c.(2155-2157)GCT>GCG p.A719A FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Silent_p.A526A NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 719 Interaction with ROCK1.|FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) AGTTGAGCAGAGCAGCCTTAA 0.567 NaN 0 0 0 1 0 4 49 KCTD19 146212 broad.mit.edu 37 16 67327463 67327463 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:67327463C>T uc002esu.2 - 12 2253 c.2202G>A c.(2200-2202)CAG>CAA p.Q734Q KCTD19_uc002est.2_Silent_p.Q506Q|KCTD19_uc010vjj.1_Silent_p.Q477Q NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 734 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CCTTGGTCCTCTGCTTGCTCC 0.423 NaN 0 0 0 1 0 36 113 CTCF 10664 broad.mit.edu 37 16 67671650 67671650 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:67671650G>T uc002etl.2 + 12 2349 c.2059G>T c.(2059-2061)GAA>TAA p.E687* CTCF_uc010cek.2_Nonsense_Mutation_p.E359*|CTCF_uc002etm.1_Nonsense_Mutation_p.E174* NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 687 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) CATTATAGTTGAAGTAAAAAA 0.498 NaN 1 0 1.26484e-09 1 1.39432e-09 8 66 HAS3 3038 broad.mit.edu 37 16 69143703 69143703 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:69143703C>T uc010cfh.2 + 2 629 c.405C>T c.(403-405)ATC>ATT p.I135I HAS3_uc002ewk.2_Silent_p.I135I|HAS3_uc010vlk.1_Silent_p.I135I|HAS3_uc002ewl.2_Silent_p.I135I NM_005329 NP_005320 O00219 HAS3_HUMAN hyaluronan synthase 3 isoform a 135 Cytoplasmic (Potential). carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity 0 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) TGCTGGACATCTTCCACGAGG 0.652 NaN 0 0 0 1 0 22 48 HAS3 3038 broad.mit.edu 37 16 69143910 69143910 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:69143910C>G uc010cfh.2 + 2 836 c.612C>G c.(610-612)CTC>CTG p.L204L HAS3_uc002ewk.2_Silent_p.L204L|HAS3_uc010vlk.1_Silent_p.L204L|HAS3_uc002ewl.2_Silent_p.L204L NM_005329 NP_005320 O00219 HAS3_HUMAN hyaluronan synthase 3 isoform a 204 Cytoplasmic (Potential). carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity 0 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) TCAAGGCCCTCGGCGATTCGG 0.602 NaN 0 0 0 1 0 16 27 VPS4A 27183 broad.mit.edu 37 16 69354143 69354143 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:69354143G>C uc002eww.2 + 7 848 c.720G>C c.(718-720)GAG>GAC p.E240D NM_013245 NP_037377 Q9UN37 VPS4A_HUMAN vacuolar protein sorting factor 4A 240 cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding 0 Ovarian(137;0.101) ATGAAAATGAGAGTGAGGCCG 0.582 NaN 0 0 0 1 0 9 33 DDX19B 11269 broad.mit.edu 37 16 70363869 70363869 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:70363869C>T uc002eyo.2 + 9 1050 c.921C>T c.(919-921)ATC>ATT p.I307I DDX19B_uc010vly.1_Silent_p.I307I|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Silent_p.I281I|DDX19B_uc010vlw.1_Silent_p.I198I|DDX19B_uc002eyp.2_Silent_p.I276I|DDX19B_uc002eyq.2_Silent_p.I198I|DDX19B_uc002eyr.2_Silent_p.I156I|DDX19B_uc010vlx.1_Silent_p.I156I|uc002eyt.2_Intron NM_007242 NP_009173 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform 307 Helicase C-terminal. mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding kidney(1) 1 Ovarian(137;0.0694) TGGACACCATCAAGCAGTACT 0.527 NaN 0 0 0 1 0 29 162 HYDIN 54768 broad.mit.edu 37 16 70843817 70843817 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:70843817C>T uc002ezr.2 - 85 14877 c.14749G>A c.(14749-14751)GAG>AAG p.E4917K HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 4918 ovary(1)|skin(1) 2 Ovarian(137;0.0654) AGATAGAGCTCATATTGGTAG 0.468 NaN 0 0 0 1 0 131 352 HYDIN 54768 broad.mit.edu 37 16 70843871 70843871 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:70843871C>T uc002ezr.2 - 85 14823 c.14695G>A c.(14695-14697)GAA>AAA p.E4899K HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 4900 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CCGAAGGTTTCTCCAGCTTTC 0.473 NaN 0 0 0 1 0 118 287 PHLPP2 23035 broad.mit.edu 37 16 71748679 71748679 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:71748679C>A uc002fax.2 - 1 26 c.20G>T c.(19-21)AGA>ATA p.R7I PHLPP2_uc010cgf.2_Missense_Mutation_p.R7I|PHLPP2_uc002fay.1_Missense_Mutation_p.R7I NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein 7 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1)|central_nervous_system(1) 2 CAAACAATTTCTGCTCCCATT 0.393 NaN 1 0 2.39556e-15 1 2.72666e-15 21 40 PMFBP1 83449 broad.mit.edu 37 16 72174473 72174473 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:72174473C>T uc002fcc.3 - 6 817 c.645G>A c.(643-645)GAG>GAA p.E215E PMFBP1_uc002fcd.2_Silent_p.E215E|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.E70E NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 215 ovary(2) 2 Ovarian(137;0.179) CACCCTTGTTCTCAGGCTCCT 0.388 NaN 0 0 0 1 0 28 141 KCNG4 93107 broad.mit.edu 37 16 84270993 84270993 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:84270993C>T uc010voc.1 - 2 220 c.99G>A c.(97-99)ACG>ACA p.T33T KCNG4_uc002fhu.1_Silent_p.T33T NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 33 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 TGATGGACGGCGTCTCCATGG 0.627 NaN 0 0 0 1 0 11 54 KIAA0182 23199 broad.mit.edu 37 16 85691040 85691040 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:85691040C>A uc002fix.2 + 8 1544 c.1470C>A c.(1468-1470)CGC>CGA p.R490R KIAA0182_uc002fiw.2_Silent_p.R386R|KIAA0182_uc002fiy.2_Silent_p.R417R NM_014615 NP_055430 Q14687 GSE1_HUMAN genetic suppressor element 1 isoform 1 490 protein binding large_intestine(3)|ovary(1)|skin(1) 5 TGATCCAGCGCACCAATGAGG 0.662 NaN 1 0 0.184627 1 0.184921 5 35 ANKRD11 29123 broad.mit.edu 37 16 89346347 89346347 + Silent SNP T T C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:89346347T>C uc002fmx.1 - 9 7064 c.6603A>G c.(6601-6603)GCA>GCG p.A2201A ANKRD11_uc002fmy.1_Silent_p.A2201A|ANKRD11_uc002fnc.1_Silent_p.A2201A|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.A2158A NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2201 Pro-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GCTCGAGCTCTGCAGGGAGCC 0.687 NaN 0 0 0 1 0 4 19 ZNF276 92822 broad.mit.edu 37 16 89789204 89789204 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:89789204C>T uc002fos.3 + 2 568 c.471C>T c.(469-471)GTC>GTT p.V157V C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Silent_p.V82V|ZNF276_uc002foq.3_Silent_p.V82V|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank NM_001113525 NP_001106997 Q8N554 ZN276_HUMAN zinc finger protein 276 isoform a 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) TGCAGAGGGTCAACGCCTCCC 0.597 NaN 0 0 0 1 0 16 92 SPIRE2 84501 broad.mit.edu 37 16 89922055 89922055 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:89922055C>T uc002foz.1 + 6 991 c.939C>T c.(937-939)CTC>CTT p.L313L SPIRE2_uc010civ.1_Silent_p.L228L|SPIRE2_uc010ciw.1_Silent_p.L313L|SPIRE2_uc002fpa.1_Silent_p.L265L|SPIRE2_uc010cix.1_Silent_p.L180L NM_032451 NP_115827 Q8WWL2 SPIR2_HUMAN spire homolog 2 313 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1) 1 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) CTCACGAGCTCATCCTGGACT 0.667 NaN 0 0 0 1 0 17 39 TUBB3 10381 broad.mit.edu 37 16 90001759 90001759 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:90001759G>A uc002fph.1 + 4 965 c.900G>A c.(898-900)ATG>ATA p.M300I TUBB3_uc002fpf.2_Missense_Mutation_p.M647I|TUBB3_uc010ciz.1_Missense_Mutation_p.M228I|TUBB3_uc002fpg.1_Missense_Mutation_p.M154I|TUBB3_uc002fpi.1_Missense_Mutation_p.M228I|TUBB3_uc002fpj.1_Missense_Mutation_p.M228I|TUBB3_uc010cjb.1_Missense_Mutation_p.M154I|TUBB3_uc002fpk.1_Missense_Mutation_p.M154I NM_006086 NP_006077 Q13509 TBB3_HUMAN tubulin, beta, 4 300 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(2)|pancreas(1) 3 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) AGAACATGATGGCCGCCTGCG 0.692 NaN 0 0 0 1 0 38 119 PRDM7 11105 broad.mit.edu 37 16 90142264 90142264 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr16:90142264C>T uc010cje.2 - 1 75 c.55G>A c.(55-57)GAG>AAG p.E19K PRDM7_uc010cjf.2_5'UTR|PRDM7_uc010cjh.1_RNA NM_001098173 NP_001091643 Q9NQW5 PRDM7_HUMAN PR domain containing 7 isoform 1 19 chromosome|nucleus nucleic acid binding ovary(1) 1 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) GGCTTCCGCTCTGTTCTCTCT 0.592 NaN 0 0 0 1 0 8 27 TUSC5 286753 broad.mit.edu 37 17 1183494 1183494 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:1183494G>C uc002fsi.1 + 1 538 c.199G>C c.(199-201)GAG>CAG p.E67Q NM_172367 NP_758955 Q8IXB3 TUSC5_HUMAN LOST1 67 response to biotic stimulus integral to membrane skin(2) 2 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGCCATCTCCGAGGGGCACCT 0.632 NaN 0 0 0 1 0 16 43 MYO1C 4641 broad.mit.edu 37 17 1374391 1374391 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:1374391G>A uc002fsp.2 - 21 2406 c.2186C>T c.(2185-2187)GCC>GTC p.A729V MYO1C_uc002fsn.2_Missense_Mutation_p.A710V|MYO1C_uc002fso.2_Missense_Mutation_p.A694V|MYO1C_uc010vqj.1_Missense_Mutation_p.A694V|MYO1C_uc010vqk.1_Missense_Mutation_p.A705V NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 729 mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GACCTCCAGGGCATCCTCTGT 0.632 NaN 0 0 0 1 0 12 32 ALOX15 246 broad.mit.edu 37 17 4535233 4535233 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:4535233G>C uc002fyh.2 - 13 1774 c.1760C>G c.(1759-1761)TCT>TGT p.S587C ALOX15_uc010vsd.1_Missense_Mutation_p.S548C|ALOX15_uc010vse.1_Missense_Mutation_p.S609C NM_001140 NP_001131 P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 587 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity skin(3)|ovary(1)|lung(1) 5 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) CATCTGGAGAGAAGCCTGGTG 0.622 NaN 0 0 0 1 0 8 50 NUP88 4927 broad.mit.edu 37 17 5289552 5289552 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:5289552C>T uc002gbo.1 - 17 2226 c.2200G>A c.(2200-2202)GAT>AAT p.D734N NUP88_uc002gbn.2_5'Flank|NUP88_uc010vsx.1_Missense_Mutation_p.D750N NM_002532 NP_002523 Q99567 NUP88_HUMAN nucleoporin 88kDa 734 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity kidney(1) 1 TTGCGGATATCATTGATTTGC 0.363 NaN 0 0 0 1 0 18 110 DHX33 56919 broad.mit.edu 37 17 5347829 5347829 + Nonsense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:5347829G>C uc002gca.2 - 12 1822 c.1820C>G c.(1819-1821)TCA>TGA p.S607* DHX33_uc002gbz.2_Nonsense_Mutation_p.S378*|DHX33_uc002gcb.2_Nonsense_Mutation_p.S434*|DHX33_uc010clf.2_Nonsense_Mutation_p.S383* NM_020162 NP_064547 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 607 nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|pancreas(1) 2 GATTGGCATTGACATCTGTTT 0.597 NaN 0 0 0 1 0 7 27 ZBTB4 57659 broad.mit.edu 37 17 7365511 7365511 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:7365511G>T uc002ghc.3 - 4 3040 c.2790C>A c.(2788-2790)CTC>CTA p.L930L ZBTB4_uc002ghd.3_Silent_p.L930L NM_001128833 NP_001122305 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 930 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) AGGCGGCAAGGAGCTGGGGGC 0.627 NaN 1 0 3.73148e-12 1 4.19043e-12 30 128 TNFSF12 8742 broad.mit.edu 37 17 7460637 7460637 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:7460637C>A uc002ghg.2 + 7 816 c.720C>A c.(718-720)CTC>CTA p.L240L TNFSF12_uc002ghh.2_RNA|TNFSF12-TNFSF13_uc002ghi.1_Intron|TNFSF13_uc002ghj.2_5'Flank|TNFSF13_uc002ghk.2_5'Flank|TNFSF13_uc002ghl.2_5'Flank|TNFSF13_uc010cmk.2_5'Flank|TNFSF13_uc010vua.1_5'Flank NM_003809 NP_003800 O43508 TNF12_HUMAN tumor necrosis factor (ligand) superfamily, 240 Extracellular (Potential). angiogenesis|apoptosis|cell differentiation|endothelial cell migration|immune response|induction of apoptosis|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|signal transduction extracellular space|integral to plasma membrane|perinuclear region of cytoplasm cytokine activity|tumor necrosis factor receptor binding 0 Prostate(122;0.157) CCCCCTTCCTCACCTACTTCG 0.692 NaN 1 0 3.09899e-07 1 3.31189e-07 9 30 TP53 7157 broad.mit.edu 37 17 7577127 7577127 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:7577127C>T uc002gim.2 - 8 1005 c.811G>A c.(811-813)GAG>AAG p.E271K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 271 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(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) ACACGCACCTCAAAGCTGTTC 0.537 111 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) 0 0 0 1 0 17 17 ZNF624 57547 broad.mit.edu 37 17 16552976 16552976 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:16552976C>G uc010cpi.1 - 2 166 c.83G>C c.(82-84)CGC>CCC p.R28P NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) ACTTACCAGGCGTCCAACTGA 0.468 NaN 0 0 0 1 0 4 28 ATPAF2 91647 broad.mit.edu 37 17 17942265 17942265 + Silent SNP A A C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:17942265A>C uc002gse.1 - 1 216 c.63T>G c.(61-63)GGT>GGG p.G21G C17orf39_uc002gsg.1_5'Flank|ATPAF2_uc002gsd.1_RNA|ATPAF2_uc002gsf.1_RNA|ATPAF2_uc010vxf.1_Silent_p.G21G NM_145691 NP_663729 Q8N5M1 ATPF2_HUMAN ATP synthase mitochondrial F1 complex assembly 21 proton-transporting ATP synthase complex assembly mitochondrion|nuclear speck protein binding 0 all_neural(463;0.228) CGCTGGGGCCACCCGCCGGCC 0.672 NaN 0 0 0 1 0 5 4 MYO15A 51168 broad.mit.edu 37 17 18025324 18025324 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:18025324G>C uc010vxh.1 + 2 3548 c.3210G>C c.(3208-3210)CAG>CAC p.Q1070H NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1070 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) CGTGTGACCAGACCAGGGCCA 0.647 NaN 0 0 0 1 0 22 75 FBXW10 10517 broad.mit.edu 37 17 18668067 18668067 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:18668067G>T uc002guk.2 + 8 1678 c.1446G>T c.(1444-1446)CTG>CTT p.L482L FBXW10_uc002guj.2_Silent_p.L482L|FBXW10_uc002gul.2_Silent_p.L511L|FBXW10_uc010cqh.1_Silent_p.L482L NM_031456 NP_113644 Q5XX13 FBW10_HUMAN F-box and WD-40 domain protein 10 482 WD 3. ovary(1) 1 ACTGGGATCTGAAAAGTGGGG 0.483 NaN 1 0 2.23348e-06 1 2.36288e-06 15 40 CYTSB 92521 broad.mit.edu 37 17 20130924 20130924 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:20130924G>C uc002gwq.2 + 5 2207 c.2062G>C c.(2062-2064)GAG>CAG p.E688Q CYTSB_uc010cqx.2_Missense_Mutation_p.E688Q|CYTSB_uc002gwr.2_Missense_Mutation_p.E688Q|CYTSB_uc002gws.2_Missense_Mutation_p.E688Q|CYTSB_uc002gwv.2_Missense_Mutation_p.E607Q|CYTSB_uc010vzf.1_Missense_Mutation_p.E28Q|CYTSB_uc002gww.2_Missense_Mutation_p.E464Q|CYTSB_uc002gwt.2_Missense_Mutation_p.E607Q|CYTSB_uc002gwu.2_Missense_Mutation_p.E607Q NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 688 Potential. nucleus 0 ACTCATCAGTGAGCTAGAAAG 0.254 NaN 0 0 0 1 0 11 41 SLC13A2 9058 broad.mit.edu 37 17 26818799 26818799 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:26818799C>T uc002hbh.2 + 6 874 c.807C>T c.(805-807)TTC>TTT p.F269F SLC13A2_uc010wal.1_Silent_p.F226F|SLC13A2_uc010wam.1_Silent_p.F225F|SLC13A2_uc010wan.1_Silent_p.F318F|SLC13A2_uc010wao.1_Silent_p.F226F|SLC13A2_uc002hbi.2_Silent_p.F198F NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 269 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) GGTTCAGCTTCGCCTTCCCCA 0.582 NaN 0 0 0 1 0 9 77 PIGS 94005 broad.mit.edu 37 17 26890912 26890912 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:26890912G>C uc002hbo.2 - 4 673 c.300C>G c.(298-300)ATC>ATG p.I100M PIGS_uc002hbn.2_Missense_Mutation_p.I92M|PIGS_uc010wap.1_Missense_Mutation_p.I39M NM_033198 NP_149975 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, 100 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(2)|urinary_tract(1)|kidney(1) 4 Lung NSC(42;0.00431) AACGGCATTTGATTTTCATTT 0.522 NaN 0 0 0 1 0 17 110 KIAA0100 9703 broad.mit.edu 37 17 26951382 26951382 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:26951382C>T uc002hbu.2 - 25 4720 c.4621G>A c.(4621-4623)GAA>AAA p.E1541K KIAA0100_uc002hbt.2_5'Flank NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 1541 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) TCTGTCTCTTCAATTAGCTTC 0.463 NaN 0 0 0 1 0 14 59 TLCD1 116238 broad.mit.edu 37 17 27051561 27051561 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:27051561C>A uc002hco.2 - 4 826 c.711G>T c.(709-711)AAG>AAT p.K237N TLCD1_uc010waw.1_Missense_Mutation_p.K190N NM_138463 NP_612472 Q96CP7 TLCD1_HUMAN TLC domain containing 1 isoform 1 237 integral to membrane 0 Lung NSC(42;0.00431) TGTGTTGCTTCTTGGGGACAT 0.522 NaN 1 0 3.90053e-15 1 4.43562e-15 30 202 TLCD1 116238 broad.mit.edu 37 17 27052547 27052547 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:27052547C>G uc002hco.2 - 2 344 c.229G>C c.(229-231)GAG>CAG p.E77Q TLCD1_uc010waw.1_Missense_Mutation_p.E30Q NM_138463 NP_612472 Q96CP7 TLCD1_HUMAN TLC domain containing 1 isoform 1 77 TLC.|Helical; (Potential). integral to membrane 0 Lung NSC(42;0.00431) CACGCCGTCTCAATCTCCACT 0.542 NaN 0 0 0 1 0 24 110 PIPOX 51268 broad.mit.edu 37 17 27382234 27382234 + Missense_Mutation SNP T T C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:27382234T>C uc002hdr.1 + 6 1287 c.961T>C c.(961-963)TAC>CAC p.Y321H NM_016518 NP_057602 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 321 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity 0 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) GAGCTGCATGTACACGGTAAG 0.567 NaN 0 0 0 1 0 30 133 CORO6 84940 broad.mit.edu 37 17 27943318 27943318 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:27943318G>A uc002hel.2 - 8 1043 c.1041C>T c.(1039-1041)ATC>ATT p.I347I CORO6_uc002hem.2_Silent_p.I113I|CORO6_uc002hen.2_Silent_p.I113I NM_032854 NP_116243 Q6QEF8 CORO6_HUMAN coronin 6 347 actin cytoskeleton organization actin cytoskeleton actin filament binding 0 CAGTCATGATGATAGGTTCAC 0.572 NaN 0 0 0 1 0 3 17 CCL13 6357 broad.mit.edu 37 17 32685093 32685093 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:32685093G>C uc002hic.2 + 3 315 c.240G>C c.(238-240)AAG>AAC p.K80N NM_005408 NP_005399 Q99616 CCL13_HUMAN small inducible cytokine A13 precursor 80 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response extracellular space chemokine activity|signal transducer activity 0 Ovarian(249;0.0443)|Breast(31;0.151) CAAAGGAGAAGTGGGTCCAGA 0.493 NaN 0 0 0 1 0 19 33 TMEM132E 124842 broad.mit.edu 37 17 32964869 32964869 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:32964869G>T uc002hif.2 + 10 2901 c.2573G>T c.(2572-2574)GGA>GTA p.G858V NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 858 Cytoplasmic (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) CGGGTGCAAGGAGAGCTGTCG 0.697 NaN 1 0 9.04072e-19 1 1.03463e-18 37 30 UNC45B 146862 broad.mit.edu 37 17 33501356 33501356 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:33501356C>G uc002hja.2 + 14 2029 c.1932C>G c.(1930-1932)ATC>ATG p.I644M UNC45B_uc002hjb.2_Missense_Mutation_p.I642M|UNC45B_uc002hjc.2_Missense_Mutation_p.I642M|UNC45B_uc010cto.2_Missense_Mutation_p.I563M NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 644 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) ATAGTGCCATCCTCACTGACC 0.597 NaN 0 0 0 1 0 12 82 AP2B1 163 broad.mit.edu 37 17 33953812 33953812 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:33953812G>A uc002hjr.2 + 7 1078 c.889G>A c.(889-891)GAA>AAA p.E297K AP2B1_uc002hjq.2_Missense_Mutation_p.E297K|AP2B1_uc010wci.1_Missense_Mutation_p.E259K|AP2B1_uc002hjs.2_Missense_Mutation_p.E240K|AP2B1_uc002hjt.2_Missense_Mutation_p.E297K|AP2B1_uc010ctv.2_Missense_Mutation_p.E297K|AP2B1_uc010wcj.1_Missense_Mutation_p.E34K NM_001282 NP_001273 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 297 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TGGGGAGCCAGAAGTGCAGTA 0.408 NaN 0 0 0 1 0 38 226 CCL16 6360 broad.mit.edu 37 17 34308454 34308454 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:34308454C>T uc002hkl.2 - 1 70 c.3G>A c.(1-3)ATG>ATA p.M1I CCL16_uc002hkm.2_RNA NM_004590 NP_004581 O15467 CCL16_HUMAN small inducible cytokine A16 precursor 1 cell-cell signaling|immune response|inflammatory response extracellular space chemoattractant activity|chemokine activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CGGAGACCTTCATCCTCTCAG 0.547 NaN 0 0 0 1 0 3 13 GGNBP2 79893 broad.mit.edu 37 17 34923593 34923593 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:34923593G>C uc002hnb.2 + 6 868 c.619G>C c.(619-621)GAA>CAA p.E207Q GGNBP2_uc002hna.2_Missense_Mutation_p.E207Q NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 207 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) AGAAACACTAGAAACATATCT 0.418 NaN 0 0 0 1 0 16 61 LHX1 3975 broad.mit.edu 37 17 35298106 35298106 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:35298106C>T uc002hnh.1 + 3 1593 c.597C>T c.(595-597)TTC>TTT p.F199F LHX1_uc010cux.1_Silent_p.F107F NM_005568 NP_005559 P48742 LHX1_HUMAN LIM homeobox protein 1 199 Homeobox. cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(25;0.00607) AGGCCGCCTTCGCTGCTACAC 0.677 NaN 0 0 0 1 0 7 17 ACACA 31 broad.mit.edu 37 17 35634815 35634815 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:35634815C>T uc002hnm.2 - 6 774 c.583G>A c.(583-585)GAT>AAT p.D195N ACACA_uc002hnk.2_Missense_Mutation_p.D117N|ACACA_uc002hnl.2_Missense_Mutation_p.D137N|ACACA_uc002hnn.2_Missense_Mutation_p.D195N|ACACA_uc002hno.2_Missense_Mutation_p.D232N|ACACA_uc010cuz.2_Missense_Mutation_p.D195N|ACACA_uc002hnq.2_Missense_Mutation_p.D117N NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 195 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TTAGCAATATCAAGAATTAAT 0.383 NaN 0 0 0 1 0 7 48 TADA2A 6871 broad.mit.edu 37 17 35804846 35804846 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:35804846G>A uc002hnt.2 + 8 737 c.580G>A c.(580-582)GAA>AAA p.E194K TADA2A_uc002hnu.1_Missense_Mutation_p.E194K|TADA2A_uc002hnv.2_Missense_Mutation_p.E194K|TADA2A_uc010wdd.1_Missense_Mutation_p.E194K|TADA2A_uc002hnw.2_Missense_Mutation_p.E93K|TADA2A_uc010cvb.2_5'UTR NM_001488 NP_001479 O75478 TAD2A_HUMAN transcriptional adaptor 2A isoform a 194 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(3)|skin(1) 4 TGATTTTGTTGAAGATGACTC 0.269 NaN 0 0 0 1 0 38 218 GPR179 440435 broad.mit.edu 37 17 36483085 36483085 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:36483085G>A uc002hpz.2 - 11 6388 c.6367C>T c.(6367-6369)CCC>TCC p.P2123S NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 2123 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TTGGCAGAGGGAGCCTCTACC 0.572 NaN 0 0 0 1 0 21 108 CACNB1 782 broad.mit.edu 37 17 37347815 37347815 + Nonsense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:37347815G>C uc002hrm.1 - 3 356 c.203C>G c.(202-204)TCA>TGA p.S68* CACNB1_uc002hrl.1_Translation_Start_Site|CACNB1_uc002hrn.2_Nonsense_Mutation_p.S68*|CACNB1_uc002hro.2_Nonsense_Mutation_p.S68*|CACNB1_uc002hrp.1_Nonsense_Mutation_p.S68*|CACNB1_uc010web.1_Nonsense_Mutation_p.S21* NM_000723 NP_000714 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 68 axon guidance voltage-gated calcium channel complex large_intestine(1)|ovary(1) 2 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) ATCAGAGTCTGATGGACGGCT 0.587 NaN 0 0 0 1 0 23 38 TTC25 83538 broad.mit.edu 37 17 40117264 40117264 + Silent SNP A A G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:40117264A>G uc002hyj.3 + 11 1871 c.1782A>G c.(1780-1782)GGA>GGG p.G594G TTC25_uc010cxt.2_RNA|CNP_uc002hyk.1_5'Flank|CNP_uc002hyl.1_5'Flank|CNP_uc010wfz.1_5'Flank|CNP_uc002hym.1_5'Flank|CNP_uc010wga.1_5'Flank NM_031421 NP_113609 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 594 cytoplasm protein binding ovary(1) 1 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) CAAGATCAGGAGAAACAGGCA 0.498 NaN 0 0 0 1 0 7 24 TUBG2 27175 broad.mit.edu 37 17 40818472 40818472 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:40818472C>G uc010wgr.1 + 10 1384 c.1128C>G c.(1126-1128)CTC>CTG p.L376L TUBG2_uc002iaq.2_Silent_p.L218L|TUBG2_uc002iar.2_Silent_p.L223L|TUBG2_uc002ias.2_Silent_p.L218L|TUBG2_uc002iap.2_Silent_p.L223L NM_016437 NP_057521 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 376 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity ovary(1) 1 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) TCAGCGGGCTCATGATGGCCA 0.587 NaN 0 0 0 1 0 14 121 NBR1 4077 broad.mit.edu 37 17 41341649 41341649 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:41341649G>A uc010czd.2 + 8 665 c.525G>A c.(523-525)CAG>CAA p.Q175Q NBR1_uc010diz.2_Silent_p.Q175Q|NBR1_uc010whu.1_Silent_p.Q175Q|NBR1_uc010whv.1_Silent_p.Q175Q|NBR1_uc010whw.1_Silent_p.Q154Q|NBR1_uc010whx.1_5'Flank NM_031862 NP_114068 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 175 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding skin(1) 1 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) AGCTTGAACAGAAATTACATG 0.393 NaN 0 0 0 1 0 19 116 C17orf53 78995 broad.mit.edu 37 17 42239247 42239247 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:42239247G>C uc002ifi.1 + 10 2076 c.1891G>C c.(1891-1893)GAT>CAT p.D631H C17orf53_uc010czq.1_Missense_Mutation_p.D630H|C17orf53_uc002ifj.1_Missense_Mutation_p.W518C|C17orf53_uc002ifk.1_RNA NM_024032 NP_076937 Q8N3J3 CQ053_HUMAN hypothetical protein LOC78995 631 0 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) AGATGACCTGGATGGACTCCT 0.547 NaN 0 0 0 1 0 18 98 GFAP 2670 broad.mit.edu 37 17 42992744 42992744 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:42992744G>C uc002ihq.2 - 1 171 c.111C>G c.(109-111)CTC>CTG p.L37L GFAP_uc002ihr.2_Silent_p.L37L|GFAP_uc010wjg.1_RNA NM_002055 NP_002046 P14136 GFAP_HUMAN glial fibrillary acidic protein isoform 1 37 Head. cytoplasm|intermediate filament structural constituent of cytoskeleton ovary(1)|pancreas(1) 2 Prostate(33;0.0959) GAGCCAGGGAGAGGCGGGTGC 0.692 NaN 0 0 0 1 0 11 21 MAP3K14 9020 broad.mit.edu 37 17 43345029 43345029 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:43345029C>T uc002iiw.1 - 13 2179 c.2070G>A c.(2068-2070)CCG>CCA p.P690P LOC100133991_uc010dah.2_Intron|LOC100133991_uc002iit.3_Intron|LOC100133991_uc010dai.2_Intron|MAP3K14_uc002iiu.1_Silent_p.P220P|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Silent_p.P274P NM_003954 NP_003945 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 690 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1) 8 AAAGCTCTCTCGGCTGGGCAT 0.607 NaN 0 0 0 1 0 13 140 MAP3K14 9020 broad.mit.edu 37 17 43348526 43348526 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:43348526C>T uc002iiw.1 - 11 1829 c.1720G>A c.(1720-1722)GAC>AAC p.D574N MAP3K14_uc002iiu.1_Missense_Mutation_p.D104N|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Missense_Mutation_p.D158N NM_003954 NP_003945 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 574 Interaction with ZFP91.|Protein kinase. cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1) 8 ACCTTGGCGTCGCAGCTCCTG 0.597 NaN OREG0024479 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 6 37 PRR15L 79170 broad.mit.edu 37 17 46030598 46030598 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:46030598C>T uc002imp.2 - 2 120 c.3G>A c.(1-3)ATG>ATA p.M1I NM_024320 NP_077296 Q9BU68 PR15L_HUMAN ATPase family, AAA domain containing 4 1 ovary(1) 1 TTTCAGTCGTCATGGCGCTCC 0.547 NaN 0 0 0 1 0 61 79 ATP5G1 516 broad.mit.edu 37 17 46973041 46973041 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:46973041C>G uc002iog.2 + 5 455 c.321C>G c.(319-321)CTC>CTG p.L107L ATP5G1_uc002ioh.2_Silent_p.L107L NM_005175 NP_005166 P05496 AT5G1_HUMAN ATP synthase, H+ transporting, mitochondrial F0 107 ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding 0 AGCAGCAGCTCTTCTCCTATG 0.577 NaN 0 0 0 1 0 111 131 NGFR 4804 broad.mit.edu 37 17 47583714 47583714 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:47583714G>C uc002ioz.3 + 3 387 c.262G>C c.(262-264)GAG>CAG p.E88Q NM_002507 NP_002498 P08138 TNR16_HUMAN nerve growth factor receptor precursor 88 Extracellular (Potential).|TNFR-Cys 2. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm ovary(1)|lung(1) 2 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) GCCGTGCACCGAGTGCGTGGG 0.672 NaN 0 0 0 1 0 7 46 ACSF2 80221 broad.mit.edu 37 17 48540834 48540834 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:48540834C>G uc002iqu.2 + 8 1071 c.967C>G c.(967-969)CTG>GTG p.L323V ACSF2_uc010wml.1_Missense_Mutation_p.L280V|ACSF2_uc010wmm.1_Missense_Mutation_p.L348V|ACSF2_uc010wmn.1_Missense_Mutation_p.L310V|ACSF2_uc010wmo.1_Missense_Mutation_p.L163V NM_025149 NP_079425 Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 precursor 323 fatty acid metabolic process mitochondrion ATP binding|ligase activity 0 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) AATGATGTGTCTGATGTACGG 0.587 NaN 0 0 0 1 0 30 40 MYCBPAP 84073 broad.mit.edu 37 17 48601143 48601143 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:48601143G>A uc010wmr.1 + 12 1924 c.1762G>A c.(1762-1764)GAG>AAG p.E588K MYCBPAP_uc002iqz.2_RNA NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Myc-binding protein-associated protein 551 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding urinary_tract(2)|skin(2)|ovary(1)|pancreas(1) 6 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) GAAAGTACTGGAGGTAAGGGA 0.527 NaN 0 0 0 1 0 8 36 EPN3 55040 broad.mit.edu 37 17 48619216 48619216 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:48619216C>T uc002ira.3 + 10 2032 c.1597C>T c.(1597-1599)CCG>TCG p.P533S SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Missense_Mutation_p.P561S|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.P506S NM_017957 NP_060427 Q9H201 EPN3_HUMAN epsin 3 533 3 X 3 AA repeats of N-P-F. clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding ovary(1) 1 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) TCTCAGCGCTCCGTCCCCCAC 0.692 NaN 0 0 0 1 0 8 34 ABCC3 8714 broad.mit.edu 37 17 48750880 48750880 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:48750880C>T uc002isl.2 + 19 2540 c.2460C>T c.(2458-2460)TTC>TTT p.F820F NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 820 ABC transporter 1.|Cytoplasmic (By similarity). bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) AGACAGACTTCATCATTGTGC 0.607 NaN 0 0 0 1 0 8 79 MBTD1 54799 broad.mit.edu 37 17 49281254 49281254 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:49281254C>G uc002itr.3 - 8 981 c.637G>C c.(637-639)GAA>CAA p.E213Q MBTD1_uc002itp.3_Missense_Mutation_p.E49Q|MBTD1_uc002itq.3_Missense_Mutation_p.E213Q NM_017643 NP_060113 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 213 MBT 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) GAGTCATTTTCAAATCCTTCA 0.368 NaN 0 0 0 1 0 106 140 STXBP4 252983 broad.mit.edu 37 17 53218719 53218719 + Missense_Mutation SNP A A G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:53218719A>G uc002iuf.1 + 17 1745 c.1538A>G c.(1537-1539)TAC>TGC p.Y513C STXBP4_uc010dcd.1_Missense_Mutation_p.Y491C NM_178509 NP_848604 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 513 WW. cytoplasm calcium ion binding ovary(1) 1 GGAATCAAGTACTTCATCAAG 0.358 NaN 0 0 0 1 0 12 70 EPX 8288 broad.mit.edu 37 17 56270423 56270423 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:56270423C>T uc002ivq.2 + 2 187 c.101C>T c.(100-102)TCG>TTG p.S34L NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 34 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 GTGGAGACCTCGGTCCTGCGA 0.597 NaN 0 0 0 1 0 66 148 SKA2 348235 broad.mit.edu 37 17 57189697 57189697 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:57189697G>T uc002ixd.2 - 4 583 c.307C>A c.(307-309)CTG>ATG p.L103M uc002ixb.2_Intron|SKA2_uc002ixc.2_RNA|SKA2_uc010dde.1_Missense_Mutation_p.H75Q|SKA2_uc002ixe.2_RNA NM_182620 NP_872426 Q8WVK7 SKA2_HUMAN spindle and KT associated 2 isoform 1 103 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding 0 TCTTTAGTCAGTGGTGACAGC 0.323 NaN 1 0 1.42536e-11 1 1.59215e-11 27 48 USP32 84669 broad.mit.edu 37 17 58288742 58288742 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:58288742G>C uc002iyo.1 - 20 2599 c.2313C>G c.(2311-2313)CTC>CTG p.L771L USP32_uc002iyn.1_Silent_p.L441L NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 771 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ATTACCTGTTGAGTTCATAAA 0.408 NaN 0 0 0 1 0 20 313 TBX2 6909 broad.mit.edu 37 17 59479190 59479190 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:59479190G>A uc010wox.1 + 2 822 c.541G>A c.(541-543)GAG>AAG p.E181K TBX2_uc002ize.2_Missense_Mutation_p.E171K|TBX2_uc002izg.2_Missense_Mutation_p.E27K NM_005994 NP_005985 Q13207 TBX2_HUMAN T-box 2 181 T-box. cell aging|positive regulation of cell proliferation sequence-specific DNA binding 0 GGCCGACCCTGAGATGCCCAA 0.577 NaN 0 0 0 1 0 9 130 BRIP1 83990 broad.mit.edu 37 17 59878667 59878667 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:59878667C>T uc002izk.1 - 8 1228 c.1087G>A c.(1087-1089)GAC>AAC p.D363N NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 363 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 AATATGATGTCAGCATCTTGT 0.408 NaN F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 1 0 41 360 STRADA 92335 broad.mit.edu 37 17 61787958 61787958 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:61787958G>A uc002jbm.2 - 8 633 c.474C>T c.(472-474)CTC>CTT p.L158L STRADA_uc002jbn.2_Silent_p.L100L|STRADA_uc002jbo.2_Silent_p.L121L|STRADA_uc002jbp.2_Silent_p.L121L|STRADA_uc002jbq.2_Silent_p.L100L|STRADA_uc010wpq.1_Silent_p.L114L|STRADA_uc010wpr.1_Silent_p.L129L|STRADA_uc010ddw.2_Silent_p.L129L|STRADA_uc002jbr.2_Silent_p.L100L NM_001003787 NP_001003787 Q7RTN6 STRAA_HUMAN STE20-related kinase adaptor alpha isoform 1 158 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|kinase binding|protein kinase activity ovary(1) 1 GTGTACAGATGAGATCTTTTG 0.493 NaN 0 0 0 1 0 29 128 DDX42 11325 broad.mit.edu 37 17 61869914 61869914 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:61869914G>C uc002jbu.2 + 4 621 c.364G>C c.(364-366)GAA>CAA p.E122Q DDX42_uc002jbv.2_Missense_Mutation_p.E122Q|DDX42_uc002jbw.1_5'UTR NM_007372 NP_031398 Q86XP3 DDX42_HUMAN DEAD box polypeptide 42 protein 122 Potential. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2)|large_intestine(1) 5 ATTCATGGCTGAAGTGGAGGC 0.373 NaN 0 0 0 1 0 30 262 ARSG 22901 broad.mit.edu 37 17 66352862 66352862 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:66352862C>A uc002jhc.2 + 6 1417 c.621C>A c.(619-621)CTC>CTA p.L207L ARSG_uc002jhb.1_Silent_p.L43L NM_014960 NP_055775 Q96EG1 ARSG_HUMAN Arylsulfatase G precursor 207 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) ATGAAAACCTCAACATTGTGG 0.502 NaN 1 0 2.2171e-23 1 2.55585e-23 33 46 ABCA9 10350 broad.mit.edu 37 17 67024685 67024685 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:67024685G>C uc002jhu.2 - 12 1749 c.1606C>G c.(1606-1608)CCA>GCA p.P536A ABCA9_uc010dez.2_Missense_Mutation_p.P536A NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 536 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) CCTGATGTTGGAACTGACAAC 0.363 NaN 0 0 0 1 0 26 82 KCNJ2 3759 broad.mit.edu 37 17 68171223 68171223 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:68171223G>T uc010dfg.2 + 2 444 c.43G>T c.(43-45)GAA>TAA p.E15* KCNJ2_uc002jir.2_Nonsense_Mutation_p.E15* NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 15 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) CGTCTCTTCAGAAGAAGACGG 0.517 NaN 1 0 1.52009e-12 1 1.71316e-12 16 64 RAB37 326624 broad.mit.edu 37 17 72739323 72739323 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:72739323G>A uc002jlk.2 + 4 358 c.302G>A c.(301-303)AGA>AAA p.R101K RAB37_uc002jlc.2_Missense_Mutation_p.R94K|RAB37_uc010dfu.2_Missense_Mutation_p.R94K|RAB37_uc002jld.2_Missense_Mutation_p.R94K|RAB37_uc010wrb.1_Missense_Mutation_p.R69K|RAB37_uc010wrc.1_Missense_Mutation_p.R106K|RAB37_uc010wrd.1_Missense_Mutation_p.R69K|RAB37_uc010wre.1_Missense_Mutation_p.R64K|RAB37_uc002jll.3_RNA NM_001006638 NP_001006639 Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family isoform 2 101 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding ovary(1) 1 GCTTATTACAGAGATGCTCAG 0.602 NaN 0 0 0 1 0 71 116 SUMO2 6613 broad.mit.edu 37 17 73164440 73164440 + Silent SNP G G C rs55895120 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:73164440G>C uc002jne.2 - 4 451 c.282C>G c.(280-282)GTC>GTG p.V94V SUMO2_uc002jnf.2_Silent_p.V70V NM_006937 NP_008868 P61956 SUMO2_HUMAN SMT3 suppressor of mif two 3 homolog 2 isoform a 94 Ubiquitin-like. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation nucleus ubiquitin protein ligase binding 0 all_lung(278;0.14)|Lung NSC(278;0.168) CTTTTCAGTAGACACCTCCCG 0.378 NaN 0 0 0 1 0 7 27 NUP85 79902 broad.mit.edu 37 17 73204648 73204648 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:73204648G>C uc002jng.1 + 2 320 c.60G>C c.(58-60)AAG>AAC p.K20N NUP85_uc010dgd.1_Missense_Mutation_p.K20N|NUP85_uc010wrv.1_Intron NM_024844 NP_079120 Q9BW27 NUP85_HUMAN nucleoporin 85 20 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding ovary(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) ATTCCAAGAAGAACCAAATGT 0.338 NaN 0 0 0 1 0 32 271 SLC25A19 60386 broad.mit.edu 37 17 73282415 73282415 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:73282415C>A uc002jns.3 - 2 1168 c.258G>T c.(256-258)CAG>CAT p.Q86H SLC25A19_uc010dge.2_Missense_Mutation_p.Q86H|SLC25A19_uc002jnv.3_Missense_Mutation_p.Q86H|SLC25A19_uc002jnu.3_Missense_Mutation_p.Q86H|SLC25A19_uc002jnw.3_Missense_Mutation_p.Q86H|SLC25A19_uc002jnt.3_Missense_Mutation_p.Q86H NM_021734 NP_068380 Q9HC21 TPC_HUMAN solute carrier family 25, member 19 86 Solcar 1. integral to membrane|mitochondrial inner membrane binding|deoxynucleotide transmembrane transporter activity ovary(1) 1 all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08) all cancers(21;6.82e-07)|Epithelial(20;6.86e-06) TGGAGAGAATCTGAGCTGGGA 0.592 NaN 1 0 1.96895e-08 1 2.13684e-08 24 153 CCDC40 55036 broad.mit.edu 37 17 78059852 78059852 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:78059852G>A uc010dht.2 + 14 2313 c.2286G>A c.(2284-2286)CTG>CTA p.L762L CCDC40_uc002jxm.3_Silent_p.L545L|CCDC40_uc002jxn.3_Silent_p.L158L NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 762 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGAGCAAGCTGATCGACGAGC 0.522 NaN 0 0 0 1 0 18 83 SLC38A10 124565 broad.mit.edu 37 17 79220394 79220394 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:79220394C>T uc002jzz.1 - 16 2697 c.2322G>A c.(2320-2322)GAG>GAA p.E774E SLC38A10_uc002jzy.1_Silent_p.E692E NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 774 amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GAGGCAGATTCTCCACCGTCT 0.652 NaN 0 0 0 1 0 14 70 FASN 2194 broad.mit.edu 37 17 80040026 80040026 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:80040026C>T uc002kdu.2 - 36 6139 c.6022G>A c.(6022-6024)GAG>AAG p.E2008K FASN_uc002kdv.1_RNA NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 2008 Beta-ketoacyl reductase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GGGCACGCCTCTCGGGTCACC 0.627 NaN 0 0 0 1 0 9 42 UTS2R 2837 broad.mit.edu 37 17 80332454 80332454 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:80332454C>A uc010wvl.1 + 1 254 c.254C>A c.(253-255)TCC>TAC p.S85Y NM_018949 NP_061822 Q9UKP6 UR2R_HUMAN urotensin 2 receptor 85 Cytoplasmic (Potential). integral to membrane|plasma membrane breast(1) 1 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) GCGGTGGCCTCCATGTACGTC 0.652 NaN 1 0 0.150653 1 0.151374 4 11 HEXDC 284004 broad.mit.edu 37 17 80377757 80377757 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:80377757G>A uc002kew.2 + 1 133 c.82G>A c.(82-84)GAG>AAG p.E28K C17orf101_uc002ket.1_5'Flank|C17orf101_uc002keu.1_5'Flank|C17orf101_uc010dip.1_5'Flank|HEXDC_uc002kev.3_Missense_Mutation_p.E28K|HEXDC_uc010diq.2_Missense_Mutation_p.E28K Q8WVB3 HEXDC_HUMAN SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D; 28 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding ovary(1)|skin(1) 2 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GTACCTCTCAGAGGTAAGGAC 0.418 NaN 0 0 0 1 0 16 27 HEXDC 284004 broad.mit.edu 37 17 80391557 80391557 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr17:80391557C>T uc002kew.2 + 4 357 c.306C>T c.(304-306)TTC>TTT p.F102F HEXDC_uc002kev.3_Silent_p.F102F|HEXDC_uc010diq.2_Silent_p.F102F|HEXDC_uc010wvm.1_RNA Q8WVB3 HEXDC_HUMAN SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D; 102 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding ovary(1)|skin(1) 2 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) ACACGGCCTTCGCCCACCTGC 0.652 NaN 0 0 0 1 0 17 56 LAMA1 284217 broad.mit.edu 37 18 7010382 7010382 + Silent SNP G G C rs139372717 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr18:7010382G>C uc002knm.2 - 26 3784 c.3690C>G c.(3688-3690)CTC>CTG p.L1230L LAMA1_uc010wzj.1_Silent_p.L706L NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1230 Laminin IV type A 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CATAGGCCATGAGCTATCAAA 0.408 NaN 0 0 0 1 0 29 80 LAMA1 284217 broad.mit.edu 37 18 7080413 7080413 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr18:7080413G>A uc002knm.2 - 2 199 c.105C>T c.(103-105)ATC>ATT p.I35I LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 35 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CATTGGTGCTGATGTGAGCAT 0.517 NaN 0 0 0 1 0 23 67 CEP192 55125 broad.mit.edu 37 18 13092445 13092445 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr18:13092445C>T uc010xac.1 + 34 6253 c.6173C>T c.(6172-6174)TCA>TTA p.S2058L CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.S1583L|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.S480L|CEP192_uc002krw.2_Missense_Mutation_p.S207L|CEP192_uc002krx.2_Missense_Mutation_p.S62L|CEP192_uc002kry.2_RNA NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 2058 ovary(4)|pancreas(1) 5 ATTATACTTTCAGTAATTGGA 0.333 NaN 0 0 0 1 0 16 85 DCC 1630 broad.mit.edu 37 18 50832018 50832018 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr18:50832018G>A uc002lfe.1 + 13 2569 c.1982G>A c.(1981-1983)CGA>CAA p.R661Q DCC_uc010xdr.1_Missense_Mutation_p.R509Q|DCC_uc010dpf.1_Missense_Mutation_p.R316Q NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 661 Extracellular (Potential).|Fibronectin type-III 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.R661*(1) skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TATAAAATTCGACACAGAAAG 0.423 NaN 0 0 0 1 0 20 55 ATP8B1 5205 broad.mit.edu 37 18 55342102 55342102 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr18:55342102C>G uc002lgw.2 - 15 1783 c.1783G>C c.(1783-1785)GAC>CAC p.D595H uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 595 Cytoplasmic (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) CTGTTGAAGTCCAAAATGGCA 0.473 NaN Byler_disease 0 0 0 1 0 30 44 SERPINB13 5275 broad.mit.edu 37 18 61264380 61264380 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr18:61264380C>T uc002ljc.2 + 8 1127 c.959C>T c.(958-960)TCG>TTG p.S320L SERPINB13_uc002ljd.2_Missense_Mutation_p.S184L|SERPINB13_uc010xep.1_Missense_Mutation_p.S329L|SERPINB13_uc010xeq.1_Missense_Mutation_p.S141L|SERPINB13_uc010xer.1_Missense_Mutation_p.S141L NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN serine (or cysteine) proteinase inhibitor, clade 320 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 TCGGGAATGTCGTCAGGCTCC 0.592 NaN 0 0 0 1 0 16 93 CDH19 28513 broad.mit.edu 37 18 64235752 64235752 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr18:64235752C>G uc002lkc.1 - 3 529 c.391G>C c.(391-393)GAG>CAG p.E131Q CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.E131Q|CDH19_uc002lkd.2_Missense_Mutation_p.E131Q NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 131 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) AACTCAGACTCAGGTTCCACA 0.438 NaN 0 0 0 1 0 26 104 NETO1 81832 broad.mit.edu 37 18 70417770 70417770 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr18:70417770G>C uc002lkw.2 - 9 1352 c.1068C>G c.(1066-1068)CTC>CTG p.L356L NETO1_uc002lkx.1_Silent_p.L355L|NETO1_uc002lky.1_Silent_p.L356L NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 356 Helical; (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) AGATGATAATGAGGATGATCA 0.463 NaN 0 0 0 1 0 18 80 NETO1 81832 broad.mit.edu 37 18 70451007 70451007 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr18:70451007G>A uc002lkw.2 - 7 1058 c.774C>T c.(772-774)GTC>GTT p.V258V NETO1_uc002lkx.1_Silent_p.V257V|NETO1_uc002lky.1_Silent_p.V258V NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 258 CUB 2.|Extracellular (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TGCGTAGCATGACATCATTAG 0.473 NaN 0 0 0 1 0 154 56 ZNF516 9658 broad.mit.edu 37 18 74091004 74091004 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr18:74091004G>A uc010dqx.1 - 3 3301 c.3066C>T c.(3064-3066)GGC>GGT p.G1022G ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 1022 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) AGGCCGCGTCGCCCCTGGACC 0.731 NaN 0 0 0 1 0 7 23 POLRMT 5442 broad.mit.edu 37 19 630072 630072 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:630072C>G uc002lpf.1 - 3 346 c.290G>C c.(289-291)GGA>GCA p.G97A NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 97 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GCTACCATCTCCACTGCCACA 0.647 NaN 0 0 0 1 0 22 54 APC2 10297 broad.mit.edu 37 19 1466922 1466922 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:1466922C>G uc002lsr.1 + 15 3830 c.3622C>G c.(3622-3624)CCC>GCC p.P1208A APC2_uc002lss.1_Missense_Mutation_p.P790A|APC2_uc002lst.1_Missense_Mutation_p.P1208A|APC2_uc002lsu.1_Missense_Mutation_p.P1207A|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 1208 Interaction with CTNNB1.|5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) GACCATGCCTCCCAGCCGGAG 0.697 NaN 0 0 0 1 0 3 6 CSNK1G2 1455 broad.mit.edu 37 19 1978737 1978737 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:1978737C>T uc002lul.3 + 6 958 c.435C>T c.(433-435)ATC>ATT p.I145I CSNK1G2_uc010dsu.2_Silent_p.I97I NM_001319 NP_001310 P78368 KC1G2_HUMAN casein kinase 1, gamma 2 145 Protein kinase. sphingolipid metabolic process|Wnt receptor signaling pathway cytosol ATP binding|protein serine/threonine kinase activity stomach(1) 1 Ovarian(11;2.11e-07)|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) TGCTGATGATCGCCATCCAGC 0.388 NaN 0 0 0 1 0 3 4 DOT1L 84444 broad.mit.edu 37 19 2226780 2226780 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:2226780C>G uc002lvb.3 + 27 4296 c.4260C>G c.(4258-4260)CTC>CTG p.L1420L DOT1L_uc002lvc.1_Silent_p.L714L NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 1420 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) AGGTCGACCTCAAGAATGGCC 0.741 NaN 0 0 0 1 0 4 10 THOP1 7064 broad.mit.edu 37 19 2794783 2794783 + Missense_Mutation SNP T T C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:2794783T>C uc002lwj.2 + 3 406 c.251T>C c.(250-252)TTC>TCC p.F84S THOP1_uc010xgz.1_5'Flank NM_003249 NP_003240 P52888 THOP1_HUMAN thimet oligopeptidase 1 84 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 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) ATCCTTGACTTCCCCCAGCAT 0.577 NaN 0 0 0 1 0 73 141 CELF5 60680 broad.mit.edu 37 19 3284910 3284910 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:3284910G>C uc002lxm.2 + 9 1087 c.1050G>C c.(1048-1050)CCG>CCC p.P350P CELF5_uc002lxl.1_Silent_p.P350P|CELF5_uc010dtj.1_Silent_p.P325P|CELF5_uc010xhg.1_Silent_p.P236P|CELF5_uc002lxn.2_RNA NM_021938 NP_068757 Q8N6W0 CELF5_HUMAN bruno-like 5, RNA binding protein 350 mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding ovary(2) 2 CTCAGAGCCCGACTGTGGCCG 0.502 NaN 0 0 0 1 0 5 12 ZFR2 23217 broad.mit.edu 37 19 3816809 3816809 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:3816809C>T uc002lyw.2 - 13 1978 c.1966G>A c.(1966-1968)GTC>ATC p.V656I NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 isoform 1 656 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) ACTCGCATGACGCCTTTCAGG 0.388 NaN 0 0 0 1 0 3 5 EEF2 1938 broad.mit.edu 37 19 3979971 3979971 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:3979971C>A uc002lze.2 - 10 1523 c.1440G>T c.(1438-1440)GTG>GTT p.V480V NM_001961 NP_001952 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 480 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) TGCCCGTCTTCACCAGGAACT 0.592 NaN 1 0 0.00198382 1 0.0020207 7 29 MLLT1 4298 broad.mit.edu 37 19 6230705 6230705 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:6230705C>T uc002mek.2 - 4 460 c.296G>A c.(295-297)TGC>TAC p.C99Y NM_005934 NP_005925 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia 99 YEATS. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding skin(1) 1 GTAGGTGAAGCAGACCTTCCT 0.597 NaN T MLL AL 0 0 0 1 0 30 131 ZNF557 79230 broad.mit.edu 37 19 7083276 7083276 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:7083276G>T uc002mgb.2 + 8 1278 c.793G>T c.(793-795)GAG>TAG p.E265* ZNF557_uc002mga.2_Nonsense_Mutation_p.E272*|ZNF557_uc002mgc.2_Nonsense_Mutation_p.E272* NM_001044388 NP_001037853 Q8N988 ZN557_HUMAN zinc finger protein 557 isoform b 265 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung(535;0.179) GTGTTTTCGTGAGTTCCGCAC 0.468 NaN 1 0 1.01871e-10 1 1.1319e-10 20 80 CLEC4G 339390 broad.mit.edu 37 19 7794775 7794775 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:7794775C>G uc002mhp.3 - 8 744 c.675G>C c.(673-675)CTG>CTC p.L225L NM_198492 NP_940894 Q6UXB4 CLC4G_HUMAN C-type lectin domain family 4, member G 225 Extracellular (Potential).|C-type lectin. integral to membrane protein binding|sugar binding 0 GCACAGCCCTCAGGCCCAGCC 0.647 NaN 0 0 0 1 0 9 53 MAP2K7 5609 broad.mit.edu 37 19 7968896 7968896 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:7968896G>A uc002mit.2 + 1 132 c.67G>A c.(67-69)GAG>AAG p.E23K MAP2K7_uc002mis.1_Missense_Mutation_p.E23K|MAP2K7_uc002miv.2_Missense_Mutation_p.E23K|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.E23K|MAP2K7_uc010dvv.2_5'UTR NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 23 Potential. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) GGAGAACCGGGAGGCCCGGCG 0.388 NaN 0 0 0 1 0 6 7 ICAM1 3383 broad.mit.edu 37 19 10385665 10385665 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:10385665G>C uc002mnq.2 + 2 611 c.292G>C c.(292-294)GAT>CAT p.D98H ICAM1_uc010xle.1_Intron NM_000201 NP_000192 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 precursor 98 Extracellular (Potential).|Ig-like C2-type 1. adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) AAACTGCCCTGATGGGCAGTC 0.542 NaN 0 0 0 1 0 29 128 C19orf52 90580 broad.mit.edu 37 19 11040315 11040315 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:11040315G>T uc002mqd.1 + 2 795 c.720G>T c.(718-720)GAG>GAT p.E240D YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank NM_138358 NP_612367 Q9BSF4 CS052_HUMAN hypothetical protein LOC90580 240 0 TGCAGAAGGAGAAGAAGGACA 0.632 NaN 1 0 3.27435e-08 1 3.53832e-08 14 17 C19orf52 90580 broad.mit.edu 37 19 11040364 11040364 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:11040364G>C uc002mqd.1 + 2 844 c.769G>C c.(769-771)GAG>CAG p.E257Q YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank NM_138358 NP_612367 Q9BSF4 CS052_HUMAN hypothetical protein LOC90580 257 0 GGTGCAGGCGGAGGCCCCGAG 0.637 NaN 0 0 0 1 0 4 16 ZNF440 126070 broad.mit.edu 37 19 11943309 11943309 + Nonsense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:11943309C>T uc002msp.1 + 4 1474 c.1318C>T c.(1318-1320)CAA>TAA p.Q440* NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN zinc finger protein 440 440 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAATAACCTTCAAAGTCATGA 0.398 NaN 0 0 0 1 0 12 77 ASF1B 55723 broad.mit.edu 37 19 14232376 14232376 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:14232376C>T uc002mye.2 - 3 542 c.370G>A c.(370-372)GAG>AAG p.E124K NM_018154 NP_060624 Q9NVP2 ASF1B_HUMAN anti-silencing function 1B 124 Interaction with CHAF1B.|Interaction with histone H3 (By similarity). cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus 0 GGCGGGTTCTCACGCAGCTCA 0.557 NaN 0 0 0 1 0 14 81 ASF1B 55723 broad.mit.edu 37 19 14232407 14232407 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:14232407G>C uc002mye.2 - 3 511 c.339C>G c.(337-339)GTC>GTG p.V113V NM_018154 NP_060624 Q9NVP2 ASF1B_HUMAN anti-silencing function 1B 113 Interaction with CHAF1B.|Interaction with histone H3 (By similarity). cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus 0 ACTCGTTGTTGACGTAGTAGC 0.577 NaN 0 0 0 1 0 12 68 ASF1B 55723 broad.mit.edu 37 19 14232458 14232458 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:14232458G>A uc002mye.2 - 3 460 c.288C>T c.(286-288)CTC>CTT p.L96L NM_018154 NP_060624 Q9NVP2 ASF1B_HUMAN anti-silencing function 1B 96 Interaction with CHAF1B.|Interaction with histone H3 (By similarity). cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus 0 TGCAGGTGATGAGGACCACAG 0.592 NaN 0 0 0 1 0 9 44 EMR2 30817 broad.mit.edu 37 19 14876511 14876511 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:14876511C>A uc002mzp.1 - 8 1196 c.740G>T c.(739-741)AGA>ATA p.R247I EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Missense_Mutation_p.R247I|EMR2_uc002mzo.1_Missense_Mutation_p.R247I|EMR2_uc002mzq.1_Missense_Mutation_p.R198I|EMR2_uc002mzr.1_Missense_Mutation_p.R198I|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Missense_Mutation_p.R154I|EMR2_uc002mzu.1_Missense_Mutation_p.R154I|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 247 EGF-like 5; calcium-binding (Potential).|Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 GATTCCGTGTCTGGGCTTCCA 0.607 NaN 1 0 9.16793e-09 1 9.97547e-09 10 66 OR7C2 26658 broad.mit.edu 37 19 15053121 15053121 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:15053121C>T uc010xoc.1 + 1 821 c.821C>T c.(820-822)TCG>TTG p.S274L NM_012377 NP_036509 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, 274 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Ovarian(108;0.203) CTGGCAGCCTCGGTGATGTAC 0.557 NaN 0 0 0 1 0 27 95 EPHX3 79852 broad.mit.edu 37 19 15342142 15342142 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:15342142C>T uc002nap.2 - 3 604 c.395G>A c.(394-396)CGA>CAA p.R132Q EPHX3_uc002naq.2_Missense_Mutation_p.R132Q NM_024794 NP_079070 Q9H6B9 EPHX3_HUMAN abhydrolase domain containing 9 precursor 132 extracellular region hydrolase activity 0 GCCATAGCCTCGCAAGTCCAC 0.617 NaN 0 0 0 1 0 11 34 EPS15L1 58513 broad.mit.edu 37 19 16495955 16495955 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:16495955G>A uc002ndz.1 - 21 2238 c.2232C>T c.(2230-2232)TTC>TTT p.F744F EPS15L1_uc002ndx.2_Silent_p.F744F|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.F634F|EPS15L1_uc010xpf.1_Silent_p.F647F|EPS15L1_uc002nea.1_Silent_p.F744F|EPS15L1_uc010eah.1_Silent_p.F746F NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 744 15 X 3 AA repeats of D-P-F. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 ACATCTGGCTGAAGTCGGCAA 0.542 NaN 0 0 0 1 0 76 92 EPS15L1 58513 broad.mit.edu 37 19 16528407 16528407 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:16528407C>T uc002ndz.1 - 12 1155 c.1149G>A c.(1147-1149)GTG>GTA p.V383V EPS15L1_uc002ndx.2_Silent_p.V383V|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.V273V|EPS15L1_uc010xpf.1_Silent_p.V286V|EPS15L1_uc002nea.1_Silent_p.V383V|EPS15L1_uc010eah.1_Silent_p.V383V|EPS15L1_uc002neb.1_Silent_p.V229V|EPS15L1_uc002nec.1_Silent_p.V383V NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 383 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 CAAGCTCCTTCACGCCAGTAA 0.502 NaN OREG0025334 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 5 40 CHERP 10523 broad.mit.edu 37 19 16653184 16653184 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:16653184C>G uc002nei.1 - 1 80 c.6G>C c.(4-6)GAG>GAC p.E2D MED26_uc002nee.2_Intron|CHERP_uc002nej.2_5'Flank NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 2 cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 GCAGCGGCATCTCCATGGCTC 0.711 NaN 0 0 0 1 0 3 12 FAM125A 93343 broad.mit.edu 37 19 17531000 17531000 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:17531000C>T uc002ngo.1 + 1 89 c.56C>T c.(55-57)TCG>TTG p.S19L FAM125A_uc002ngn.1_Missense_Mutation_p.S19L|FAM125A_uc002ngp.1_5'Flank|FAM125A_uc002ngq.1_5'Flank NM_138401 NP_612410 Q96EY5 F125A_HUMAN family with sequence similarity 125, member A 19 MABP. protein transport late endosome membrane|microtubule organizing center|nucleus SH3 domain binding 0 GCCTGGTCGTCGGCCTCTGCA 0.766 NaN 0 0 0 1 0 3 8 FCHO1 23149 broad.mit.edu 37 19 17895552 17895552 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:17895552C>G uc010ebb.2 + 25 2434 c.2245C>G c.(2245-2247)CAG>GAG p.Q749E FCHO1_uc002nhg.3_Missense_Mutation_p.Q749E|FCHO1_uc002nhh.2_Missense_Mutation_p.Q749E|FCHO1_uc010xpw.1_Missense_Mutation_p.Q699E|FCHO1_uc002nhi.2_Missense_Mutation_p.Q205E|FCHO1_uc002nhj.2_Missense_Mutation_p.Q93E NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 749 breast(1) 1 CCCGGGTCCCCAGTCTGTGCC 0.617 NaN OREG0025350 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 26 72 ZNF536 9745 broad.mit.edu 37 19 31039181 31039181 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:31039181G>A uc002nsu.1 + 4 2793 c.2655G>A c.(2653-2655)CTG>CTA p.L885L ZNF536_uc010edd.1_Silent_p.L885L NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 885 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CAGATGCTCTGAAAGGCACTG 0.552 NaN 0 0 0 1 0 34 144 TSHZ3 57616 broad.mit.edu 37 19 31768677 31768677 + Silent SNP C C T rs151270303 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:31768677C>T uc002nsy.3 - 2 2087 c.2022G>A c.(2020-2022)CCG>CCA p.P674P NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 674 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) ACCCATCCCGCGGGGGGCTGG 0.657 NaN 0 0 0 1 0 12 65 PDCD2L 84306 broad.mit.edu 37 19 34912527 34912527 + Nonsense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:34912527C>T uc002nvj.2 + 6 934 c.901C>T c.(901-903)CAG>TAG p.Q301* NM_032346 NP_115722 Q9BRP1 PDD2L_HUMAN programmed cell death 2-like 301 cytoplasm ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) ATTTGAGTTTCAGCTTATGCC 0.453 NaN 0 0 0 1 0 54 142 PDCD2L 84306 broad.mit.edu 37 19 34912556 34912556 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:34912556C>T uc002nvj.2 + 6 963 c.930C>T c.(928-930)CTC>CTT p.L310L NM_032346 NP_115722 Q9BRP1 PDD2L_HUMAN programmed cell death 2-like 310 cytoplasm ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) TCAGCATGCTCAAGAGTGCTA 0.408 NaN 0 0 0 1 0 50 137 GAPDHS 26330 broad.mit.edu 37 19 36024442 36024442 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:36024442G>A uc002oaf.1 + 1 129 c.13G>A c.(13-15)GAC>AAC p.D5N NM_014364 NP_055179 O14556 G3PT_HUMAN glyceraldehyde-3-phosphate dehydrogenase, 5 gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility cytosol glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding 0 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) NADH(DB00157) GTCGAAGCGCGACATCGTCCT 0.627 NaN 0 0 0 1 0 20 59 APLP1 333 broad.mit.edu 37 19 36365501 36365501 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:36365501C>T uc002oce.2 + 9 1290 c.1152C>T c.(1150-1152)ATC>ATT p.I384I APLP1_uc010xsz.1_Silent_p.I345I|APLP1_uc002ocf.2_Silent_p.I384I|APLP1_uc002ocg.2_Silent_p.I287I|APLP1_uc010xta.1_Silent_p.I378I NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 384 Extracellular (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCGCCCTTATCAACGACCAGC 0.662 NaN 0 0 0 1 0 22 99 ZNF781 163115 broad.mit.edu 37 19 38160085 38160085 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:38160085G>A uc002ogy.2 - 4 1707 c.965C>T c.(964-966)TCA>TTA p.S322L ZNF781_uc002ogz.2_Missense_Mutation_p.S317L NM_152605 NP_689818 Q8N8C0 ZN781_HUMAN zinc finger protein 781 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CATTATGCTTGAAGGCCTTCT 0.378 NaN 0 0 0 1 0 64 115 DPF1 8193 broad.mit.edu 37 19 38713255 38713255 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:38713255G>A uc002ohl.2 - 2 231 c.204C>T c.(202-204)CTC>CTT p.L68L DPF1_uc002ohm.2_Silent_p.L68L|DPF1_uc002ohn.2_5'UTR|DPF1_uc010xtu.1_Silent_p.L42L|DPF1_uc010xtv.1_Silent_p.L42L|DPF1_uc010xtw.1_Silent_p.L42L NM_004647 NP_004638 Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 isoform 68 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding 0 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCTGCGAGTCGAGGAAGGGCA 0.647 NaN 0 0 0 1 0 4 9 SUPT5H 6829 broad.mit.edu 37 19 39963713 39963713 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:39963713C>A uc002olo.3 + 23 2396 c.2217C>A c.(2215-2217)ACC>ACA p.T739T SUPT5H_uc002olp.3_Silent_p.T739T|SUPT5H_uc002olq.3_Silent_p.T735T|SUPT5H_uc002oln.3_Silent_p.T739T|SUPT5H_uc002olr.3_Silent_p.T739T|SUPT5H_uc002ols.1_Silent_p.T362T|SUPT5H_uc010egp.1_Silent_p.T105T NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 739 cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TGCACTCCACCTGCCAGACCA 0.667 NaN 1 0 0.000673444 1 0.000690993 10 57 SUPT5H 6829 broad.mit.edu 37 19 39963872 39963872 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:39963872C>A uc002olo.3 + 24 2467 c.2288C>A c.(2287-2289)TCG>TAG p.S763* SUPT5H_uc002olp.3_Nonsense_Mutation_p.S763*|SUPT5H_uc002olq.3_Nonsense_Mutation_p.S759*|SUPT5H_uc002oln.3_Nonsense_Mutation_p.S763*|SUPT5H_uc002olr.3_Nonsense_Mutation_p.S763*|SUPT5H_uc002ols.1_Nonsense_Mutation_p.S386*|SUPT5H_uc010egp.1_Silent_p.L128L NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 763 CTR1-2.|9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGCATGACCTCGACCTATGGG 0.652 NaN 1 0 5.01169e-05 1 5.22743e-05 16 92 SELV 348303 broad.mit.edu 37 19 40009746 40009746 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:40009746G>A uc010xvc.1 + 6 1099 c.999G>A c.(997-999)CAG>CAA p.Q333Q NM_182704 NP_874363 P59797 SELV_HUMAN selenoprotein V 333 cell redox homeostasis selenium binding 0 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCAGGCTGCAGAAAATTGTGA 0.597 NaN 0 0 0 1 0 10 61 PLD3 23646 broad.mit.edu 37 19 40872415 40872415 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:40872415G>T uc002onm.3 + 3 423 c.25G>T c.(25-27)GAG>TAG p.E9* PLD3_uc002onj.3_Nonsense_Mutation_p.E9*|PLD3_uc002onk.3_Nonsense_Mutation_p.E9*|PLD3_uc002onl.3_Nonsense_Mutation_p.E9*|PLD3_uc002onn.2_Nonsense_Mutation_p.E9*|PLD3_uc002ono.2_Nonsense_Mutation_p.E9* NM_001031696 NP_001026866 Q8IV08 PLD3_HUMAN phospholipase D3 9 Cytoplasmic (Potential). lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding skin(2)|ovary(1) 3 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) GATGTACCAGGAGGTAGGTGG 0.597 NaN 1 0 7.45023e-12 1 8.35168e-12 20 55 CYP2A13 1553 broad.mit.edu 37 19 41594955 41594955 + Missense_Mutation SNP G G A rs148044792 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:41594955G>A uc002opt.2 + 2 311 c.302G>A c.(301-303)CGA>CAA p.R101Q NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 101 R -> Q (in allele CYP2A13*4). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) TTCAGCGGGCGAGGCGAGCAG 0.642 NaN 0 0 0 1 0 16 65 CYP2F1 1572 broad.mit.edu 37 19 41633861 41633861 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:41633861C>A uc002opu.1 + 10 1406 c.1350C>A c.(1348-1350)CTC>CTA p.L450L CYP2F1_uc010xvw.1_Intron|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 450 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 TTCTGTACCTCACCGCCATCC 0.647 NaN 1 0 0.004672 1 0.00473971 3 17 CYP2S1 29785 broad.mit.edu 37 19 41709440 41709440 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:41709440C>T uc002opw.2 + 7 1117 c.1062C>T c.(1060-1062)GAC>GAT p.D354D CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Silent_p.D79D NM_030622 NP_085125 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, 354 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity skin(1) 1 CTTACACCGACGCGGTTCTGC 0.672 NaN 0 0 0 1 0 4 12 ARHGEF1 9138 broad.mit.edu 37 19 42399472 42399472 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:42399472C>T uc002orx.2 + 12 1037 c.928C>T c.(928-930)CGG>TGG p.R310W ARHGEF1_uc002orw.1_Missense_Mutation_p.R310W|ARHGEF1_uc002ory.2_Missense_Mutation_p.R277W|ARHGEF1_uc002orz.2_Missense_Mutation_p.R148W|ARHGEF1_uc002osa.2_Missense_Mutation_p.R325W|ARHGEF1_uc002osb.2_Missense_Mutation_p.R292W|ARHGEF1_uc002osc.2_Missense_Mutation_p.R4W|ARHGEF1_uc002osd.2_5'Flank NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 310 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) GATGCCCTCTCGGGACCGGAA 0.607 NaN 0 0 0 1 0 50 103 ARHGEF1 9138 broad.mit.edu 37 19 42410099 42410099 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:42410099G>A uc002orx.2 + 26 2522 c.2413G>A c.(2413-2415)GAG>AAG p.E805K ARHGEF1_uc002ory.2_Missense_Mutation_p.E772K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E643K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E820K|ARHGEF1_uc002osb.2_Missense_Mutation_p.E787K|ARHGEF1_uc002osc.2_Missense_Mutation_p.E559K|ARHGEF1_uc002osd.2_Missense_Mutation_p.E464K|ARHGEF1_uc002ose.2_Missense_Mutation_p.E249K NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 805 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) AGCCCGGACCGAGAGAATCCT 0.667 NaN 0 0 0 1 0 21 67 CEACAM1 634 broad.mit.edu 37 19 43026086 43026086 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:43026086C>T uc002otv.2 - 3 806 c.693G>A c.(691-693)TTG>TTA p.L231L uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Silent_p.L231L|CEACAM1_uc010eij.2_Silent_p.L231L|CEACAM1_uc002otx.2_Silent_p.L231L|CEACAM1_uc002oty.2_Silent_p.L231L|CEACAM1_uc002otz.2_Silent_p.L231L|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Silent_p.L231L|CEACAM1_uc002oub.2_Silent_p.L231L|CEACAM1_uc002ouc.2_Silent_p.L231L NM_001712 NP_001703 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion 231 Ig-like C2-type 1.|Extracellular (Potential). angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction ovary(1)|central_nervous_system(1) 2 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) AGGTGACATTCAAGGTGACTG 0.552 NaN 0 0 0 1 0 28 184 C19orf61 56006 broad.mit.edu 37 19 44244303 44244303 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:44244303C>G uc002oxj.2 - 7 1112 c.769G>C c.(769-771)GAC>CAC p.D257H C19orf61_uc002oxk.2_Missense_Mutation_p.D257H|C19orf61_uc010eiy.1_Missense_Mutation_p.D257H NM_019108 NP_061981 Q9H0W8 SMG9_HUMAN SMG9 protein 257 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay intracellular protein binding 0 Prostate(69;0.0352) ATAAAGAAGTCGATGCCACTG 0.572 NaN 0 0 0 1 0 40 103 ZNF225 7768 broad.mit.edu 37 19 44636229 44636229 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:44636229G>C uc002oyj.1 + 5 1705 c.1462G>C c.(1462-1464)GAA>CAA p.E488Q ZNF225_uc010eje.1_Missense_Mutation_p.E405Q|ZNF225_uc010ejf.1_Missense_Mutation_p.E488Q NM_013362 NP_037494 Q9UK10 ZN225_HUMAN zinc finger protein 225 488 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) TAAATGTGAAGAATGTGGGAA 0.393 NaN 0 0 0 1 0 27 83 GRLF1 2909 broad.mit.edu 37 19 47423577 47423577 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:47423577C>G uc010ekv.2 + 1 1645 c.1645C>G c.(1645-1647)CAT>GAT p.H549D NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 549 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) GAAACACATTCATTTTGTGTA 0.473 NaN 0 0 0 1 0 80 116 NAPA 8775 broad.mit.edu 37 19 47991562 47991562 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:47991562C>T uc002pha.1 - 11 1171 c.871G>A c.(871-873)GAG>AAG p.E291K uc002pgz.1_Intron|NAPA_uc002phb.1_Missense_Mutation_p.E252K|NAPA_uc002phc.1_Missense_Mutation_p.E178K|NAPA_uc002phd.1_Missense_Mutation_p.E291K NM_003827 NP_003818 P54920 SNAA_HUMAN N-ethylmaleimide-sensitive factor attachment 291 cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport cytosol 0 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049) AGGTCCTCCTCATCGCCCTGG 0.632 NaN 0 0 0 1 0 17 70 SPHK2 56848 broad.mit.edu 37 19 49132306 49132306 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:49132306C>A uc002pjr.2 + 7 1607 c.1241C>A c.(1240-1242)TCA>TAA p.S414* SPHK2_uc010xzt.1_Nonsense_Mutation_p.S355*|SPHK2_uc002pjs.2_Nonsense_Mutation_p.S414*|SPHK2_uc002pjt.2_Nonsense_Mutation_p.S208*|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Nonsense_Mutation_p.S378*|SPHK2_uc002pjw.2_Nonsense_Mutation_p.S476* NM_020126 NP_064511 Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 414 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity lung(1) 1 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) atggcccactcacccctgcat 0.338 NaN 1 0 4.7546e-09 1 5.20035e-09 17 21 RUVBL2 10856 broad.mit.edu 37 19 49514296 49514296 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:49514296C>T uc002plr.1 + 10 841 c.828C>T c.(826-828)ATC>ATT p.I276I RUVBL2_uc002plq.1_Silent_p.I231I|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Silent_p.I231I|RUVBL2_uc010yac.1_Silent_p.I231I NM_006666 NP_006657 Q9Y230 RUVB2_HUMAN RuvB-like 2 276 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) GTGAGCAGATCAATGCCAAGG 0.637 NaN 0 0 0 1 0 6 23 CD37 951 broad.mit.edu 37 19 49842010 49842010 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:49842010G>A uc002pnd.2 + 6 622 c.501G>A c.(499-501)CTG>CTA p.L167L uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Silent_p.L167L|CD37_uc010yan.1_Silent_p.L99L|CD37_uc002pnf.3_Silent_p.L139L|CD37_uc002pne.2_Silent_p.L99L NM_001774 NP_001765 P11049 CD37_HUMAN CD37 antigen isoform A 167 Extracellular (Potential). integral to membrane 0 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) TCCTCATCCTGAGAGGTAACG 0.607 NaN 0 0 0 1 0 19 108 FCGRT 2217 broad.mit.edu 37 19 50017149 50017149 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:50017149C>T uc002poe.2 + 3 570 c.84C>T c.(82-84)CTC>CTT p.L28L FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Silent_p.L28L|FCGRT_uc002pof.1_5'UTR|FCGRT_uc010yax.1_Silent_p.L28L|FCGRT_uc002poh.1_5'Flank NM_001136019 NP_001129491 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 28 Extracellular (Potential).|Alpha-1. antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity ovary(1) 1 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) AAAGCCACCTCTCCCTCCTGT 0.612 NaN 0 0 0 1 0 72 223 SHANK1 50944 broad.mit.edu 37 19 51169834 51169834 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:51169834C>G uc002psx.1 - 22 5402 c.5383G>C c.(5383-5385)GAT>CAT p.D1795H SHANK1_uc002psw.1_Missense_Mutation_p.D1179H NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1795 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) AGCAGCCCATCGGTTCCAGCC 0.721 NaN 0 0 0 1 0 4 18 ZNF577 84765 broad.mit.edu 37 19 52375790 52375790 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:52375790C>A uc010yde.1 - 7 1844 c.1453G>T c.(1453-1455)GAA>TAA p.E485* ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Nonsense_Mutation_p.E426*|ZNF577_uc002pxv.2_Nonsense_Mutation_p.E478*|ZNF577_uc002pxw.2_Nonsense_Mutation_p.E419* NM_032679 NP_116068 Q9BSK1 ZN577_HUMAN zinc finger protein 577 isoform a 485 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) AAGATTTATTCTGATACAATA 0.373 NaN 1 0 0.014758 1 0.0149118 5 18 PPP2R1A 5518 broad.mit.edu 37 19 52719907 52719907 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:52719907G>A uc002pyp.2 + 9 1278 c.1119G>A c.(1117-1119)CTG>CTA p.L373L PPP2R1A_uc010ydk.1_Silent_p.L318L|PPP2R1A_uc010epm.1_Silent_p.L413L|PPP2R1A_uc002pyq.2_Silent_p.L194L NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 373 PP2A subunit B binding.|HEAT 10. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) TGGCTCAGCTGAAGGATGAGG 0.547 NaN Mis clear cell ovarian carcinoma 0 0 0 1 0 30 50 ZNF578 147660 broad.mit.edu 37 19 53013953 53013953 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:53013953G>A uc002pzp.3 + 6 563 c.319G>A c.(319-321)GAA>AAA p.E107K NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) CCAGGAAATTGAAAAAGATAT 0.398 NaN 0 0 0 1 0 63 166 ZNF813 126017 broad.mit.edu 37 19 53995335 53995335 + Missense_Mutation SNP A A G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:53995335A>G uc002qbu.2 + 4 1977 c.1849A>G c.(1849-1851)AAT>GAT p.N617D ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 617 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) CAAAGCTTTTAATTGAAAAGC 0.373 NaN 0 0 0 1 0 7 30 OSCAR 126014 broad.mit.edu 37 19 54600327 54600327 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:54600327G>A uc002qdd.2 - 4 387 c.270C>T c.(268-270)TTC>TTT p.F90F OSCAR_uc002qcy.2_Silent_p.F69F|OSCAR_uc002qcz.2_Silent_p.F65F|OSCAR_uc002qda.2_Silent_p.F69F|OSCAR_uc002qdb.2_Silent_p.F54F|OSCAR_uc010erc.2_Nonsense_Mutation_p.Q33*|OSCAR_uc002qdc.2_Silent_p.F79F NM_206818 NP_996554 Q8IYS5 OSCAR_HUMAN osteoclast-associated receptor isoform 1 65 Ig-like 1. extracellular region|integral to membrane|plasma membrane receptor activity 0 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) CTCCAGGCTTGAAAAGTCCAA 0.587 NaN 0 0 0 1 0 45 118 PRPF31 26121 broad.mit.edu 37 19 54627903 54627903 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:54627903C>G uc002qdh.2 + 8 1119 c.723C>G c.(721-723)CTC>CTG p.L241L PRPF31_uc010yek.1_Silent_p.L241L NM_015629 NP_056444 Q8WWY3 PRP31_HUMAN pre-mRNA processing factor 31 homolog 241 Nop. assembly of spliceosomal tri-snRNP Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP RNA binding|snRNP binding ovary(1) 1 all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TGACCAACCTCTCCAAGATGC 0.647 NaN 0 0 0 1 0 12 101 LILRA1 11024 broad.mit.edu 37 19 55107894 55107894 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:55107894C>T uc002qgh.1 + 7 1381 c.1199C>T c.(1198-1200)TCA>TTA p.S400L LILRA2_uc010yfg.1_Missense_Mutation_p.S398L|LILRA1_uc010yfh.1_Missense_Mutation_p.S400L NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 400 Ig-like C2-type 4.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) TGCTACGGCTCACTCAGCTCC 0.572 NaN 0 0 0 1 0 80 136 LILRA1 11024 broad.mit.edu 37 19 55107923 55107923 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:55107923C>T uc002qgh.1 + 7 1410 c.1228C>T c.(1228-1230)CAC>TAC p.H410Y LILRA2_uc010yfg.1_Missense_Mutation_p.H408Y|LILRA1_uc010yfh.1_Missense_Mutation_p.H410Y NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 410 Ig-like C2-type 4.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) CCTGCTGTCTCACCCCAGTGA 0.612 NaN 0 0 0 1 0 66 120 NLRP2 55655 broad.mit.edu 37 19 55493683 55493683 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:55493683C>T uc002qij.2 + 6 703 c.617C>T c.(616-618)TCA>TTA p.S206L NLRP2_uc010yfp.1_Missense_Mutation_p.S183L|NLRP2_uc010esn.2_Missense_Mutation_p.S182L|NLRP2_uc010eso.2_Missense_Mutation_p.S203L|NLRP2_uc010esp.2_Missense_Mutation_p.S184L NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 206 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GGGCCCTTCTCATACACGGTG 0.542 NaN 0 0 0 1 0 24 94 NLRP2 55655 broad.mit.edu 37 19 55502018 55502018 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:55502018G>A uc002qij.2 + 10 2772 c.2686G>A c.(2686-2688)GAG>AAG p.E896K NLRP2_uc010yfp.1_Missense_Mutation_p.E873K|NLRP2_uc010esn.2_Missense_Mutation_p.E872K|NLRP2_uc010eso.2_Missense_Mutation_p.E893K|NLRP2_uc010esp.2_Missense_Mutation_p.E874K NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 896 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GAGGTACCCCGAGTGTAAACT 0.567 NaN 0 0 0 1 0 14 64 NLRP11 204801 broad.mit.edu 37 19 56321174 56321174 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:56321174C>T uc010ygf.1 - 5 1513 c.802G>A c.(802-804)GCT>ACT p.A268T NLRP11_uc002qlz.2_Missense_Mutation_p.A169T|NLRP11_uc002qmb.2_Missense_Mutation_p.A169T|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 268 NACHT. ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CAGCCTGGAGCCATTTTTCTC 0.458 NaN 0 0 0 1 0 11 53 ZNF329 79673 broad.mit.edu 37 19 58639517 58639517 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:58639517C>T uc002qrn.2 - 4 1591 c.1354G>A c.(1354-1356)GAG>AAG p.E452K ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) TAGGGCTTCTCACCAGTATGA 0.502 NaN 0 0 0 1 0 9 65 ZNF132 7691 broad.mit.edu 37 19 58948469 58948469 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr19:58948469C>G uc002qst.3 - 2 578 c.177G>C c.(175-177)CAG>CAC p.Q59H NM_003433 NP_003424 P52740 ZN132_HUMAN zinc finger protein 132 59 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) ACAGGTGCCTCTGGGCTGCAT 0.517 NaN 0 0 0 1 0 13 60 TPO 7173 broad.mit.edu 37 2 1500420 1500420 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:1500420G>A uc002qww.2 + 13 2360 c.2269G>A c.(2269-2271)GAG>AAG p.E757K TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.E700K|TPO_uc002qwr.2_Missense_Mutation_p.E757K|TPO_uc002qwx.2_Missense_Mutation_p.E700K|TPO_uc010yio.1_Missense_Mutation_p.E584K|TPO_uc010yip.1_Missense_Mutation_p.E757K|TPO_uc002qwy.1_Missense_Mutation_p.E97K|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 757 Extracellular (Potential).|Sushi. cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TGTGCACTGTGAGGAGTCTGG 0.547 NaN 0 0 0 1 0 45 83 RNASEH1 246243 broad.mit.edu 37 2 3596688 3596688 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:3596688C>A uc002qxt.2 - 5 614 c.524G>T c.(523-525)AGA>ATA p.R175I RNASEH1_uc002qxs.2_Missense_Mutation_p.R58I NM_002936 NP_002927 O60930 RNH1_HUMAN ribonuclease H1 175 RNase H. RNA catabolic process cytoplasm magnesium ion binding|ribonuclease H activity|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22) CCCAGGAAGTCTAATGCCTAC 0.328 NaN 1 0 7.38237e-10 1 8.16662e-10 28 218 RSAD2 91543 broad.mit.edu 37 2 7018251 7018251 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:7018251G>A uc002qyp.1 + 1 456 c.320G>A c.(319-321)AGA>AAA p.R107K NM_080657 NP_542388 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 107 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) GAAGCAAAGAGAGGATTGCTT 0.507 NaN 0 0 0 1 0 17 30 IAH1 285148 broad.mit.edu 37 2 9628347 9628347 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:9628347C>T uc002qzr.2 + 6 662 c.636C>T c.(634-636)CTC>CTT p.L212L IAH1_uc002qzs.2_Silent_p.L99L|IAH1_uc002qzt.2_Silent_p.L99L|IAH1_uc010yiz.1_RNA NM_001039613 NP_001034702 Q2TAA2 IAH1_HUMAN isoamyl acetate-hydrolyzing esterase 1 homolog 212 lipid catabolic process hydrolase activity, acting on ester bonds 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TCTCGCATCTCTGGCCTTTGA 0.428 NaN 0 0 0 1 0 12 79 ODC1 4953 broad.mit.edu 37 2 10582001 10582001 + Missense_Mutation SNP T T C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:10582001T>C uc010exg.1 - 10 1402 c.968A>G c.(967-969)TAT>TGT p.Y323C ODC1_uc002ran.1_Missense_Mutation_p.Y9C|ODC1_uc002rao.1_Missense_Mutation_p.Y323C|ODC1_uc010yjd.1_Missense_Mutation_p.Y193C NM_002539 NP_002530 P11926 DCOR_HUMAN ornithine decarboxylase 1 323 polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus cytosol ornithine decarboxylase activity|protein binding ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161) Pyridoxal Phosphate(DB00114)|Spermine(DB00127) AAATGATCCATAGACGCCATC 0.383 NaN 0 0 0 1 0 35 168 PQLC3 130814 broad.mit.edu 37 2 11295764 11295764 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:11295764C>T uc002rbc.2 + 1 225 c.92C>T c.(91-93)GCG>GTG p.A31V PQLC3_uc010yjk.1_Missense_Mutation_p.A31V NM_152391 NP_689604 Q8N755 PQLC3_HUMAN PQ loop repeat containing 3 precursor 31 integral to membrane 0 all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132) GTGCTAGCGGCGCGCAGCGCG 0.721 NaN 0 0 0 1 0 3 3 MATN3 4148 broad.mit.edu 37 2 20205794 20205794 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:20205794C>A uc002rdl.2 - 2 564 c.501G>T c.(499-501)CAG>CAT p.Q167H MATN3_uc010exu.1_Missense_Mutation_p.Q167H NM_002381 NP_002372 O15232 MATN3_HUMAN matrilin 3 precursor 167 VWFA. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCATTGCTGTCTGGATGGCTA 0.567 NaN 1 0 2.32078e-09 1 2.5472e-09 14 52 RHOB 388 broad.mit.edu 37 2 20647712 20647712 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:20647712G>C uc002rdv.2 + 1 878 c.486G>C c.(484-486)AAG>AAC p.K162N NM_004040 NP_004031 P62745 RHOB_HUMAN ras homolog gene family, member B precursor 162 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) GCTCTGCCAAGACCAAGGAAG 0.667 NaN 0 0 0 1 0 19 126 OTOF 9381 broad.mit.edu 37 2 26706399 26706399 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:26706399C>G uc002rhk.2 - 13 1450 c.1323G>C c.(1321-1323)AAG>AAC p.K441N NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 441 Cytoplasmic (Potential).|C2 2. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGAAAGCCTTCTTTACATTGG 0.567 NaN 0 0 0 1 0 17 62 C2orf70 339778 broad.mit.edu 37 2 26800472 26800472 + Missense_Mutation SNP A A T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:26800472A>T uc010eyn.2 + 3 437 c.437A>T c.(436-438)GAA>GTA p.E146V NM_001105519 NP_001098989 A6NJV1 CB070_HUMAN hypothetical protein LOC339778 146 skin(1) 1 AGGGAGCCGGAACGGTACCCC 0.597 NaN OREG0014506 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 8 52 EIF2B4 8890 broad.mit.edu 37 2 27589789 27589789 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:27589789G>T uc002rkb.2 - 11 1171 c.1028C>A c.(1027-1029)TCA>TAA p.S343* EIF2B4_uc002rjz.2_Nonsense_Mutation_p.S363*|EIF2B4_uc002rka.2_Nonsense_Mutation_p.S328*|EIF2B4_uc002rkc.2_Nonsense_Mutation_p.S342*|EIF2B4_uc002rkd.2_Nonsense_Mutation_p.S137*|EIF2B4_uc002rke.2_Nonsense_Mutation_p.S312*|EIF2B4_uc002rkf.1_3'UTR NM_001034116 NP_001029288 Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, 343 myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGAATTCGTGATACCAGAGA 0.502 NaN 1 0 2.01872e-29 1 2.3357e-29 41 273 EIF2B4 8890 broad.mit.edu 37 2 27589796 27589796 + Missense_Mutation SNP G G T rs145468921 by1000genomes TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:27589796G>T uc002rkb.2 - 11 1164 c.1021C>A c.(1021-1023)CTG>ATG p.L341M EIF2B4_uc002rjz.2_Missense_Mutation_p.L361M|EIF2B4_uc002rka.2_Missense_Mutation_p.L326M|EIF2B4_uc002rkc.2_Missense_Mutation_p.L340M|EIF2B4_uc002rkd.2_Missense_Mutation_p.L135M|EIF2B4_uc002rke.2_Missense_Mutation_p.L310M|EIF2B4_uc002rkf.1_3'UTR NM_001034116 NP_001029288 Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, 341 myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGTGATACCAGAGATGAGCTA 0.502 NaN 1 0 6.61955e-31 1 7.67307e-31 37 271 NRBP1 29959 broad.mit.edu 37 2 27656634 27656634 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:27656634C>G uc002rko.2 + 4 1137 c.305C>G c.(304-306)TCT>TGT p.S102C NRBP1_uc002rkq.2_Missense_Mutation_p.S102C|NRBP1_uc002rkp.2_Missense_Mutation_p.S102C|NRBP1_uc002rkr.2_5'Flank NM_013392 NP_037524 Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 102 Protein kinase. ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(172;0.155) GTACAGTTCTCTGAACGCAAG 0.478 NaN 0 0 0 1 0 35 57 GPN1 11321 broad.mit.edu 37 2 27864120 27864120 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:27864120G>A uc010ymc.1 + 11 877 c.856G>A c.(856-858)GAA>AAA p.E286K GPN1_uc010ezf.2_Missense_Mutation_p.E260K|GPN1_uc010yma.1_Missense_Mutation_p.E193K|GPN1_uc010ymb.1_Missense_Mutation_p.E177K|GPN1_uc010ymd.1_Missense_Mutation_p.E167K|GPN1_uc010yme.1_Intron|GPN1_uc010ezg.1_Missense_Mutation_p.E167K NM_007266 NP_009197 Q9HCN4 GPN1_HUMAN GPN-loop GTPase 1 isoform a 272 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding 0 GTATCGTCCTGAATATGAACG 0.373 NaN 0 0 0 1 0 29 61 SLC4A1AP 22950 broad.mit.edu 37 2 27908000 27908000 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:27908000G>T uc002rlk.3 + 10 2254 c.1972G>T c.(1972-1974)GAG>TAG p.E658* NM_018158 NP_060628 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), 658 Glu-rich. cytoplasm|nucleus double-stranded RNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155) agaggaagaagagaaagaaaa 0.363 NaN 1 0 9.80776e-20 1 1.12446e-19 30 88 SPDYA 245711 broad.mit.edu 37 2 29052060 29052060 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:29052060G>A uc002rmj.2 + 6 633 c.427G>A c.(427-429)GAA>AAA p.E143K SPDYA_uc002rmi.2_Missense_Mutation_p.E143K|SPDYA_uc002rmk.2_Missense_Mutation_p.E143K|SPDYA_uc002rml.2_Missense_Mutation_p.E143K NM_182756 NP_877433 Q5MJ70 SPDYA_HUMAN speedy homolog A isoform 1 143 Speedy/Ringo box; Required for CDK- binding (By similarity). G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus nucleus protein kinase binding upper_aerodigestive_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) AACCAAGTACGAAATTTTTCC 0.279 NaN 0 0 0 1 0 11 65 BIRC6 57448 broad.mit.edu 37 2 32617216 32617216 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:32617216C>G uc010ezu.2 + 5 1083 c.949C>G c.(949-951)CAG>GAG p.Q317E NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 317 BIR. anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) ATTTTATCATCAGGTAAAAAA 0.368 NaN 0 0 0 1 0 3 12 VIT 5212 broad.mit.edu 37 2 37035867 37035867 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:37035867C>T uc002rpl.2 + 15 1863 c.1642C>T c.(1642-1644)CGC>TGC p.R548C VIT_uc002rpm.2_Missense_Mutation_p.R526C|VIT_uc010ezv.2_Missense_Mutation_p.R504C|VIT_uc010ezw.2_Missense_Mutation_p.R505C NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 533 VWFA 2. proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) CACGGACACGCGCATCGGGGC 0.587 NaN 0 0 0 1 0 14 91 VIT 5212 broad.mit.edu 37 2 37041503 37041503 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:37041503G>A uc002rpl.2 + 16 2302 c.2081G>A c.(2080-2082)TGA>TAA p.*694* VIT_uc002rpm.2_Silent_p.*672*|VIT_uc010ezv.2_Silent_p.*650*|VIT_uc010ezw.2_Silent_p.*651* NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 694 proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) CCTCGGAACTGAATTCAGAGC 0.517 NaN 0 0 0 1 0 28 37 SULT6B1 391365 broad.mit.edu 37 2 37402322 37402322 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:37402322G>C uc002rpu.2 - 5 484 c.463C>G c.(463-465)CTT>GTT p.L155V SULT6B1_uc010yni.1_Intron NM_001032377 NP_001027549 Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 193 cytoplasm sulfotransferase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(82;0.248) TCGCCATCAAGATGTTTGTTC 0.313 NaN 0 0 0 1 0 8 48 SULT6B1 391365 broad.mit.edu 37 2 37410658 37410658 + Splice_Site SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:37410658C>G uc002rpu.2 - 3 220 c.199_splice c.e3-1 p.R67_splice SULT6B1_uc010yni.1_Splice_Site NM_001032377 NP_001027549 Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member cytoplasm sulfotransferase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(82;0.248) CTTTCATTCTCTTAAAAATAT 0.328 NaN 0 0 0 1 0 19 47 PRKD3 23683 broad.mit.edu 37 2 37516589 37516589 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:37516589C>G uc002rqd.2 - 4 1182 c.627G>C c.(625-627)AAG>AAC p.K209N PRKD3_uc002rqf.1_Missense_Mutation_p.K209N NM_005813 NP_005804 O94806 KPCD3_HUMAN protein kinase D3 209 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity lung(2)|ovary(1)|central_nervous_system(1) 4 all_hematologic(82;0.21) ACAGACGTCTCTTTCTTACTC 0.398 NaN 0 0 0 1 0 32 70 CYP1B1 1545 broad.mit.edu 37 2 38302448 38302448 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:38302448C>T uc002rqo.2 - 3 487 c.84G>A c.(82-84)TCG>TCA p.S28S NM_000104 NP_000095 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, 28 S -> W (in POAG). visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(82;0.21) Estrone(DB00655) TGGCCAGCACCGACAGGAGTA 0.682 NaN 0 0 0 1 0 5 13 ABCG5 64240 broad.mit.edu 37 2 44041638 44041638 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:44041638G>A uc002rtn.2 - 12 1880 c.1740C>T c.(1738-1740)TTC>TTT p.F580F ABCG5_uc002rtm.2_Silent_p.F185F|ABCG5_uc002rto.2_Silent_p.F409F|ABCG5_uc002rtp.2_Silent_p.F185F NM_022436 NP_071881 Q9H222 ABCG5_HUMAN ATP-binding cassette sub-family G member 5 580 Extracellular (Potential).|ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity ovary(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TCAGTCCGTAGAACTCATTGA 0.308 NaN 0 0 0 1 0 9 56 MSH6 2956 broad.mit.edu 37 2 48027189 48027189 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:48027189C>G uc002rwd.3 + 4 2219 c.2067C>G c.(2065-2067)TTC>TTG p.F689L MSH6_uc002rwc.2_Missense_Mutation_p.F689L|MSH6_uc010fbj.2_Missense_Mutation_p.F387L|MSH6_uc010yoi.1_Missense_Mutation_p.F559L|MSH6_uc010yoj.1_Missense_Mutation_p.F387L NM_000179 NP_000170 P52701 MSH6_HUMAN mutS homolog 6 689 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1) 168 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GTTGTGTCTTCTACCTCAAAA 0.423 NaN Mis|N|F|S colorectal colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 0 0 0 1 0 54 169 PNPT1 87178 broad.mit.edu 37 2 55900125 55900125 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:55900125G>T uc002rzf.2 - 9 822 c.769C>A c.(769-771)CAG>AAG p.Q257K PNPT1_uc002rzg.2_RNA NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 257 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TGAATGCCCTGAATTATTTGT 0.398 NaN 1 0 1.40151e-16 1 1.59955e-16 19 134 ARHGAP25 9938 broad.mit.edu 37 2 69053293 69053293 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:69053293C>G uc002seu.2 + 11 2269 c.1905C>G c.(1903-1905)GTC>GTG p.V635V ARHGAP25_uc010fdg.2_Silent_p.V636V|ARHGAP25_uc010yql.1_Silent_p.V596V|ARHGAP25_uc002sew.2_Silent_p.V628V|ARHGAP25_uc002sex.2_Silent_p.V629V|ARHGAP25_uc002sey.2_Silent_p.V362V NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 635 Potential. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 AGGAATTTGTCAAATCCATGA 0.552 NaN 0 0 0 1 0 12 73 SFXN5 94097 broad.mit.edu 37 2 73226123 73226123 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:73226123G>T uc002siq.2 - 9 620 c.489C>A c.(487-489)TTC>TTA p.F163L SFXN5_uc002sio.2_Missense_Mutation_p.F55L|SFXN5_uc010yrc.1_Nonsense_Mutation_p.S20*|SFXN5_uc002sip.2_Intron|SFXN5_uc010fet.2_Missense_Mutation_p.F163L NM_144579 NP_653180 Q8TD22 SFXN5_HUMAN sideroflexin 5 163 Helical; (Potential). iron ion homeostasis integral to membrane cation transmembrane transporter activity ovary(1) 1 ATCCCTGGATGAACTTGGATG 0.592 NaN 1 0 5.18039e-06 1 5.46217e-06 8 32 FBXO41 150726 broad.mit.edu 37 2 73487572 73487572 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:73487572C>A uc002sjb.1 - 11 2577 c.2577G>T c.(2575-2577)GAG>GAT p.E859D NM_001080410 NP_001073879 Q8TF61 FBX41_HUMAN F-box protein 41 798 intracellular protein binding|zinc ion binding breast(2)|pancreas(1) 3 GCACCAGCATCTCCAGTCCCT 0.617 NaN 1 0 6.4e-05 1 6.66446e-05 3 17 EGR4 1961 broad.mit.edu 37 2 73519500 73519500 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:73519500G>A uc010yrj.1 - 2 930 c.855C>T c.(853-855)GTC>GTT p.V285V EGR4_uc010yrk.1_Silent_p.V284V NM_001965 NP_001956 Q05215 EGR4_HUMAN early growth response 4 181 intracellular nucleic acid binding|zinc ion binding 0 GGCCGGGCTTGACGTCGGGCG 0.721 NaN 0 0 0 1 0 4 13 TPRKB 51002 broad.mit.edu 37 2 73957849 73957849 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:73957849C>G uc002sjn.2 - 4 390 c.279G>C c.(277-279)TTG>TTC p.L93F TPRKB_uc002sjm.2_Missense_Mutation_p.L132F|TPRKB_uc002sjl.2_Missense_Mutation_p.L60F|TPRKB_uc002sjo.2_Missense_Mutation_p.L93F|TPRKB_uc010yrm.1_Missense_Mutation_p.L60F NM_016058 NP_057142 Q9Y3C4 TPRKB_HUMAN TP53RK binding protein 93 protein catabolic process cytosol|nucleus protein kinase binding ovary(1)|skin(1) 2 CAAATTTTTTCAAAGCCTCTG 0.308 NaN 0 0 0 1 0 9 59 SLC4A5 57835 broad.mit.edu 37 2 74466593 74466593 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:74466593C>T uc002sko.1 - 16 2190 c.2188G>A c.(2188-2190)GGG>AGG p.G730R SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.G730R|SLC4A5_uc010ffc.1_Missense_Mutation_p.G730R|SLC4A5_uc002skp.1_Missense_Mutation_p.G666R|SLC4A5_uc002sks.1_Missense_Mutation_p.G730R NM_021196 NP_067019 Q9BY07 S4A5_HUMAN sodium bicarbonate transporter 4 isoform a 730 Cytoplasmic (Potential). apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 9 AGCAGGCGCCCGCCGTAGCTC 0.537 NaN 0 0 0 1 0 32 62 MRPL53 116540 broad.mit.edu 37 2 74699709 74699709 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:74699709C>G uc002sln.2 - 1 219 c.79G>C c.(79-81)GTG>CTG p.V27L CCDC142_uc002slo.2_RNA NM_053050 NP_444278 Q96EL3 RM53_HUMAN mitochondrial ribosomal protein L53 precursor 27 mitochondrion|ribosome 0 GTCGATTCCACGTTTTTCTCG 0.592 NaN 0 0 0 1 0 13 80 LBX2 85474 broad.mit.edu 37 2 74725193 74725193 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:74725193G>A uc002slv.3 - 2 463 c.458C>T c.(457-459)TCG>TTG p.S153L LBX2_uc002slw.2_Missense_Mutation_p.S149L NM_001009812 NP_001009812 Q6XYB7 LBX2_HUMAN ladybird homeobox 2 153 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGCGCGTAGCGAGGCGACGTC 0.692 NaN 0 0 0 1 0 21 60 DQX1 165545 broad.mit.edu 37 2 74749805 74749805 + Nonsense_Mutation SNP G G C rs145468372 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:74749805G>C uc010yrw.1 - 8 1562 c.1397C>G c.(1396-1398)TCA>TGA p.S466* DQX1_uc002smc.2_Nonsense_Mutation_p.S27* NM_133637 NP_598376 Q8TE96 DQX1_HUMAN DEAQ box polypeptide 1 (RNA-dependent ATPase) 466 nucleus ATP binding|helicase activity|nucleic acid binding ovary(2) 2 AGGGAATTCTGATAGTATGAC 0.557 NaN 0 0 0 1 0 34 200 LOXL3 84695 broad.mit.edu 37 2 74763222 74763222 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:74763222G>C uc002smp.1 - 7 1221 c.1149C>G c.(1147-1149)CTC>CTG p.L383L LOXL3_uc002smo.1_Silent_p.L22L|LOXL3_uc010ffm.1_Silent_p.L383L|LOXL3_uc002smq.1_Silent_p.L238L|LOXL3_uc010ffn.1_Silent_p.L238L NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 383 SRCR 3. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 GGCACTTCCAGAGGGAGAGCT 0.542 NaN 0 0 0 1 0 18 101 LRRTM1 347730 broad.mit.edu 37 2 80530006 80530006 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:80530006C>T uc002sok.1 - 2 1209 c.939G>A c.(937-939)GGG>GGA p.G313G CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 313 Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 CCCACAGGTTCCCGGCCAGGG 0.632 NaN HNSCC(69;0.2) 0 0 0 1 0 18 35 RPIA 22934 broad.mit.edu 37 2 88999546 88999546 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:88999546G>C uc002ste.2 + 3 407 c.366G>C c.(364-366)GAG>GAC p.E122D NM_144563 NP_653164 P49247 RPIA_HUMAN ribose 5-phosphate isomerase A 122 pentose-phosphate shunt, non-oxidative branch cytosol ribose-5-phosphate isomerase activity ovary(1) 1 Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287) TGAAGCAAGAGAATCTGAACC 0.453 NaN 0 0 0 1 0 11 95 VWA3B 200403 broad.mit.edu 37 2 98844712 98844712 + Missense_Mutation SNP T T G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:98844712T>G uc002syo.2 + 15 2331 c.2067T>G c.(2065-2067)AGT>AGG p.S689R VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.S208R|VWA3B_uc002sym.2_Missense_Mutation_p.S689R|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.S346R|VWA3B_uc002syp.1_Missense_Mutation_p.S81R|VWA3B_uc002syq.1_Intron|VWA3B_uc002syr.1_Missense_Mutation_p.S6R NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 689 ovary(3)|large_intestine(2)|skin(1) 6 AGGGTCACAGTGATCTGGAGA 0.418 NaN 0 0 0 1 0 20 88 IL18RAP 8807 broad.mit.edu 37 2 103068601 103068601 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:103068601C>G uc002tbx.2 + 12 2244 c.1760C>G c.(1759-1761)ACA>AGA p.T587R IL18RAP_uc010fiz.2_Missense_Mutation_p.T445R NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 587 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 CTCAGTAGAACAGAAACCACT 0.507 NaN 0 0 0 1 0 28 108 RGPD3 653489 broad.mit.edu 37 2 107040564 107040564 + Missense_Mutation SNP C C T rs55993306 by1000genomes TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:107040564C>T uc010ywi.1 - 20 3916 c.3859G>A c.(3859-3861)GAG>AAG p.E1287K NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1287 intracellular transport binding ovary(1) 1 GTTGTTGACTCATCAAAGTGG 0.408 NaN 0 0 0 1 0 10 162 PTPN4 5775 broad.mit.edu 37 2 120703971 120703971 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:120703971G>A uc002tmf.1 + 17 2341 c.1570G>A c.(1570-1572)GAA>AAA p.E524K PTPN4_uc010flj.1_Missense_Mutation_p.E237K|PTPN4_uc010yyr.1_Missense_Mutation_p.E157K NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 524 PDZ. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) GAAACCTGATGAAAATGGGAG 0.269 NaN 0 0 0 1 0 21 79 CLASP1 23332 broad.mit.edu 37 2 122145474 122145474 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:122145474C>A uc002tnc.2 - 30 3522 c.3132G>T c.(3130-3132)CAG>CAT p.Q1044H CLASP1_uc010yyv.1_Missense_Mutation_p.Q129H|CLASP1_uc002tmz.2_Missense_Mutation_p.Q129H|CLASP1_uc002tna.2_Missense_Mutation_p.Q129H|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.Q1024H|CLASP1_uc010yza.1_Missense_Mutation_p.Q1016H|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tnf.2_5'UTR NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN CLIP-associating protein 1 isoform 1 1044 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding ovary(1)|central_nervous_system(1) 2 Renal(3;0.0496) TTAGCACAATCTGTGCTGCCT 0.333 NaN 1 0 8.12818e-05 1 8.44313e-05 7 33 ERCC3 2071 broad.mit.edu 37 2 128018835 128018835 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:128018835C>T uc002toh.1 - 13 2128 c.2033G>A c.(2032-2034)AGA>AAA p.R678K ERCC3_uc002toe.1_Missense_Mutation_p.R433K|ERCC3_uc002tof.1_Missense_Mutation_p.R614K|ERCC3_uc002tog.1_Missense_Mutation_p.R614K NM_000122 NP_000113 P19447 ERCC3_HUMAN excision repair cross-complementing rodent 678 Helicase C-terminal. cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding ovary(2)|lung(2)|breast(2)|kidney(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TACCAAGAATCTCTGCCGCTT 0.463 NaN Mis|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 1 0 13 38 NCKAP5 344148 broad.mit.edu 37 2 133541789 133541789 + Silent SNP A A G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:133541789A>G uc002ttp.2 - 14 2969 c.2595T>C c.(2593-2595)ATT>ATC p.I865I NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 865 protein binding 0 AATGTTTTGGAATGTGTGGAT 0.542 NaN 0 0 0 1 0 23 84 RAB3GAP1 22930 broad.mit.edu 37 2 135908057 135908057 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:135908057C>T uc002tuj.2 + 18 2067 c.2042C>T c.(2041-2043)TCA>TTA p.S681L RAB3GAP1_uc010fnf.2_Missense_Mutation_p.S681L|RAB3GAP1_uc010fng.2_Missense_Mutation_p.S506L|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 681 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) TGTCTGCTCTCAGATATGGAG 0.468 NaN 0 0 0 1 0 4 42 NR4A2 4929 broad.mit.edu 37 2 157186448 157186448 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:157186448G>A uc002tyz.3 - 3 673 c.251C>T c.(250-252)TCC>TTC p.S84F NR4A2_uc002tyx.3_Missense_Mutation_p.S21F|NR4A2_uc010zcf.1_Missense_Mutation_p.S84F|NR4A2_uc010zcg.1_5'Flank NM_006186 NP_006177 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 84 Gln-rich. cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 CTGCTGTCCGGACAGGGGCAT 0.542 NaN 0 0 0 1 0 17 82 TANC1 85461 broad.mit.edu 37 2 160042372 160042372 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:160042372G>C uc002uag.2 + 15 2855 c.2581G>C c.(2581-2583)GAG>CAG p.E861Q TANC1_uc010zcm.1_Missense_Mutation_p.E853Q|TANC1_uc010fom.1_Missense_Mutation_p.E667Q NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 861 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 GCAGACCATGGAGCTTGGCCA 0.522 NaN 0 0 0 1 0 7 23 SCN1A 6323 broad.mit.edu 37 2 166908450 166908450 + Nonsense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:166908450G>C uc010zcz.1 - 6 761 c.743C>G c.(742-744)TCA>TGA p.S248* SCN1A_uc002udo.3_Nonsense_Mutation_p.S117*|SCN1A_uc010fpk.2_Nonsense_Mutation_p.S117* NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 248 I. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CATTACATCTGAGAGCTTCTT 0.423 NaN 0 0 0 1 0 17 76 METTL5 29081 broad.mit.edu 37 2 170669018 170669018 + Splice_Site SNP T T C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:170669018T>C uc002ufn.2 - 6 788 c.542_splice c.e6-1 p.E181_splice METTL5_uc002ufo.2_Splice_Site_p.E181_splice|METTL5_uc002ufp.2_Splice_Site_p.E181_splice|METTL5_uc002ufq.1_Intron NM_014168 NP_054887 Q9NRN9 METL5_HUMAN methyltransferase like 5 methyltransferase activity|nucleic acid binding central_nervous_system(1) 1 ATCGAAGTTCTGTAAAACAAA 0.358 NaN 0 0 0 1 0 34 64 HAT1 8520 broad.mit.edu 37 2 172822425 172822425 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:172822425C>G uc002uhi.2 + 6 683 c.607C>G c.(607-609)CTA>GTA p.L203V HAT1_uc010fqi.2_Missense_Mutation_p.L38V|HAT1_uc002uhj.2_Missense_Mutation_p.L118V NM_003642 NP_003633 O14929 HAT1_HUMAN histone acetyltransferase 1 203 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.216) GCACTACTTTCTAGTGTAAGT 0.378 NaN 0 0 0 1 0 20 115 HAT1 8520 broad.mit.edu 37 2 172841129 172841129 + Missense_Mutation SNP G G A rs140409528 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:172841129G>A uc002uhi.2 + 9 933 c.857G>A c.(856-858)CGA>CAA p.R286Q HAT1_uc010fqi.2_Missense_Mutation_p.R121Q|HAT1_uc002uhj.2_Missense_Mutation_p.R201Q NM_003642 NP_003633 O14929 HAT1_HUMAN histone acetyltransferase 1 286 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.216) GTGAAATTACGAGACTTTGTG 0.353 NaN 0 0 0 1 0 20 40 OSBPL6 114880 broad.mit.edu 37 2 179197760 179197760 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:179197760G>A uc002ulx.2 + 8 1027 c.649G>A c.(649-651)GAT>AAT p.D217N OSBPL6_uc002ulw.2_Missense_Mutation_p.D217N|OSBPL6_uc002uly.2_Missense_Mutation_p.D217N|OSBPL6_uc010zfe.1_Missense_Mutation_p.D217N|OSBPL6_uc002ulz.2_Missense_Mutation_p.D217N|OSBPL6_uc002uma.2_Missense_Mutation_p.D196N NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 217 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) TTCTGTAATGGATGGAAAGGT 0.299 NaN 0 0 0 1 0 10 59 TTN 7273 broad.mit.edu 37 2 179603040 179603040 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:179603040C>T uc010zfg.1 - 46 10632 c.10408G>A c.(10408-10410)GGC>AGC p.G3470S TTN_uc010zfh.1_Missense_Mutation_p.G4543S|TTN_uc010zfi.1_Missense_Mutation_p.G4476S|TTN_uc010zfj.1_Missense_Mutation_p.G4351S|TTN_uc002umz.1_Missense_Mutation_p.G131S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4397 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTAGGTGGCCCAGTGCTACT 0.483 NaN 0 0 0 1 0 7 26 TTN 7273 broad.mit.edu 37 2 179605533 179605533 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:179605533G>T uc010zfh.1 - 46 12138 c.11914C>A c.(11914-11916)CTC>ATC p.L3972I TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.L3905I|TTN_uc010zfj.1_Missense_Mutation_p.L3780I|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTTCCTTGAGAGGCTGAAAG 0.473 NaN 1 0 1.55811e-20 1 1.78963e-20 30 119 DNAJC10 54431 broad.mit.edu 37 2 183582961 183582961 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:183582961G>A uc002uow.1 + 3 563 c.148G>A c.(148-150)GAA>AAA p.E50K DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.E50K|DNAJC10_uc010fro.1_RNA NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 50 J. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding ovary(1)|large_intestine(1)|breast(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) AAGCAGTAGAGAAATAAGACA 0.338 NaN 0 0 0 1 0 18 69 NCKAP1 10787 broad.mit.edu 37 2 183860508 183860508 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:183860508G>C uc002upc.2 - 7 1064 c.662C>G c.(661-663)GCT>GGT p.A221G NCKAP1_uc002upb.2_Missense_Mutation_p.A227G NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 221 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) CCACTGGTCAGCTGAAAGATT 0.368 NaN 0 0 0 1 0 12 69 SLC40A1 30061 broad.mit.edu 37 2 190428686 190428686 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:190428686G>A uc002uqp.3 - 7 1377 c.1026C>T c.(1024-1026)CTC>CTT p.L342L NM_014585 NP_055400 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated 342 Helical; (Potential). anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) TCAAAATACTGAGGATGGAAC 0.478 NaN 0 0 0 1 0 7 48 TMEFF2 23671 broad.mit.edu 37 2 193049159 193049159 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:193049159C>T uc002utc.2 - 3 727 c.333G>A c.(331-333)CAG>CAA p.Q111Q TMEFF2_uc002utd.1_Silent_p.Q111Q NM_016192 NP_057276 Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two 111 Kazal-like 1.|Extracellular (Potential). extracellular region|integral to membrane lung(2)|pancreas(1)|breast(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.0835) AACACTCATTCTGGTAGCTCT 0.473 NaN 0 0 0 1 0 14 54 DNAH7 56171 broad.mit.edu 37 2 196834710 196834710 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:196834710G>C uc002utj.3 - 17 2268 c.2167C>G c.(2167-2169)CAA>GAA p.Q723E NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 723 Stem (By similarity).|Potential. ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TTCAGTATTTGAGCCTTTTTT 0.328 NaN 0 0 0 1 0 7 57 STK17B 9262 broad.mit.edu 37 2 197004437 197004437 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:197004437G>C uc002utk.2 - 7 1067 c.743C>G c.(742-744)TCT>TGT p.S248C STK17B_uc010fsh.2_Missense_Mutation_p.S248C NM_004226 NP_004217 O94768 ST17B_HUMAN serine/threonine kinase 17B 248 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity lung(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.141) ATTAACTTGAGAAATATTGAG 0.333 NaN 0 0 0 1 0 46 74 ANKRD44 91526 broad.mit.edu 37 2 197865158 197865158 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:197865158C>G uc002uua.1 - 23 2506 c.2429G>C c.(2428-2430)AGA>ACA p.R810T ANKRD44_uc002utz.3_Missense_Mutation_p.R542T NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 835 protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) TTTGTCATCTCTACAACTGAC 0.378 NaN 0 0 0 1 0 7 51 SF3B1 23451 broad.mit.edu 37 2 198257807 198257807 + Silent SNP T T C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:198257807T>C uc002uue.2 - 24 3693 c.3645A>G c.(3643-3645)GTA>GTG p.V1215V NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 1215 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) CATTGGGCCATACATAGTTCA 0.448 NaN 0 0 0 1 0 21 54 SF3B1 23451 broad.mit.edu 37 2 198274635 198274635 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:198274635C>T uc002uue.2 - 7 811 c.763G>A c.(763-765)GAT>AAT p.D255N NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 255 Interaction with PPP1R8. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) GGTGTAGGATCCCATATTTTT 0.572 NaN 0 0 0 1 0 26 130 HSPD1 3329 broad.mit.edu 37 2 198358196 198358196 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:198358196C>A uc002uui.2 - 7 858 c.721G>T c.(721-723)GAT>TAT p.D241Y HSPD1_uc002uuj.2_Missense_Mutation_p.D239Y|HSPD1_uc010zgx.1_Missense_Mutation_p.D232Y|HSPD1_uc010fsm.2_Missense_Mutation_p.D52Y|HSPD1_uc002uuk.2_Missense_Mutation_p.D241Y NM_002156 NP_002147 P10809 CH60_HUMAN chaperonin 241 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding 0 Epithelial(96;0.225) ACATAGGCATCCTGGAATTCA 0.343 NaN 1 0 5.01169e-05 1 5.22743e-05 17 50 NIF3L1 60491 broad.mit.edu 37 2 201761901 201761901 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:201761901C>G uc002uwm.2 + 5 920 c.829C>G c.(829-831)CAT>GAT p.H277D NIF3L1_uc002uwl.2_Missense_Mutation_p.H250D|NIF3L1_uc002uwn.2_Missense_Mutation_p.H250D|NIF3L1_uc002uwo.2_Missense_Mutation_p.H277D|NIF3L1_uc002uwp.2_Missense_Mutation_p.H277D|NIF3L1_uc002uwq.2_Intron NM_001136039 NP_001129511 Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 isoform 1 277 positive regulation of transcription, DNA-dependent transcription factor binding skin(1) 1 AAAACTATCTCATATTCGCTT 0.423 NaN 0 0 0 1 0 27 104 ALS2CR12 130540 broad.mit.edu 37 2 202154187 202154187 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:202154187G>A uc010ftg.2 - 14 1648 c.1204C>T c.(1204-1206)CAT>TAT p.H402Y ALS2CR12_uc002uya.3_Missense_Mutation_p.H379Y|ALS2CR12_uc010fth.2_RNA NM_139163 NP_631902 Q96Q35 AL2SB_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 402 Potential. regulation of GTPase activity protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 CACTTCAGATGAATGTTCTCT 0.433 NaN 0 0 0 1 0 21 67 CDK15 65061 broad.mit.edu 37 2 202700471 202700471 + Missense_Mutation SNP C C G rs61383268 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:202700471C>G uc002uyt.2 + 8 885 c.836C>G c.(835-837)TCT>TGT p.S279C CDK15_uc010ftm.2_Missense_Mutation_p.S144C|CDK15_uc002uys.2_Missense_Mutation_p.S228C|CDK15_uc010ftn.1_Missense_Mutation_p.S228C|CDK15_uc010fto.1_Missense_Mutation_p.S258C NM_139158 NP_631897 Q96Q40 CDK15_HUMAN PFTAIRE protein kinase 2 279 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(2)|ovary(1)|lung(1)|kidney(1) 5 Adenosine triphosphate(DB00171) GAATATTCCTCTGAGCTGGAC 0.468 NaN 0 0 0 1 0 17 47 ALS2CR8 79800 broad.mit.edu 37 2 203831746 203831746 + Missense_Mutation SNP A A G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:203831746A>G uc002uzo.2 + 9 1158 c.878A>G c.(877-879)AAA>AGA p.K293R ALS2CR8_uc010zhy.1_3'UTR|ALS2CR8_uc010zhz.1_RNA|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.K217R|ALS2CR8_uc010zib.1_Missense_Mutation_p.K217R|ALS2CR8_uc010zic.1_Missense_Mutation_p.K205R|ALS2CR8_uc002uzp.2_Missense_Mutation_p.K293R NM_001104586 NP_001098056 Q8N187 AL2S8_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 293 large_intestine(1)|ovary(1) 2 CCAAGAAGAAAAGGTTTCCAG 0.408 NaN 0 0 0 1 0 23 122 ZDBF2 57683 broad.mit.edu 37 2 207169584 207169584 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:207169584C>T uc002vbp.2 + 5 582 c.332C>T c.(331-333)TCA>TTA p.S111L NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 111 nucleic acid binding|zinc ion binding ovary(3) 3 TCCGAGGTTTCAGAACCTATT 0.448 NaN 0 0 0 1 0 19 28 ARPC2 10109 broad.mit.edu 37 2 219114628 219114628 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:219114628G>C uc002vhd.2 + 10 974 c.862G>C c.(862-864)GAA>CAA p.E288Q ARPC2_uc002vhe.2_Missense_Mutation_p.E288Q|ARPC2_uc002vhf.2_Missense_Mutation_p.E174Q NM_152862 NP_690601 O15144 ARPC2_HUMAN actin related protein 2/3 complex subunit 2 288 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton ovary(1) 1 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) CGAGAAAAAAGAAATGAAAAC 0.542 NaN 0 0 0 1 0 4 15 DOCK10 55619 broad.mit.edu 37 2 225652012 225652012 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:225652012C>G uc010fwz.1 - 49 5760 c.5521G>C c.(5521-5523)GAG>CAG p.E1841Q DOCK10_uc002vob.2_Missense_Mutation_p.E1835Q|DOCK10_uc002voa.2_Missense_Mutation_p.E497Q|DOCK10_uc002voc.2_Missense_Mutation_p.E662Q NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1841 DHR-2. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CGTTGTTTCTCAAAGACAGCA 0.368 NaN 0 0 0 1 0 20 110 IRS1 3667 broad.mit.edu 37 2 227661897 227661897 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:227661897G>A uc002voh.3 - 1 1610 c.1558C>T c.(1558-1560)CGG>TGG p.R520W NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 520 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TTTCGGAACCGATTATCCAGA 0.592 NaN OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 12 65 MFF 56947 broad.mit.edu 37 2 228220436 228220436 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:228220436G>C uc002vos.2 + 10 1274 c.856G>C c.(856-858)GAT>CAT p.D286H MFF_uc002vot.2_Missense_Mutation_p.D235H|MFF_uc002vou.2_Missense_Mutation_p.D208H|MFF_uc002vov.2_Missense_Mutation_p.D182H|MFF_uc002vow.2_Missense_Mutation_p.D187H|MFF_uc002vox.2_Missense_Mutation_p.D162H|MFF_uc002voy.2_Missense_Mutation_p.D286H|MFF_uc002voz.2_Missense_Mutation_p.D162H|MFF_uc002vpa.2_Missense_Mutation_p.D74H NM_020194 NP_064579 Q9GZY8 MFF_HUMAN mitochondrial fission factor 286 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane large_intestine(1) 1 AGGAACGTCAGATGACCTGAC 0.323 NaN 0 0 0 1 0 65 104 TRIP12 9320 broad.mit.edu 37 2 230723948 230723948 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:230723948C>A uc002vpw.1 - 3 550 c.441G>T c.(439-441)CAG>CAT p.Q147H TRIP12_uc002vpx.1_Missense_Mutation_p.Q189H|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.Q147H NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 147 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TTTTTCTTTTCTGACTCCGTG 0.488 NaN 1 0 4.22769e-11 1 4.7099e-11 27 97 ARMC9 80210 broad.mit.edu 37 2 232146826 232146826 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:232146826C>T uc002vrq.3 + 17 1718 c.1606C>T c.(1606-1608)CGT>TGT p.R536C ARMC9_uc002vrp.3_Missense_Mutation_p.R536C|ARMC9_uc002vrr.1_RNA NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 536 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) TCCATCCATTCGTGAGGAAGC 0.428 NaN 0 0 0 1 0 23 76 CHRND 1144 broad.mit.edu 37 2 233398643 233398643 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:233398643C>G uc002vsw.2 + 10 1054 c.1050C>G c.(1048-1050)CTC>CTG p.L350L CHRND_uc010zmg.1_Silent_p.L335L|CHRND_uc010fyc.2_Silent_p.L223L|CHRND_uc010zmh.1_Silent_p.L156L NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 350 Cytoplasmic (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GGCCCCAGCTCTTCCTGGAGA 0.453 NaN 0 0 0 1 0 17 66 CHRND 1144 broad.mit.edu 37 2 233399028 233399028 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:233399028G>A uc002vsw.2 + 11 1351 c.1347G>A c.(1345-1347)ATG>ATA p.M449I CHRND_uc010zmg.1_Missense_Mutation_p.M434I|CHRND_uc010fyc.2_Missense_Mutation_p.M322I|CHRND_uc010zmh.1_Missense_Mutation_p.M255I NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 449 Cytoplasmic (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) TTAACCACATGAGGGACCAGA 0.502 NaN 0 0 0 1 0 12 39 INPP5D 3635 broad.mit.edu 37 2 233986856 233986856 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:233986856G>A uc010zmo.1 + 3 391 c.238G>A c.(238-240)GAC>AAC p.D80N INPP5D_uc010zmp.1_Missense_Mutation_p.D80N NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 80 SH2. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CACCAAGCTGGACCAGCTCAT 0.522 NaN 0 0 0 1 0 12 81 COL6A3 1293 broad.mit.edu 37 2 238280791 238280791 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:238280791G>C uc002vwl.2 - 9 4154 c.3869C>G c.(3868-3870)TCC>TGC p.S1290C COL6A3_uc002vwo.2_Missense_Mutation_p.S1084C|COL6A3_uc010znj.1_Missense_Mutation_p.S683C|COL6A3_uc002vwq.2_Missense_Mutation_p.S1084C|COL6A3_uc002vwr.2_Missense_Mutation_p.S883C NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1290 VWFA 7.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ATCCTTGCTGGAATGGGCGTT 0.607 NaN 0 0 0 1 0 15 30 NDUFA10 4705 broad.mit.edu 37 2 240958025 240958025 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:240958025G>A uc002vyn.2 - 4 572 c.492C>T c.(490-492)TTC>TTT p.F164F NDUFA10_uc010fzc.1_Silent_p.F164F|NDUFA10_uc002vyo.1_Silent_p.F164F|NDUFA10_uc002vyp.2_Silent_p.F164F NM_004544 NP_004535 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 164 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1) 1 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) CAAAGTCACTGAAGATGGAGC 0.473 NaN 0 0 0 1 0 5 39 ANO7 50636 broad.mit.edu 37 2 242157737 242157737 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:242157737C>T uc002wax.2 + 21 2527 c.2424C>T c.(2422-2424)CTC>CTT p.L808L NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 808 Extracellular (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 GCGGCTTCCTCAACTTCACGC 0.741 NaN 0 0 0 1 0 3 4 HDLBP 3069 broad.mit.edu 37 2 242176173 242176173 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:242176173C>G uc002waz.2 - 21 2989 c.2761G>C c.(2761-2763)GAG>CAG p.E921Q HDLBP_uc002wba.2_Missense_Mutation_p.E921Q|HDLBP_uc002wbb.2_Missense_Mutation_p.E873Q NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 921 KH 11. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) ACAACTGGCTCTGTACTGTGA 0.527 NaN 0 0 0 1 0 26 51 C2orf85 285093 broad.mit.edu 37 2 242815144 242815144 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr2:242815144C>T uc010fzu.1 + 2 1460 c.1437C>T c.(1435-1437)TTC>TTT p.F479F NM_173821 NP_776182 Q14D33 CB085_HUMAN hypothetical protein LOC285093 479 integral to membrane ovary(1) 1 TCGCAGTCTTCGATGTCATAA 0.632 NaN 0 0 0 1 0 15 73 JAG1 182 broad.mit.edu 37 20 10653409 10653409 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:10653409G>A uc002wnw.2 - 2 843 c.327C>T c.(325-327)CTC>CTT p.L109L NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 109 Extracellular (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 GGCTGGCCTTGAGGTTGAAGG 0.662 NaN Alagille_Syndrome 0 0 0 1 0 11 20 RBBP9 10741 broad.mit.edu 37 20 18477724 18477724 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:18477724C>T uc002wqy.2 - 1 164 c.88G>A c.(88-90)GAG>AAG p.E30K NM_006606 NP_006597 O75884 RBBP9_HUMAN retinoblastoma binding protein 9 30 cytoplasm|nucleus hydrolase activity haematopoietic_and_lymphoid_tissue(1) 1 TTCTCCAGCTCCTTTTTCACC 0.612 NaN 0 0 0 1 0 4 32 C20orf26 26074 broad.mit.edu 37 20 20177348 20177348 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:20177348G>T uc002wru.2 + 16 1801 c.1725G>T c.(1723-1725)CTG>CTT p.L575L C20orf26_uc010zse.1_Silent_p.L555L NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 575 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) AGTTCTTTCTGAAGGAGATCC 0.468 NaN 1 0 2.79863e-10 1 3.10412e-10 27 47 ASXL1 171023 broad.mit.edu 37 20 31021535 31021535 + Nonsense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:31021535C>T uc002wxs.2 + 11 1960 c.1534C>T c.(1534-1536)CAG>TAG p.Q512* ASXL1_uc010geb.2_Nonsense_Mutation_p.Q403* NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 512 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 TAGCCTGCCTCAGGAAACTGT 0.547 NaN F|N|Mis MDS|CMML 0 0 0 1 0 34 167 ASXL1 171023 broad.mit.edu 37 20 31023784 31023784 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:31023784G>C uc002wxs.2 + 12 3695 c.3269G>C c.(3268-3270)AGA>ACA p.R1090T ASXL1_uc010geb.2_Missense_Mutation_p.R981T NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 1090 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 TACCAGCCAAGAGCCGTGTGC 0.572 NaN F|N|Mis MDS|CMML 0 0 0 1 0 20 73 GSS 2937 broad.mit.edu 37 20 33530781 33530781 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:33530781G>A uc002xbg.2 - 4 384 c.304C>T c.(304-306)CGT>TGT p.R102C GSS_uc010zun.1_5'UTR|GSS_uc010zuo.1_Intron|GSS_uc010zup.1_Missense_Mutation_p.R33C|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_5'UTR NM_000178 NP_000169 P48637 GSHB_HUMAN glutathione synthetase 102 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) TCAAAGAGACGAGCGGTAAAG 0.478 NaN 0 0 0 1 0 5 9 KIAA0406 9675 broad.mit.edu 37 20 36634718 36634718 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:36634718C>G uc002xhl.2 - 4 2593 c.2384G>C c.(2383-2385)AGA>ACA p.R795T KIAA0406_uc002xhm.2_Missense_Mutation_p.R795T NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 795 binding 0 Myeloproliferative disorder(115;0.00874) AGCTGCTGGTCTTTGGTTCAA 0.463 NaN 0 0 0 1 0 52 73 ZHX3 23051 broad.mit.edu 37 20 39832521 39832521 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:39832521C>A uc002xjs.1 - 3 1414 c.1036G>T c.(1036-1038)GAA>TAA p.E346* ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Nonsense_Mutation_p.E346*|ZHX3_uc002xjt.1_Nonsense_Mutation_p.E346*|ZHX3_uc002xju.1_Nonsense_Mutation_p.E346*|ZHX3_uc002xjv.1_Nonsense_Mutation_p.E346*|ZHX3_uc002xjw.1_Nonsense_Mutation_p.E346*|ZHX3_uc010ggg.1_Nonsense_Mutation_p.E346* NM_015035 NP_055850 Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 346 Homeobox 1.|Required for homodimerization and interaction with NFYA.|Required for repressor activity. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Myeloproliferative disorder(115;0.00425) TTGAGCTGTTCTTCTGGATAC 0.507 NaN 1 0 3.08376e-08 1 3.34384e-08 25 42 EMILIN3 90187 broad.mit.edu 37 20 39990162 39990162 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:39990162G>C uc002xjy.1 - 4 2271 c.2047C>G c.(2047-2049)CAG>GAG p.Q683E NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 683 proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) ACTGTGTGCTGAAGTTTCTGG 0.657 NaN 0 0 0 1 0 5 24 PLTP 5360 broad.mit.edu 37 20 44538206 44538206 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:44538206G>A uc002xqn.1 - 5 514 c.434C>T c.(433-435)TCC>TTC p.S145F PLTP_uc002xql.1_Missense_Mutation_p.S57F|PLTP_uc002xqm.1_Missense_Mutation_p.S165F|PLTP_uc002xqo.1_Intron|PLTP_uc002xqp.1_Missense_Mutation_p.S145F|PLTP_uc002xqq.1_Missense_Mutation_p.S114F|PLTP_uc010zxj.1_Intron|PLTP_uc010ghj.1_Missense_Mutation_p.S145F NM_006227 NP_006218 P55058 PLTP_HUMAN phospholipid transfer protein isoform a 145 cellular lipid metabolic process|lipid transport extracellular region lipid binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) GGCCTGGCAGGAGACATTGGA 0.622 NaN 0 0 0 1 0 17 130 PCIF1 63935 broad.mit.edu 37 20 44567904 44567904 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:44567904C>T uc002xqs.2 + 4 489 c.175C>T c.(175-177)CGT>TGT p.R59C NM_022104 NP_071387 Q9H4Z3 PCIF1_HUMAN phosphorylated CTD interacting factor 1 59 WW. nucleus skin(1) 1 GAGGGAGAATCGTCCCTACTA 0.632 NaN 0 0 0 1 0 16 91 ZNF335 63925 broad.mit.edu 37 20 44578480 44578480 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:44578480C>T uc002xqw.2 - 24 3751 c.3628G>A c.(3628-3630)GAT>AAT p.D1210N ZNF335_uc002xqv.2_Missense_Mutation_p.D322N|ZNF335_uc010zxk.1_Missense_Mutation_p.D1055N NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1210 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) GTCTGGCCATCTGCCGTGGTG 0.582 NaN 0 0 0 1 0 16 99 SLC13A3 64849 broad.mit.edu 37 20 45192108 45192108 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:45192108G>T uc002xsf.1 - 12 1615 c.1577C>A c.(1576-1578)TCA>TAA p.S526* SLC13A3_uc010ghn.1_Nonsense_Mutation_p.S495*|SLC13A3_uc010zxw.1_Nonsense_Mutation_p.S476*|SLC13A3_uc002xsg.1_Nonsense_Mutation_p.S479*|SLC13A3_uc010gho.1_Nonsense_Mutation_p.S444*|SLC13A3_uc010zxx.1_Nonsense_Mutation_p.S428*|SLC13A3_uc002xse.1_Nonsense_Mutation_p.S17*|SLC13A3_uc010ghm.1_Nonsense_Mutation_p.S113*|SLC13A3_uc010zxv.1_Nonsense_Mutation_p.S111* NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN solute carrier family 13 member 3 isoform a 526 Helical; (Potential). integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) GGGGGGCGTTGAGACCGGGAG 0.617 NaN 1 0 1.5842e-08 1 1.72077e-08 13 23 NCOA3 8202 broad.mit.edu 37 20 46267858 46267858 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:46267858C>G uc002xtk.2 + 14 2824 c.2619C>G c.(2617-2619)ATC>ATG p.I873M NCOA3_uc010ght.1_Missense_Mutation_p.I883M|NCOA3_uc002xtl.2_Missense_Mutation_p.I873M|NCOA3_uc002xtm.2_Missense_Mutation_p.I873M|NCOA3_uc002xtn.2_Missense_Mutation_p.I873M|NCOA3_uc010zyc.1_Missense_Mutation_p.I668M NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 873 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 TAAAAAATATCAGTGCTTTCC 0.438 NaN 0 0 0 1 0 22 69 DDX27 55661 broad.mit.edu 37 20 47859135 47859135 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:47859135G>C uc002xuh.2 + 19 2275 c.2214G>C c.(2212-2214)AAG>AAC p.K738N NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 738 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding kidney(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCACAGCCAAGAAGCAAAAGC 0.433 NaN 0 0 0 1 0 21 125 ZNFX1 57169 broad.mit.edu 37 20 47888002 47888002 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:47888002C>G uc002xui.2 - 3 594 c.347G>C c.(346-348)AGA>ACA p.R116T NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 116 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CCATGGTGGTCTGCGGTTCCT 0.547 NaN 0 0 0 1 0 60 243 TMEM189-UBE2V1 387522 broad.mit.edu 37 20 48699389 48699389 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:48699389G>A uc002xvf.2 - 8 1190 c.1029C>T c.(1027-1029)GTC>GTT p.V343V UBE2V1_uc002xvb.2_RNA|UBE2V1_uc002xva.2_Silent_p.V120V|UBE2V1_uc002xvc.2_Silent_p.V76V|UBE2V1_uc002xvd.2_Silent_p.V143V|UBE2V1_uc002xve.2_Silent_p.V143V NM_199203 NP_954673 Q13404 UB2V1_HUMAN TMEM189-UBE2V1 readthrough transcript 120 cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein K63-linked ubiquitination|regulation of DNA repair|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus|UBC13-UEV1A complex|ubiquitin ligase complex acid-amino acid ligase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(9;8.29e-07) GCTCTTGCAGGACAACTTTGA 0.418 NaN 0 0 0 1 0 18 73 MC3R 4159 broad.mit.edu 37 20 54824451 54824451 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:54824451G>C uc002xxb.2 + 1 664 c.552G>C c.(550-552)GAG>GAC p.E184D NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 221 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) TCTACTCGGAGAGCAAAATGG 0.572 NaN 0 0 0 1 0 11 91 GNAS 2778 broad.mit.edu 37 20 57484238 57484238 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:57484238G>A uc002xzw.2 + 7 2766 c.2481G>A c.(2479-2481)GTG>GTA p.V827V GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Silent_p.V125V|GNAS_uc002xzx.2_Silent_p.V125V|GNAS_uc010gjr.2_Silent_p.V75V|GNAS_uc002xzy.2_Silent_p.V110V|GNAS_uc002yaa.2_Silent_p.V170V|GNAS_uc010zzt.1_Silent_p.V185V|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Silent_p.V75V|GNAS_uc002yae.2_Silent_p.V109V NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas 184 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) AGATCGACGTGATCAAGCAGG 0.507 NaN Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 0 0 0 1 0 58 249 TAF4 6874 broad.mit.edu 37 20 60575275 60575275 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:60575275C>A uc002ybs.2 - 11 2692 c.2692G>T c.(2692-2694)GTA>TTA p.V898L NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 898 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TAACTTACTACATCTGGATGT 0.348 NaN 1 0 6.42651e-13 1 7.25574e-13 11 95 DIDO1 11083 broad.mit.edu 37 20 61512984 61512984 + Missense_Mutation SNP C C G rs142722598 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:61512984C>G uc002ydr.1 - 16 4588 c.4324G>C c.(4324-4326)GAT>CAT p.D1442H DIDO1_uc002yds.1_Missense_Mutation_p.D1442H NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1442 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) GGCAGGTCATCAACAGTCACT 0.627 NaN 0 0 0 1 0 46 92 COL20A1 57642 broad.mit.edu 37 20 61936863 61936863 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:61936863C>T uc011aau.1 + 4 388 c.288C>T c.(286-288)TTC>TTT p.F96F COL20A1_uc011aav.1_5'Flank NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 96 Fibronectin type-III 1. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) TGCAGATCTTCGAGCTCACTG 0.627 NaN 0 0 0 1 0 7 7 PRIC285 85441 broad.mit.edu 37 20 62200734 62200734 + Silent SNP G G A rs147054984 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:62200734G>A uc002yfm.2 - 5 1747 c.855C>T c.(853-855)CTC>CTT p.L285L PRIC285_uc002yfl.1_5'Flank NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 285 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) CAGGGTGGCCGAGCGCCAGAT 0.692 NaN 0 0 0 1 0 5 14 TCEA2 6919 broad.mit.edu 37 20 62701842 62701842 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr20:62701842G>C uc011abs.1 + 8 1329 c.673G>C c.(673-675)GAG>CAG p.E225Q TCEA2_uc011abr.1_Missense_Mutation_p.E198Q|TCEA2_uc010gks.2_Missense_Mutation_p.E226Q NM_003195 NP_003186 Q15560 TCEA2_HUMAN transcription elongation factor A protein 2 225 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding 0 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) CGTGCTCCAGGAGATGGCCAG 0.642 NaN 0 0 0 1 0 18 31 SOD1 6647 broad.mit.edu 37 21 33039654 33039654 + Nonsense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr21:33039654C>G uc002ypa.2 + 4 471 c.323C>G c.(322-324)TCA>TGA p.S108* SOD1_uc002ypb.2_Nonsense_Mutation_p.S89*|SOD1_uc002ypc.2_RNA NM_000454 NP_000445 P00441 SODC_HUMAN superoxide dismutase 1, soluble 108 activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding 0 ATCTCACTCTCAGGAGACCAT 0.403 NaN 0 0 0 1 0 9 81 DSCAM 1826 broad.mit.edu 37 21 41496164 41496164 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr21:41496164G>A uc002yyq.1 - 20 4106 c.3654C>T c.(3652-3654)ATC>ATT p.I1218I DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1218 Fibronectin type-III 4.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ACTTTCGGATGATGCCGTTCA 0.572 NaN 0 0 0 1 0 34 110 RRP1B 23076 broad.mit.edu 37 21 45107624 45107624 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr21:45107624G>T uc002zdk.2 + 13 1483 c.1369G>T c.(1369-1371)GAG>TAG p.E457* RRP1B_uc002zdl.2_5'UTR NM_015056 NP_055871 Q14684 RRP1B_HUMAN ribosomal RNA processing 1 homolog B 457 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding skin(1) 1 STAD - Stomach adenocarcinoma(101;0.178) CACTGGGGAGGAGAGTGGCTC 0.637 NaN 1 0 3.41278e-10 1 3.78198e-10 18 41 ADARB1 104 broad.mit.edu 37 21 46603308 46603308 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr21:46603308C>G uc002zgy.2 + 7 1714 c.1279C>G c.(1279-1281)CAG>GAG p.Q427E ADARB1_uc002zgr.2_Missense_Mutation_p.Q427E|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.Q427E|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.Q427E|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA NM_015833 NP_056648 P78563 RED1_HUMAN RNA-specific adenosine deaminase B1 isoform 2 427 A to I editase. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding skin(1) 1 Colorectal(79;0.115) ATCCATCTTTCAGAAATCAGA 0.378 NaN 0 0 0 1 0 5 33 MCM3AP 8888 broad.mit.edu 37 21 47663416 47663416 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr21:47663416C>T uc002zir.1 - 24 5295 c.5259G>A c.(5257-5259)CTG>CTA p.L1753L MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Silent_p.L248L|MCM3AP_uc002zip.1_Silent_p.L494L|MCM3AP_uc002ziq.1_Silent_p.L680L|MCM3APAS_uc002zis.1_Intron NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 1753 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) TCCAGTCTCTCAGCTTGTGGT 0.552 NaN 0 0 0 1 0 31 153 CDC45 8318 broad.mit.edu 37 22 19506422 19506422 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:19506422C>A uc002zpr.2 + 18 1768 c.1692C>A c.(1690-1692)CTC>CTA p.L564L CDC45_uc011aha.1_Silent_p.L596L|CDC45_uc002zps.2_Silent_p.L565L|CDC45_uc002zpt.2_Silent_p.L518L NM_003504 NP_003495 O75419 CDC45_HUMAN CDC45-like 564 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding lung(1) 1 TTATTTCCCTCCTGTCCTAGG 0.557 NaN 1 0 1.55469e-16 1 1.77277e-16 22 66 SEPT5 5413 broad.mit.edu 37 22 19709228 19709228 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:19709228G>T uc002zpv.1 + 9 908 c.783G>T c.(781-783)CGG>CGT p.R261R SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'UTR|SEPT5_uc002zpz.1_5'Flank NM_002688 NP_002679 Q99719 SEPT5_HUMAN septin 5 261 cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting plasma membrane|septin complex|synaptic vesicle GTP binding|GTPase activity|protein binding|structural molecule activity lung(1) 1 Colorectal(54;0.0993) AGCGGGTCCGGGGCCGACTGT 0.682 NaN 1 0 4.7546e-09 1 5.20035e-09 16 40 C22orf29 79680 broad.mit.edu 37 22 19839388 19839388 + Nonsense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:19839388G>A uc002zqg.2 - 2 996 c.397C>T c.(397-399)CAG>TAG p.Q133* GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Nonsense_Mutation_p.Q133*|C22orf29_uc002zqi.2_Nonsense_Mutation_p.Q133*|C22orf29_uc010grt.1_Intron NM_024627 NP_078903 Q7L3V2 CV029_HUMAN hypothetical protein LOC79680 133 0 Colorectal(54;0.0993) ATGTTGTCCTGATAGTGCTCA 0.622 NaN 0 0 0 1 0 18 88 GGT1 2678 broad.mit.edu 37 22 25016336 25016336 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:25016336G>T uc003aan.1 + 8 911 c.424G>T c.(424-426)GAG>TAG p.E142* GGT1_uc003aas.1_Nonsense_Mutation_p.E142*|GGT1_uc003aat.1_Nonsense_Mutation_p.E142*|GGT1_uc003aau.1_Nonsense_Mutation_p.E142*|GGT1_uc003aav.1_Nonsense_Mutation_p.E142*|GGT1_uc003aaw.1_Nonsense_Mutation_p.E142*|GGT1_uc003aax.1_Nonsense_Mutation_p.E142* NM_013430 NP_038347 P19440 GGT1_HUMAN gamma-glutamyltransferase 1 precursor 142 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding 0 Glutathione(DB00143) CCGAGGCTATGAGCTGGCACA 0.687 NaN 1 0 0.000602214 1 0.000619927 5 26 SGSM1 129049 broad.mit.edu 37 22 25297899 25297899 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:25297899G>A uc003abg.2 + 21 3032 c.2875G>A c.(2875-2877)GAG>AAG p.E959K SGSM1_uc003abh.2_Missense_Mutation_p.E898K|SGSM1_uc010guu.1_Missense_Mutation_p.E904K|SGSM1_uc003abj.2_Missense_Mutation_p.E843K|SGSM1_uc003abi.1_Missense_Mutation_p.E879K NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN RUN and TBC1 domain containing 2 isoform 1 959 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1) 5 CGCCAACTTGGAGAAGCTGCG 0.622 NaN 0 0 0 1 0 9 4 SF3A1 10291 broad.mit.edu 37 22 30733035 30733035 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:30733035C>A uc003ahl.2 - 13 2218 c.2086G>T c.(2086-2088)GAG>TAG p.E696* NM_005877 NP_005868 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa isoform 1 696 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding ovary(3)|large_intestine(1)|pancreas(1) 5 CGCAGGAACTCCTCCTCTGGC 0.557 NaN 1 0 4.87955e-14 1 5.52899e-14 24 70 PATZ1 23598 broad.mit.edu 37 22 31722980 31722980 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:31722980G>T uc003akq.2 - 5 2622 c.1961C>A c.(1960-1962)TCT>TAT p.S654Y PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Missense_Mutation_p.S608Y NM_014323 NP_055138 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 654 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) soft_tissue(2) 2 CTCGAGGAGAGACATGTTCTG 0.567 NaN 1 0 2.27731e-05 1 2.38323e-05 21 79 C22orf24 25775 broad.mit.edu 37 22 32334043 32334043 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:32334043G>C uc003aly.2 - 2 177 c.10C>G c.(10-12)CAA>GAA p.Q4E C22orf24_uc003alx.2_RNA NM_015372 NP_056187 Q9Y442 CV024_HUMAN hypothetical protein LOC25775 4 integral to membrane central_nervous_system(1) 1 GTATCCTCTTGAGTTGTCATG 0.328 NaN 0 0 0 1 0 47 194 APOL5 80831 broad.mit.edu 37 22 36123215 36123215 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:36123215G>C uc003aof.2 + 3 1100 c.1100G>C c.(1099-1101)CGA>CCA p.R367P NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN apolipoprotein L5 367 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding 0 AGGGCTGTTCGAGGATCCCGT 0.607 NaN 0 0 0 1 0 9 52 MYH9 4627 broad.mit.edu 37 22 36684830 36684830 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:36684830C>A uc003apg.2 - 33 4944 c.4713G>T c.(4711-4713)CGG>CGT p.R1571R NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1571 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CCTGCAGGTCCCGCTCGAACT 0.642 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 1 0 2.27731e-05 1 2.38323e-05 22 139 FOXRED2 80020 broad.mit.edu 37 22 36894043 36894043 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:36894043C>T uc003apn.3 - 5 1485 c.1377G>A c.(1375-1377)TTG>TTA p.L459L FOXRED2_uc003apm.3_Silent_p.L11L|FOXRED2_uc003apo.3_Silent_p.L459L|FOXRED2_uc003app.3_Silent_p.L459L NM_024955 NP_079231 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 459 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding lung(1)|kidney(1) 2 CTCACTCCTTCAACAGGATGA 0.602 NaN 0 0 0 1 0 19 53 MICALL1 85377 broad.mit.edu 37 22 38323565 38323565 + Nonsense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:38323565C>G uc003aui.2 + 9 1697 c.1613C>G c.(1612-1614)TCA>TGA p.S538* NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN molecule interacting with Rab13 538 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1) 1 Melanoma(58;0.045) AAGAGCTCCTCAGAGCCTGCT 0.637 NaN 0 0 0 1 0 14 69 MICALL1 85377 broad.mit.edu 37 22 38323678 38323678 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:38323678C>G uc003aui.2 + 9 1810 c.1726C>G c.(1726-1728)CAA>GAA p.Q576E NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN molecule interacting with Rab13 576 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1) 1 Melanoma(58;0.045) ACAAATGCCTCAAGCCAGCCC 0.642 NaN 0 0 0 1 0 24 130 APOBEC3D 140564 broad.mit.edu 37 22 39425374 39425374 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:39425374G>A uc011aoe.1 + 5 666 c.612G>A c.(610-612)CCG>CCA p.P204P APOBEC3D_uc011aof.1_Intron|APOBEC3D_uc003awu.3_Intron|APOBEC3D_uc003awt.3_Silent_p.P204P|APOBEC3D_uc010gxu.2_5'UTR NM_152426 NP_689639 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 204 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding 0 Melanoma(58;0.04) TCAGAAACCCGATGGAGGCAA 0.522 NaN 0 0 0 1 0 23 51 APOBEC3G 60489 broad.mit.edu 37 22 39477087 39477087 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:39477087C>T uc003awx.2 + 3 663 c.321C>T c.(319-321)TTC>TTT p.F107F APOBEC3G_uc003awy.2_Silent_p.F40F NM_021822 NP_068594 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 107 base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Melanoma(58;0.04) TGGCCACGTTCCTGGCCGAGG 0.562 NaN 0 0 0 1 0 13 87 RPL3 6122 broad.mit.edu 37 22 39710727 39710727 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:39710727C>T uc003axi.2 - 6 881 c.813G>A c.(811-813)CAG>CAA p.Q271Q RPL3_uc003axh.2_Silent_p.Q222Q|RPL3_uc003axj.2_Silent_p.Q119Q|RPL3_uc010gxx.2_Silent_p.Q219Q|RPL3_uc003axg.2_Silent_p.Q219Q|RPL3_uc003axk.1_Silent_p.Q119Q NM_000967 NP_000958 P39023 RL3_HUMAN ribosomal protein L3 isoform a 271 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome breast(1)|kidney(1) 2 Melanoma(58;0.04) GGTAGCCTTTCTGCCCAGCGC 0.622 NaN 0 0 0 1 0 9 31 CACNA1I 8911 broad.mit.edu 37 22 40058011 40058011 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:40058011C>T uc003ayc.2 + 17 2943 c.2943C>T c.(2941-2943)AGC>AGT p.S981S CACNA1I_uc003ayd.2_Silent_p.S946S|CACNA1I_uc003aye.2_Silent_p.S896S|CACNA1I_uc003ayf.2_Silent_p.S861S NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 981 Cytoplasmic (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GGGGCCGCAGCGCGGCCTGGG 0.721 NaN 0 0 0 1 0 3 4 WBP2NL 164684 broad.mit.edu 37 22 42422777 42422777 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:42422777C>G uc011ape.1 + 7 538 c.522C>G c.(520-522)GTC>GTG p.V174V WBP2NL_uc003bbt.2_Silent_p.V174V|WBP2NL_uc011apk.1_Silent_p.V46V|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_RNA NM_152613 NP_689826 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 174 egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding ovary(2) 2 CAGTTATTGTCTATGGAGCCC 0.468 NaN 0 0 0 1 0 51 85 ARFGAP3 26286 broad.mit.edu 37 22 43230283 43230283 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:43230283C>A uc003bdd.2 - 5 662 c.442G>T c.(442-444)GAG>TAG p.E148* ARFGAP3_uc010gzf.2_Nonsense_Mutation_p.E104*|ARFGAP3_uc011apu.1_Intron NM_014570 NP_055385 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating 148 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(1) 1 AAATCTTCCTCCTTTGGTGGA 0.423 NaN 1 0 6.00099e-30 1 6.94967e-30 70 110 TTLL1 25809 broad.mit.edu 37 22 43447825 43447825 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:43447825C>T uc003bdi.2 - 9 1201 c.960G>A c.(958-960)CTG>CTA p.L320L TTLL1_uc010gzh.2_Intron|TTLL1_uc003bdj.2_Silent_p.L206L|TTLL1_uc003bdh.2_Silent_p.L282L NM_012263 NP_036395 O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 320 TTL. protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity skin(1) 1 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) GCCAGGGCTTCAGCTTGTCGT 0.572 NaN 0 0 0 1 0 17 59 SMC1B 27127 broad.mit.edu 37 22 45785753 45785753 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:45785753G>A uc003bgc.2 - 10 1622 c.1570C>T c.(1570-1572)CAT>TAT p.H524Y SMC1B_uc003bgd.2_Missense_Mutation_p.H524Y|SMC1B_uc003bge.1_Missense_Mutation_p.H307Y NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 524 Flexible hinge. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TGAATAGGATGACACAGGTCA 0.338 NaN 0 0 0 1 0 36 73 WNT7B 7477 broad.mit.edu 37 22 46327115 46327115 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:46327115C>T uc003bgo.2 - 3 807 c.433G>A c.(433-435)GAG>AAG p.E145K WNT7B_uc010haa.2_Missense_Mutation_p.E149K NM_058238 NP_478679 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, 145 activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity lung(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) TTCCAGCCCTCGGCTTGGTTG 0.687 NaN 0 0 0 1 0 15 69 PKDREJ 10343 broad.mit.edu 37 22 46655581 46655581 + Silent SNP A A G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:46655581A>G uc003bhh.2 - 1 3639 c.3639T>C c.(3637-3639)CAT>CAC p.H1213H NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1213 Cytoplasmic (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GCCCCCGAAGATGCTGGTCCA 0.438 NaN 0 0 0 1 0 24 117 PLXNB2 23654 broad.mit.edu 37 22 50719197 50719197 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr22:50719197C>T uc003bkv.3 - 24 4075 c.3969G>A c.(3967-3969)CTG>CTA p.L1323L PLXNB2_uc003bkt.1_Silent_p.L115L|PLXNB2_uc003bku.1_Silent_p.L308L NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1323 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ACTTGCTGTTCAGCAGGTTGG 0.657 NaN 0 0 0 1 0 8 29 BHLHE40 8553 broad.mit.edu 37 3 5025300 5025300 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:5025300C>T uc003bqf.2 + 5 1469 c.1162C>T c.(1162-1164)CAT>TAT p.H388Y BHLHE40_uc011asw.1_Missense_Mutation_p.H248Y NM_003670 NP_003661 O14503 BHE40_HUMAN basic helix-loop-helix family, member e40 388 Golgi apparatus|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CTTGCCAGCTCATCCGTCCGT 0.547 NaN 0 0 0 1 0 67 84 RPL32 6161 broad.mit.edu 37 3 12877707 12877707 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:12877707C>T uc003bxl.2 - 3 507 c.294G>A c.(292-294)GAG>GAA p.E98E RPL32_uc003bxm.2_Silent_p.E98E|RPL32_uc003bxn.2_Silent_p.E98E NM_001007074 NP_001007075 P62910 RL32_HUMAN ribosomal protein L32 98 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome ovary(1) 1 TGTGAGCGATCTCGGCACAGT 0.522 NaN 0 0 0 1 0 37 45 FBLN2 2199 broad.mit.edu 37 3 13670693 13670693 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:13670693C>T uc011avb.1 + 12 2727 c.2602C>T c.(2602-2604)CGC>TGC p.R868C FBLN2_uc011auz.1_Missense_Mutation_p.R894C|FBLN2_uc011ava.1_Missense_Mutation_p.R915C|FBLN2_uc011avc.1_Missense_Mutation_p.R915C NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 868 EGF-like 6; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) AGGTGTGCACCGCTGCGGTGA 0.652 NaN 0 0 0 1 0 12 46 XPC 7508 broad.mit.edu 37 3 14190071 14190071 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:14190071G>A uc011ave.1 - 13 2515 c.2411C>T c.(2410-2412)TCC>TTC p.S804F XPC_uc011avf.1_Missense_Mutation_p.S611F|XPC_uc011avg.1_Missense_Mutation_p.S767F NM_004628 NP_004619 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 804 DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding ovary(2)|breast(1) 3 CACGGGATGGGAGTAGCCGCC 0.612 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma NER Xeroderma_Pigmentosum 0 0 0 1 0 5 54 EAF1 85403 broad.mit.edu 37 3 15477906 15477906 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:15477906C>G uc003bzu.2 + 5 807 c.584C>G c.(583-585)TCT>TGT p.S195C EAF1_uc011avq.1_Missense_Mutation_p.S94C NM_033083 NP_149074 Q96JC9 EAF1_HUMAN ELL associated factor 1 195 Ser-rich.|Necessary for transactivation activity. regulation of transcription, DNA-dependent|transcription, DNA-dependent Cajal body|nuclear speck protein binding central_nervous_system(1) 1 GGGAGCAGCTCTTCAGACTCT 0.532 NaN 0 0 0 1 0 35 22 EAF1 85403 broad.mit.edu 37 3 15477986 15477986 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:15477986C>T uc003bzu.2 + 5 887 c.664C>T c.(664-666)CCG>TCG p.P222S EAF1_uc011avq.1_Missense_Mutation_p.P121S NM_033083 NP_149074 Q96JC9 EAF1_HUMAN ELL associated factor 1 222 Necessary for transactivation activity. regulation of transcription, DNA-dependent|transcription, DNA-dependent Cajal body|nuclear speck protein binding central_nervous_system(1) 1 AGCCTCTCCTCCGCAGCCTTC 0.587 NaN 0 0 0 1 0 68 39 NEK10 152110 broad.mit.edu 37 3 27233641 27233641 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:27233641G>C uc010hfk.2 - 5 549 c.320C>G c.(319-321)TCT>TGT p.S107C NEK10_uc003cds.1_Missense_Mutation_p.S192C|NEK10_uc010hfj.2_Missense_Mutation_p.S107C Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 795 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 CTGGGATGTAGATAAGTTGTC 0.433 NaN 0 0 0 1 0 29 69 UBP1 7342 broad.mit.edu 37 3 33467109 33467109 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:33467109C>T uc003cfq.3 - 2 768 c.238G>A c.(238-240)GAT>AAT p.D80N UBP1_uc003cfr.3_Missense_Mutation_p.D80N|UBP1_uc010hga.2_Missense_Mutation_p.D80N NM_014517 NP_055332 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) isoform a 80 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity kidney(2) 2 AGCGTTTCATCATGCAGTTTT 0.403 NaN 0 0 0 1 0 17 18 ITGA9 3680 broad.mit.edu 37 3 37574872 37574872 + Nonsense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:37574872C>T uc003chd.2 + 14 1494 c.1441C>T c.(1441-1443)CAG>TAG p.Q481* ITGA9_uc003chc.2_Nonsense_Mutation_p.Q481* NM_002207 NP_002198 Q13797 ITA9_HUMAN integrin, alpha 9 precursor 481 Extracellular (Potential). axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|pancreas(1)|lung(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CACAGCGCCTCAGTGTCACGA 0.557 NaN 0 0 0 1 0 9 34 DLEC1 9940 broad.mit.edu 37 3 38139354 38139354 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:38139354G>A uc003cho.1 + 18 2706 c.2685G>A c.(2683-2685)ATG>ATA p.M895I DLEC1_uc003chp.1_Missense_Mutation_p.M895I|DLEC1_uc010hgv.1_Missense_Mutation_p.M895I|DLEC1_uc003chr.1_Missense_Mutation_p.M1I|DLEC1_uc010hgx.1_RNA NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 895 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CATGGCGCATGAAGGAGAGCC 0.597 NaN 0 0 0 1 0 13 51 SLC22A14 9389 broad.mit.edu 37 3 38359724 38359724 + Nonsense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:38359724C>G uc010hhc.1 + 11 1811 c.1769C>G c.(1768-1770)TCA>TGA p.S590* SLC22A14_uc003cib.2_Nonsense_Mutation_p.S590*|SLC22A14_uc011ayo.1_RNA NM_004803 NP_004794 Q9Y267 S22AE_HUMAN organic cation transporter like 4 590 Cytoplasmic (Potential). integral to plasma membrane organic cation transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) AAGGAAACATCATCTGATGAT 0.488 NaN 0 0 0 1 0 21 109 EIF1B 10289 broad.mit.edu 37 3 40352532 40352532 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:40352532G>A uc003ckc.2 + 2 440 c.180G>A c.(178-180)GTG>GTA p.V60V uc003ckb.2_5'Flank NM_005875 NP_005866 O60739 EIF1B_HUMAN translation factor sui1 homolog 60 regulation of translational initiation protein binding|translation initiation factor activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) AGAAACTTGTGAAAGCTTTCA 0.398 NaN 0 0 0 1 0 12 76 LARS2 23395 broad.mit.edu 37 3 45441783 45441783 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:45441783C>G uc003cop.1 + 4 466 c.281C>G c.(280-282)TCT>TGT p.S94C LARS2_uc010hit.1_Intron NM_015340 NP_056155 Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial 94 HIGH region. leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) CCTTATCCTTCTGGTAAGCTG 0.463 NaN 0 0 0 1 0 34 79 LZTFL1 54585 broad.mit.edu 37 3 45872601 45872601 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:45872601C>G uc003cox.1 - 6 624 c.486G>C c.(484-486)GAG>GAC p.E162D LZTFL1_uc003coy.1_Missense_Mutation_p.E145D|LZTFL1_uc011bak.1_RNA NM_020347 NP_065080 Q9NQ48 LZTL1_HUMAN leucine zipper transcription factor-like 1 162 Potential. 0 BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) ACTTCAATTTCTCATTCTCTT 0.224 NaN 0 0 0 1 0 6 31 SCAP 22937 broad.mit.edu 37 3 47459204 47459204 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:47459204G>C uc003crh.1 - 17 2815 c.2560C>G c.(2560-2562)CTG>GTG p.L854V SCAP_uc011baz.1_Missense_Mutation_p.L598V|SCAP_uc003crg.2_Missense_Mutation_p.L461V NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 854 Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CGGTGTCTCAGGGGAGGGCTG 0.657 NaN 0 0 0 1 0 5 15 P4HTM 54681 broad.mit.edu 37 3 49040020 49040020 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:49040020G>T uc003cvg.2 + 4 1064 c.715G>T c.(715-717)GAT>TAT p.D239Y P4HTM_uc003cvh.2_Missense_Mutation_p.D239Y|P4HTM_uc010hkm.1_Missense_Mutation_p.D125Y NM_177939 NP_808808 Q9NXG6 P4HTM_HUMAN hypoxia-inducible factor prolyl 4-hydroxylase 239 Lumenal (Potential).|EF-hand 2.|2 (Potential). endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1)|pancreas(1) 2 Vitamin C(DB00126) GGCTGACCCTGATGGTGACGG 0.562 NaN 1 0 2.27111e-07 1 2.43748e-07 13 72 DALRD3 55152 broad.mit.edu 37 3 49054900 49054900 + Silent SNP T T C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:49054900T>C uc003cvk.1 - 4 785 c.765A>G c.(763-765)CTA>CTG p.L255L DALRD3_uc003cvl.1_Silent_p.L255L|DALRD3_uc003cvm.1_Silent_p.L88L|DALRD3_uc010hko.1_Silent_p.L88L|DALRD3_uc011bca.1_Silent_p.L255L NM_001009996 NP_001009996 Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 255 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCCAATGCCATAGAGCCTCTT 0.527 NaN 0 0 0 1 0 16 26 QRICH1 54870 broad.mit.edu 37 3 49094851 49094851 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:49094851G>A uc010hkq.2 - 4 1078 c.782C>T c.(781-783)TCA>TTA p.S261L QRICH1_uc003cvu.2_Missense_Mutation_p.S261L|QRICH1_uc003cvv.2_Missense_Mutation_p.S261L NM_198880 NP_942581 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 261 Gln-rich. ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CGGCTGCCCTGAGATGGCGTA 0.612 NaN 0 0 0 1 0 11 57 C3orf62 375341 broad.mit.edu 37 3 49314142 49314142 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:49314142G>A uc003cwn.2 - 1 367 c.164C>T c.(163-165)TCC>TTC p.S55F C3orf62_uc003cwm.2_5'Flank NM_198562 NP_940964 Q6ZUJ4 CC062_HUMAN hypothetical protein LOC375341 55 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAGCGAGAAGGAGAGCGGCGC 0.587 NaN 0 0 0 1 0 13 54 GMPPB 29925 broad.mit.edu 37 3 49759286 49759286 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:49759286C>T uc003cxk.1 - 9 1207 c.982G>A c.(982-984)GAG>AAG p.E328K AMIGO3_uc003cxj.2_5'Flank|GMPPB_uc003cxl.1_Missense_Mutation_p.E355K NM_021971 NP_068806 Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B isoform 2 328 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity 0 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ATGACGTCCTCACCCAGCACT 0.597 NaN 0 0 0 1 0 14 40 C3orf18 51161 broad.mit.edu 37 3 50603073 50603073 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:50603073C>G uc003das.2 - 2 509 c.58G>C c.(58-60)GAG>CAG p.E20Q C3orf18_uc003dar.2_Missense_Mutation_p.E20Q|C3orf18_uc011bdr.1_Intron|C3orf18_uc010hlo.2_Missense_Mutation_p.E20Q|C3orf18_uc010hlp.2_Intron|C3orf18_uc003dat.2_Missense_Mutation_p.E20Q NM_016210 NP_057294 Q9UK00 CC018_HUMAN hypothetical protein LOC51161 20 integral to membrane pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207) AGGTCAGACTCAGAGGTGGGT 0.622 NaN 0 0 0 1 0 3 23 DUSP7 1849 broad.mit.edu 37 3 52090218 52090218 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:52090218C>A uc003dct.2 - 1 244 c.165G>T c.(163-165)AAG>AAT p.K55N DUSP7_uc010hma.2_Missense_Mutation_p.K55N NM_001947 NP_001938 Q16829 DUS7_HUMAN dual specificity phosphatase 7 55 inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) ACTCGGCGCTCTTGCAGGGCA 0.398 NaN 1 0 0.115264 1 0.115908 3 7 POC1A 25886 broad.mit.edu 37 3 52183865 52183865 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:52183865C>T uc003dcu.2 - 3 560 c.242G>A c.(241-243)CGA>CAA p.R81Q POC1A_uc003dcv.2_Missense_Mutation_p.R43Q|POC1A_uc003dcw.2_Missense_Mutation_p.R81Q NM_015426 NP_056241 Q8NBT0 POC1A_HUMAN WD repeat domain 51A isoform 1 81 WD 2. centriole|microtubule basal body 0 AGTCTTGTCTCGGGAGCCGGA 0.597 NaN 0 0 0 1 0 11 51 PTPRG 5793 broad.mit.edu 37 3 62188855 62188855 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:62188855G>A uc003dlb.2 + 12 2105 c.1386G>A c.(1384-1386)GCG>GCA p.A462A PTPRG_uc003dlc.2_Silent_p.A462A NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 462 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) AGCCCACAGCGTCTCCTGCCT 0.547 NaN 0 0 0 1 0 13 65 CADPS 8618 broad.mit.edu 37 3 62385241 62385241 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:62385241C>T uc003dll.2 - 30 4262 c.3902G>A c.(3901-3903)CGA>CAA p.R1301Q CADPS_uc003dlj.1_Missense_Mutation_p.R256Q|CADPS_uc003dlk.1_Missense_Mutation_p.R749Q|CADPS_uc003dlm.2_Missense_Mutation_p.R1262Q|CADPS_uc003dln.2_Missense_Mutation_p.R1222Q NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 1301 Mediates targeting and association with DCVs (By similarity). exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CCCTTGCAATCGGAAATCTCT 0.488 NaN 0 0 0 1 0 19 67 PDZRN3 23024 broad.mit.edu 37 3 73453372 73453372 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:73453372C>T uc003dpl.1 - 4 1189 c.1093G>A c.(1093-1095)GAA>AAA p.E365K PDZRN3_uc011bgh.1_Missense_Mutation_p.E22K|PDZRN3_uc010hoe.1_Missense_Mutation_p.E63K|PDZRN3_uc011bgf.1_Missense_Mutation_p.E82K|PDZRN3_uc011bgg.1_Missense_Mutation_p.E85K NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 365 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) ATGATATGTTCAAAGGTGATG 0.512 NaN 0 0 0 1 0 49 65 CNTN3 5067 broad.mit.edu 37 3 74351884 74351884 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:74351884C>T uc003dpm.1 - 13 1823 c.1743G>A c.(1741-1743)ACG>ACA p.T581T NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 581 Ig-like C2-type 6. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TGTCCACCCCCGTTTGCACCA 0.408 NaN 0 0 0 1 0 5 23 TFG 10342 broad.mit.edu 37 3 100432575 100432575 + Nonsense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:100432575C>T uc003due.2 + 2 495 c.46C>T c.(46-48)CAA>TAA p.Q16* TFG_uc003duf.2_Nonsense_Mutation_p.Q16*|TFG_uc003dug.2_Nonsense_Mutation_p.Q16*|TFG_uc003duh.2_Nonsense_Mutation_p.Q16*|TFG_uc003dui.2_Nonsense_Mutation_p.Q16* NM_006070 NP_006061 Q92734 TFG_HUMAN TRK-fused 16 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/ALK(7) haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1) 11 CATCAAAGCTCAACTTGGGGA 0.378 NaN T NTRK1|ALK papillary thyroid|ALCL|NSCLC 0 0 0 1 0 38 79 TFG 10342 broad.mit.edu 37 3 100432661 100432661 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:100432661C>T uc003due.2 + 2 581 c.132C>T c.(130-132)TTC>TTT p.F44F TFG_uc003duf.2_Silent_p.F44F|TFG_uc003dug.2_Silent_p.F44F|TFG_uc003duh.2_Silent_p.F44F|TFG_uc003dui.2_Silent_p.F44F NM_006070 NP_006061 Q92734 TFG_HUMAN TRK-fused 44 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/ALK(7) haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1) 11 AACGAGTTTTCAGAGGAAAAC 0.289 NaN T NTRK1|ALK papillary thyroid|ALCL|NSCLC 0 0 0 1 0 32 56 CEP97 79598 broad.mit.edu 37 3 101451356 101451356 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:101451356G>A uc003dvk.1 + 6 613 c.586G>A c.(586-588)GAA>AAA p.E196K CEP97_uc010hpm.1_Missense_Mutation_p.E162K|CEP97_uc011bhf.1_Missense_Mutation_p.E196K|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.E34K NM_024548 NP_078824 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 196 LRR 8. centrosome|nucleus protein binding ovary(2) 2 ATCCTTAACTGAATTGGAACA 0.398 NaN 0 0 0 1 0 8 52 FAM55C 91775 broad.mit.edu 37 3 101540511 101540511 + Nonsense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:101540511C>T uc003dvn.2 + 8 2030 c.1393C>T c.(1393-1395)CGA>TGA p.R465* FAM55C_uc010hpn.2_Nonsense_Mutation_p.R465* NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 465 extracellular region ovary(1)|pancreas(1)|skin(1) 3 GAACATCCGTCGAGCAGTGGT 0.572 NaN 0 0 0 1 0 18 92 FAM55C 91775 broad.mit.edu 37 3 101540531 101540531 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:101540531C>T uc003dvn.2 + 8 2050 c.1413C>T c.(1411-1413)CTC>CTT p.L471L FAM55C_uc010hpn.2_Silent_p.L471L NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 471 extracellular region ovary(1)|pancreas(1)|skin(1) 3 TTCGGCTCCTCGATCGAAGCC 0.572 NaN 0 0 0 1 0 18 110 SLC35A5 55032 broad.mit.edu 37 3 112300027 112300027 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:112300027C>G uc003dze.2 + 6 1308 c.1063C>G c.(1063-1065)CCC>GCC p.P355A NM_017945 NP_060415 Q9BS91 S35A5_HUMAN solute carrier family 35, member A5 355 Helical; (Potential). Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 TGACTTCAGGCCCTCCCTGGA 0.448 NaN 0 0 0 1 0 13 72 BOC 91653 broad.mit.edu 37 3 113002302 113002302 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:113002302C>G uc003dzx.2 + 16 3097 c.2476C>G c.(2476-2478)CTG>GTG p.L826V BOC_uc003dzy.2_Missense_Mutation_p.L826V|BOC_uc003dzz.2_Missense_Mutation_p.L827V|BOC_uc003eab.2_Missense_Mutation_p.L527V|BOC_uc003eac.2_Missense_Mutation_p.L141V NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 826 Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) ACCCCCAACTCTGGCCCCACC 0.572 NaN 0 0 0 1 0 30 143 KIAA2018 205717 broad.mit.edu 37 3 113379239 113379239 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:113379239C>G uc003eam.2 - 7 1701 c.1290G>C c.(1288-1290)CAG>CAC p.Q430H KIAA2018_uc003eal.2_Missense_Mutation_p.Q374H NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 430 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 TCCACGTTGTCTGTGTGTTTC 0.413 NaN 0 0 0 1 0 16 79 ZBTB20 26137 broad.mit.edu 37 3 114069835 114069835 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:114069835C>T uc003ebi.2 - 4 1270 c.1090G>A c.(1090-1092)GAG>AAG p.E364K ZBTB20_uc003ebj.2_Missense_Mutation_p.E291K|ZBTB20_uc010hqp.2_Missense_Mutation_p.E291K|ZBTB20_uc003ebk.2_Missense_Mutation_p.E291K|ZBTB20_uc003ebl.2_Missense_Mutation_p.E291K|ZBTB20_uc003ebm.2_Missense_Mutation_p.E291K|ZBTB20_uc003ebn.2_Missense_Mutation_p.E291K|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) TCGGTGCCCTCGGCCTGGTCT 0.607 NaN 0 0 0 1 0 16 52 MYLK 4638 broad.mit.edu 37 3 123419600 123419600 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:123419600C>T uc003ego.2 - 18 2997 c.2715G>A c.(2713-2715)GTG>GTA p.V905V MYLK_uc011bjw.1_Silent_p.V905V|MYLK_uc003egp.2_Silent_p.V836V|MYLK_uc003egq.2_Silent_p.V905V|MYLK_uc003egr.2_Silent_p.V836V|MYLK_uc003egs.2_Silent_p.V729V|MYLK_uc003egt.2_Silent_p.V96V NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 905 1-2.|5 X 28 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCTTTGTACTCACCTTCTTCC 0.592 NaN 0 0 0 1 0 8 55 CCDC14 64770 broad.mit.edu 37 3 123634090 123634090 + Nonsense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:123634090G>A uc011bjx.1 - 13 2489 c.2398C>T c.(2398-2400)CAG>TAG p.Q800* CCDC14_uc003egv.3_Nonsense_Mutation_p.Q441*|CCDC14_uc003egx.3_Nonsense_Mutation_p.Q600*|CCDC14_uc010hrt.2_Nonsense_Mutation_p.Q759*|CCDC14_uc003egy.3_Nonsense_Mutation_p.Q600*|CCDC14_uc003egz.2_Intron NM_022757 NP_073594 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 800 centrosome 0 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) ATTTGTGGCTGAGGGGATAGT 0.388 NaN 0 0 0 1 0 17 74 EEFSEC 60678 broad.mit.edu 37 3 127872571 127872571 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:127872571C>T uc003eki.2 + 1 259 c.221C>T c.(220-222)GCG>GTG p.A74V EEFSEC_uc003ekj.2_Missense_Mutation_p.A74V|RUVBL1_uc003ekf.2_5'UTR NM_021937 NP_068756 P57772 SELB_HUMAN eukaryotic elongation factor, 74 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity ovary(1) 1 TTCCAGGCAGCGCCCGAGGCC 0.716 NaN 0 0 0 1 0 2 2 ACAD9 28976 broad.mit.edu 37 3 128631370 128631370 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:128631370G>A uc003ela.3 + 18 1988 c.1786G>A c.(1786-1788)GAG>AAG p.E596K KIAA1257_uc003elg.1_Intron|ACAD9_uc011bks.1_Missense_Mutation_p.E473K|ACAD9_uc003elb.2_Missense_Mutation_p.E473K|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.E248K|uc003elf.1_Intron NM_014049 NP_054768 Q9H845 ACAD9_HUMAN acyl-Coenzyme A dehydrogenase family, member 9 596 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding ovary(2)|central_nervous_system(1) 3 AAACCTAGATGAGCAGATTAA 0.512 NaN 0 0 0 1 0 21 28 C3orf37 56941 broad.mit.edu 37 3 129007759 129007759 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:129007759C>T uc003elt.2 + 3 334 c.246C>T c.(244-246)TTC>TTT p.F82F C3orf37_uc003elu.2_Silent_p.F82F|C3orf37_uc003elv.2_Silent_p.F82F|C3orf37_uc003elw.2_Silent_p.F82F NM_020187 NP_064572 Q96FZ2 CC037_HUMAN hypothetical protein LOC56941 82 ovary(1) 1 CTTCTTGGTTCAAAGAAAGTG 0.478 NaN 0 0 0 1 0 9 69 H1FX 8971 broad.mit.edu 37 3 129034497 129034497 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:129034497C>G uc003elx.2 - 1 624 c.249G>C c.(247-249)CAG>CAC p.Q83H C3orf47_uc011bkv.1_5'Flank NM_006026 NP_006017 Q92522 H1X_HUMAN H1 histone family, member X 83 H15. nucleosome assembly nucleosome|nucleus DNA binding 0 TGCGCCCATTCTGCTGGTCGA 0.612 NaN 0 0 0 1 0 3 3 COL6A6 131873 broad.mit.edu 37 3 130287183 130287183 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:130287183C>T uc010htl.2 + 5 2167 c.2136C>T c.(2134-2136)TTC>TTT p.F712F NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 712 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CTCAGTACTTCAGCCCCACCA 0.502 NaN 0 0 0 1 0 21 93 NEK11 79858 broad.mit.edu 37 3 130799266 130799266 + Splice_Site SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:130799266G>C uc003eny.2 + 4 497 c.171_splice c.e4-1 p.L57_splice NEK11_uc003enx.2_Splice_Site_p.L57_splice|NEK11_uc003eoa.2_Splice_Site_p.L57_splice|NEK11_uc003enz.2_Splice_Site|NEK11_uc010htn.2_Splice_Site|NEK11_uc011blk.1_Intron|NEK11_uc011bll.1_Splice_Site_p.L57_splice|NEK11_uc003enw.1_Splice_Site_p.L57_splice|NEK11_uc011blm.1_Splice_Site_p.L57_splice|NEK11_uc010hto.1_5'Flank NM_024800 NP_079076 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 isoform 1 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity large_intestine(4)|stomach(1)|central_nervous_system(1) 6 TTTGATCTCAGAAAGGTACTT 0.378 NaN 0 0 0 1 0 3 18 TMEM22 80723 broad.mit.edu 37 3 136574418 136574418 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:136574418C>G uc003erf.3 + 2 1330 c.1116C>G c.(1114-1116)ATC>ATG p.I372M TMEM22_uc003erg.3_Missense_Mutation_p.I372M|TMEM22_uc010hub.2_Missense_Mutation_p.I372M NM_001097600 NP_001091069 Q8TBE7 TMM22_HUMAN transmembrane protein 22 372 DUF6 2.|Helical; (Potential). Golgi apparatus|integral to membrane ovary(1) 1 TTCCTAGCATCTATGATGTTT 0.403 NaN 0 0 0 1 0 33 157 MED12L 116931 broad.mit.edu 37 3 150883739 150883739 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:150883739C>G uc003eyp.2 + 10 1502 c.1464C>G c.(1462-1464)TTC>TTG p.F488L MED12L_uc011bnz.1_Missense_Mutation_p.F348L|MED12L_uc003eyn.2_Missense_Mutation_p.F488L|MED12L_uc003eyo.2_Missense_Mutation_p.F488L NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 488 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATAAGATTTTCTGGGCAAACC 0.343 NaN 0 0 0 1 0 25 98 OTOL1 131149 broad.mit.edu 37 3 161221331 161221331 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:161221331C>T uc011bpb.1 + 4 1035 c.1035C>T c.(1033-1035)TTC>TTT p.F345F NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN otolin-1 precursor 345 C1q. collagen 0 GGTCGGCTTTCAGCGCTGGTT 0.517 NaN 0 0 0 1 0 13 41 OTOL1 131149 broad.mit.edu 37 3 161221535 161221535 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:161221535C>G uc011bpb.1 + 4 1239 c.1239C>G c.(1237-1239)TTC>TTG p.F413L NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN otolin-1 precursor 413 C1q. collagen 0 AGAAGCAGTTCAAGTCCAGAG 0.473 NaN 0 0 0 1 0 5 42 LRRIQ4 344657 broad.mit.edu 37 3 169539961 169539961 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:169539961G>T uc003fgb.2 + 1 252 c.252G>T c.(250-252)AGG>AGT p.R84S NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 84 LRR 3. 0 ACAACCTGAGGAGCCTGTGCC 0.532 NaN 1 0 6.72482e-11 1 7.47862e-11 15 124 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 1 0 12 81 YEATS2 55689 broad.mit.edu 37 3 183503990 183503990 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:183503990C>T uc003fly.2 + 20 3009 c.2814C>T c.(2812-2814)CTC>CTT p.L938L YEATS2_uc003flz.2_Silent_p.L17L NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 938 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCTCACAGCTCTCGAAGCCTG 0.547 NaN 0 0 0 1 0 30 54 DVL3 1857 broad.mit.edu 37 3 183883967 183883967 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:183883967G>T uc003fms.2 + 8 957 c.817G>T c.(817-819)GAC>TAC p.D273Y DVL3_uc011bqw.1_Missense_Mutation_p.D273Y|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_Missense_Mutation_p.D105Y NM_004423 NP_004414 Q92997 DVL3_HUMAN dishevelled 3 273 PDZ. canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity ovary(1)|lung(1)|breast(1) 3 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CGAGCGTGGTGACGGCGGCAT 0.502 NaN 1 0 9.31168e-06 1 9.77726e-06 12 109 FAM131A 131408 broad.mit.edu 37 3 184059850 184059850 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:184059850C>T uc003fog.2 + 1 1593 c.229C>T c.(229-231)CCA>TCA p.P77S FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Intron|FAM131A_uc003foe.2_Intron NM_144635 NP_653236 Q6UXB0 F131A_HUMAN hypothetical protein LOC131408 precursor 77 extracellular region breast(1) 1 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCCCCTATCTCCAGGTATTTC 0.597 NaN 0 0 0 1 0 75 177 MASP1 5648 broad.mit.edu 37 3 186947621 186947621 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:186947621C>G uc003frh.1 - 11 1700 c.1368G>C c.(1366-1368)CAG>CAC p.Q456H NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 456 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TGGTGCCTTTCTGGGCTGGGC 0.597 NaN 0 0 0 1 0 11 38 ATP13A5 344905 broad.mit.edu 37 3 193031929 193031929 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:193031929G>A uc011bsq.1 - 19 2212 c.2212C>T c.(2212-2214)CCA>TCA p.P738S NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 738 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TGGCTGCCTGGAGGGATCATT 0.478 NaN 0 0 0 1 0 55 107 MUC4 4585 broad.mit.edu 37 3 195516055 195516055 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:195516055G>T uc011bto.1 - 2 2856 c.2396C>A c.(2395-2397)TCA>TAA p.S799* MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Nonsense_Mutation_p.S681* NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 804 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTGCCCGCTGAGGTGGTTCG 0.587 NaN 1 0 2.32078e-09 1 2.5472e-09 12 123 MUC4 4585 broad.mit.edu 37 3 195517505 195517505 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr3:195517505G>C uc011bto.1 - 2 1406 c.946C>G c.(946-948)CAG>GAG p.Q316E MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.Q198E NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 321 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTTGTGTCCTGAGTAGAAGTC 0.468 NaN 0 0 0 1 0 31 135 RNF4 6047 broad.mit.edu 37 4 2514856 2514856 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:2514856G>A uc003gfb.2 + 7 757 c.421G>A c.(421-423)GAG>AAG p.E141K RNF4_uc010icj.2_Silent_p.Q87Q|RNF4_uc003gfc.2_Missense_Mutation_p.E141K NM_002938 NP_002929 P78317 RNF4_HUMAN ring finger protein 4 141 RING-type. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance cytoplasm|PML body androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding 0 all_epithelial(65;0.241) CGGATACTCAGAGGTAAGTAA 0.458 NaN 0 0 0 1 0 13 230 DOK7 285489 broad.mit.edu 37 4 3465126 3465126 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:3465126G>A uc003ghd.2 + 1 94 c.24G>A c.(22-24)GAG>GAA p.E8E DOK7_uc003ghe.2_5'UTR NM_173660 NP_775931 Q18PE1 DOK7_HUMAN downstream of tyrosine kinase 7 isoform 1 8 PH. positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CGCTGGTGGAGGGCCAGGTCA 0.378 NaN 0 0 0 1 0 2 3 ADRA2C 152 broad.mit.edu 37 4 3768990 3768990 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:3768990C>T uc003ghm.2 + 1 695 c.657C>T c.(655-657)TTC>TTT p.F219F ADRA2C_uc010icx.2_Silent_p.F219F NM_000683 NP_000674 P18825 ADA2C_HUMAN alpha-2C-adrenergic receptor 219 Helical; Name=5; (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion endosome|integral to plasma membrane alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) TCGGCTCCTTCTTCGCGCCCT 0.697 NaN 0 0 0 1 0 5 5 SORCS2 57537 broad.mit.edu 37 4 7194756 7194756 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:7194756C>A uc003gkb.3 + 1 383 c.383C>A c.(382-384)TCG>TAG p.S128* NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN VPS10 domain receptor protein SORCS 2 precursor 128 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(1)|central_nervous_system(1) 2 GGAGTGGCTTCGCGGGCGCAG 0.741 NaN 1 0 6.4e-05 1 6.66446e-05 3 7 GPR78 27201 broad.mit.edu 37 4 8583003 8583003 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:8583003G>A uc003glk.2 + 1 713 c.294G>A c.(292-294)GCG>GCA p.A98A CPZ_uc003gll.2_RNA NM_080819 NP_543009 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 98 Helical; Name=3; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|ovary(2) 6 TGAGCGTGGCGGCGCTGAGCG 0.716 NaN 0 0 0 1 0 7 8 FGFBP2 83888 broad.mit.edu 37 4 15964632 15964632 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:15964632C>T uc003gon.2 - 1 228 c.121G>A c.(121-123)GAT>AAT p.D41N NM_031950 NP_114156 Q9BYJ0 FGFP2_HUMAN killer-specific secretory protein of 37 kDa 41 extracellular space growth factor binding 0 GTGCAGGAATCTCTCCCTCCA 0.582 NaN 0 0 0 1 0 15 38 ARAP2 116984 broad.mit.edu 37 4 36122942 36122942 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:36122942C>G uc003gsq.1 - 23 4091 c.3753G>C c.(3751-3753)CAG>CAC p.Q1251H NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1251 Rho-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 CTGAGCATTTCTGAACCCTGT 0.338 NaN 0 0 0 1 0 27 77 TLR10 81793 broad.mit.edu 37 4 38776990 38776990 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:38776990C>G uc003gti.2 - 2 601 c.222G>C c.(220-222)CTG>CTC p.L74L TLR10_uc003gtj.2_Silent_p.L74L|TLR10_uc003gtk.2_Silent_p.L74L NM_030956 NP_112218 Q9BXR5 TLR10_HUMAN toll-like receptor 10 precursor 74 LRR 3.|Extracellular (Potential). inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity lung(1)|breast(1) 2 TCAAAACTCTCAGTTTGGAGA 0.388 NaN 0 0 0 1 0 10 49 KLB 152831 broad.mit.edu 37 4 39450291 39450291 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:39450291G>C uc003gua.2 + 5 3217 c.3120G>C c.(3118-3120)AAG>AAC p.K1040N KLB_uc011byj.1_Missense_Mutation_p.K1031N NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 1040 Cytoplasmic (Potential). carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 AGAAAGGCAAGAGAGTTGTTA 0.353 NaN 0 0 0 1 0 11 85 N4BP2 55728 broad.mit.edu 37 4 40123716 40123716 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:40123716G>A uc003guy.3 + 9 4323 c.3985G>A c.(3985-3987)GAA>AAA p.E1329K N4BP2_uc010ifq.2_Missense_Mutation_p.E1249K|N4BP2_uc010ifr.2_Missense_Mutation_p.E1249K NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 1329 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 AGATGAAGAAGAATTTATGAA 0.289 NaN 0 0 0 1 0 30 63 RBM47 54502 broad.mit.edu 37 4 40440385 40440385 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:40440385C>T uc003gvc.2 - 4 1236 c.526G>A c.(526-528)GAG>AAG p.E176K RBM47_uc003gvd.2_Missense_Mutation_p.E176K|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.E138K|RBM47_uc003gvg.1_Missense_Mutation_p.E176K NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 176 RRM 2. nucleus nucleotide binding|RNA binding breast(3) 3 AGCACGCCCTCGGTGACCTTG 0.637 NaN 0 0 0 1 0 24 89 GABRB1 2560 broad.mit.edu 37 4 47163397 47163397 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:47163397G>A uc003gxh.2 + 4 746 c.372G>A c.(370-372)CTG>CTA p.L124L GABRB1_uc011bze.1_Silent_p.L54L NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 124 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CCTACTTTCTGAATGACAAGA 0.443 NaN 0 0 0 1 0 31 116 LRRC66 339977 broad.mit.edu 37 4 52861501 52861501 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:52861501G>T uc003gzi.2 - 4 1700 c.1687C>A c.(1687-1689)CAC>AAC p.H563N NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 563 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GAGACAGCGTGAGACGTGCCA 0.483 NaN 1 0 2.79147e-13 1 3.15731e-13 52 120 KIT 3815 broad.mit.edu 37 4 55570029 55570029 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:55570029C>T uc010igr.2 + 5 983 c.896C>T c.(895-897)GCA>GTA p.A299V KIT_uc010igs.2_Missense_Mutation_p.A299V NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 299 Extracellular (Potential).|Ig-like C2-type 3. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TTTGGATCAGCAAATGTCACA 0.358 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 0 0 0 1 0 17 103 KDR 3791 broad.mit.edu 37 4 55961025 55961025 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:55961025G>A uc003has.2 - 21 3217 c.2915C>T c.(2914-2916)TCA>TTA p.S972L KDR_uc003hat.1_Missense_Mutation_p.S972L NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 972 Protein kinase.|Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AGAGCTGGCTGAGCTCTGGCT 0.527 NaN Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 0 0 0 1 0 34 81 KDR 3791 broad.mit.edu 37 4 55968171 55968171 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:55968171C>T uc003has.2 - 15 2461 c.2159G>A c.(2158-2160)CGG>CAG p.R720Q KDR_uc003hat.1_Missense_Mutation_p.R720Q NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 720 Ig-like C2-type 7.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AGTGAGGTTCCGGTTCCCATC 0.438 NaN Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 0 0 0 1 0 18 95 TECRL 253017 broad.mit.edu 37 4 65147237 65147237 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:65147237G>A uc003hcv.2 - 10 982 c.873C>T c.(871-873)TTC>TTT p.F291F TECRL_uc010ihi.2_RNA NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 291 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 ACATCCATGTGAAGGGGTTAT 0.338 NaN 0 0 0 1 0 11 60 UGT2B10 7365 broad.mit.edu 37 4 69885667 69885667 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:69885667C>G uc011cao.1 - 4 458 c.322G>C c.(322-324)GAC>CAC p.D108H UGT2B10_uc011can.1_Missense_Mutation_p.D108H P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 145 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 AAAACGATGTCAAATCTTGAC 0.368 NaN 0 0 0 1 0 22 83 UGT2B28 54490 broad.mit.edu 37 4 70146759 70146759 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:70146759G>A uc003hej.2 + 1 543 c.541G>A c.(541-543)GAA>AAA p.E181K UGT2B28_uc010ihr.2_Missense_Mutation_p.E181K NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 181 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) CTACACAATTGAAAGGCACAG 0.418 NaN 0 0 0 1 0 47 31 ADAMTS3 9508 broad.mit.edu 37 4 73179451 73179451 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:73179451C>G uc003hgk.1 - 12 1725 c.1688G>C c.(1687-1689)TGT>TCT p.C563S ADAMTS3_uc003hgl.2_5'Flank NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 563 TSP type-1 1. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGTCCGAGAACAGGAGCCAAA 0.423 NaN 0 0 0 1 0 21 43 SHROOM3 57619 broad.mit.edu 37 4 77660799 77660799 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:77660799C>A uc011cbx.1 + 5 2426 c.1473C>A c.(1471-1473)CTC>CTA p.L491L SHROOM3_uc011cbz.1_Silent_p.L315L|SHROOM3_uc003hkf.1_Silent_p.L366L|SHROOM3_uc003hkg.2_Silent_p.L269L NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 491 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) ACGGTATGCTCTACCCTGCAC 0.562 NaN 1 0 9.16793e-09 1 9.97547e-09 16 86 SEPT11 55752 broad.mit.edu 37 4 77933056 77933056 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:77933056G>C uc003hkj.2 + 4 669 c.507G>C c.(505-507)ATG>ATC p.M169I SEPT11_uc010ijh.1_Missense_Mutation_p.M161I|SEPT11_uc011cca.1_Missense_Mutation_p.M179I|SEPT11_uc003hkk.1_5'Flank NM_018243 NP_060713 Q9NVA2 SEP11_HUMAN septin 11 169 cell cycle|cell division|protein heterooligomerization axon|cell junction|dendritic spine|septin complex|stress fiber|synapse GTP binding|protein binding 0 TGGTCACCATGAAAAAGCTGG 0.433 NaN 0 0 0 1 0 12 74 SEPT11 55752 broad.mit.edu 37 4 77941663 77941663 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:77941663G>A uc003hkj.2 + 7 955 c.793G>A c.(793-795)GAA>AAA p.E265K SEPT11_uc010ijh.1_Missense_Mutation_p.E257K|SEPT11_uc011cca.1_Missense_Mutation_p.E275K|SEPT11_uc003hkk.1_Missense_Mutation_p.E65K NM_018243 NP_060713 Q9NVA2 SEP11_HUMAN septin 11 265 cell cycle|cell division|protein heterooligomerization axon|cell junction|dendritic spine|septin complex|stress fiber|synapse GTP binding|protein binding 0 AGTTGAGAATGAAAATCATTG 0.458 NaN 0 0 0 1 0 13 93 SEC31A 22872 broad.mit.edu 37 4 83788011 83788011 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:83788011G>A uc003hnf.2 - 10 1311 c.1147C>T c.(1147-1149)CTG>TTG p.L383L SEC31A_uc003hne.2_Silent_p.L155L|SEC31A_uc011ccl.1_Silent_p.L383L|SEC31A_uc003hnl.2_Silent_p.L383L|SEC31A_uc003hng.2_Silent_p.L383L|SEC31A_uc003hnh.2_Silent_p.L383L|SEC31A_uc003hni.2_Silent_p.L383L|SEC31A_uc003hnj.2_Silent_p.L383L|SEC31A_uc011ccm.1_Silent_p.L378L|SEC31A_uc011ccn.1_Silent_p.L383L|SEC31A_uc003hnk.2_Silent_p.L383L|SEC31A_uc003hnm.2_Silent_p.L383L|SEC31A_uc003hnn.1_Silent_p.L383L|SEC31A_uc003hno.2_Silent_p.L383L NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 383 Interaction with SEC13. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) GGCTTCTTCAGAGGCAGCACT 0.458 NaN 0 0 0 1 0 43 135 CDS1 1040 broad.mit.edu 37 4 85556483 85556483 + Missense_Mutation SNP T T G rs141889582 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:85556483T>G uc011ccv.1 + 8 1287 c.789T>G c.(787-789)TTT>TTG p.F263L CDS1_uc010ike.1_Missense_Mutation_p.F67L NM_001263 NP_001254 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase 1 263 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity p.G264fs*7(2) large_intestine(2)|ovary(1)|breast(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) GATTTTTTTTTGGGAGAACTC 0.318 NaN 0 0 0 1 0 15 85 AFF1 4299 broad.mit.edu 37 4 88036295 88036295 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:88036295G>A uc003hqj.3 + 11 2696 c.2289G>A c.(2287-2289)GTG>GTA p.V763V AFF1_uc011ccz.1_Silent_p.V770V|AFF1_uc003hqk.3_Silent_p.V763V|AFF1_uc011cda.1_Silent_p.V401V NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 763 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) GCTTGATGGTGAAGATCACCC 0.592 NaN 0 0 0 1 0 15 61 SPARCL1 8404 broad.mit.edu 37 4 88394928 88394928 + Nonstop_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:88394928C>G uc010ikm.2 - 12 2566 c.1994G>C c.(1993-1995)TGA>TCA p.*665S SPARCL1_uc011cdc.1_Nonstop_Mutation_p.*540S|SPARCL1_uc003hqs.3_Nonstop_Mutation_p.*665S|SPARCL1_uc011cdd.1_Nonstop_Mutation_p.*540S NM_001128310 NP_001121782 Q14515 SPRL1_HUMAN SPARC-like 1 precursor 665 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.00118) AATCTTCGTTCAAAACAAGAG 0.323 NaN 0 0 0 1 0 15 93 ADH1B 125 broad.mit.edu 37 4 100235088 100235088 + Missense_Mutation SNP C C T rs75973598 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:100235088C>T uc003hus.3 - 6 802 c.718G>A c.(718-720)GAA>AAA p.E240K ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.E200K|ADH1B_uc011ceh.1_Missense_Mutation_p.E85K|ADH1B_uc011cei.1_Missense_Mutation_p.E200K NM_000668 NP_000659 P00325 ADH1B_HUMAN class I alcohol dehydrogenase, beta subunit 240 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding ovary(1)|breast(1) 2 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TTGATGCATTCAGTGGCACCC 0.468 NaN 0 0 0 1 0 77 427 TACR3 6870 broad.mit.edu 37 4 104640753 104640753 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:104640753G>A uc003hxe.1 - 1 223 c.80C>T c.(79-81)TCG>TTG p.S27L NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 27 Extracellular (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GGCAGCTAGCGAGGCGGTCAG 0.682 NaN 0 0 0 1 0 7 49 TBCK 93627 broad.mit.edu 37 4 107165844 107165844 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:107165844C>T uc010ilv.2 - 11 1374 c.1009G>A c.(1009-1011)GAG>AAG p.E337K TBCK_uc003hyb.2_Missense_Mutation_p.E80K|TBCK_uc003hye.2_Missense_Mutation_p.E298K|TBCK_uc003hyc.2_Missense_Mutation_p.E274K|TBCK_uc003hyd.2_Missense_Mutation_p.E165K|TBCK_uc003hyf.2_Missense_Mutation_p.E337K NM_001163435 NP_001156907 Q8TEA7 TBCK_HUMAN TBC domain-containing protein kinase-like 337 intracellular Rab GTPase activator activity large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1) 5 AGCTCTTTCTCCAAGTCACCT 0.353 NaN 0 0 0 1 0 21 71 KIAA1109 84162 broad.mit.edu 37 4 123118351 123118351 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:123118351G>C uc003ieh.2 + 11 1255 c.1210G>C c.(1210-1212)GAA>CAA p.E404Q KIAA1109_uc003iei.1_Missense_Mutation_p.E158Q|KIAA1109_uc010ins.1_5'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 404 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 CTTTTGGTAGGAAACAAATGC 0.249 NaN 0 0 0 1 0 16 49 FAT4 79633 broad.mit.edu 37 4 126367492 126367492 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:126367492C>T uc003ifj.3 + 8 7238 c.7238C>T c.(7237-7239)TCG>TTG p.S2413L FAT4_uc011cgp.1_Missense_Mutation_p.S711L|FAT4_uc003ifi.1_5'Flank NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2413 Cadherin 23.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ATCAACCCATCGACAGGACAA 0.408 NaN 0 0 0 1 0 15 109 PCDH18 54510 broad.mit.edu 37 4 138452282 138452282 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:138452282C>T uc003ihe.3 - 1 1348 c.961G>A c.(961-963)GAG>AAG p.E321K PCDH18_uc003ihf.3_Missense_Mutation_p.E314K|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.E101K|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 321 Cadherin 3.|Extracellular (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) ACATCAATCTCATAGGATTTG 0.343 NaN 0 0 0 1 0 10 58 TBC1D9 23158 broad.mit.edu 37 4 141677148 141677148 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:141677148C>T uc010ioj.2 - 1 324 c.52G>A c.(52-54)GAG>AAG p.E18K NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 18 intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TTGGCCCTCTCGGTGATCCAC 0.701 NaN 0 0 0 1 0 5 12 PRMT10 90826 broad.mit.edu 37 4 148575400 148575400 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:148575400G>C uc003ilc.2 - 9 1790 c.1648C>G c.(1648-1650)CCA>GCA p.P550A PRMT10_uc003ilb.2_Missense_Mutation_p.P194A|PRMT10_uc003ild.2_Missense_Mutation_p.P437A NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 550 cytoplasm binding|protein methyltransferase activity ovary(1)|central_nervous_system(1) 2 AGTTTCTCTGGAGTCAGTGAA 0.388 NaN 0 0 0 1 0 31 95 FHDC1 85462 broad.mit.edu 37 4 153896615 153896615 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:153896615G>A uc003inf.2 + 11 2247 c.2172G>A c.(2170-2172)CTG>CTA p.L724L NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 724 actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) GCAGCAGCCTGACACCCATGG 0.637 NaN 0 0 0 1 0 18 17 GLRB 2743 broad.mit.edu 37 4 158074052 158074052 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:158074052G>A uc003ipj.2 + 9 1289 c.1087G>A c.(1087-1089)GAA>AAA p.E363K NM_000824 NP_000815 P48167 GLRB_HUMAN glycine receptor, beta isoform A precursor 363 Cytoplasmic (Probable). nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity skin(2) 2 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) GGTTGAAGCTGAAAAAGCCAG 0.448 NaN 0 0 0 1 0 27 54 GRIA2 2891 broad.mit.edu 37 4 158255240 158255240 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:158255240G>C uc003ipm.3 + 9 1693 c.1234G>C c.(1234-1236)GAG>CAG p.E412Q GRIA2_uc011cit.1_Missense_Mutation_p.E365Q|GRIA2_uc003ipl.3_Missense_Mutation_p.E412Q|GRIA2_uc003ipk.3_Missense_Mutation_p.E365Q|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 412 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CTCTGGGCTTGAGAATAAGAC 0.403 NaN 0 0 0 1 0 10 78 FAM198B 51313 broad.mit.edu 37 4 159092464 159092464 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:159092464G>A uc003ipp.3 - 2 516 c.64C>T c.(64-66)CGG>TGG p.R22W uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.R22W|FAM198B_uc003ipr.3_Missense_Mutation_p.R22W|FAM198B_uc003ips.2_Missense_Mutation_p.R22W|uc003ipt.1_RNA NM_016613 NP_057697 Q6UWH4 F198B_HUMAN hypothetical protein LOC51313 isoform 2 22 Cytoplasmic (Potential). Golgi membrane|integral to membrane 0 TTACGCACCCGCGGGACGCAC 0.587 NaN 0 0 0 1 0 26 50 GLRA3 8001 broad.mit.edu 37 4 175649820 175649820 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:175649820C>G uc003ity.1 - 4 800 c.297G>C c.(295-297)CAG>CAC p.Q99H GLRA3_uc003itz.1_Missense_Mutation_p.Q99H NM_006529 NP_006520 O75311 GLRA3_HUMAN glycine receptor, alpha 3 isoform a 99 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(3) 3 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) CATTCCATTTCTGACGAAGAA 0.378 NaN 0 0 0 1 0 15 89 WDR17 116966 broad.mit.edu 37 4 177098691 177098691 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:177098691G>C uc003iuj.2 + 30 3891 c.3735G>C c.(3733-3735)AAG>AAC p.K1245N WDR17_uc003iuk.2_Missense_Mutation_p.K1221N|WDR17_uc003ium.3_Missense_Mutation_p.K1206N|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.K456N NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 1245 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CTTTATTAAAGAGACTAAAAG 0.328 NaN 0 0 0 1 0 16 92 C4orf41 60684 broad.mit.edu 37 4 184605510 184605510 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:184605510G>A uc003ivx.2 + 14 1595 c.1419G>A c.(1417-1419)TTG>TTA p.L473L C4orf41_uc003ivw.2_Silent_p.L473L|C4orf41_uc010isc.2_Intron|C4orf41_uc003ivy.2_Silent_p.L79L NM_021942 NP_068761 Q7Z392 CD041_HUMAN hypothetical protein LOC60684 isoform a 473 0 all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171) CCAAAGCTTTGAAGTGAGTCC 0.303 NaN 0 0 0 1 0 23 42 TLR3 7098 broad.mit.edu 37 4 187005024 187005024 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr4:187005024G>C uc003iyq.2 + 4 2285 c.2184G>C c.(2182-2184)TGG>TGC p.W728C TLR3_uc011ckz.1_Missense_Mutation_p.W451C|TLR3_uc003iyr.2_Missense_Mutation_p.W451C NM_003265 NP_003256 O15455 TLR3_HUMAN toll-like receptor 3 precursor 728 Cytoplasmic (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity ovary(2)|prostate(1)|lung(1)|breast(1) 5 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TTGAGGGCTGGAGGATATCTT 0.358 NaN 0 0 0 1 0 78 132 KIAA0947 23379 broad.mit.edu 37 5 5462600 5462600 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:5462600G>A uc003jdm.3 + 13 3375 c.3153G>A c.(3151-3153)TTG>TTA p.L1051L NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1051 ovary(1)|central_nervous_system(1) 2 TTTGGAAATTGAAATCTACAA 0.463 NaN 0 0 0 1 0 40 140 CDH10 1008 broad.mit.edu 37 5 24535867 24535867 + Silent SNP T T C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:24535867T>C uc003jgr.1 - 4 923 c.591A>G c.(589-591)AGA>AGG p.R197R CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 197 Cadherin 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TGTAAATGACTCTGGCGCTGT 0.443 NaN HNSCC(23;0.051) 0 0 0 1 0 9 86 ADAMTS12 81792 broad.mit.edu 37 5 33662105 33662105 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:33662105G>C uc003jia.1 - 6 1119 c.956C>G c.(955-957)TCT>TGT p.S319C ADAMTS12_uc010iuq.1_Missense_Mutation_p.S319C NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 319 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GCAGAAGCTAGACAGTGTCTT 0.488 NaN HNSCC(64;0.19) 0 0 0 1 0 31 69 ADAMTS12 81792 broad.mit.edu 37 5 33662118 33662118 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:33662118C>T uc003jia.1 - 6 1106 c.943G>A c.(943-945)GAA>AAA p.E315K ADAMTS12_uc010iuq.1_Missense_Mutation_p.E315K NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 315 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 AGTGTCTTTTCTGCATGGTGA 0.473 NaN HNSCC(64;0.19) 0 0 0 1 0 23 75 TTC23L 153657 broad.mit.edu 37 5 34867123 34867123 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:34867123G>A uc003jiu.2 + 7 892 c.789G>A c.(787-789)CAG>CAA p.Q263Q TTC23L_uc003jiv.2_Silent_p.Q70Q|TTC23L_uc010iut.1_Silent_p.Q70Q NM_144725 NP_653326 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 263 Potential. binding central_nervous_system(1) 1 AAGCTGCTCAGATAGAGCAGC 0.547 NaN 0 0 0 1 0 5 18 LMBRD2 92255 broad.mit.edu 37 5 36141289 36141289 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:36141289G>A uc003jkb.1 - 4 703 c.288C>T c.(286-288)TTC>TTT p.F96F NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 96 Extracellular (Potential). integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCCATGGCTTGAAACAAGGAT 0.333 NaN 0 0 0 1 0 11 65 LIFR 3977 broad.mit.edu 37 5 38481806 38481806 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:38481806G>A uc010ive.1 - 20 3517 c.3185C>T c.(3184-3186)TCC>TTC p.S1062F LIFR_uc003jli.2_Missense_Mutation_p.S1062F NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 1062 Cytoplasmic (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) GGAATTAATGGAGCATGGACT 0.403 NaN T PLAG1 salivary adenoma 0 0 0 1 0 20 203 CCNB1 891 broad.mit.edu 37 5 68473423 68473423 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:68473423G>C uc003jvm.2 + 9 1444 c.1267G>C c.(1267-1269)GTT>CTT p.V423L CCNB1_uc010ixb.2_Missense_Mutation_p.V386L NM_031966 NP_114172 P14635 CCNB1_HUMAN cyclin B1 423 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole 0 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) TTCTGCACTAGTTCAAGATTT 0.393 NaN 0 0 0 1 0 52 56 MCCC2 64087 broad.mit.edu 37 5 70928012 70928012 + Missense_Mutation SNP G G A rs119103223 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:70928012G>A uc003kbs.3 + 8 941 c.803G>A c.(802-804)AGA>AAA p.R268K MCCC2_uc010iyv.1_Missense_Mutation_p.R268K|MCCC2_uc003kbt.3_RNA|MCCC2_uc003kbu.1_Missense_Mutation_p.R137K NM_022132 NP_071415 Q9HCC0 MCCB_HUMAN methylcrotonoyl-Coenzyme A carboxylase 2 (beta) 268 Carboxyltransferase. R -> T (in MCC2 deficiency; asymptomatic form). leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity ovary(1) 1 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) CTTCATTGCAGGTGAAACAGA 0.398 NaN 0 0 0 1 0 33 47 HMGCR 3156 broad.mit.edu 37 5 74643117 74643117 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:74643117G>A uc003kdp.2 + 6 695 c.539G>A c.(538-540)GGA>GAA p.G180E HMGCR_uc011cst.1_Missense_Mutation_p.G200E|HMGCR_uc003kdq.2_Missense_Mutation_p.G180E|HMGCR_uc010izn.1_Missense_Mutation_p.G20E NM_000859 NP_000850 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-Coenzyme A reductase 180 Helical; (Potential). cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding ovary(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) CTTGTGATTGGAGTTGGTACC 0.353 NaN 0 0 0 1 0 79 84 TBCA 6902 broad.mit.edu 37 5 76989151 76989151 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:76989151C>A uc003kfh.1 - 3 290 c.186G>T c.(184-186)ATG>ATT p.M62I TBCA_uc003kfi.1_Missense_Mutation_p.M62I NM_004607 NP_004598 O75347 TBCA_HUMAN tubulin-specific chaperone a 62 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly cytoplasm|microtubule chaperone binding|unfolded protein binding ovary(1) 1 all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40) CTGGGATCATCATCCTGGATT 0.403 NaN 1 0 1.58986e-06 1 1.6848e-06 9 26 ERAP2 64167 broad.mit.edu 37 5 96215522 96215522 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:96215522C>T uc003kmq.2 + 2 843 c.133C>T c.(133-135)CAC>TAC p.H45Y uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.H45Y|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.H39Y|ERAP2_uc003kmu.2_RNA NM_022350 NP_071745 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 45 Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding 0 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) ATCTAGTTATCACTTCACTGA 0.458 NaN 0 0 0 1 0 14 39 HSPA4 3308 broad.mit.edu 37 5 132424172 132424172 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:132424172C>T uc003kyj.2 + 9 1343 c.1062C>T c.(1060-1062)ATC>ATT p.I354I NM_002154 NP_002145 P34932 HSP74_HUMAN heat shock 70kDa protein 4 354 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding lung(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAGAGAAGATCAGCAAATTTT 0.358 NaN 0 0 0 1 0 24 36 HSPA4 3308 broad.mit.edu 37 5 132424226 132424226 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:132424226C>G uc003kyj.2 + 9 1397 c.1116C>G c.(1114-1116)GTC>GTG p.V372V NM_002154 NP_002145 P34932 HSP74_HUMAN heat shock 70kDa protein 4 372 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding lung(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATGAAGCTGTCACTCGAGGCT 0.368 NaN 0 0 0 1 0 33 44 MYOT 9499 broad.mit.edu 37 5 137213275 137213275 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:137213275C>G uc011cye.1 + 4 615 c.598C>G c.(598-600)CAA>GAA p.Q200E MYOT_uc003lbv.2_Missense_Mutation_p.Q200E|MYOT_uc011cyg.1_Missense_Mutation_p.Q16E|MYOT_uc011cyh.1_Missense_Mutation_p.Q85E NM_001135940 NP_001129412 Q9UBF9 MYOTI_HUMAN myotilin isoform b 200 muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle large_intestine(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TGCTGTGTTTCAAGCTCAGGA 0.388 NaN 0 0 0 1 0 13 50 NME5 8382 broad.mit.edu 37 5 137474391 137474391 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:137474391C>T uc003lce.2 - 2 157 c.79G>A c.(79-81)GAG>AAG p.E27K BRD8_uc003lcc.1_Intron NM_003551 NP_003542 P56597 NDK5_HUMAN non-metastatic cells 5, protein expressed in 27 anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process ATP binding|nucleoside diphosphate kinase activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ATCTCCTCCTCTTTGTCAACA 0.378 NaN 0 0 0 1 0 18 30 CDC25C 995 broad.mit.edu 37 5 137622209 137622209 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:137622209G>A uc003lcp.1 - 12 1408 c.1137C>T c.(1135-1137)TTC>TTT p.F379F CDC25C_uc003lcq.1_Silent_p.F306F|CDC25C_uc003lcr.1_Silent_p.F379F|CDC25C_uc011cyp.1_Silent_p.F396F|CDC25C_uc003lcs.1_Silent_p.F457F NM_001790 NP_001781 P30307 MPIP3_HUMAN cell division cycle 25C isoform a 379 HIV-1 Vpr binding site.|Rhodanese. cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding lung(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TCTCTGAGGAGAATTCACAGT 0.468 NaN 0 0 0 1 0 16 48 PCDHB13 56123 broad.mit.edu 37 5 140594200 140594200 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:140594200G>A uc003lja.1 + 1 692 c.505G>A c.(505-507)GAG>AAG p.E169K NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 169 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAACAATATTGAGAACTATAT 0.478 NaN 0 0 0 1 0 37 53 SH3RF2 153769 broad.mit.edu 37 5 145442003 145442003 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:145442003G>T uc003lnt.2 + 10 2167 c.1929G>T c.(1927-1929)GTG>GTT p.V643V SH3RF2_uc011dbl.1_Silent_p.V643V|SH3RF2_uc003lnu.2_Silent_p.V134V|SH3RF2_uc011dbn.1_Silent_p.V134V|SH3RF2_uc011dbo.1_Silent_p.V100V NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 643 Interaction with PPP1CA. V->G: Significant loss of interaction with PPP1CA. Significant loss of interaction with PPP1CA; when associated with G-645. ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCAAAACCGTGAGATTTCAGA 0.522 NaN 1 0 1.10513e-12 1 1.24661e-12 22 113 AFAP1L1 134265 broad.mit.edu 37 5 148687015 148687015 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:148687015G>C uc003lqh.2 + 7 717 c.586G>C c.(586-588)GAG>CAG p.E196Q AFAP1L1_uc003lqg.3_Missense_Mutation_p.E196Q|AFAP1L1_uc010jgy.2_Missense_Mutation_p.E196Q NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 196 Poly-Glu. protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGATGAAGAGGAGGAGGAAGG 0.587 NaN 0 0 0 1 0 15 86 FAT2 2196 broad.mit.edu 37 5 150901233 150901233 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:150901233C>T uc003lue.3 - 18 10934 c.10921G>A c.(10921-10923)GAG>AAG p.E3641K GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.E334K NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3641 Cadherin 32.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCAGCTCCTCGGGGGTGAGC 0.607 NaN 0 0 0 1 0 8 35 GEMIN5 25929 broad.mit.edu 37 5 154272068 154272068 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:154272068C>T uc003lvx.3 - 25 3722 c.3639G>A c.(3637-3639)CTG>CTA p.L1213L GEMIN5_uc011ddk.1_Silent_p.L1212L NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN gemin 5 1213 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding skin(2)|ovary(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCTGTTGGCTCAGCACTGCCA 0.587 NaN 0 0 0 1 0 9 40 TIMD4 91937 broad.mit.edu 37 5 156375436 156375436 + Nonsense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:156375436G>A uc003lwh.2 - 5 892 c.835C>T c.(835-837)CAG>TAG p.Q279* TIMD4_uc010jii.2_Intron NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 279 Extracellular (Potential). integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTCCAGGCTGAGGAGAAGAC 0.323 NaN 0 0 0 1 0 8 11 DOCK2 1794 broad.mit.edu 37 5 169469046 169469046 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:169469046C>T uc003maf.2 + 38 3866 c.3786C>T c.(3784-3786)GTC>GTT p.V1262V DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.V754V NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1262 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CATCACAGGTCATGCAGACAG 0.542 NaN 0 0 0 1 0 9 8 CLTB 1212 broad.mit.edu 37 5 175843355 175843355 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr5:175843355C>T uc003meh.2 - 2 185 c.10G>A c.(10-12)GAC>AAC p.D4N CLTB_uc003mei.2_Missense_Mutation_p.D4N|CLTB_uc011dfn.1_RNA NM_007097 NP_009028 P09497 CLCB_HUMAN clathrin, light polypeptide isoform b 4 intracellular protein transport|vesicle-mediated transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle protein binding|structural molecule activity 0 all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.098) AAGCCAAAGTCATCAGCCATT 0.741 NaN 0 0 0 1 0 6 15 IRF4 3662 broad.mit.edu 37 6 401636 401636 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:401636G>C uc003msz.3 + 7 1071 c.958G>C c.(958-960)GCC>CCC p.A320P IRF4_uc010jne.1_Missense_Mutation_p.A320P|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.A319P|IRF4_uc003mtc.1_Missense_Mutation_p.A150P NM_002460 NP_002451 Q15306 IRF4_HUMAN interferon regulatory factor 4 320 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) CCTCTGGATGGCCCCCGACGG 0.612 NaN T IGH@ MM 0 0 0 1 0 7 19 FOXQ1 94234 broad.mit.edu 37 6 1313343 1313343 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS RNASeq Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:1313343C>T uc003mtl.3 + 1 669 c.404C>T c.(403-405)TCG>TTG p.S135L NM_033260 NP_150285 Q9C009 FOXQ1_HUMAN forkhead box Q1 135 Fork-head. DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding 0 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) ATCCGCGACTCGGCGGGCGGG 0.592 NaN 0 0 0 1 0 10 20 NRN1 51299 broad.mit.edu 37 6 5999356 5999356 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:5999356C>T uc003mwu.2 - 3 933 c.282G>A c.(280-282)CTG>CTA p.L94L NRN1_uc003mwt.2_Silent_p.L120L NM_016588 NP_057672 Q9NPD7 NRN1_HUMAN neuritin precursor 94 anchored to membrane|plasma membrane 0 Ovarian(93;0.0816) all_hematologic(90;0.151) OV - Ovarian serous cystadenocarcinoma(45;0.00415) ATTCTTTTCTCAGTTTATCCC 0.562 NaN 0 0 0 1 0 6 43 ATXN1 6310 broad.mit.edu 37 6 16327637 16327637 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:16327637G>A uc003nbt.2 - 8 1876 c.905C>T c.(904-906)CCT>CTT p.P302L ATXN1_uc010jpi.2_Missense_Mutation_p.P302L|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 302 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GGCCTCCCGAGGGACAAAGTG 0.657 NaN 0 0 0 1 0 8 48 NUP153 9972 broad.mit.edu 37 6 17626341 17626341 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:17626341G>A uc003ncd.1 - 19 3799 c.3599C>T c.(3598-3600)TCA>TTA p.S1200L NUP153_uc011dje.1_Missense_Mutation_p.S1231L|NUP153_uc010jpl.1_Missense_Mutation_p.S1158L NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 1200 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) TGGTGTACTTGAACTAGAGGA 0.418 NaN 0 0 0 1 0 20 29 KIF13A 63971 broad.mit.edu 37 6 17790135 17790135 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:17790135C>G uc003ncg.3 - 26 3334 c.3229G>C c.(3229-3231)GAT>CAT p.D1077H KIF13A_uc003ncf.2_Intron|KIF13A_uc003nch.3_Missense_Mutation_p.D1077H|KIF13A_uc003nci.3_Intron NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 1077 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CCATCCTCATCATCTCTCTGG 0.383 NaN 0 0 0 1 0 10 22 KIF13A 63971 broad.mit.edu 37 6 17855761 17855761 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:17855761G>C uc003ncg.3 - 6 506 c.401C>G c.(400-402)TCT>TGT p.S134C KIF13A_uc003ncf.2_Missense_Mutation_p.S134C|KIF13A_uc003nch.3_Missense_Mutation_p.S134C|KIF13A_uc003nci.3_Missense_Mutation_p.S134C NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 134 Kinesin-motor. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTGCTCCAAAGAGATCCTTTT 0.423 NaN 0 0 0 1 0 14 43 LRRC16A 55604 broad.mit.edu 37 6 25466165 25466165 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:25466165G>A uc011djw.1 + 9 1055 c.679G>A c.(679-681)GAT>AAT p.D227N LRRC16A_uc010jpx.2_Missense_Mutation_p.D227N|LRRC16A_uc010jpy.2_Missense_Mutation_p.D227N|LRRC16A_uc003nez.1_Missense_Mutation_p.D66N NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 227 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 GTCCTCTAAGGATCTAAAACT 0.363 NaN 0 0 0 1 0 17 91 SLC17A1 6568 broad.mit.edu 37 6 25811931 25811931 + Nonsense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:25811931G>C uc003nfh.3 - 9 1081 c.965C>G c.(964-966)TCA>TGA p.S322* SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.S320*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.S266* NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), 322 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 GAAGAAGTCTGATAACTGACC 0.448 NaN 0 0 0 1 0 22 65 BTN1A1 696 broad.mit.edu 37 6 26508758 26508758 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:26508758C>T uc003nif.3 + 7 957 c.937C>T c.(937-939)CAT>TAT p.H313Y NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 313 B30.2/SPRY.|Cytoplasmic (Potential). extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 AGACACAGCTCATCCCCACCT 0.463 NaN 0 0 0 1 0 98 191 PGBD1 84547 broad.mit.edu 37 6 28264604 28264604 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:28264604G>C uc003nky.2 + 5 1024 c.654G>C c.(652-654)AAG>AAC p.K218N PGBD1_uc003nkz.2_Missense_Mutation_p.K218N NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 218 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 CATTGGTGAAGACTGAGGAAG 0.463 NaN 0 0 0 1 0 13 79 PPP1R10 5514 broad.mit.edu 37 6 30576867 30576867 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:30576867C>T uc003nqn.1 - 4 733 c.181G>A c.(181-183)GAA>AAA p.E61K PPP1R10_uc010jsc.1_5'UTR NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 61 Interaction with TOX4 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding ovary(2)|lung(1)|kidney(1) 4 ACCAATATTTCTGGTGAACGG 0.483 NaN 0 0 0 1 0 14 56 DHX16 8449 broad.mit.edu 37 6 30627868 30627868 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:30627868C>T uc003nqz.2 - 10 1908 c.1696G>A c.(1696-1698)GAC>AAC p.D566N DHX16_uc003nqy.2_Missense_Mutation_p.D85N|DHX16_uc011dmo.1_Missense_Mutation_p.D506N NM_003587 NP_003578 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 566 Helicase ATP-binding. mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(2)|kidney(2) 4 ACAGGGGCGTCATCAAAGAAG 0.542 NaN 0 0 0 1 0 20 69 BAT2 7916 broad.mit.edu 37 6 31594883 31594883 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:31594883G>A uc003nvb.3 + 11 1447 c.1198G>A c.(1198-1200)GAG>AAG p.E400K BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.E400K NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 400 4 X 57 AA type A repeats.|2 X type B repeats.|2-1. cytoplasm|nucleus protein binding 0 TCGGCCTCCAGAGACAGAGCC 0.672 NaN 0 0 0 1 0 11 44 TNXB 7148 broad.mit.edu 37 6 32036422 32036422 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:32036422G>A uc003nzl.2 - 17 6167 c.5965C>T c.(5965-5967)CGC>TGC p.R1989C NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2071 Fibronectin type-III 13. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TCCCCCAGGCGAGGCTTGATG 0.622 NaN 0 0 0 1 0 16 51 ATF6B 1388 broad.mit.edu 37 6 32094926 32094926 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:32094926G>A uc003nzn.2 - 4 329 c.296C>T c.(295-297)TCC>TTC p.S99F ATF6B_uc003nzo.2_Missense_Mutation_p.S96F|ATF6B_uc011dpg.1_Missense_Mutation_p.S33F|ATF6B_uc011dph.1_Missense_Mutation_p.S99F NM_004381 NP_004372 Q99941 ATF6B_HUMAN activating transcription factor 6 beta isoform 99 Cytoplasmic (Potential).|Poly-Ser. response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGAGCTGAGGGAGGAGGAAGA 0.527 NaN 0 0 0 1 0 6 17 PBX2 5089 broad.mit.edu 37 6 32154464 32154464 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:32154464C>T uc003oav.1 - 8 1388 c.1117G>A c.(1117-1119)GAA>AAA p.E373K AGER_uc003oar.2_5'Flank|AGER_uc011dpm.1_5'Flank|AGER_uc011dpn.1_5'Flank|AGER_uc003oal.1_5'Flank|AGER_uc010jtv.1_5'Flank|AGER_uc011dpo.1_5'Flank|AGER_uc003oam.1_5'Flank|AGER_uc003oan.1_5'Flank|AGER_uc003oap.1_5'Flank|AGER_uc003oat.1_5'Flank|AGER_uc003oao.1_5'Flank|AGER_uc003oaq.1_5'Flank|AGER_uc010jtw.1_5'Flank|AGER_uc003oas.1_5'Flank|AGER_uc003oau.1_5'Flank|AGER_uc011dpp.1_5'Flank|AGER_uc011dpq.1_5'Flank|AGER_uc011dpr.1_5'Flank|AGER_uc011dps.1_5'Flank NM_002586 NP_002577 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 373 transcription factor binding ovary(1) 1 CGGAGTGATTCCACCTGCAGG 0.552 NaN 0 0 0 1 0 15 38 SYNGAP1 8831 broad.mit.edu 37 6 33411122 33411122 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:33411122C>T uc011dri.1 + 15 2988 c.2793C>T c.(2791-2793)CTC>CTT p.L931L SYNGAP1_uc010juy.2_Silent_p.L902L|SYNGAP1_uc010juz.2_Silent_p.L643L NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 931 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 AGAACCCTCTCTTCCACATGG 0.582 NaN 0 0 0 1 0 37 210 FTSJD2 23070 broad.mit.edu 37 6 37443108 37443108 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:37443108G>C uc003ons.2 + 19 2209 c.1956G>C c.(1954-1956)CAG>CAC p.Q652H NM_015050 NP_055865 Q8N1G2 MTR1_HUMAN FtsJ methyltransferase domain containing 2 652 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GGAAGGCCCAGAGGAAGATCA 0.592 NaN 0 0 0 1 0 6 24 TAF8 129685 broad.mit.edu 37 6 42019184 42019184 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:42019184G>A uc003ors.2 + 2 164 c.135G>A c.(133-135)CTG>CTA p.L45L CCND3_uc003orp.2_5'Flank|CCND3_uc011duk.1_5'Flank|CCND3_uc011dum.1_5'Flank|TAF8_uc003orr.2_Silent_p.L45L|TAF8_uc003ort.2_Silent_p.L45L|TAF8_uc003oru.1_Silent_p.L45L|TAF8_uc003orv.1_Silent_p.L45L|TAF8_uc011dun.1_5'UTR NM_138572 NP_612639 Q7Z7C8 TAF8_HUMAN TBP-associated factor 8 45 Histone-fold. cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent perinuclear region of cytoplasm|transcription factor TFIID complex DNA binding|protein binding ovary(1) 1 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179) GCTCCTTGCTGACAGAGGCAG 0.532 NaN 0 0 0 1 0 24 99 CDC5L 988 broad.mit.edu 37 6 44374146 44374146 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:44374146C>T uc003oxl.2 + 7 1104 c.845C>T c.(844-846)ACT>ATT p.T282I NM_001253 NP_001244 Q99459 CDC5L_HUMAN CDC5-like 282 Interaction with PPP1R8. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding lung(3)|ovary(1)|kidney(1)|skin(1) 6 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ATTCTTCAAACTAGTGGTGTT 0.318 NaN 0 0 0 1 0 29 122 TNFRSF21 27242 broad.mit.edu 37 6 47221041 47221041 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:47221041C>G uc003oyv.2 - 4 1893 c.1460G>C c.(1459-1461)AGA>ACA p.R487T NM_014452 NP_055267 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, 487 Cytoplasmic (Potential).|Death. cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity 0 Lung(136;0.189) AACATCGTTTCTCCGGTGCTG 0.617 NaN 0 0 0 1 0 4 18 C6orf138 442213 broad.mit.edu 37 6 47846150 47846150 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:47846150G>T uc011dwm.1 - 3 2464 c.2379C>A c.(2377-2379)TTC>TTA p.F793L C6orf138_uc011dwn.1_Missense_Mutation_p.F557L NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 810 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 TGGAAGGGGGGAAAAACGTTA 0.448 NaN 1 0 3.99206e-14 1 4.52745e-14 19 74 IL17A 3605 broad.mit.edu 37 6 52052468 52052468 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:52052468G>A uc003pak.1 + 2 140 c.95G>A c.(94-96)GGA>GAA p.G32E NM_002190 NP_002181 Q16552 IL17_HUMAN interleukin 17A precursor 32 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity 0 Lung NSC(77;0.116) CGAAATCCAGGATGCCCAAAT 0.493 NaN 0 0 0 1 0 95 146 LRRC1 55227 broad.mit.edu 37 6 53761655 53761655 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:53761655G>A uc003pcd.1 + 6 809 c.532G>A c.(532-534)GAA>AAA p.E178K NM_018214 NP_060684 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 178 LRR 8. cytoplasm|membrane ovary(1) 1 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) AAGACTAGAAGAACTTGATTT 0.313 NaN 0 0 0 1 0 14 44 HCRTR2 3062 broad.mit.edu 37 6 55142257 55142257 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:55142257C>T uc003pcl.2 + 5 1157 c.842C>T c.(841-843)CCA>CTA p.P281L HCRTR2_uc010jzv.2_RNA NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 281 Cytoplasmic (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CCAGGACAGCCAACGAAGTCC 0.517 NaN 0 0 0 1 0 9 37 DST 667 broad.mit.edu 37 6 56458793 56458793 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:56458793G>A uc003pdf.2 - 42 6065 c.6037C>T c.(6037-6039)CTG>TTG p.L2013L DST_uc003pcz.3_Silent_p.L1835L|DST_uc011dxj.1_Silent_p.L1864L|DST_uc011dxk.1_Silent_p.L1875L|DST_uc003pcy.3_Silent_p.L1509L|DST_uc010kaa.1_RNA NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 3921 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCTTCCTGCAGAGAGTGAGTT 0.413 NaN 0 0 0 1 0 9 51 KHDRBS2 202559 broad.mit.edu 37 6 62390905 62390905 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:62390905C>G uc003peg.2 - 9 1260 c.1013G>C c.(1012-1014)AGA>ACA p.R338T NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) GTATCCCCCTCTGGCTGACCT 0.493 NaN 0 0 0 1 0 6 35 CD109 135228 broad.mit.edu 37 6 74490221 74490221 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:74490221G>C uc003php.2 + 16 2327 c.1902G>C c.(1900-1902)CAG>CAC p.Q634H CD109_uc010kaz.2_Missense_Mutation_p.Q634H|CD109_uc003phq.2_Missense_Mutation_p.Q634H|CD109_uc010kba.2_Missense_Mutation_p.Q557H NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 634 Bait region (approximate) (By similarity). anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 CAGTCTTTCAGGTATGTTTTG 0.294 NaN 0 0 0 1 0 14 102 SENP6 26054 broad.mit.edu 37 6 76412689 76412689 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:76412689G>C uc003pid.3 + 19 3236 c.2617G>C c.(2617-2619)GAA>CAA p.E873Q SENP6_uc003pie.3_Missense_Mutation_p.E866Q|SENP6_uc010kbf.2_Intron NM_015571 NP_056386 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 isoform 1 873 Protease. proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1) 6 all_hematologic(105;0.189) TGAAAATGAAGAATTCAATAA 0.368 NaN 0 0 0 1 0 46 153 DOPEY1 23033 broad.mit.edu 37 6 83839159 83839159 + Nonsense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:83839159C>G uc003pjs.1 + 16 2533 c.2273C>G c.(2272-2274)TCA>TGA p.S758* DOPEY1_uc011dyy.1_Nonsense_Mutation_p.S749*|DOPEY1_uc010kbl.1_Nonsense_Mutation_p.S749* NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 758 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CTAGAGTGCTCAAGTTTCCCA 0.393 NaN 0 0 0 1 0 35 57 UBE2J1 51465 broad.mit.edu 37 6 90052151 90052151 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:90052151G>T uc010kcb.2 - 4 302 c.129C>A c.(127-129)TTC>TTA p.F43L UBE2J1_uc003pnc.2_Missense_Mutation_p.F43L NM_016021 NP_057105 Q9Y385 UB2J1_HUMAN ubiquitin-conjugating enzyme E2, J1 43 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity 0 all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0139) CTCTAACCGTGAAGTGCCATT 0.378 NaN 1 0 5.50884e-06 1 5.79878e-06 12 39 KLHL32 114792 broad.mit.edu 37 6 97489422 97489422 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:97489422G>A uc010kcm.1 + 4 731 c.259G>A c.(259-261)GGT>AGT p.G87S KLHL32_uc003poy.2_Missense_Mutation_p.G87S|KLHL32_uc011ead.1_Intron|KLHL32_uc003poz.2_5'UTR|KLHL32_uc011eae.1_Intron|KLHL32_uc003ppa.2_RNA NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 87 BTB. ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) TAATTTGCACGGTGTGACCAG 0.428 NaN 0 0 0 1 0 10 91 GRIK2 2898 broad.mit.edu 37 6 102503216 102503216 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:102503216C>G uc003pqp.3 + 15 2572 c.2323C>G c.(2323-2325)CGA>GGA p.R775G GRIK2_uc003pqo.3_Missense_Mutation_p.R775G|GRIK2_uc010kcw.2_Missense_Mutation_p.R775G NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 775 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TTCTCCATATCGAGACAAAAT 0.408 NaN 0 0 0 1 0 15 56 MICAL1 64780 broad.mit.edu 37 6 109769984 109769984 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:109769984C>A uc003ptj.2 - 11 1869 c.1615G>T c.(1615-1617)GAT>TAT p.D539Y MICAL1_uc003ptk.2_Missense_Mutation_p.D539Y|MICAL1_uc010kdr.2_Missense_Mutation_p.D453Y|MICAL1_uc011eaq.1_Missense_Mutation_p.D558Y NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 539 CH. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) GCTAGCCCATCAGCCCAGGAG 0.622 NaN 1 0 8.53417e-09 1 9.31001e-09 35 140 ECT2L 345930 broad.mit.edu 37 6 139183796 139183796 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:139183796C>G uc003qif.1 + 9 1334 c.1231C>G c.(1231-1233)CAA>GAA p.Q411E ECT2L_uc011edq.1_Missense_Mutation_p.Q342E NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 411 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 CCAGCTGTCTCAACTAACTGG 0.438 NaN 0 0 0 1 0 9 65 SASH1 23328 broad.mit.edu 37 6 148848652 148848652 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:148848652C>G uc003qme.1 + 12 1823 c.1348C>G c.(1348-1350)CTT>GTT p.L450V SASH1_uc011eeb.1_Missense_Mutation_p.L211V|SASH1_uc003qmf.1_5'UTR NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 450 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) TCGCATCTCTCTTGGGAAAAA 0.418 NaN 0 0 0 1 0 21 73 MTHFD1L 25902 broad.mit.edu 37 6 151270192 151270192 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:151270192C>T uc003qob.2 + 16 1917 c.1649C>T c.(1648-1650)CCG>CTG p.P550L MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.P551L|MTHFD1L_uc003qoc.2_Missense_Mutation_p.P498L NM_015440 NP_056255 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ 550 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity ovary(3)|large_intestine(1) 4 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) AAGACTGATCCGAGCACACTG 0.453 NaN 0 0 0 1 0 15 17 SYNE1 23345 broad.mit.edu 37 6 152642938 152642938 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:152642938G>A uc010kiw.2 - 83 16603 c.16001C>T c.(16000-16002)TCT>TTT p.S5334F SYNE1_uc003qot.3_Missense_Mutation_p.S5263F|SYNE1_uc003qou.3_Missense_Mutation_p.S5334F|SYNE1_uc010kiz.2_Missense_Mutation_p.S1089F NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5334 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ACATTTCACAGAATTGATCTG 0.398 NaN HNSCC(10;0.0054) 0 0 0 1 0 24 77 SYNE1 23345 broad.mit.edu 37 6 152719867 152719867 + Splice_Site SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:152719867C>G uc010kiw.2 - 49 7840 c.7238_splice c.e49-1 p.E2413_splice SYNE1_uc003qot.3_Splice_Site_p.E2420_splice|SYNE1_uc003qou.3_Splice_Site_p.E2413_splice|SYNE1_uc010kjb.1_Splice_Site_p.E2396_splice NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGCATAGACTCTTTTGAAAGa 0.368 NaN HNSCC(10;0.0054) 0 0 0 1 0 17 54 ARID1B 57492 broad.mit.edu 37 6 157528459 157528459 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:157528459G>T uc003qqn.2 + 20 6282 c.6130G>T c.(6130-6132)GAG>TAG p.E2044* ARID1B_uc003qqo.2_Nonsense_Mutation_p.E2004*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.E1991* NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 2049 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CCCGTCTGCAGAGGCACAAGA 0.532 NaN 1 0 8.69298e-16 1 9.90339e-16 42 110 IGF2R 3482 broad.mit.edu 37 6 160525708 160525708 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:160525708G>A uc003qta.2 + 48 7216 c.7068G>A c.(7066-7068)GTG>GTA p.V2356V NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 2356 Cytoplasmic (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CCTGGCAGGTGAATAAGGAAG 0.567 NaN 0 0 0 1 0 8 36 RPS6KA2 6196 broad.mit.edu 37 6 166864689 166864689 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:166864689G>A uc003qvb.1 - 13 1327 c.1108C>T c.(1108-1110)CAT>TAT p.H370Y RPS6KA2_uc011ego.1_Missense_Mutation_p.H281Y|RPS6KA2_uc010kkl.1_Missense_Mutation_p.H281Y|RPS6KA2_uc003qvc.1_Missense_Mutation_p.H378Y|RPS6KA2_uc003qvd.1_Missense_Mutation_p.H395Y NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 370 AGC-kinase C-terminal. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) AACAGGTGATGAGCGTTTGCA 0.547 NaN 0 0 0 1 0 21 39 RPS6KA2 6196 broad.mit.edu 37 6 166864716 166864716 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:166864716G>T uc003qvb.1 - 13 1300 c.1081C>A c.(1081-1083)CCT>ACT p.P361T RPS6KA2_uc011ego.1_Missense_Mutation_p.P272T|RPS6KA2_uc010kkl.1_Missense_Mutation_p.P272T|RPS6KA2_uc003qvc.1_Missense_Mutation_p.P369T|RPS6KA2_uc003qvd.1_Missense_Mutation_p.P386T NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 361 AGC-kinase C-terminal. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) GGGACGCCAGGAGAGTCTGTA 0.473 NaN 1 0 3.32936e-07 1 3.55508e-07 17 40 TTYH3 80727 broad.mit.edu 37 7 2686589 2686589 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:2686589G>A uc003smp.2 + 2 413 c.226G>A c.(226-228)GAG>AAG p.E76K TTYH3_uc010ksn.2_5'Flank|TTYH3_uc003smq.2_5'Flank NM_025250 NP_079526 Q9C0H2 TTYH3_HUMAN tweety 3 76 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) GCGCAAGAGCGAGGAGCACCT 0.582 NaN 0 0 0 1 0 4 10 RBAK 57786 broad.mit.edu 37 7 5105215 5105215 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:5105215G>C uc010kss.1 + 6 2452 c.2128G>C c.(2128-2130)GAT>CAT p.D710H LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.D710H NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 710 Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) GAACGTACTTGATGTGGAAAA 0.368 NaN 0 0 0 1 0 15 86 TNRC18 84629 broad.mit.edu 37 7 5352267 5352267 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:5352267C>G uc003soi.3 - 27 8604 c.8255G>C c.(8254-8256)AGA>ACA p.R2752T NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 2752 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GACGCCCTCTCTCTTCTTGGG 0.716 NaN 0 0 0 1 0 14 67 FBXL18 80028 broad.mit.edu 37 7 5540603 5540603 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:5540603C>T uc003soo.2 - 3 1391 c.1297G>A c.(1297-1299)GAC>AAC p.D433N FBXL18_uc003son.3_Missense_Mutation_p.D433N NM_024963 NP_079239 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 433 central_nervous_system(2)|ovary(1) 3 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) ggcgcgcggtcggcgcgcggc 0.562 NaN 0 0 0 1 0 5 11 AGR2 10551 broad.mit.edu 37 7 16841376 16841376 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:16841376G>C uc003str.2 - 2 232 c.45C>G c.(43-45)CTC>CTG p.L15L AGR2_uc011jxy.1_Silent_p.L15L NM_006408 NP_006399 O95994 AGR2_HUMAN anterior gradient 2 homolog precursor 15 mucus secretion endoplasmic reticulum|extracellular region protein binding 0 Lung NSC(10;0.0376)|all_lung(11;0.0855) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) GAGTGTAGGAGAGGGCCACAA 0.478 NaN 0 0 0 1 0 14 80 AHR 196 broad.mit.edu 37 7 17373647 17373647 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:17373647C>A uc011jxz.1 + 7 1430 c.817C>A c.(817-819)CAG>AAG p.Q273K AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 273 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) TACTCCACTTCAGCCACCATC 0.403 NaN 1 0 3.76869e-24 1 4.34849e-24 20 94 HDAC9 9734 broad.mit.edu 37 7 18801875 18801875 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:18801875G>T uc003suh.2 + 14 2171 c.2130G>T c.(2128-2130)CAG>CAT p.Q710H HDAC9_uc003sue.2_Missense_Mutation_p.Q710H|HDAC9_uc011jyd.1_Missense_Mutation_p.Q710H|HDAC9_uc003sui.2_Missense_Mutation_p.Q713H|HDAC9_uc003suj.2_Missense_Mutation_p.Q669H|HDAC9_uc003sua.1_Missense_Mutation_p.Q688H NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 710 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) TGGACGGACAGAAGCTGGACC 0.512 NaN 1 0 5.9392e-07 1 6.33113e-07 5 30 OSBPL3 26031 broad.mit.edu 37 7 24849449 24849449 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:24849449G>A uc003sxf.2 - 20 2699 c.2294C>T c.(2293-2295)TCT>TTT p.S765F OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.S729F|OSBPL3_uc003sxh.2_Missense_Mutation_p.S734F|OSBPL3_uc003sxi.2_Missense_Mutation_p.S698F NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 765 lipid transport lipid binding|protein binding skin(1) 1 ACAGGCAGAAGAGGAGCCGCC 0.547 NaN 0 0 0 1 0 29 55 SNX10 29887 broad.mit.edu 37 7 26412157 26412157 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:26412157G>A uc003sxx.2 + 7 786 c.571G>A c.(571-573)GGA>AGA p.G191R SNX10_uc011jzg.1_Missense_Mutation_p.G214R|SNX10_uc010kuu.2_Missense_Mutation_p.G191R|SNX10_uc010kuv.2_Missense_Mutation_p.G187R|SNX10_uc010kuw.2_Missense_Mutation_p.G107R NM_013322 NP_037454 Q9Y5X0 SNX10_HUMAN sorting nexin 10 191 cell communication|endosome organization|protein transport extrinsic to endosome membrane 1-phosphatidylinositol binding 0 CAGTTCACATGGATGTAAAGT 0.373 NaN 0 0 0 1 0 25 162 EVX1 2128 broad.mit.edu 37 7 27284678 27284678 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:27284678G>A uc003szd.1 + 2 925 c.439G>A c.(439-441)GAG>AAG p.E147K EVX1_uc011jzn.1_5'UTR|EVX1_uc010kuy.1_Silent_p.P128P NM_001989 NP_001980 P49640 EVX1_HUMAN even-skipped homeobox 1 147 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GTCCGGCTCCGAGGCGCTGGT 0.672 NaN 0 0 0 1 0 19 64 TAX1BP1 8887 broad.mit.edu 37 7 27831832 27831832 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:27831832G>A uc003szl.2 + 9 1404 c.1246G>A c.(1246-1248)GCT>ACT p.A416T TAX1BP1_uc011jzo.1_Missense_Mutation_p.A416T|TAX1BP1_uc003szk.2_Missense_Mutation_p.A416T|TAX1BP1_uc011jzp.1_Missense_Mutation_p.A259T NM_006024 NP_006015 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) 416 Oligomerization.|Potential. anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1) 1 GBM - Glioblastoma multiforme(3;0.0823) TAAACTAAATGCTATGAAAAA 0.353 NaN 0 0 0 1 0 7 24 PLEKHA8 84725 broad.mit.edu 37 7 30087570 30087570 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:30087570G>A uc003tam.1 + 4 527 c.436G>A c.(436-438)GAG>AAG p.E146K PLEKHA8_uc003tao.2_Missense_Mutation_p.E30K|PLEKHA8_uc003tap.1_Missense_Mutation_p.E146K|PLEKHA8_uc003tan.2_Missense_Mutation_p.E146K NM_032639 NP_116028 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A 146 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(3)|ovary(1) 4 GTCCAATTCTGAGGtaaaata 0.274 NaN 0 0 0 1 0 14 40 NT5C3 51251 broad.mit.edu 37 7 33057059 33057059 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:33057059C>T uc003tdk.2 - 7 777 c.700G>A c.(700-702)GAT>AAT p.D234N AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.D195N|NT5C3_uc003tdj.2_Missense_Mutation_p.D195N NM_001002010 NP_001002010 Q9H0P0 5NT3_HUMAN 5'-nucleotidase, cytosolic III isoform 1 234 nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol|endoplasmic reticulum 2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 GBM - Glioblastoma multiforme(11;0.0894) ACAGTTTCATCAAAATCCATA 0.254 NaN 0 0 0 1 0 13 50 POLM 27434 broad.mit.edu 37 7 44119254 44119254 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:44119254G>C uc003tjt.2 - 4 650 c.558C>G c.(556-558)CTC>CTG p.L186L POLM_uc003tju.2_Silent_p.L186L|POLM_uc003tjx.2_Silent_p.L186L|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Intron|POLM_uc003tka.1_5'Flank|POLM_uc003tjz.3_Silent_p.L186L|POLM_uc011kbu.1_Silent_p.L153L|POLM_uc010kxy.2_Silent_p.L186L NM_013284 NP_037416 Q9NP87 DPOLM_HUMAN DNA-directed DNA polymerase mu 186 DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 GAAGGGCCTTGAGCACCGAGG 0.627 NaN DNA_polymerases_(catalytic_subunits) 0 0 0 1 0 14 79 NPC1L1 29881 broad.mit.edu 37 7 44561680 44561680 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:44561680C>T uc003tlb.2 - 11 2855 c.2799G>A c.(2797-2799)AAG>AAA p.K933K NPC1L1_uc003tlc.2_Silent_p.K933K|NPC1L1_uc011kbw.1_Silent_p.K887K|NPC1L1_uc003tla.2_5'Flank NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 933 Cytoplasmic (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) CATACTGGATCTTCTGGGTGA 0.562 NaN 0 0 0 1 0 9 56 ZPBP 11055 broad.mit.edu 37 7 50070753 50070753 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:50070753G>C uc003tou.2 - 5 711 c.641C>G c.(640-642)TCT>TGT p.S214C ZPBP_uc011kci.1_Missense_Mutation_p.S140C|ZPBP_uc010kyw.2_Missense_Mutation_p.S213C NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 214 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) ATGGCATTCAGACTTAAGTAA 0.328 NaN 0 0 0 1 0 10 85 COBL 23242 broad.mit.edu 37 7 51092923 51092923 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:51092923G>C uc003tpr.3 - 12 3836 c.3651C>G c.(3649-3651)CTC>CTG p.L1217L COBL_uc003tps.2_Silent_p.L1227L|COBL_uc011kcl.1_Silent_p.L1170L|COBL_uc003tpp.3_Silent_p.L1003L|COBL_uc003tpq.3_Silent_p.L1111L|COBL_uc003tpo.3_Silent_p.L759L NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 1217 skin(3)|ovary(2) 5 Glioma(55;0.08) TTGGTGCAGAGAGAGCCTGGG 0.642 NaN 0 0 0 1 0 11 34 SBDS 51119 broad.mit.edu 37 7 66459252 66459252 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:66459252C>T uc003tvm.1 - 2 389 c.205G>A c.(205-207)GAA>AAA p.E69K TYW1_uc003tvn.2_5'Flank|TYW1_uc010lai.2_5'Flank NM_016038 NP_057122 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome protein 69 bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing cytoplasm|nucleolus|nucleoplasm|spindle pole microtubule binding|ribosome binding|rRNA binding ovary(1) 1 ATGAGATCTTCCTTTTTGGCA 0.438 NaN Gene Conversion AML|MDS Shwachman-Diamond_syndrome 0 0 0 1 0 21 201 POM121 9883 broad.mit.edu 37 7 72414059 72414059 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:72414059G>C uc003twk.2 + 11 3527 c.3527G>C c.(3526-3528)GGA>GCA p.G1176A POM121_uc003twj.2_Missense_Mutation_p.G911A|POM121_uc010lam.1_Missense_Mutation_p.G911A NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 1176 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) CCTGTGTTTGGAGGTAAGGAG 0.488 NaN 0 0 0 1 0 5 20 CROT 54677 broad.mit.edu 37 7 87006664 87006664 + Splice_Site SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:87006664G>A uc003uit.2 + 10 1122 c.877_splice c.e10-1 p.I293_splice CROT_uc003uiu.2_Splice_Site_p.I321_splice NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) ATTTATTTTAGATTATTGCAG 0.323 NaN 0 0 0 1 0 9 19 DBF4 10926 broad.mit.edu 37 7 87536669 87536669 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:87536669G>C uc003ujf.1 + 12 1720 c.1216G>C c.(1216-1218)GAA>CAA p.E406Q DBF4_uc003ujh.1_Missense_Mutation_p.E146Q|DBF4_uc003ujg.1_Missense_Mutation_p.E182Q|DBF4_uc011khf.1_Missense_Mutation_p.E173Q NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN activator of S phase kinase 406 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding lung(2) 2 Esophageal squamous(14;0.00202) Breast(660;0.0334) CCAGGAAACTGAAAAAAAGCT 0.383 NaN 0 0 0 1 0 12 84 MTERF 7978 broad.mit.edu 37 7 91503796 91503796 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:91503796C>T uc003ulb.1 - 2 356 c.312G>A c.(310-312)GAG>GAA p.E104E MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Silent_p.E104E|MTERF_uc011khm.1_Silent_p.E84E|MTERF_uc010leu.1_Silent_p.E84E NM_006980 NP_008911 Q99551 MTERF_HUMAN mitochondrial transcription termination factor 104 DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription mitochondrial nucleoid double-stranded DNA binding 0 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) TCAGGTCCTGCTCATTGGTAA 0.418 NaN 0 0 0 1 0 24 119 CYP3A7 1551 broad.mit.edu 37 7 99332708 99332708 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:99332708G>C uc003uru.2 - 1 114 c.9C>G c.(7-9)CTC>CTG p.L3L ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_5'UTR|CYP3A5_uc010lgg.2_Silent_p.L3L NM_000765 NP_000756 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, 3 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1) 1 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) AGTTTGGGATGAGATCCATCA 0.507 NaN 0 0 0 1 0 11 63 AP4M1 9179 broad.mit.edu 37 7 99704109 99704109 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:99704109G>A uc003utb.3 + 14 1317 c.1109G>A c.(1108-1110)GGA>GAA p.G370E AP4M1_uc010lgl.1_Missense_Mutation_p.G345E|AP4M1_uc003utc.3_Missense_Mutation_p.G377E|AP4M1_uc010lgm.2_Missense_Mutation_p.G242E|AP4M1_uc003utd.2_Missense_Mutation_p.G370E|AP4M1_uc011kjh.1_Missense_Mutation_p.G322E|AP4M1_uc003ute.3_Missense_Mutation_p.G145E|AP4M1_uc003utf.3_Missense_Mutation_p.G242E NM_004722 NP_004713 O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 370 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CGGGTGCAAGGAGGCTCTCAA 0.632 NaN 0 0 0 1 0 4 27 C7orf43 55262 broad.mit.edu 37 7 99755503 99755503 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:99755503G>A uc003utr.2 - 2 650 c.470C>T c.(469-471)TCA>TTA p.S157L C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003uts.2_5'UTR NM_018275 NP_060745 Q8WVR3 CG043_HUMAN hypothetical protein LOC55262 157 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCTATCCAGTGAAACGGTGAG 0.537 NaN 0 0 0 1 0 22 37 MUC17 140453 broad.mit.edu 37 7 100684352 100684352 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:100684352G>A uc003uxp.1 + 3 9708 c.9655G>A c.(9655-9657)GAA>AAA p.E3219K MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3219 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AACTCCTAGTGAAGGAATGAC 0.498 NaN 0 0 0 1 0 93 430 MUC17 140453 broad.mit.edu 37 7 100684883 100684883 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:100684883G>T uc003uxp.1 + 3 10239 c.10186G>T c.(10186-10188)GAA>TAA p.E3396* MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3396 Extracellular (Potential).|55.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AAGTCCTAGTGAAGGAACCAC 0.498 NaN 1 0 2.63401e-43 1 3.0645e-43 98 436 SERPINE1 5054 broad.mit.edu 37 7 100771918 100771918 + Nonsense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:100771918C>T uc003uxt.2 + 2 392 c.244C>T c.(244-246)CAA>TAA p.Q82* SERPINE1_uc011kkj.1_Nonsense_Mutation_p.Q67*|SERPINE1_uc003uxu.1_5'Flank NM_000602 NP_000593 P05121 PAI1_HUMAN plasminogen activator inhibitor-1 isoform 1 82 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) GCAGCAGATTCAAGCAGCTAT 0.577 NaN 0 0 0 1 0 8 57 PMPCB 9512 broad.mit.edu 37 7 102944862 102944862 + Missense_Mutation SNP A A G rs149104855 byFrequency TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:102944862A>G uc003vbl.2 + 6 695 c.661A>G c.(661-663)ATA>GTA p.I221V PMPCB_uc010liu.1_Missense_Mutation_p.I221V|PMPCB_uc003vbk.1_Missense_Mutation_p.I221V|PMPCB_uc003vbm.2_Missense_Mutation_p.I130V|PMPCB_uc010liv.2_Missense_Mutation_p.I127V|PMPCB_uc010liw.2_Missense_Mutation_p.I130V|PMPCB_uc011kll.1_Missense_Mutation_p.I116V|PMPCB_uc011klm.1_Missense_Mutation_p.I96V NM_004279 NP_004270 O75439 MPPB_HUMAN mitochondrial processing peptidase beta subunit 221 proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding ovary(4) 4 TTACAGATCTATAAGTCGTAA 0.318 NaN 0 0 0 1 0 18 49 LAMB1 3912 broad.mit.edu 37 7 107638920 107638920 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:107638920G>T uc003vew.2 - 4 566 c.231C>A c.(229-231)TTC>TTA p.F77L LAMB1_uc003vev.2_Missense_Mutation_p.F101L|LAMB1_uc003vex.2_Missense_Mutation_p.F77L|LAMB1_uc010ljn.1_Missense_Mutation_p.F163L NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 77 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AATTGCATATGAAGCATTTTT 0.363 NaN 1 0 0.000673444 1 0.000690993 10 70 DOCK4 9732 broad.mit.edu 37 7 111400253 111400253 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:111400253G>A uc003vfx.2 - 39 4388 c.4119C>T c.(4117-4119)TTC>TTT p.F1373F DOCK4_uc011kml.1_Silent_p.F254F|DOCK4_uc011kmm.1_Silent_p.F280F|DOCK4_uc003vfw.2_Silent_p.F823F|DOCK4_uc003vfy.2_Silent_p.F1418F NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1373 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) CTTCTGCCTGGAAGATGGTCT 0.547 NaN 0 0 0 1 0 23 113 PTPRZ1 5803 broad.mit.edu 37 7 121513587 121513587 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:121513587C>G uc003vjy.2 + 1 429 c.34C>G c.(34-36)CAG>GAG p.Q12E PTPRZ1_uc003vjz.2_Missense_Mutation_p.Q12E NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 12 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 CGCTTGCATTCAGCTCCTCTG 0.617 NaN 0 0 0 1 0 9 24 SND1 27044 broad.mit.edu 37 7 127544799 127544799 + Splice_Site SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:127544799G>A uc003vmi.2 + 14 1681 c.1455_splice c.e14-1 p.R485_splice SND1_uc010lle.2_Splice_Site_p.R138_splice NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 TTCCTTAACAGAGCTATTAAG 0.443 NaN 0 0 0 1 0 9 41 CCDC136 64753 broad.mit.edu 37 7 128452893 128452893 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:128452893G>A uc003vnv.1 + 14 3040 c.2673G>A c.(2671-2673)CTG>CTA p.L891L CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Silent_p.L707L|CCDC136_uc010llq.1_Silent_p.L260L|CCDC136_uc003vny.1_Silent_p.L501L NM_022742 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 891 Potential. integral to membrane protein binding ovary(2) 2 AGAAAGACCTGAAGGAAGAGC 0.532 NaN 0 0 0 1 0 9 13 MEST 4232 broad.mit.edu 37 7 130138063 130138063 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:130138063C>A uc003vqg.2 + 5 640 c.423C>A c.(421-423)ATC>ATA p.I141I MEST_uc003vqc.2_Silent_p.I132I|MEST_uc003vqd.2_Silent_p.I132I|MEST_uc003vqf.2_Silent_p.I132I|MEST_uc011kph.1_Silent_p.I127I|MEST_uc010lmg.2_Silent_p.I141I NM_002402 NP_002393 Q5EB52 MEST_HUMAN mesoderm specific transcript isoform a 141 mesoderm development endoplasmic reticulum membrane|integral to membrane hydrolase activity|protein binding ovary(2) 2 Melanoma(18;0.0435) ACCGCAGGATCAACCTTCTTT 0.483 NaN 1 0 5.03518e-11 1 5.60453e-11 19 73 PLXNA4 91584 broad.mit.edu 37 7 131825454 131825454 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:131825454G>A uc003vra.3 - 30 5571 c.5342C>T c.(5341-5343)TCT>TTT p.S1781F PLXNA4_uc003vqz.3_Missense_Mutation_p.S66F NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1781 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CGTGGAGCAAGAGTCCATGAA 0.542 NaN 0 0 0 1 0 16 80 EXOC4 60412 broad.mit.edu 37 7 132937919 132937919 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:132937919C>A uc003vrk.2 + 1 97 c.62C>A c.(61-63)TCG>TAG p.S21* EXOC4_uc011kpo.1_5'Flank|EXOC4_uc003vri.2_Nonsense_Mutation_p.S21*|EXOC4_uc003vrj.2_Nonsense_Mutation_p.S21* NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 21 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) AAAGACCCCTCGGGGCTGCTC 0.617 NaN 1 0 2.27111e-07 1 2.43748e-07 12 60 CALD1 800 broad.mit.edu 37 7 134618457 134618457 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:134618457G>A uc003vrz.2 + 5 1396 c.937G>A c.(937-939)GAG>AAG p.E313K CALD1_uc003vry.2_Intron|CALD1_uc003vsa.2_Intron|CALD1_uc003vsb.2_Intron|CALD1_uc010lmm.2_Intron|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Intron|CALD1_uc003vsd.2_Intron|CALD1_uc011kpu.1_Intron|CALD1_uc011kpv.1_Intron|CALD1_uc003vse.2_Missense_Mutation_p.E177K NM_033138 NP_149129 Q05682 CALD1_HUMAN caldesmon 1 isoform 1 313 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding 0 agaggcagaagagagggaaag 0.179 NaN 0 0 0 1 0 4 2 ATP6V0A4 50617 broad.mit.edu 37 7 138437408 138437408 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:138437408C>T uc003vuf.2 - 10 1229 c.991G>A c.(991-993)GAT>AAT p.D331N ATP6V0A4_uc003vug.2_Missense_Mutation_p.D331N|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.D331N NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 331 Cytoplasmic (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 CGTGTGGCATCTGCCACCGGG 0.587 NaN 0 0 0 1 0 7 29 ADCK2 90956 broad.mit.edu 37 7 140374519 140374519 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:140374519G>A uc003vvy.1 + 2 1220 c.1042G>A c.(1042-1044)GAG>AAG p.E348K ADCK2_uc003vvz.2_Missense_Mutation_p.E348K NM_052853 NP_443085 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 348 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity 0 Melanoma(164;0.00956) TAGCTTGCCTGAGATTGTGGA 0.522 NaN 0 0 0 1 0 9 28 MGAM 8972 broad.mit.edu 37 7 141731552 141731552 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:141731552G>C uc003vwy.2 + 13 1597 c.1543G>C c.(1543-1545)GAG>CAG p.E515Q NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 515 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AAAGGAATTTGAGCTTTTTCA 0.368 NaN 0 0 0 1 0 16 82 FAM131B 9715 broad.mit.edu 37 7 143053718 143053718 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:143053718G>C uc003wct.2 - 6 2630 c.924C>G c.(922-924)CTC>CTG p.L308L FAM131B_uc010loz.2_Silent_p.L276L|FAM131B_uc003wcu.3_Silent_p.L308L|FAM131B_uc010lpa.2_Silent_p.L336L NM_014690 NP_055505 Q86XD5 F131B_HUMAN hypothetical protein LOC9715 isoform b 308 0 Melanoma(164;0.205) CCTTCCGGCTGAGAGCGGTAG 0.582 NaN 0 0 0 1 0 33 143 OR2A2 442361 broad.mit.edu 37 7 143806767 143806767 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:143806767C>T uc011ktz.1 + 1 92 c.92C>T c.(91-93)TCT>TTT p.S31F NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) GGACTCTTCTCTGTCTTCTAT 0.517 NaN 0 0 0 1 0 19 126 ARHGEF35 445328 broad.mit.edu 37 7 143884109 143884109 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:143884109G>A uc003wdz.1 - 2 1486 c.1368C>T c.(1366-1368)ATC>ATT p.I456I NM_001003702 NP_001003702 A5YM69 ARG35_HUMAN Rho guanine nucleotide exchange factor (GEF) 456 0 GAGAGCATCTGATGGGCTCTA 0.488 NaN 0 0 0 1 0 8 30 GIMAP2 26157 broad.mit.edu 37 7 150389979 150389979 + Missense_Mutation SNP T T C rs138926685 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:150389979T>C uc003who.2 + 3 693 c.605T>C c.(604-606)ATT>ACT p.I202T GIMAP1_uc003whp.2_Intron NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 202 integral to membrane GTP binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATGGACTGTATTGAGGATCTG 0.458 NaN 0 0 0 1 0 59 88 KCNH2 3757 broad.mit.edu 37 7 150649798 150649798 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:150649798G>A uc003wic.2 - 6 1285 c.1272C>T c.(1270-1272)TTC>TTT p.F424F KCNH2_uc003wib.2_Silent_p.F84F|KCNH2_uc011kux.1_Silent_p.F328F|KCNH2_uc003wid.2_Silent_p.F84F|KCNH2_uc003wie.2_Silent_p.F424F NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 424 Helical; Name=Segment S1; (Potential). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) AGTAGGGTGTGAAGACAGCCG 0.632 NaN 0 0 0 1 0 17 93 NOS3 4846 broad.mit.edu 37 7 150709517 150709517 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:150709517C>T uc003wif.2 + 24 3359 c.3063C>T c.(3061-3063)TTC>TTT p.F1021F NOS3_uc011kuy.1_Silent_p.F815F|ATG9B_uc003wig.3_RNA|ATG9B_uc011kvc.1_3'UTR NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 1021 NADP (By similarity). anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) TTGCCCCCTTCCGGGGATTCT 0.617 NaN 0 0 0 1 0 7 6 INSIG1 3638 broad.mit.edu 37 7 155090019 155090019 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:155090019C>T uc003wly.2 + 2 235 c.24C>T c.(22-24)TTC>TTT p.F8F INSIG1_uc011kvu.1_Silent_p.F8F|INSIG1_uc003wlz.2_Silent_p.F8F NM_005542 NP_005533 O15503 INSI1_HUMAN insulin induced gene 1 isoform 1 8 Cytoplasmic. cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding 0 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACGACCACTTCTGGAGCTGCT 0.642 NaN 0 0 0 1 0 5 11 WDR60 55112 broad.mit.edu 37 7 158663899 158663899 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr7:158663899G>A uc003woe.3 + 3 294 c.136G>A c.(136-138)GAG>AAG p.E46K NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 46 ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) TAAGGAGTCTGAGATGGACCT 0.547 NaN 0 0 0 1 0 8 18 DLC1 10395 broad.mit.edu 37 8 12946138 12946138 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:12946138G>A uc003wwm.2 - 16 4594 c.4150C>T c.(4150-4152)CGC>TGC p.R1384C DLC1_uc003wwk.1_Missense_Mutation_p.R947C|DLC1_uc003wwl.1_Missense_Mutation_p.R981C|DLC1_uc011kxx.1_Missense_Mutation_p.R873C NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 1384 START. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 TTAAGTAGGCGCTTTAAGATT 0.453 NaN 0 0 0 1 0 25 71 LZTS1 11178 broad.mit.edu 37 8 20110394 20110394 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:20110394C>A uc003wzr.2 - 2 1159 c.1048G>T c.(1048-1050)GAG>TAG p.E350* LZTS1_uc010ltg.1_Nonsense_Mutation_p.E350* NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 350 Potential. cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) ATGAGGCTCTCGAGCTCCTGC 0.652 NaN 1 0 0.0477658 1 0.0481479 9 20 EPB49 2039 broad.mit.edu 37 8 21927731 21927731 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:21927731G>A uc011kyt.1 + 8 719 c.490G>A c.(490-492)GAG>AAG p.E164K EPB49_uc010ltl.2_Missense_Mutation_p.E164K|EPB49_uc011kys.1_Missense_Mutation_p.E124K|EPB49_uc010ltn.2_Missense_Mutation_p.E139K|EPB49_uc011kyu.1_Missense_Mutation_p.E164K|EPB49_uc011kyv.1_Missense_Mutation_p.E164K|EPB49_uc010ltq.2_Missense_Mutation_p.E164K NM_001114136 NP_001107608 Q08495 DEMA_HUMAN erythrocyte membrane protein band 4.9 isoform 1 164 actin filament bundle assembly|actin filament capping actin cytoskeleton|nucleus actin binding central_nervous_system(1) 1 Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631) GCACCTCATCGAGGATCTCAT 0.612 NaN 0 0 0 1 0 18 126 C8orf86 389649 broad.mit.edu 37 8 38370103 38370103 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:38370103G>C uc003xlx.1 - 3 499 c.474C>G c.(472-474)CTC>CTG p.L158L NM_207412 NP_997295 Q6ZUL3 CH086_HUMAN hypothetical protein LOC389649 158 0 agacaggaaagagtttgatag 0.055 NaN 0 0 0 1 0 9 49 ZMAT4 79698 broad.mit.edu 37 8 40532405 40532405 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:40532405G>A uc003xnr.2 - 5 541 c.395C>T c.(394-396)CCG>CTG p.P132L ZMAT4_uc003xns.2_Intron NM_024645 NP_078921 Q9H898 ZMAT4_HUMAN zinc finger, matrin type 4 isoform a 132 nucleus DNA binding|zinc ion binding pancreas(1)|central_nervous_system(1)|skin(1) 3 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) TGCGACCACCGGAGCAGTGTC 0.517 NaN 0 0 0 1 0 74 176 SGK196 84197 broad.mit.edu 37 8 42977680 42977680 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:42977680C>T uc003xpw.2 + 5 972 c.713C>T c.(712-714)TCC>TTC p.S238F NM_032237 NP_115613 Q9H5K3 SG196_HUMAN protein kinase-like protein SgK196 238 Protein kinase. integral to membrane ATP binding|protein kinase activity 0 AACCACAGCTCCGGGATGCTG 0.557 NaN 0 0 0 1 0 8 33 PXDNL 137902 broad.mit.edu 37 8 52321993 52321993 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:52321993C>T uc003xqu.3 - 17 2292 c.2191G>A c.(2191-2193)GAC>AAC p.D731N PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 731 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CACGTGCCGTCGTGGGCGCGG 0.677 NaN 0 0 0 1 0 5 24 ST18 9705 broad.mit.edu 37 8 53062372 53062372 + Nonsense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:53062372G>A uc003xqz.2 - 11 2128 c.1972C>T c.(1972-1974)CAG>TAG p.Q658* ST18_uc011ldq.1_Nonsense_Mutation_p.Q305*|ST18_uc011ldr.1_Nonsense_Mutation_p.Q623*|ST18_uc011lds.1_Nonsense_Mutation_p.Q563*|ST18_uc003xra.2_Nonsense_Mutation_p.Q658*|ST18_uc003xrb.2_Nonsense_Mutation_p.Q658* NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 658 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CAAAGAGCCTGATAGAATGCT 0.458 NaN 0 0 0 1 0 12 56 ZFHX4 79776 broad.mit.edu 37 8 77618762 77618762 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:77618762C>G uc003yav.2 + 2 2826 c.2439C>G c.(2437-2439)CTC>CTG p.L813L ZFHX4_uc003yat.1_Silent_p.L813L|ZFHX4_uc003yau.1_Silent_p.L813L|ZFHX4_uc003yaw.1_Silent_p.L813L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 813 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) ACTTGGGCCTCGCCCCGGCGG 0.507 NaN HNSCC(33;0.089) 0 0 0 1 0 3 17 ZFHX4 79776 broad.mit.edu 37 8 77620217 77620217 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:77620217C>G uc003yav.2 + 3 3336 c.2949C>G c.(2947-2949)AAC>AAG p.N983K ZFHX4_uc003yat.1_Missense_Mutation_p.N983K|ZFHX4_uc003yau.1_Missense_Mutation_p.N1009K|ZFHX4_uc003yaw.1_Missense_Mutation_p.N983K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 983 C2H2-type 6. 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) ATTACACCAACAGTGTGGATA 0.473 NaN HNSCC(33;0.089) 0 0 0 1 0 20 103 LRRCC1 85444 broad.mit.edu 37 8 86035736 86035736 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:86035736G>A uc003ycw.2 + 7 1173 c.1019G>A c.(1018-1020)AGA>AAA p.R340K LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Missense_Mutation_p.R41K|LRRCC1_uc003ycx.2_Missense_Mutation_p.R247K|LRRCC1_uc003ycy.2_Missense_Mutation_p.R320K NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 340 cell division|mitosis centriole|nucleus 0 TATGGAAACAGAAAAGAATGC 0.318 NaN 0 0 0 1 0 24 193 DECR1 1666 broad.mit.edu 37 8 91055005 91055005 + Nonsense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:91055005C>T uc003yek.1 + 7 856 c.715C>T c.(715-717)CAA>TAA p.Q239* DECR1_uc011lgc.1_Nonsense_Mutation_p.Q230*|DECR1_uc011lgd.1_RNA NM_001359 NP_001350 Q16698 DECR_HUMAN 2,4-dienoyl CoA reductase 1 precursor 239 fatty acid beta-oxidation|protein homotetramerization mitochondrial matrix|nucleus|plasma membrane 2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH 0 BRCA - Breast invasive adenocarcinoma(11;0.00953) CAATGTGATTCAACCAGGGCC 0.308 NaN 0 0 0 1 0 18 175 DPY19L4 286148 broad.mit.edu 37 8 95782795 95782795 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:95782795G>C uc003ygx.2 + 13 1574 c.1450G>C c.(1450-1452)GAA>CAA p.E484Q NM_181787 NP_861452 Q7Z388 D19L4_HUMAN dpy-19-like 4 484 Helical; (Potential). integral to membrane ovary(2) 2 Breast(36;3.85e-06) AATGGTTATAGAAGGGTAAGT 0.239 NaN 0 0 0 1 0 14 62 CCNE2 9134 broad.mit.edu 37 8 95902660 95902660 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:95902660G>C uc003yhc.2 - 6 545 c.436C>G c.(436-438)CTA>GTA p.L146V CCNE2_uc003yhd.2_Missense_Mutation_p.L146V NM_057749 NP_477097 O96020 CCNE2_HUMAN cyclin E2 146 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding 0 Breast(36;8.75e-07) AGCCAGTCTAGAAGTATGGAC 0.363 NaN 0 0 0 1 0 78 143 KCNS2 3788 broad.mit.edu 37 8 99440523 99440523 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:99440523G>A uc003yin.2 + 2 666 c.316G>A c.(316-318)GAG>AAG p.E106K NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 106 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) CCAGGAGATCGAGTACTGGGG 0.557 NaN 0 0 0 1 0 48 221 VPS13B 157680 broad.mit.edu 37 8 100874104 100874104 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:100874104G>T uc003yiv.2 + 58 11331 c.11220G>T c.(11218-11220)CGG>CGT p.R3740R VPS13B_uc003yiw.2_Silent_p.R3715R NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3740 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGGAGTGGCGGCGGCAGCTCC 0.672 NaN 1 0 3.07112e-06 1 3.24359e-06 11 27 SNX31 169166 broad.mit.edu 37 8 101586104 101586104 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:101586104C>T uc003yjr.2 - 14 1463 c.1312G>A c.(1312-1314)GAA>AAA p.E438K SNX31_uc011lha.1_Missense_Mutation_p.E233K|SNX31_uc011lhb.1_Missense_Mutation_p.E339K NM_152628 NP_689841 Q8N9S9 SNX31_HUMAN sorting nexin 31 438 cell communication|protein transport phosphatidylinositol binding 0 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) CAGAGATCTTCTTCCTTTATG 0.373 NaN 0 0 0 1 0 27 229 SNX31 169166 broad.mit.edu 37 8 101586144 101586144 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:101586144C>G uc003yjr.2 - 14 1423 c.1272G>C c.(1270-1272)AAG>AAC p.K424N SNX31_uc011lha.1_Missense_Mutation_p.K219N|SNX31_uc011lhb.1_Missense_Mutation_p.K325N NM_152628 NP_689841 Q8N9S9 SNX31_HUMAN sorting nexin 31 424 cell communication|protein transport phosphatidylinositol binding 0 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) CTTTAGCTATCTTAATCTTGC 0.338 NaN 0 0 0 1 0 15 250 UBR5 51366 broad.mit.edu 37 8 103341574 103341574 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:103341574G>A uc003ykr.1 - 10 1185 c.1152C>T c.(1150-1152)GTC>GTT p.V384V UBR5_uc003yks.1_Silent_p.V384V NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 384 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CTTTACTGCTGACAGCCAGAA 0.333 NaN 0 0 0 1 0 62 692 TM7SF4 81501 broad.mit.edu 37 8 105361098 105361098 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:105361098C>A uc003ylx.1 + 2 367 c.318C>A c.(316-318)GTC>GTA p.V106V NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 106 Helical; (Potential). osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CAGGGATCGTCATCTTGGGAC 0.438 NaN 1 0 1.45105e-14 1 1.64714e-14 17 193 TM7SF4 81501 broad.mit.edu 37 8 105361151 105361151 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:105361151G>A uc003ylx.1 + 2 420 c.371G>A c.(370-372)GGT>GAT p.G124D NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 124 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTCCTAGATGGTATGACTTGC 0.418 NaN 0 0 0 1 0 28 230 PKHD1L1 93035 broad.mit.edu 37 8 110456939 110456939 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:110456939C>T uc003yne.2 + 38 4945 c.4841C>T c.(4840-4842)TCA>TTA p.S1614L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1614 Extracellular (Potential).|IPT/TIG 8. 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) AGTGAGGATTCAATTACATGT 0.383 NaN HNSCC(38;0.096) 0 0 0 1 0 38 237 PKHD1L1 93035 broad.mit.edu 37 8 110492237 110492237 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:110492237G>A uc003yne.2 + 55 9300 c.9196G>A c.(9196-9198)GAC>AAC p.D3066N NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3066 Extracellular (Potential).|G8 2. 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) GATTGTAGCTGACATAGATAT 0.338 NaN HNSCC(38;0.096) 0 0 0 1 0 5 13 COL14A1 7373 broad.mit.edu 37 8 121259858 121259858 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:121259858C>T uc003yox.2 + 21 2751 c.2486C>T c.(2485-2487)TCC>TTC p.S829F COL14A1_uc003yoy.2_Missense_Mutation_p.S507F NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 829 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TCAGTACCATCCTCGGGGCCC 0.473 NaN 0 0 0 1 0 9 86 WDR67 93594 broad.mit.edu 37 8 124153062 124153062 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:124153062G>A uc003ypp.1 + 18 2651 c.2561G>A c.(2560-2562)AGA>AAA p.R854K WDR67_uc011lig.1_Missense_Mutation_p.R823K|WDR67_uc011lih.1_Missense_Mutation_p.R744K|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.R488K|WDR67_uc003ypt.1_Missense_Mutation_p.R311K|WDR67_uc003ypu.1_Missense_Mutation_p.R311K NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 854 Potential. centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GATGCCTATAGACGAAAAGTG 0.338 NaN 0 0 0 1 0 20 101 FBXO32 114907 broad.mit.edu 37 8 124516888 124516888 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:124516888C>G uc003yqr.2 - 8 1126 c.934G>C c.(934-936)GAT>CAT p.D312H FBXO32_uc003yqq.2_Missense_Mutation_p.D167H|FBXO32_uc010mdk.2_Missense_Mutation_p.D219H NM_058229 NP_478136 Q969P5 FBX32_HUMAN F-box only protein 32 isoform 1 312 skin(3)|breast(2)|lung(1) 6 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TGAAGGGTATCTCCATACTGC 0.498 NaN 0 0 0 1 0 9 48 ZC3H3 23144 broad.mit.edu 37 8 144620768 144620768 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:144620768G>C uc003yyd.2 - 2 798 c.769C>G c.(769-771)CCA>GCA p.P257A NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 257 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) AGGAGCTGTGGAGCACAGCTG 0.667 NaN 0 0 0 1 0 17 51 FAM83H 286077 broad.mit.edu 37 8 144810168 144810168 + Missense_Mutation SNP T T C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:144810168T>C uc003yzk.2 - 5 1532 c.1463A>G c.(1462-1464)GAC>GGC p.D488G FAM83H_uc010mfk.1_RNA NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 488 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CAGGGTGAAGTCATCCGGGTC 0.746 NaN 0 0 0 1 0 4 7 SCRIB 23513 broad.mit.edu 37 8 144897387 144897387 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:144897387G>A uc003yzp.1 - 1 163 c.156C>T c.(154-156)CCC>CCT p.P52P SCRIB_uc003yzo.1_Silent_p.P52P|MIR937_hsa-mir-937|MI0005759_5'Flank NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 52 LRR 1.|Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CGCTCACCTTGGGCAGCTCGC 0.716 NaN 0 0 0 1 0 5 6 PLEC 5339 broad.mit.edu 37 8 144993918 144993918 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:144993918G>A uc003zaf.1 - 32 10652 c.10482C>T c.(10480-10482)CTC>CTT p.L3494L PLEC_uc003zab.1_Silent_p.L3357L|PLEC_uc003zac.1_Silent_p.L3361L|PLEC_uc003zad.2_Silent_p.L3357L|PLEC_uc003zae.1_Silent_p.L3325L|PLEC_uc003zag.1_Silent_p.L3335L|PLEC_uc003zah.2_Silent_p.L3343L|PLEC_uc003zaj.2_Silent_p.L3384L NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3494 Plectin 12.|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 AGATGCCGGCGAGGCAGCCAC 0.657 NaN 0 0 0 1 0 16 41 PARP10 84875 broad.mit.edu 37 8 145059118 145059118 + Missense_Mutation SNP G G C rs148128554 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:145059118G>C uc003zal.3 - 5 1160 c.1052C>G c.(1051-1053)TCG>TGG p.S351W PARP10_uc003zak.3_Missense_Mutation_p.S57W|PARP10_uc011lku.1_Missense_Mutation_p.S363W|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.S351W|PARP10_uc010mfn.1_Missense_Mutation_p.S266W|PARP10_uc010mfo.1_3'UTR NM_032789 NP_116178 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 351 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1) 6 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CATGGGCATCGAGCTGACTTG 0.627 NaN 0 0 0 1 0 15 126 CPSF1 29894 broad.mit.edu 37 8 145625827 145625827 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:145625827C>T uc003zcj.2 - 8 822 c.747G>A c.(745-747)CAG>CAA p.Q249Q CPSF1_uc003zck.1_Silent_p.Q171Q|CPSF1_uc011lle.1_Silent_p.Q249Q|MIR1234_hsa-mir-1234|MI0006324_5'Flank|CPSF1_uc011llf.1_Silent_p.Q249Q NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 249 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GGTGCACCTTCTGCGTGATGT 0.647 NaN 0 0 0 1 0 6 79 GPT 2875 broad.mit.edu 37 8 145729780 145729780 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:145729780G>A uc011lli.1 + 2 250 c.93G>A c.(91-93)CGG>CGA p.R31R GPT_uc011llj.1_Silent_p.R31R|GPT_uc003zdh.3_Silent_p.R31R NM_005309 NP_005300 P24298 ALAT1_HUMAN glutamic pyruvate transaminase 31 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1)|central_nervous_system(1) 2 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CGCGTGTGCGGAGAGTGGAGT 0.672 NaN 0 0 0 1 0 5 22 RECQL4 9401 broad.mit.edu 37 8 145739392 145739392 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr8:145739392C>T uc003zdj.2 - 12 2010 c.1978G>A c.(1978-1980)GAA>AAA p.E660K NM_004260 NP_004251 O94761 RECQ4_HUMAN RecQ protein-like 4 660 Helicase ATP-binding. DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|lung(1)|skin(1) 4 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TCAGGCTCTTCAGCCACAGCC 0.657 NaN N|F|S osteosarcoma|skin basal and sqamous cell Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome 0 0 0 1 0 6 5 KANK1 23189 broad.mit.edu 37 9 713026 713026 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:713026G>A uc003zgl.1 + 7 2909 c.2260G>A c.(2260-2262)GTG>ATG p.V754M KANK1_uc003zgm.2_Missense_Mutation_p.V754M|KANK1_uc003zgn.1_Missense_Mutation_p.V754M|KANK1_uc003zgo.1_Missense_Mutation_p.V754M|KANK1_uc003zgp.1_Missense_Mutation_p.V754M|KANK1_uc003zgq.2_Missense_Mutation_p.V596M|KANK1_uc003zgr.1_Missense_Mutation_p.V596M|KANK1_uc003zgs.1_Missense_Mutation_p.V596M NM_015158 NP_055973 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 isoform a 754 negative regulation of actin filament polymerization cytoplasm ovary(2)|central_nervous_system(1)|pancreas(1) 4 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) GCCATCAGCTGTGAAGACCAA 0.498 NaN 0 0 0 1 0 25 24 GLDC 2731 broad.mit.edu 37 9 6595073 6595073 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:6595073G>A uc003zkc.2 - 9 1395 c.1202C>T c.(1201-1203)TCC>TTC p.S401F NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 401 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CAGCCCATGGGAACCATGGTA 0.418 NaN 0 0 0 1 0 34 123 PTPRD 5789 broad.mit.edu 37 9 8484313 8484313 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:8484313G>A uc003zkk.2 - 29 3930 c.3219C>T c.(3217-3219)GTC>GTT p.V1073V PTPRD_uc003zkp.2_Silent_p.V662V|PTPRD_uc003zkq.2_Silent_p.V662V|PTPRD_uc003zkr.2_Silent_p.V657V|PTPRD_uc003zks.2_Silent_p.V652V|PTPRD_uc003zkl.2_Silent_p.V1064V|PTPRD_uc003zkm.2_Silent_p.V1060V|PTPRD_uc003zkn.2_Silent_p.V662V|PTPRD_uc003zko.2_Silent_p.V659V NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1073 Fibronectin type-III 8.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCTTCAGGTTGACAATTAACT 0.423 NaN TSP Lung(15;0.13) 0 0 0 1 0 21 25 ADAMTSL1 92949 broad.mit.edu 37 9 18657715 18657715 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:18657715G>C uc003zne.3 + 8 1040 c.913G>C c.(913-915)GAT>CAT p.D305H ADAMTSL1_uc003znb.2_Missense_Mutation_p.D305H|ADAMTSL1_uc003znc.3_Missense_Mutation_p.D305H NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 305 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) GAGGGAGACGGATTTCTTTCC 0.463 NaN 0 0 0 1 0 5 34 CDKN2A 1029 broad.mit.edu 37 9 21974792 21974792 + Nonsense_Mutation SNP G G T rs141798398 TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:21974792G>T uc003zpk.2 - 1 247 c.35C>A c.(34-36)TCG>TAG p.S12* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Nonsense_Mutation_p.S12*|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 12 ANK 1. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(23)|p.S12*(3)|p.S12fs*6(1)|p.S12fs*14(1)|p.S7_A19del(1)|p.M9_A20>X(1)|p.P11_S12insAAGSSMEP(1)|p.S12fs*20(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCAGTCAGCCGAAGGCTCCAT 0.761 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 1 0 1.05317e-09 1 1.16403e-09 11 20 ACO1 48 broad.mit.edu 37 9 32421006 32421006 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:32421006C>T uc003zqw.3 + 8 1106 c.951C>T c.(949-951)ATC>ATT p.I317I ACO1_uc010mjh.1_Silent_p.I151I|ACO1_uc003zqx.3_Silent_p.I317I|ACO1_uc003zqy.3_RNA NM_002197 NP_002188 P21399 ACOC_HUMAN aconitase 1 317 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding 0 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) AAGTTAGTATCACGTACCTGG 0.483 NaN 0 0 0 1 0 29 93 GALT 2592 broad.mit.edu 37 9 34647665 34647665 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:34647665C>T uc003zve.2 + 4 407 c.340C>T c.(340-342)CAT>TAT p.H114Y GALT_uc003zvf.2_Intron|GALT_uc003zvg.2_5'UTR|GALT_uc003zvh.2_Missense_Mutation_p.H66Y|GALT_uc011lop.1_Missense_Mutation_p.H66Y NM_000155 NP_000146 P07902 GALT_HUMAN galactose-1-phosphate uridylyltransferase 114 H -> L (in GALCT). galactose catabolic process cytosol UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding 0 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) ACCCAGTGATCATCCCCTTTT 0.517 NaN Galactosemia 0 0 0 1 0 6 31 KIAA1045 23349 broad.mit.edu 37 9 34971533 34971533 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:34971533G>A uc003zvq.2 + 2 416 c.238G>A c.(238-240)GAG>AAG p.E80K KIAA1045_uc003zvr.2_Missense_Mutation_p.E80K NM_015297 NP_056112 Q9UPV7 K1045_HUMAN hypothetical protein LOC23349 80 calcium ion binding skin(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00575) CGCAGCCTGGGAGCGGCTCCG 0.637 NaN 0 0 0 1 0 26 88 SPAG8 26206 broad.mit.edu 37 9 35811936 35811936 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:35811936G>A uc003zye.2 - 2 222 c.107C>T c.(106-108)TCA>TTA p.S36L SPAG8_uc003zyf.2_5'UTR|SPAG8_uc003zyg.2_Missense_Mutation_p.S36L NM_172312 NP_758516 Q99932 SPAG8_HUMAN sperm associated antigen 8 isoform 2 36 acrosomal vesicle|membrane ovary(1) 1 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) ACTGTCATCTGAAGAAGGAAA 0.388 NaN 0 0 0 1 0 10 37 FOXD4L3 286380 broad.mit.edu 37 9 70918850 70918850 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:70918850G>C uc004agm.1 + 1 1068 c.983G>C c.(982-984)AGA>ACA p.R328T NM_199135 NP_954586 Q6VB84 FX4L3_HUMAN forkhead box D4-like 3 328 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18) TCAGCATTGAGAGTATTATGC 0.632 NaN 0 0 0 1 0 20 96 TJP2 9414 broad.mit.edu 37 9 71866215 71866215 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:71866215G>A uc004ahe.2 + 21 3456 c.3256G>A c.(3256-3258)GAG>AAG p.E1086K TJP2_uc011lrs.1_Intron|TJP2_uc004ahf.2_Intron|TJP2_uc011lru.1_Missense_Mutation_p.E1053K|TJP2_uc011lrv.1_Missense_Mutation_p.E1108K|TJP2_uc010mom.1_Intron NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN tight junction protein 2 (zona occludens 2) 1086 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding 0 CAAAATATTTGAGAAGATGGA 0.468 NaN 0 0 0 1 0 11 43 HNRNPK 3190 broad.mit.edu 37 9 86586977 86586977 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:86586977C>G uc004ang.3 - 11 997 c.773G>C c.(772-774)AGA>ACA p.R258T HNRNPK_uc011lsw.1_Missense_Mutation_p.R18T|HNRNPK_uc004and.3_Missense_Mutation_p.R18T|HNRNPK_uc004ank.3_Missense_Mutation_p.R258T|HNRNPK_uc004anf.3_Missense_Mutation_p.R258T|HNRNPK_uc004anh.3_Missense_Mutation_p.R234T|HNRNPK_uc011lsx.1_Missense_Mutation_p.R234T|HNRNPK_uc004ani.3_Missense_Mutation_p.R258T|HNRNPK_uc004anj.3_Missense_Mutation_p.R258T|HNRNPK_uc004ann.3_Missense_Mutation_p.R234T|HNRNPK_uc004anl.3_Missense_Mutation_p.R258T|HNRNPK_uc004anm.3_Missense_Mutation_p.R258T|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank NM_031262 NP_112552 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 258 5 X 4 AA repeats of G-X-G-G.|2 X 22 AA approximate repeats.|RNA-binding RGG-box.|2 X 6 AA approximate repeats.|Necessary for interaction with DDX1.|3-2.|Interaction with ZIK1 (By similarity). interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding skin(1) 1 AAAACCACCTCTTCCCCGCAT 0.507 NaN 0 0 0 1 0 8 69 SLC28A3 64078 broad.mit.edu 37 9 86905100 86905100 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:86905100C>T uc010mpz.2 - 11 1243 c.1118G>A c.(1117-1119)GGA>GAA p.G373E SLC28A3_uc011lsy.1_Missense_Mutation_p.G304E|SLC28A3_uc004anu.1_Missense_Mutation_p.G373E NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 373 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 TAGCACGCTTCCAGCAATGGT 0.428 NaN 0 0 0 1 0 14 61 DAPK1 1612 broad.mit.edu 37 9 90252913 90252913 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:90252913G>A uc004apc.2 + 4 478 c.340G>A c.(340-342)GAG>AAG p.E114K DAPK1_uc004ape.2_Missense_Mutation_p.E114K|DAPK1_uc004apd.2_Missense_Mutation_p.E114K|DAPK1_uc011ltg.1_Missense_Mutation_p.E114K|DAPK1_uc011lth.1_5'UTR NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 114 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 TTTAACTGAAGAGGAAGCAAC 0.413 NaN Chronic_Lymphocytic_Leukemia_Familial_Clustering_of 0 0 0 1 0 27 45 NOL8 55035 broad.mit.edu 37 9 95062233 95062233 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:95062233C>T uc004arv.2 - 14 3578 c.3241G>A c.(3241-3243)GAC>AAC p.D1081N NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.D313N|NOL8_uc011ltw.1_Missense_Mutation_p.D1013N NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 1081 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 GAACTGCTGTCTTGTAAACGA 0.398 NaN 0 0 0 1 0 47 216 ZNF484 83744 broad.mit.edu 37 9 95618484 95618484 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:95618484C>G uc004asu.1 - 3 281 c.132G>C c.(130-132)TTG>TTC p.L44F ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.L46F|ZNF484_uc010mrb.1_Missense_Mutation_p.L8F|ZNF484_uc004asv.1_Missense_Mutation_p.L8F NM_031486 NP_113674 Q5JVG2 ZN484_HUMAN zinc finger protein 484 isoform a 44 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCACTGAGATCAAGTTGAAAT 0.428 NaN 0 0 0 1 0 15 110 KIAA1529 57653 broad.mit.edu 37 9 100071729 100071729 + Missense_Mutation SNP A A C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:100071729A>C uc011lut.1 + 15 1425 c.652A>C c.(652-654)AAG>CAG p.K218Q KIAA1529_uc004axe.1_Missense_Mutation_p.K218Q|KIAA1529_uc004axg.1_Missense_Mutation_p.K79Q|KIAA1529_uc011lus.1_Missense_Mutation_p.K79Q|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.K79Q|KIAA1529_uc011luv.1_Missense_Mutation_p.K79Q NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) GGCCACCAGGAAGCGGGCTGC 0.602 NaN 0 0 0 1 0 9 48 TBC1D2 55357 broad.mit.edu 37 9 100963836 100963836 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:100963836G>A uc011lvb.1 - 11 2562 c.2382C>T c.(2380-2382)CTC>CTT p.L794L TBC1D2_uc004ayp.2_Silent_p.L334L|TBC1D2_uc004ayq.2_Silent_p.L794L|TBC1D2_uc004ayr.2_Silent_p.L576L|TBC1D2_uc004ayo.3_Silent_p.L794L NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 794 Rab-GAP TBC. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity ovary(3) 3 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CAAAGACCACGAGGAACCAGT 0.612 NaN 0 0 0 1 0 14 65 PPP3R2 5535 broad.mit.edu 37 9 104356723 104356723 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:104356723C>T uc004bbr.2 - 1 561 c.490G>A c.(490-492)GAG>AAG p.E164K GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN protein phosphatase 3 regulatory subunit B, beta 161 EF-hand 4. calcium ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) TTGTGGATCTCCAGGTCTCTG 0.478 NaN 0 0 0 1 0 10 77 GRIN3A 116443 broad.mit.edu 37 9 104433061 104433061 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:104433061C>G uc004bbp.1 - 3 2234 c.1633G>C c.(1633-1635)GAC>CAC p.D545H GRIN3A_uc004bbq.1_Missense_Mutation_p.D545H NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 545 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GTCATGGGGTCTAGACAGAGT 0.463 NaN 0 0 0 1 0 22 77 CYLC2 1539 broad.mit.edu 37 9 105767661 105767661 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:105767661G>A uc004bbs.2 + 5 818 c.748G>A c.(748-750)GAT>AAT p.D250N NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 250 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) TGGAAAAAAAGATGCAAACAA 0.368 NaN 0 0 0 1 0 8 55 OR13C4 138804 broad.mit.edu 37 9 107288606 107288606 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:107288606G>A uc011lvn.1 - 1 885 c.885C>T c.(883-885)ATC>ATT p.I295I NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 295 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TCAAGCTATAGATTATGGGGT 0.403 NaN 0 0 0 1 0 14 76 ABCA1 19 broad.mit.edu 37 9 107564394 107564394 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:107564394G>C uc004bcl.2 - 34 4952 c.4639C>G c.(4639-4641)CCG>GCG p.P1547A NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1547 Extracellular. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCTTGACTCGGAGGAAGTGCT 0.423 NaN 0 0 0 1 0 11 49 C9orf5 23731 broad.mit.edu 37 9 111798489 111798489 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:111798489G>A uc004bdt.3 - 16 2428 c.2396C>T c.(2395-2397)TCA>TTA p.S799L C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.S791L NM_032012 NP_114401 Q9H330 CI005_HUMAN hypothetical protein LOC23731 799 integral to membrane central_nervous_system(1) 1 Myeloproliferative disorder(63;0.204) OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823) TACTTACCCTGATATGTCAGA 0.373 NaN 0 0 0 1 0 5 38 EPB41L4B 54566 broad.mit.edu 37 9 112020527 112020527 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:112020527C>G uc004bdz.1 - 7 977 c.682G>C c.(682-684)GAG>CAG p.E228Q EPB41L4B_uc004bea.2_Missense_Mutation_p.E228Q NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 228 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 AACCGAAACTCAGACACAAGC 0.443 NaN 0 0 0 1 0 10 61 PALM2 114299 broad.mit.edu 37 9 112705701 112705701 + Missense_Mutation SNP T T C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:112705701T>C uc004beg.2 + 7 1206 c.1136T>C c.(1135-1137)ATG>ACG p.M379T PALM2_uc004bef.2_Missense_Mutation_p.M413T|PALM2_uc004beh.3_Missense_Mutation_p.M411T|PALM2-AKAP2_uc004bei.2_Intron|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron NM_001037293 NP_001032370 Q8IXS6 PALM2_HUMAN paralemmin 2 isoform b 379 regulation of cell shape plasma membrane ovary(2) 2 TGTGTTGTCATGTGACCACTT 0.512 NaN 0 0 0 1 0 17 81 HDHD3 81932 broad.mit.edu 37 9 116136283 116136283 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:116136283C>G uc004bhi.1 - 2 1136 c.352G>C c.(352-354)GAG>CAG p.E118Q HDHD3_uc004bhj.2_Missense_Mutation_p.E118Q|HDHD3_uc004bhk.2_Missense_Mutation_p.E118Q NM_031219 NP_112496 Q9BSH5 HDHD3_HUMAN haloacid dehalogenase-like hydrolase domain 118 phosphoglycolate phosphatase activity|protein binding 0 AGGGTGTCCTCAGCCCCATCC 0.627 NaN 0 0 0 1 0 35 132 DFNB31 25861 broad.mit.edu 37 9 117188609 117188609 + Missense_Mutation SNP G G A rs142990800 byFrequency TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:117188609G>A uc004biz.3 - 4 1697 c.1048C>T c.(1048-1050)CGG>TGG p.R350W DFNB31_uc004bix.2_5'Flank|DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.R350W NM_015404 NP_056219 Q9P202 WHRN_HUMAN CASK-interacting protein CIP98 isoform 1 350 PDZ 2. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium ovary(4)|central_nervous_system(1)|pancreas(1) 6 ATGAGGTGCCGAGATGACTTA 0.587 NaN 0 0 0 1 0 9 54 TNC 3371 broad.mit.edu 37 9 117826296 117826296 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:117826296G>A uc004bjj.3 - 12 3901 c.3539C>T c.(3538-3540)GCC>GTC p.A1180V TNC_uc010mvf.2_Missense_Mutation_p.A1180V NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1180 Fibronectin type-III 7. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GAGTTTGAGGGCATCCCAGCC 0.522 NaN 0 0 0 1 0 45 152 CDK5RAP2 55755 broad.mit.edu 37 9 123182069 123182069 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:123182069G>C uc004bkf.2 - 27 4355 c.4174C>G c.(4174-4176)CAA>GAA p.Q1392E CDK5RAP2_uc010mvi.2_Missense_Mutation_p.Q401E|CDK5RAP2_uc004bke.2_Missense_Mutation_p.Q677E|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.Q1392E|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.Q657E|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.Q657E|CDK5RAP2_uc011lya.1_Missense_Mutation_p.Q657E|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.Q1162E|CDK5RAP2_uc004bki.2_Missense_Mutation_p.Q1159E NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1392 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 AGCTTACCTTGAGAAAAACTG 0.373 NaN 0 0 0 1 0 16 96 DAB2IP 153090 broad.mit.edu 37 9 124519389 124519389 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:124519389G>C uc004bln.2 + 4 445 c.376G>C c.(376-378)GAG>CAG p.E126Q DAB2IP_uc004blo.2_Missense_Mutation_p.E30Q NM_032552 NP_115941 Q5VWQ8 DAB2P_HUMAN disabled homolog 2 interacting protein isoform 154 PH. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity ovary(1)|central_nervous_system(1) 2 CATGGAGGAAGAGGTGGTCAT 0.637 NaN 0 0 0 1 0 12 37 FAM102A 399665 broad.mit.edu 37 9 130705511 130705511 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:130705511G>C uc004bsx.1 - 11 1194 c.1115C>G c.(1114-1116)TCT>TGT p.S372C FAM102A_uc004bsw.1_Missense_Mutation_p.S230C|FAM102A_uc004bsy.1_3'UTR NM_001035254 NP_001030331 Q5T9C2 F102A_HUMAN early estrogen-induced gene 1 protein isoform a 372 ovary(1) 1 GACCCCAGAAGAGACCCTGCA 0.542 NaN OREG0019513 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 11 64 ZER1 10444 broad.mit.edu 37 9 131497667 131497667 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:131497667G>C uc004bwa.1 - 14 2519 c.2086C>G c.(2086-2088)CCT>GCT p.P696A NM_006336 NP_006327 Q7Z7L7 ZER1_HUMAN zyg-11 homolog B (C. elegans)-like 696 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity ovary(1) 1 TGGCTGACAGGAGAGATTCCC 0.532 NaN 0 0 0 1 0 4 28 POMT1 10585 broad.mit.edu 37 9 134381829 134381829 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:134381829G>C uc004cav.2 + 4 471 c.269G>C c.(268-270)AGA>ACA p.R90T POMT1_uc011mci.1_Missense_Mutation_p.R90T|POMT1_uc004cax.2_Missense_Mutation_p.R90T|POMT1_uc011mcj.1_Missense_Mutation_p.E8Q|POMT1_uc004cau.2_Missense_Mutation_p.R90T|POMT1_uc004caw.2_Missense_Mutation_p.R36T|POMT1_uc011mck.1_5'UTR|POMT1_uc011mcl.1_5'UTR|POMT1_uc011mcm.1_Missense_Mutation_p.Q54H NM_007171 NP_009102 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 isoform a 90 multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding upper_aerodigestive_tract(1) 1 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) TTGTGGAACAGAATTGGAGCA 0.294 NaN 0 0 0 1 0 37 146 CEL 1056 broad.mit.edu 37 9 135940563 135940563 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:135940563C>T uc010naa.1 + 4 502 c.486C>T c.(484-486)GTC>GTT p.V162V NM_001807 NP_001798 P19835 CEL_HUMAN carboxyl ester lipase precursor 159 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) TCATCGTGGTCACCTTCAACT 0.642 NaN 0 0 0 1 0 42 201 CEL 1056 broad.mit.edu 37 9 135947125 135947125 + Nonsense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:135947125C>T uc010naa.1 + 11 2261 c.2245C>T c.(2245-2247)CAG>TAG p.Q749* NM_001807 NP_001798 P19835 CEL_HUMAN carboxyl ester lipase precursor 746 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CAAGGAAGCTCAGATGCCTGC 0.647 NaN 0 0 0 1 0 5 38 ADAMTS13 11093 broad.mit.edu 37 9 136324273 136324273 + Nonsense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:136324273C>T uc004cdv.3 + 29 4699 c.4255C>T c.(4255-4257)CAG>TAG p.Q1419* ADAMTS13_uc004cdp.3_3'UTR|ADAMTS13_uc004cdt.1_Nonsense_Mutation_p.Q1363*|ADAMTS13_uc004cdu.1_Nonsense_Mutation_p.Q1332*|ADAMTS13_uc004cdw.3_Nonsense_Mutation_p.Q1363*|ADAMTS13_uc004cdx.3_Nonsense_Mutation_p.Q1332*|ADAMTS13_uc004cdz.3_Nonsense_Mutation_p.Q1089*|ADAMTS13_uc004ceb.3_Nonsense_Mutation_p.Q215*|C9orf7_uc011mdg.1_5'Flank|C9orf7_uc004cec.2_5'Flank|C9orf7_uc011mdh.1_5'Flank|C9orf7_uc011mdi.1_5'Flank|C9orf7_uc010nan.2_5'Flank NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 1419 CUB 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GCAGGACCCTCAGTCCTGGAA 0.587 NaN 0 0 0 1 0 7 15 COL5A1 1289 broad.mit.edu 37 9 137704502 137704502 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:137704502G>A uc004cfe.2 + 48 4178 c.3796G>A c.(3796-3798)GAT>AAT p.D1266N NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1266 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TCCAGGTGCTGATGGCCCACA 0.622 NaN 0 0 0 1 0 6 7 LHX3 8022 broad.mit.edu 37 9 139090634 139090634 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:139090634C>T uc004cha.2 - 5 736 c.639G>A c.(637-639)AAG>AAA p.K213K LHX3_uc004cgz.2_Silent_p.K218K NM_178138 NP_835258 Q9UBR4 LHX3_HUMAN LIM homeobox protein 3 isoform a 213 Homeobox. inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) TCTTCAGCCTCTTCTCCTTGG 0.721 NaN 0 0 0 1 0 7 24 FBXW5 54461 broad.mit.edu 37 9 139836636 139836636 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:139836636C>G uc004cjx.2 - 6 1109 c.958G>C c.(958-960)GAG>CAG p.E320Q FBXW5_uc010nbx.2_RNA|FBXW5_uc004cjy.2_Missense_Mutation_p.E68Q|FBXW5_uc004cjz.2_Missense_Mutation_p.E68Q NM_018998 NP_061871 Q969U6 FBXW5_HUMAN F-box and WD repeat domain containing 5 320 catalytic activity|protein binding 0 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) AGCATGCGCTCCGACAGCTGT 0.697 NaN 0 0 0 1 0 4 5 MAN1B1 11253 broad.mit.edu 37 9 139982608 139982608 + Missense_Mutation SNP T T A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr9:139982608T>A uc004cld.2 + 2 336 c.301T>A c.(301-303)TAC>AAC p.Y101N MAN1B1_uc004clc.2_5'UTR|MAN1B1_uc011meo.1_5'UTR|MAN1B1_uc011mep.1_Missense_Mutation_p.Y101N|MAN1B1_uc010ncc.2_RNA|LOC100289341_uc004clb.3_5'Flank NM_016219 NP_057303 Q9UKM7 MA1B1_HUMAN alpha 1,2-mannosidase 101 Helical; Signal-anchor for type II membrane protein; (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(1)|central_nervous_system(1) 2 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) ACTCCTCTTCTACATCAACTT 0.438 NaN 0 0 0 1 0 17 118 ARSH 347527 broad.mit.edu 37 X 2942120 2942120 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:2942120C>A uc011mhj.1 + 6 960 c.960C>A c.(958-960)TTC>TTA p.F320L NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 320 integral to membrane arylsulfatase activity|metal ion binding lung(1) 1 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TGGTGTACTTCACCTCTGACA 0.577 NaN 1 0 7.03913e-09 1 7.6857e-09 11 48 ARSF 416 broad.mit.edu 37 X 3002382 3002382 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:3002382C>G uc004cre.1 + 6 726 c.505C>G c.(505-507)CTC>GTC p.L169V ARSF_uc004crf.1_Missense_Mutation_p.L169V NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 169 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCCGTTCACTCTCGTTGACAG 0.527 NaN 0 0 0 1 0 52 90 PRKX 5613 broad.mit.edu 37 X 3530357 3530357 + Missense_Mutation SNP C C T rs139150166 byFrequency TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:3530357C>T uc010nde.2 - 8 1328 c.961G>A c.(961-963)GTG>ATG p.V321M NM_005044 NP_005035 P51817 PRKX_HUMAN protein kinase, X-linked 321 AGC-kinase C-terminal. ATP binding|cAMP-dependent protein kinase activity skin(2)|lung(1) 3 all_lung(23;0.000396)|Lung NSC(23;0.00123) ATCTTGGGCACGATGGGAGGC 0.537 NaN 0 0 0 1 0 5 31 EGFL6 25975 broad.mit.edu 37 X 13635940 13635940 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:13635940G>T uc004cvi.2 + 8 1110 c.870G>T c.(868-870)ATG>ATT p.M290I EGFL6_uc004cvj.2_Missense_Mutation_p.M290I|EGFL6_uc011mik.1_Missense_Mutation_p.M191I NM_015507 NP_056322 Q8IUX8 EGFL6_HUMAN epidermal growth factor-like protein 6 290 cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2) 2 AAAACAGCATGAAAAAGAAGG 0.418 NaN 1 0 1.31171e-36 1 1.52327e-36 68 117 ACE2 59272 broad.mit.edu 37 X 15591524 15591524 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:15591524G>A uc004cxa.1 - 11 1675 c.1507C>T c.(1507-1509)CTG>TTG p.L503L ACE2_uc004cxb.2_Silent_p.L503L NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 precursor 503 Extracellular (Potential). angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding ovary(3) 3 Hepatocellular(33;0.183) Moexipril(DB00691) ACATGGAACAGAGATGCGGGG 0.423 NaN 0 0 0 1 0 53 135 REPS2 9185 broad.mit.edu 37 X 17080621 17080621 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:17080621C>T uc004cxv.1 + 9 1346 c.1175C>T c.(1174-1176)GCA>GTA p.A392V REPS2_uc004cxw.1_Missense_Mutation_p.A391V|REPS2_uc011miw.1_Missense_Mutation_p.A251V NM_004726 NP_004717 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 392 epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding skin(2)|central_nervous_system(1) 3 Hepatocellular(33;0.183) TCACTGCCGGCAAATCAACAA 0.358 NaN 0 0 0 1 0 18 60 PHKA2 5256 broad.mit.edu 37 X 18913260 18913260 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:18913260C>T uc004cyv.3 - 31 3762 c.3332G>A c.(3331-3333)CGA>CAA p.R1111Q PHKA2_uc004cyu.3_Missense_Mutation_p.R417Q|PHKA2_uc010nfe.1_Missense_Mutation_p.R143Q|PHKA2_uc010nff.1_RNA NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 1111 R -> RTR (in GSD9A; type 2). glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) TCGTACCTCTCGGGTCGTCGA 0.532 NaN 0 0 0 1 0 45 131 EIF2S3 1968 broad.mit.edu 37 X 24086216 24086216 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:24086216G>A uc004dbc.2 + 9 1024 c.1003G>A c.(1003-1005)GGT>AGT p.G335S NM_001415 NP_001406 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, 335 cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity lung(1) 1 TGCTCCAGGCGGTCTTATTGG 0.363 NaN 0 0 0 1 0 24 63 TAB3 257397 broad.mit.edu 37 X 30873150 30873150 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:30873150C>G uc004dcj.2 - 6 1295 c.632G>C c.(631-633)AGA>ACA p.R211T TAB3_uc004dck.2_Missense_Mutation_p.R211T|TAB3_uc010ngl.2_Missense_Mutation_p.R211T NM_152787 NP_690000 Q8N5C8 TAB3_HUMAN mitogen-activated protein kinase kinase kinase 7 211 Pro-rich. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding ovary(1) 1 TTGTAAAGCTCTTGGTACAGT 0.423 NaN 0 0 0 1 0 25 52 ATP6AP2 10159 broad.mit.edu 37 X 40460059 40460059 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:40460059G>C uc004det.2 + 8 886 c.784G>C c.(784-786)GAG>CAG p.E262Q ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.E186Q|ATP6AP2_uc011mkm.1_Missense_Mutation_p.E230Q|ATP6AP2_uc011mkn.1_Missense_Mutation_p.E184Q|ATP6AP2_uc004deu.1_Missense_Mutation_p.E127Q NM_005765 NP_005756 O75787 RENR_HUMAN ATPase, H+ transporting, lysosomal accessory 262 Extracellular (Potential). angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity 0 TGCAGTGGTAGAGTTAGTCAC 0.373 NaN 0 0 0 1 0 19 68 USP9X 8239 broad.mit.edu 37 X 41010204 41010204 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:41010204G>C uc004dfb.2 + 13 2290 c.1657G>C c.(1657-1659)GAT>CAT p.D553H USP9X_uc004dfc.2_Missense_Mutation_p.D553H NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 553 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 CCAATGGATAGATCGCTTTAT 0.318 NaN 0 0 0 1 0 5 20 ZNF157 7712 broad.mit.edu 37 X 47270104 47270104 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:47270104G>A uc004dhr.1 + 3 294 c.225G>A c.(223-225)ATG>ATA p.M75I NM_003446 NP_003437 P51786 ZN157_HUMAN zinc finger protein 157 75 KRAB. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AACCAGAGATGATCTTCAAGT 0.527 NaN 0 0 0 1 0 5 9 ZNF41 7592 broad.mit.edu 37 X 47307918 47307918 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:47307918C>T uc004dhs.3 - 4 1444 c.1377G>A c.(1375-1377)GGG>GGA p.G459G ZNF41_uc004dhu.3_Silent_p.G451G|ZNF41_uc004dht.3_Silent_p.G331G|ZNF41_uc004dhv.3_Silent_p.G427G|ZNF41_uc004dhw.3_Silent_p.G419G|ZNF41_uc004dhy.3_Silent_p.G417G|ZNF41_uc004dhx.3_Silent_p.G417G|ZNF41_uc011mlm.1_Silent_p.G331G NM_153380 NP_700359 P51814 ZNF41_HUMAN zinc finger protein 41 459 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 all_lung(315;0.000129) TGAAAGCCTTCCCACATTCAT 0.453 NaN 0 0 0 1 0 16 129 FTSJ1 24140 broad.mit.edu 37 X 48340027 48340027 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:48340027C>T uc004djo.1 + 9 902 c.579C>T c.(577-579)TTC>TTT p.F193F FTSJ1_uc004djl.2_Silent_p.F193F|FTSJ1_uc004djm.2_Silent_p.F193F|FTSJ1_uc004djn.1_Silent_p.F193F|FTSJ1_uc004djp.1_Silent_p.F193F|FTSJ1_uc011mlw.1_Silent_p.F56F NM_012280 NP_036412 Q9UET6 RRMJ1_HUMAN FtsJ homolog 1 isoform a 193 RNA methylation|rRNA processing methyltransferase activity|nucleic acid binding 0 CAGAGGCCTTCGCTGTCTGTC 0.647 NaN 0 0 0 1 0 7 19 GRIPAP1 56850 broad.mit.edu 37 X 48837884 48837884 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:48837884C>T uc004dly.1 - 20 1809 c.1774G>A c.(1774-1776)GAG>AAG p.E592K GRIPAP1_uc004dlz.2_Missense_Mutation_p.E482K|GRIPAP1_uc004dma.2_Missense_Mutation_p.E513K NM_020137 NP_064522 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 isoform 1 592 Potential. early endosome breast(2)|kidney(1) 3 TCCTTCACCTCCTGTGGGAGA 0.612 NaN 0 0 0 1 0 4 29 WDR45 11152 broad.mit.edu 37 X 48933303 48933303 + Nonsense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:48933303G>C uc004dmk.1 - 8 798 c.626C>G c.(625-627)TCA>TGA p.S209* PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Nonsense_Mutation_p.S107*|WDR45_uc004dmj.1_Nonsense_Mutation_p.S170*|WDR45_uc004dml.1_Nonsense_Mutation_p.S210*|WDR45_uc004dmm.1_Nonsense_Mutation_p.S174*|WDR45_uc010nim.1_Nonsense_Mutation_p.S209*|WDR45_uc004dmn.1_Nonsense_Mutation_p.S100*|WDR45_uc004dmo.1_Nonsense_Mutation_p.S232*|WDR45_uc004dmp.1_Nonsense_Mutation_p.S210* NM_001029896 NP_001025067 Q9Y484 WIPI4_HUMAN WD repeat domain 45 isoform 2 209 WD 2. autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding p.S210*(1) ovary(1) 1 CTGGGAGGCTGAGGCCACTAC 0.557 NaN 0 0 0 1 0 23 26 ZXDB 158586 broad.mit.edu 37 X 57620058 57620058 + Missense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:57620058C>A uc004dvd.2 + 1 1790 c.1577C>A c.(1576-1578)TCT>TAT p.S526Y NM_007157 NP_009088 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 526 Required for interaction with ZXDC (By similarity).|C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 GCCAGGTTCTCTGCTCGCAGT 0.517 NaN 1 0 1.33834e-09 1 1.47404e-09 10 65 KIF4A 24137 broad.mit.edu 37 X 69521860 69521860 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:69521860G>A uc004dyg.2 + 6 754 c.627G>A c.(625-627)TCG>TCA p.S209S KIF4A_uc010nkw.2_Silent_p.S209S|KIF4A_uc004dyf.1_Silent_p.S209S NM_012310 NP_036442 O95239 KIF4A_HUMAN kinesin family member 4 209 Kinesin-motor. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding ovary(4) 4 ACTCCCAGTCGTCCCGATCTC 0.413 NaN 0 0 0 1 0 6 96 GDPD2 54857 broad.mit.edu 37 X 69646312 69646312 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:69646312C>T uc004dyh.2 + 6 706 c.455C>T c.(454-456)TCA>TTA p.S152L GDPD2_uc010nkx.1_Missense_Mutation_p.S152L|GDPD2_uc010nky.1_5'UTR|GDPD2_uc011mpk.1_Missense_Mutation_p.S152L|GDPD2_uc011mpl.1_Missense_Mutation_p.S73L|GDPD2_uc011mpm.1_Missense_Mutation_p.S73L NM_017711 NP_060181 Q9HCC8 GDPD2_HUMAN osteoblast differentiation promoting factor 152 Extracellular (Potential). glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding ovary(2) 2 Renal(35;0.156) TTGCGTGTGTCACTGCAGGTG 0.592 NaN 0 0 0 1 0 14 17 MED12 9968 broad.mit.edu 37 X 70360539 70360539 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:70360539G>A uc004dyy.2 + 42 6298 c.6099G>A c.(6097-6099)ATG>ATA p.M2033I MED12_uc004dyz.2_Missense_Mutation_p.M2032I|MED12_uc004dza.2_Missense_Mutation_p.M1883I|MED12_uc010nla.2_Missense_Mutation_p.M662I NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 2033 Gln-rich.|Interaction with CTNNB1 and GLI3. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) TGACTCCAATGAGTGCCCAGG 0.413 NaN 0 0 0 1 0 27 108 ATP7A 538 broad.mit.edu 37 X 77244136 77244136 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:77244136G>A uc004ecx.3 + 3 679 c.519G>A c.(517-519)CTG>CTA p.L173L ATP7A_uc004ecw.2_Silent_p.L173L NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 173 HMA 2.|Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 AAGTCGTGCTGAAGATGAAAG 0.433 NaN 0 0 0 1 0 52 253 ITM2A 9452 broad.mit.edu 37 X 78616609 78616609 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:78616609C>G uc004edh.2 - 6 1104 c.769G>C c.(769-771)GAG>CAG p.E257Q ITM2A_uc011mqr.1_Missense_Mutation_p.E213Q NM_004867 NP_004858 O43736 ITM2A_HUMAN integral membrane protein 2A 257 integral to membrane protein binding lung(2) 2 ATCTTGGTCTCAACAATAAAT 0.363 NaN 0 0 0 1 0 13 29 BRWD3 254065 broad.mit.edu 37 X 79932201 79932201 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:79932201C>G uc004edt.2 - 41 5579 c.5316G>C c.(5314-5316)GAG>GAC p.E1772D BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.E1368D|BRWD3_uc004edp.2_Missense_Mutation_p.E1601D|BRWD3_uc004edq.2_Missense_Mutation_p.E1368D|BRWD3_uc010nmj.1_Missense_Mutation_p.E1368D|BRWD3_uc004edr.2_Missense_Mutation_p.E1442D|BRWD3_uc004eds.2_Missense_Mutation_p.E1368D|BRWD3_uc004edu.2_Missense_Mutation_p.E1442D|BRWD3_uc004edv.2_Missense_Mutation_p.E1368D|BRWD3_uc004edw.2_Missense_Mutation_p.E1368D|BRWD3_uc004edx.2_Missense_Mutation_p.E1368D|BRWD3_uc004edy.2_Missense_Mutation_p.E1368D|BRWD3_uc004edz.2_Missense_Mutation_p.E1442D|BRWD3_uc004eea.2_Missense_Mutation_p.E1442D|BRWD3_uc004eeb.2_Missense_Mutation_p.E1368D|uc004edn.1_5'Flank NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1772 ovary(4) 4 TCAGAGGATCCTCAGTGGACA 0.398 NaN 0 0 0 1 0 10 52 CYLC1 1538 broad.mit.edu 37 X 83127893 83127893 + Splice_Site SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:83127893G>A uc004eei.1 + 4 199 c.178_splice c.e4-1 p.R60_splice CYLC1_uc004eeh.1_Splice_Site_p.R59_splice NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 AATCTTTTCAGAGACATGACA 0.294 NaN 0 0 0 1 0 4 16 TCEAL1 9338 broad.mit.edu 37 X 102885010 102885010 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:102885010G>A uc004eks.2 + 3 340 c.166G>A c.(166-168)GAG>AAG p.E56K TCEAL1_uc004ekt.2_Missense_Mutation_p.E56K|TCEAL1_uc004eku.2_Missense_Mutation_p.E56K NM_001006640 NP_001006641 Q15170 TCAL1_HUMAN transcription elongation factor A (SII)-like 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 GCTCTTGCCTGAGCTCCTGCC 0.642 NaN 0 0 0 1 0 11 30 ZCCHC18 644353 broad.mit.edu 37 X 103359457 103359457 + Nonsense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:103359457G>T uc011msh.1 + 3 1971 c.655G>T c.(655-657)GAA>TAA p.E219* MCART6_uc004elu.2_Intron|ZCCHC18_uc011msg.1_Intron NM_001143978 NP_001137450 P0CG32 ZCC18_HUMAN zinc finger, CCHC domain containing 18 219 nucleic acid binding|zinc ion binding 0 GATAAGGGAGGAAGAGGATTG 0.502 NaN 1 0 0.00909568 1 0.00919788 4 33 TRPC5 7224 broad.mit.edu 37 X 111019659 111019659 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:111019659G>A uc004epl.1 - 11 3723 c.2804C>T c.(2803-2805)TCA>TTA p.S935L NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 935 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 TTTAGAATTTGAGGAGCAGAT 0.483 NaN 0 0 0 1 0 7 52 ZCCHC16 340595 broad.mit.edu 37 X 111698393 111698393 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:111698393C>G uc004epo.1 + 3 878 c.437C>G c.(436-438)CCT>CGT p.P146R NM_001004308 NP_001004308 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 146 nucleic acid binding|zinc ion binding p.P146L(1) ovary(1) 1 GAAATCAATCCTCTGATGAAT 0.418 NaN 0 0 0 1 0 16 127 WDR44 54521 broad.mit.edu 37 X 117576550 117576550 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:117576550C>G uc004eqn.2 + 17 2716 c.2291C>G c.(2290-2292)TCC>TGC p.S764C WDR44_uc004eqo.2_Missense_Mutation_p.S764C|WDR44_uc011mtr.1_Missense_Mutation_p.S675C|WDR44_uc010nqi.2_Missense_Mutation_p.S474C NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 764 WD 5. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 TCAAATGACTCCAGAATCAGA 0.338 NaN 0 0 0 1 0 25 49 DOCK11 139818 broad.mit.edu 37 X 117679988 117679988 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:117679988C>T uc004eqp.2 + 6 530 c.467C>T c.(466-468)TCA>TTA p.S156L NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 156 blood coagulation cytosol GTP binding ovary(3) 3 TTTCAGGACTCATCTTCTTTA 0.408 NaN 0 0 0 1 0 23 63 DOCK11 139818 broad.mit.edu 37 X 117761530 117761530 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:117761530G>A uc004eqp.2 + 33 3715 c.3652G>A c.(3652-3654)GAC>AAC p.D1218N DOCK11_uc004eqq.2_Missense_Mutation_p.D997N NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1218 blood coagulation cytosol GTP binding ovary(3) 3 TCTGAGCACTGACAAAGACAC 0.383 NaN 0 0 0 1 0 12 96 ZBTB33 10009 broad.mit.edu 37 X 119387705 119387705 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:119387705G>A uc004esn.1 + 2 663 c.435G>A c.(433-435)AAG>AAA p.K145K ZBTB33_uc010nqm.1_Silent_p.K145K NM_006777 NP_006768 Q86T24 KAISO_HUMAN kaiso 145 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 CTGGTGACAAGAACCTTGTAA 0.403 NaN 0 0 0 1 0 10 54 CT47B1 643311 broad.mit.edu 37 X 120009116 120009116 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:120009116G>A uc011muc.1 - 1 664 c.409C>T c.(409-411)CAC>TAC p.H137Y NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN cancer/testis antigen family 147, member B1 137 0 TGGTCGTTGTGATAGAGGCGG 0.652 NaN 0 0 0 1 0 10 59 STAG2 10735 broad.mit.edu 37 X 123179197 123179197 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:123179197C>A uc004etz.3 + 7 985 c.646C>A c.(646-648)CGA>AGA p.R216R STAG2_uc004eua.2_Silent_p.R216R|STAG2_uc004eub.2_Silent_p.R216R|STAG2_uc004euc.2_Silent_p.R216R|STAG2_uc004eud.2_Silent_p.R216R|STAG2_uc004eue.2_Silent_p.R216R NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 216 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 CAGAGCATTTCGACATACAAG 0.343 NaN 1 0 2.16136e-38 1 2.51228e-38 83 139 DCAF12L2 340578 broad.mit.edu 37 X 125299590 125299590 + Silent SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:125299590C>A uc004euk.1 - 1 345 c.318G>T c.(316-318)CTG>CTT p.L106L NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 106 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GCCTGGCGTTCAGCCACTGTG 0.652 NaN 1 0 0.0477658 1 0.0481479 8 75 UTP14A 10813 broad.mit.edu 37 X 129053376 129053376 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:129053376G>A uc004euz.2 + 8 691 c.663G>A c.(661-663)AAG>AAA p.K221K UTP14A_uc011mup.1_Silent_p.K169K|UTP14A_uc011muq.1_Silent_p.K167K|UTP14A_uc004eva.1_5'Flank NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 221 Potential. rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 TGTAGGCAAAGATGCGACGAG 0.517 NaN 0 0 0 1 0 43 85 AFF2 2334 broad.mit.edu 37 X 147919173 147919173 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:147919173G>A uc004fcp.2 + 5 1568 c.1089G>A c.(1087-1089)GAG>GAA p.E363E AFF2_uc004fco.2_Intron|AFF2_uc004fcq.2_Silent_p.E359E|AFF2_uc004fcr.2_Intron|AFF2_uc011mxb.1_Intron|AFF2_uc004fcs.2_Intron|AFF2_uc011mxc.1_Intron NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 363 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) CTCATTAGGAGATGACCCATT 0.413 NaN 0 0 0 1 0 6 61 IDS 3423 broad.mit.edu 37 X 148571931 148571931 + Missense_Mutation SNP A A G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:148571931A>G uc011mxe.1 - 7 1118 c.920T>C c.(919-921)TTG>TCG p.L307S IDS_uc011mxd.1_5'UTR|IDS_uc011mxf.1_Missense_Mutation_p.L217S|IDS_uc011mxg.1_Missense_Mutation_p.L96S|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Missense_Mutation_p.L96S|IDS_uc011mxh.1_Missense_Mutation_p.L307S|IDS_uc011mxi.1_RNA NM_000202 NP_000193 P22304 IDS_HUMAN iduronate-2-sulfatase isoform a precursor 307 lysosome iduronate-2-sulfatase activity|metal ion binding 0 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CTGTGTATCCAAATATGACAC 0.433 NaN 0 0 0 1 0 20 91 MTMR1 8776 broad.mit.edu 37 X 149867721 149867721 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:149867721C>T uc004fei.2 + 2 335 c.200C>T c.(199-201)TCT>TTT p.S67F MTMR1_uc011mya.1_5'UTR|MTMR1_uc004feg.1_Missense_Mutation_p.S67F|MTMR1_uc004feh.1_Missense_Mutation_p.S67F|MTMR1_uc004fej.2_RNA NM_003828 NP_003819 Q13613 MTMR1_HUMAN myotubularin-related protein 1 67 plasma membrane protein tyrosine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GCTACAATTTCTAGTCAGATT 0.353 NaN 0 0 0 1 0 18 86 RENBP 5973 broad.mit.edu 37 X 153205672 153205672 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:153205672C>T uc004fjo.1 - 9 1130 c.960G>A c.(958-960)ATG>ATA p.M320I NM_002910 NP_002901 P51606 RENBP_HUMAN renin binding protein 320 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity ovary(1)|pancreas(1) 2 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) ACCAGAGCTTCATGGCCCACT 0.602 NaN 0 0 0 1 0 11 51 RENBP 5973 broad.mit.edu 37 X 153207433 153207433 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:153207433G>T uc004fjo.1 - 7 909 c.739C>A c.(739-741)CCT>ACT p.P247T RENBP_uc011mzh.1_Intron NM_002910 NP_002901 P51606 RENBP_HUMAN renin binding protein 247 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity ovary(1)|pancreas(1) 2 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) AGGCAGCCAGGAAGTTCCTTG 0.632 NaN 1 0 1.30475e-32 1 1.5138e-32 39 80 IL9R 3581 broad.mit.edu 37 X 155232650 155232650 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:155232650C>T uc004fnv.1 + 2 287 c.108C>T c.(106-108)GTC>GTT p.V36V IL9R_uc010nvn.2_Silent_p.V15V|IL9R_uc004fnu.1_Silent_p.V83V NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor 36 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GCACCTGTGTCTGCTTGGGAG 0.607 NaN 0 0 0 1 0 12 113 MIPEP 4285 broad.mit.edu 37 13 24460591 24460591 + Frame_Shift_Del DEL C C - TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:24460591delC uc001uox.3 - 2 344 c.244delG c.(244-246)GAAfs p.E82fs PCOTH_uc001uoy.2_5'Flank NM_005932 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase precursor 82 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) AAGGCTTTTTCTTGTGCAATA 0.453 NaN NaN NaN NaN NaN NaN 21 101 --- --- IRS2 8660 broad.mit.edu 37 13 110435129 110435129 + Frame_Shift_Del DEL G G - TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr13:110435129delG uc001vqv.2 - 1 3786 c.3272delC c.(3271-3273)CCGfs p.P1091fs NM_003749 NP_003740 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1091 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1) 8 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) TTCTGGCTTCGGGGGGGCCGC 0.682 NaN NaN NaN NaN NaN NaN 3 5 --- --- SLC35B2 347734 broad.mit.edu 37 6 44222852 44222856 + Frame_Shift_Del DEL ATCTT ATCTT - TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:44222852_44222856delATCTT uc003oxd.2 - 4 1022_1026 c.886_890delAAGAT c.(886-891)AAGATGfs p.K296fs SLC35B2_uc011dvt.1_Frame_Shift_Del_p.K199fs|SLC35B2_uc011dvu.1_Frame_Shift_Del_p.K163fs NM_178148 NP_835361 Q8TB61 S35B2_HUMAN solute carrier family 35, member B2 296_297 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity ovary(1)|central_nervous_system(1) 2 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CACCGATGACATCTTATAGGCAAAC 0.532 NaN NaN NaN NaN NaN NaN 7 55 --- --- PRIM2 5558 broad.mit.edu 37 6 57512639 57512640 + Frame_Shift_Del DEL TT TT - TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chr6:57512639_57512640delTT uc003pdx.2 + 15 1554_1555 c.1467_1468delTT c.(1465-1470)TCTTTAfs p.S489fs NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 489_490 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) CTCTGGCCTCTTTAAATTCCTC 0.411 NaN NaN NaN NaN NaN NaN 30 496 --- --- HUWE1 10075 broad.mit.edu 37 X 53655540 53655540 + Frame_Shift_Del DEL A A - TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91af229-2799-4767-8354-c837196d9224 bb1cef54-4751-40af-ba45-43a9a313bc89 g.chrX:53655540delA uc004dsp.2 - 15 1548 c.1146delT c.(1144-1146)TTTfs p.F382fs NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 382 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GAGCAGTGGCAAACTGGTGAG 0.478 NaN NaN NaN NaN NaN NaN 3 4 --- ---